#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
TRNP1	388610	hgsc.bcm.edu	37	1	27320356	27320356	+	Missense_Mutation	SNP	T	T	C	rs6689941	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr1:27320356T>C	ENST00000522111.2	+	1	159	c.79T>C	c.(79-81)Tgg>Cgg	p.W27R		NM_001013642.2	NP_001013664	Q6NT89	TRNP1_HUMAN	TMF1-regulated nuclear protein 1	27	Pro-rich.		W -> R (in dbSNP:rs6689941). {ECO:0000269|PubMed:15489334}.		cell cycle (GO:0007049)|cerebellar cortex morphogenesis (GO:0021696)|neural precursor cell proliferation (GO:0061351)|regulation of cell cycle (GO:0051726)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)	DNA binding (GO:0003677)										gccgccgccctgggatcccat	0.781													t|||	4918	0.982029	0.9334	0.9971	5008	,	,		5184	1.0		1.0	False		,,,				2504	1.0				p.W27R		.											.	TRNP1-44	0			c.T79C						.		ARG/TRP	1872,78		897,78,0	2.0	3.0	3.0		79	0.8	0.8	1	dbSNP_116	3	4889,5		2442,5,0	no	missense	TRNP1	NM_001013642.2	101	3339,83,0	CC,CT,TT		0.1022,4.0,1.2127	benign	27/228	27320356	6761,83	975	2447	3422	SO:0001583	missense	388610	exon1			CCGCCCTGGGATC	AI366714, AL356390, BC069216, CH471059	CCDS41289.1	1p36.11	2012-10-03	2009-02-19	2009-02-19	ENSG00000253368	ENSG00000253368			34348	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 225"""	C1orf225		12477932	Standard	NM_001013642		Approved	LOC388610	uc001bnj.4	Q6NT89	OTTHUMG00000004277	ENST00000522111.2:c.79T>C	1.37:g.27320356T>C	ENSP00000429216:p.Trp27Arg	0	0		4	4	NM_001013642	0	0	0	0	0		Missense_Mutation	SNP	ENST00000522111.2	37	CCDS41289.1	2118	0.9697802197802198	448	0.9105691056910569	356	0.9834254143646409	569	0.9947552447552448	745	0.9828496042216359	t	10.07	1.249893	0.22880	0.96	0.998978	ENSG00000253368	ENST00000522111	T	0.39229	1.09	2.9	0.764	0.18465	.	1.465370	0.05478	N	0.554332	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28522	-1.0041	9	0.06757	T	0.87	.	5.0244	0.14378	0.0:0.4477:0.4194:0.1329	rs6689941;rs58716663	27	Q6NT89	TRNP1_HUMAN	R	27	ENSP00000429216:W27R	ENSP00000429216:W27R	W	+	1	0	TRNP1	27192943	1.000000	0.71417	0.821000	0.32701	0.096000	0.18686	0.270000	0.18607	-0.207000	0.10187	-0.411000	0.06167	TGG	T|0.030;C|0.970		0.781	TRNP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012346.3	NM_001013642	
PTPRF	5792	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	44057031	44057031	+	Silent	SNP	A	A	G			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr1:44057031A>G	ENST00000359947.4	+	9	1678	c.1338A>G	c.(1336-1338)ggA>ggG	p.G446G	PTPRF_ENST00000372413.3_Silent_p.G446G|PTPRF_ENST00000422171.2_5'Flank|PTPRF_ENST00000438120.1_Silent_p.G446G|PTPRF_ENST00000372414.3_Silent_p.G446G	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	446	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGGTGCGGGGATACCGCGTCT	0.711																																					p.G446G		.											.	PTPRF-232	0			c.A1338G						.						11.0	10.0	11.0					1																	44057031		2118	4180	6298	SO:0001819	synonymous_variant	5792	exon9			GCGGGGATACCGC	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.1338A>G	1.37:g.44057031A>G		46	0		72	18	NM_002840	0	0	0	0	0	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.746|0.746	-0.774735|-0.774735	0.02951|0.02951	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000412568	.|.	.|.	.|.	5.38|5.38	-10.8|-10.8	0.00216|0.00216	.|.	.|.	.|.	.|.	.|.	T|T	0.47021|0.47021	0.1423|0.1423	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.60234|0.60234	-0.7303|-0.7303	4|4	.|.	.|.	.|.	.|.	9.9676|9.9676	0.41734|0.41734	0.0807:0.544:0.3133:0.0621|0.0807:0.544:0.3133:0.0621	.|.	.|.	.|.	.|.	G|V	103|114	.|.	.|.	D|I	+|+	2|1	0|0	PTPRF|PTPRF	43829618|43829618	0.000000|0.000000	0.05858|0.05858	0.427000|0.427000	0.26684|0.26684	0.006000|0.006000	0.05464|0.05464	-2.517000|-2.517000	0.00954|0.00954	-2.486000|-2.486000	0.00520|0.00520	-1.247000|-1.247000	0.01520|0.01520	GAT|ATA	.		0.711	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1		
TCTEX1D4	343521	hgsc.bcm.edu	37	1	45271828	45271828	+	Silent	SNP	T	T	C	rs17885815	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr1:45271828T>C	ENST00000339355.2	-	1	519	c.513A>G	c.(511-513)gtA>gtG	p.V171V	BTBD19_ENST00000409335.2_5'Flank|BTBD19_ENST00000450269.1_5'Flank|TCTEX1D4_ENST00000372200.1_Silent_p.V171V|BTBD19_ENST00000453418.1_5'Flank			Q5JR98	TC1D4_HUMAN	Tctex1 domain containing 4	171						acrosomal vesicle (GO:0001669)|axoneme (GO:0005930)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)	protein phosphatase 1 binding (GO:0008157)			pancreas(1)	1	Acute lymphoblastic leukemia(166;0.155)					CCACACTGCATACCAGCTTGT	0.716													C|||	682	0.136182	0.0764	0.1427	5008	,	,		11465	0.1647		0.1759	False		,,,				2504	0.1421				p.V171V		.											.	TCTEX1D4-91	0			c.A513G						.	C		415,3851		26,363,1744	6.0	9.0	8.0		513	5.5	1.0	1	dbSNP_124	8	1263,7055		105,1053,3001	no	coding-synonymous	TCTEX1D4	NM_001013632.2		131,1416,4745	CC,CT,TT		15.1839,9.7281,13.3344		171/222	45271828	1678,10906	2133	4159	6292	SO:0001819	synonymous_variant	343521	exon2			ACTGCATACCAGC	BC092499	CCDS30699.1	1p34.1	2007-12-17				ENSG00000188396			32315	protein-coding gene	gene with protein product	"""novel Tctex-1 family domain-containing protein"""	611713				12477932	Standard	XM_006710614		Approved		uc001cmp.3	Q5JR98		ENST00000339355.2:c.513A>G	1.37:g.45271828T>C		1	0		10	8	NM_001013632	0	0	0	0	0		Silent	SNP	ENST00000339355.2	37	CCDS30699.1																																																																																			T|0.859;C|0.141		0.716	TCTEX1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023733.1	NM_001013632	
JAK1	3716	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	65321267	65321267	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr1:65321267G>A	ENST00000342505.4	-	11	1821	c.1573C>T	c.(1573-1575)Cac>Tac	p.H525Y		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	525	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TTCTTGAGGTGGCTCATGAGG	0.582			Mis		ALL																																p.H525Y		.		Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	.	JAK1-3900	0			c.C1573T						.						64.0	69.0	67.0					1																	65321267		2096	4219	6315	SO:0001583	missense	3716	exon11			TGAGGTGGCTCAT	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.1573C>T	1.37:g.65321267G>A	ENSP00000343204:p.His525Tyr	142	0		107	15	NM_002227	0	0	3	3	0	Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247757	0.80024	.	.	ENSG00000162434	ENST00000342505	T	0.42513	0.97	4.53	4.53	0.55603	SH2 motif (3);	.	.	.	.	T	0.38161	0.1030	L	0.41824	1.3	0.58432	D	0.999997	D	0.69078	0.997	D	0.75484	0.986	T	0.22487	-1.0215	9	0.02654	T	1	-6.3763	17.4424	0.87568	0.0:0.0:1.0:0.0	.	525	P23458	JAK1_HUMAN	Y	525	ENSP00000343204:H525Y	ENSP00000343204:H525Y	H	-	1	0	JAK1	65093855	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	4.290000	0.59019	2.519000	0.84933	0.655000	0.94253	CAC	.		0.582	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227	
OVGP1	5016	bcgsc.ca	37	1	111957533	111957533	+	Silent	SNP	C	C	T	rs112145355		TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr1:111957533C>T	ENST00000369732.3	-	11	1645	c.1590G>A	c.(1588-1590)caG>caA	p.Q530Q		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	530					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GGGTCACAGACTGATGACCCA	0.542																																					p.Q530Q		.											.	OVGP1-135	0			c.G1590A						.						59.0	57.0	58.0					1																	111957533		2197	4207	6404	SO:0001819	synonymous_variant	5016	exon11			CACAGACTGATGA	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1590G>A	1.37:g.111957533C>T		51	1		35	21	NM_002557	0	0	0	0	0	A0AV19|B9EGE1|Q15841	Silent	SNP	ENST00000369732.3	37	CCDS834.1																																																																																			C|0.500;T|0.500		0.542	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557	
KPRP	448834	broad.mit.edu	37	1	152733496	152733496	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr1:152733496C>A	ENST00000606109.1	+	1	1460	c.1432C>A	c.(1432-1434)Cca>Aca	p.P478T	KPRP_ENST00000368773.1_Missense_Mutation_p.P478T			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	478	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACGACCAGAGCCAATTCCCCT	0.672																																					p.P478T		.											.	KPRP-95	0			c.C1432A						.						76.0	81.0	79.0					1																	152733496		2203	4300	6503	SO:0001583	missense	448834	exon2			CCAGAGCCAATTC	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1432C>A	1.37:g.152733496C>A	ENSP00000475216:p.Pro478Thr	43	2		53	4	NM_001025231	0	0	0	0	0		Missense_Mutation	SNP	ENST00000606109.1	37	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122653	0.94429	.	.	ENSG00000203786	ENST00000368773	T	0.14144	2.53	4.61	4.61	0.57282	.	0.000000	0.48286	D	0.000191	T	0.24470	0.0593	L	0.54323	1.7	0.53005	D	0.999968	D	0.89917	1.0	D	0.91635	0.999	T	0.00697	-1.1605	10	0.72032	D	0.01	-7.9264	15.329	0.74190	0.0:1.0:0.0:0.0	.	478	Q5T749	KPRP_HUMAN	T	478	ENSP00000357762:P478T	ENSP00000357762:P478T	P	+	1	0	KPRP	151000120	0.970000	0.33590	0.729000	0.30791	0.513000	0.34164	3.805000	0.55575	2.555000	0.86185	0.462000	0.41574	CCA	.		0.672	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231	
F5	2153	broad.mit.edu;bcgsc.ca	37	1	169510485	169510485	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr1:169510485G>T	ENST00000367797.3	-	13	4044	c.3843C>A	c.(3841-3843)agC>agA	p.S1281R	F5_ENST00000367796.3_Missense_Mutation_p.S1286R	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1281	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GGGTTGTATGGCTGAGGTCTG	0.507																																					p.S1281R		.											.	F5-157	0			c.C3843A						.						211.0	227.0	222.0					1																	169510485		2203	4300	6503	SO:0001583	missense	2153	exon13			TGTATGGCTGAGG	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3843C>A	1.37:g.169510485G>T	ENSP00000356771:p.Ser1281Arg	383	1		318	11	NM_000130	0	0	0	0	0	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532129	0.27387	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.33865	1.39;1.39	4.29	-8.58	0.00897	.	1.782280	0.02277	N	0.069022	T	0.07683	0.0193	L	0.38175	1.15	0.19575	N	0.999964	B	0.11235	0.004	B	0.09377	0.004	T	0.05903	-1.0857	9	0.16896	T	0.51	.	8.0566	0.30608	0.457:0.1849:0.358:0.0	.	1281	P12259	FA5_HUMAN	R	1281;1286	ENSP00000356771:S1281R;ENSP00000356770:S1286R	ENSP00000356770:S1286R	S	-	3	2	F5	167777109	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.035000	0.03564	-2.187000	0.00759	-1.708000	0.00717	AGC	.		0.507	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130	
TOR3A	64222	hgsc.bcm.edu	37	1	179051300	179051300	+	Missense_Mutation	SNP	T	T	C	rs2296377	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr1:179051300T>C	ENST00000367627.3	+	1	789	c.37T>C	c.(37-39)Ttc>Ctc	p.F13L	TOR3A_ENST00000352445.6_Missense_Mutation_p.F13L	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	13			F -> L (in dbSNP:rs2296377). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.		ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TTGGCTCTTTTTCCTGCTGCT	0.751													C|||	3842	0.767173	0.9879	0.6441	5008	,	,		12722	0.6677		0.7117	False		,,,				2504	0.7157				p.F13L		.											.	TOR3A-90	0			c.T37C						.	C	LEU/PHE	3262,174		1547,168,3	2.0	3.0	3.0		37	-0.8	0.0	1	dbSNP_100	3	5365,1739		2051,1263,238	yes	missense	TOR3A	NM_022371.3	22	3598,1431,241	CC,CT,TT		24.4792,5.064,18.1499	benign	13/398	179051300	8627,1913	1718	3552	5270	SO:0001583	missense	64222	exon1			CTCTTTTTCCTGC	BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"""ATP-dependant interferon responsive"""	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.37T>C	1.37:g.179051300T>C	ENSP00000356599:p.Phe13Leu	2	0		8	8	NM_022371	0	0	0	0	0	B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Missense_Mutation	SNP	ENST00000367627.3	37	CCDS1329.1	1679	0.7687728937728938	484	0.983739837398374	250	0.6906077348066298	393	0.6870629370629371	552	0.7282321899736148	C	0.033	-1.323382	0.01309	0.94936	0.755208	ENSG00000186283	ENST00000367627;ENST00000367625;ENST00000352445	T;T;T	0.35421	1.31;1.4;1.63	0.427	-0.794	0.10918	.	1.274350	0.05916	N	0.632520	T	0.00012	0.0000	N	0.00368	-1.59	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45906	-0.9229	8	0.02654	T	1	-1.1524	.	.	.	rs2296377;rs17844883;rs17856371;rs17857600;rs17857917;rs17858479;rs59034332;rs2296377	13	Q9H497	TOR3A_HUMAN	L	13	ENSP00000356599:F13L;ENSP00000356597:F13L;ENSP00000335351:F13L	ENSP00000335351:F13L	F	+	1	0	TOR3A	177317923	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-1.490000	0.02304	-1.608000	0.01587	-1.610000	0.00802	TTC	T|0.229;C|0.771		0.751	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371	
HMCN1	83872	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	186047340	186047340	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr1:186047340G>A	ENST00000271588.4	+	55	8816	c.8587G>A	c.(8587-8589)Gtc>Atc	p.V2863I	HMCN1_ENST00000367492.2_Missense_Mutation_p.V2863I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2863	Ig-like C2-type 26.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCAATATGATGTCCGTGTACT	0.413																																					p.V2863I		.											.	HMCN1-113	0			c.G8587A						.						239.0	222.0	228.0					1																	186047340		2203	4300	6503	SO:0001583	missense	83872	exon55			TATGATGTCCGTG	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8587G>A	1.37:g.186047340G>A	ENSP00000271588:p.Val2863Ile	116	0		118	22	NM_031935	0	0	0	0	0	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489239	0.26686	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.79033	-1.23;-1.23	5.5	0.951	0.19579	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.237506	0.42420	N	0.000702	T	0.67316	0.2880	L	0.43152	1.355	0.48901	D	0.999729	B	0.11235	0.004	B	0.19148	0.024	T	0.58222	-0.7674	10	0.30078	T	0.28	.	11.2005	0.48739	0.3175:0.0:0.6825:0.0	.	2863	Q96RW7	HMCN1_HUMAN	I	2863	ENSP00000271588:V2863I;ENSP00000356462:V2863I	ENSP00000271588:V2863I	V	+	1	0	HMCN1	184313963	1.000000	0.71417	0.960000	0.40013	0.310000	0.27922	3.506000	0.53364	0.291000	0.22468	0.655000	0.94253	GTC	.		0.413	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
TMEM206	55248	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	212560297	212560297	+	Silent	SNP	A	A	T			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr1:212560297A>T	ENST00000261455.4	-	3	416	c.279T>A	c.(277-279)cgT>cgA	p.R93R	TMEM206_ENST00000471937.1_5'UTR|TMEM206_ENST00000535273.1_Silent_p.R154R	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	93						cell surface (GO:0009986)|integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		TGAGTTTCTCACGAAAGTCTG	0.557																																					p.R154R		.											.	TMEM206-153	0			c.T462A						.						175.0	163.0	167.0					1																	212560297		2203	4300	6503	SO:0001819	synonymous_variant	55248	exon4			TTTCTCACGAAAG	AK024066	CCDS1504.1, CCDS55687.1	1q32.3	2008-02-05	2008-01-17	2008-01-17	ENSG00000065600	ENSG00000065600			25593	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 75"""	C1orf75		12477932	Standard	NM_018252		Approved	FLJ10874	uc010pte.2	Q9H813	OTTHUMG00000036751	ENST00000261455.4:c.279T>A	1.37:g.212560297A>T		154	0		167	11	NM_001198862	0	0	0	0	0	B7Z4D6|Q6IA87|Q9NV85	Silent	SNP	ENST00000261455.4	37	CCDS1504.1																																																																																			.		0.557	TMEM206-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089306.1	NM_018252	
ADSS	159	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	244583531	244583531	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr1:244583531C>G	ENST00000366535.3	-	8	1047	c.731G>C	c.(730-732)gGa>gCa	p.G244A	ADSS_ENST00000462358.1_5'UTR	NM_001126.3	NP_001117.2			adenylosuccinate synthase											endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			CTTTGGTGGTCCATGTAGGGC	0.353																																					p.G244A		.											.	ADSS-229	0			c.G731C						.						137.0	128.0	131.0					1																	244583531		2202	4300	6502	SO:0001583	missense	159	exon8			GGTGGTCCATGTA	BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.731G>C	1.37:g.244583531C>G	ENSP00000355493:p.Gly244Ala	96	0		50	14	NM_001126	0	0	1	1	0		Missense_Mutation	SNP	ENST00000366535.3	37	CCDS1624.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.399875	0.42613	.	.	ENSG00000035687	ENST00000366535;ENST00000449326	T	0.38887	1.11	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.25269	0.0614	N	0.10733	0.035	0.80722	D	1	B	0.30605	0.287	B	0.32465	0.146	T	0.10753	-1.0616	10	0.05351	T	0.99	-17.2564	20.0627	0.97684	0.0:1.0:0.0:0.0	.	244	P30520	PURA2_HUMAN	A	244;223	ENSP00000355493:G244A	ENSP00000355493:G244A	G	-	2	0	ADSS	242650154	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.752000	0.85141	2.807000	0.96579	0.591000	0.81541	GGA	.		0.353	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096697.1	NM_001126	
LYZL1	84569	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	10	29599974	29599975	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	TG	TG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr10:29599974_29599975delTG	ENST00000375500.3	+	5	628_629	c.571_572delTG	c.(571-573)tgtfs	p.C191fs		NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	145					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				GAAAAAAGGCTGTGAGGTTTCC	0.515																																					p.191_191del		.											.	LYZL1-90	0			c.571_572del						.																																			SO:0001589	frameshift_variant	84569	exon5			AAAGGCTGTGAGG		CCDS31174.1	10p12.1	2004-08-02			ENSG00000120563	ENSG00000120563	3.2.1.1		30502	protein-coding gene	gene with protein product						12477932	Standard	XM_005252627		Approved	MGC33408, LYC2	uc001iul.3	Q6UWQ5	OTTHUMG00000017880	ENST00000375500.3:c.571_572delTG	10.37:g.29599976_29599977delTG	ENSP00000364650:p.Cys191fs	137	0		149	28	NM_032517	0	0	0	0	0	Q5T921|Q8WW16	Frame_Shift_Del	DEL	ENST00000375500.3	37	CCDS31174.1																																																																																			.		0.515	LYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047381.1	NM_032517	
LYZL1	84569	hgsc.bcm.edu	37	10	29599976	29599977	+	Frame_Shift_Del	DEL	TG	TG	-	rs199993914		TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	TG	TG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr10:29599976_29599977delTG	ENST00000375500.3	+	5	630_631	c.573_574delTG	c.(571-576)tgtgagfs	p.CE191fs		NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	145					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				AAAAAGGCTGTGAGGTTTCCTA	0.52																																					p.191_192del		.											.	LYZL1-90	0			c.573_574del						.																																			SO:0001589	frameshift_variant	84569	exon5			AGGCTGTGAGGTT		CCDS31174.1	10p12.1	2004-08-02			ENSG00000120563	ENSG00000120563	3.2.1.1		30502	protein-coding gene	gene with protein product						12477932	Standard	XM_005252627		Approved	MGC33408, LYC2	uc001iul.3	Q6UWQ5	OTTHUMG00000017880	ENST00000375500.3:c.573_574delTG	10.37:g.29599976_29599977delTG	ENSP00000364650:p.Cys191fs	137	0		150	0	NM_032517	0	0	0	0	0	Q5T921|Q8WW16	Frame_Shift_Del	DEL	ENST00000375500.3	37	CCDS31174.1																																																																																			.		0.520	LYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047381.1	NM_032517	
SIRT1	23411	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	69651221	69651221	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr10:69651221C>T	ENST00000212015.6	+	4	904	c.851C>T	c.(850-852)gCt>gTt	p.A284V	SIRT1_ENST00000406900.1_5'Flank|SIRT1_ENST00000497639.1_3'UTR|SIRT1_ENST00000432464.1_5'UTR	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	284	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.|Interaction with CCAR2.				angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						GCTCGCCTTGCTGTAGACTTC	0.378																																					p.A284V		.											.	SIRT1-226	0			c.C851T						.						228.0	222.0	224.0					10																	69651221		2203	4300	6503	SO:0001583	missense	23411	exon4			GCCTTGCTGTAGA	AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1"", ""sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"""			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.851C>T	10.37:g.69651221C>T	ENSP00000212015:p.Ala284Val	129	0		119	40	NM_012238	0	0	0	0	0	Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Missense_Mutation	SNP	ENST00000212015.6	37	CCDS7273.1	.	.	.	.	.	.	.	.	.	.	C	34	5.292716	0.95546	.	.	ENSG00000096717	ENST00000212015	T	0.47528	0.84	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.71567	0.3355	M	0.83223	2.63	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	T	0.76948	-0.2770	10	0.87932	D	0	-16.5145	17.7449	0.88418	0.0:1.0:0.0:0.0	.	284	Q96EB6	SIRT1_HUMAN	V	284	ENSP00000212015:A284V	ENSP00000212015:A284V	A	+	2	0	SIRT1	69321227	1.000000	0.71417	0.982000	0.44146	0.966000	0.64601	7.289000	0.78701	2.495000	0.84180	0.557000	0.71058	GCT	.		0.378	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1		
CYP26C1	340665	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	94821064	94821064	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr10:94821064C>T	ENST00000285949.5	+	1	44	c.44C>T	c.(43-45)gCg>gTg	p.A15V	RP11-348J12.2_ENST00000444965.1_RNA	NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	15					anterior/posterior pattern specification (GO:0009952)|central nervous system development (GO:0007417)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|organelle fusion (GO:0048284)|oxidation-reduction process (GO:0055114)|retinoic acid catabolic process (GO:0034653)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				CTGGGGGCGGCGGGCACTGCT	0.716																																					p.A15V		.											.	CYP26C1-90	0			c.C44T						.						9.0	11.0	10.0					10																	94821064		2188	4275	6463	SO:0001583	missense	340665	exon1			GGGCGGCGGGCAC		CCDS7425.1	10q23.33	2003-11-20			ENSG00000187553	ENSG00000187553		"""Cytochrome P450s"""	20577	protein-coding gene	gene with protein product		608428					Standard	XR_246086		Approved		uc010qns.2	Q6V0L0	OTTHUMG00000018766	ENST00000285949.5:c.44C>T	10.37:g.94821064C>T	ENSP00000285949:p.Ala15Val	29	0		71	20	NM_183374	0	0	0	0	0	Q5VXH6	Missense_Mutation	SNP	ENST00000285949.5	37	CCDS7425.1	.	.	.	.	.	.	.	.	.	.	C	2.522	-0.310442	0.05458	.	.	ENSG00000187553	ENST00000285949	T	0.70749	-0.51	5.19	2.34	0.29019	.	0.340870	0.33144	N	0.005233	T	0.44393	0.1291	N	0.08118	0	0.09310	N	1	B	0.15930	0.015	B	0.10450	0.005	T	0.22591	-1.0212	10	0.13470	T	0.59	-13.152	8.6381	0.33962	0.0:0.6793:0.0:0.3207	.	15	Q6V0L0	CP26C_HUMAN	V	15	ENSP00000285949:A15V	ENSP00000285949:A15V	A	+	2	0	CYP26C1	94811054	0.000000	0.05858	0.081000	0.20488	0.755000	0.42902	0.015000	0.13355	0.294000	0.22547	0.561000	0.74099	GCG	.		0.716	CYP26C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049409.2	NM_183374	
CDHR5	53841	bcgsc.ca	37	11	621634	621634	+	Silent	SNP	G	G	A	rs2740373	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr11:621634G>A	ENST00000358353.3	-	6	757	c.435C>T	c.(433-435)ccC>ccT	p.P145P	CDHR5_ENST00000349570.7_Silent_p.P145P|CDHR5_ENST00000397542.2_Silent_p.P145P|CDHR5_ENST00000529337.1_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	145	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043, ECO:0000305}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GTTGCGTCTCGGGGATGACGG	0.637													a|||	933	0.186302	0.4629	0.1268	5008	,	,		17034	0.0188		0.1491	False		,,,				2504	0.0654				p.P145P		.											.	CDHR5-90	0			c.C435T						.		,,	1744,2662	647.0+/-398.5	336,1072,795	142.0	114.0	123.0		435,435,435	-7.8	0.0	11	dbSNP_100	123	1222,7378	762.6+/-407.6	97,1028,3175	no	coding-synonymous,coding-synonymous,coding-synonymous	CDHR5	NM_001171968.1,NM_021924.4,NM_031264.3	,,	433,2100,3970	AA,AG,GG		14.2093,39.5824,22.8049	,,	145/840,145/846,145/652	621634	2966,10040	2203	4300	6503	SO:0001819	synonymous_variant	53841	exon5			CGTCTCGGGGATG	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.435C>T	11.37:g.621634G>A		131	0		135	5	NM_031264	0	0	0	0	0	C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Silent	SNP	ENST00000358353.3	37	CCDS7707.1																																																																																			G|0.783;A|0.217		0.637	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924	
OR52E2	119678	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	5080032	5080032	+	Missense_Mutation	SNP	G	G	A	rs367563585		TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr11:5080032G>A	ENST00000321522.2	-	1	825	c.826C>T	c.(826-828)Ctc>Ttc	p.L276F		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		TTGGCTAGGAGTATATGGATA	0.418																																					p.L276F		.											.	OR52E2-71	0			c.C826T						.						73.0	76.0	75.0					11																	5080032		2201	4298	6499	SO:0001583	missense	119678	exon1			CTAGGAGTATATG	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"""GPCR / Class A : Olfactory receptors"""	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.826C>T	11.37:g.5080032G>A	ENSP00000322088:p.Leu276Phe	155	0		140	59	NM_001005164	0	0	0	0	0		Missense_Mutation	SNP	ENST00000321522.2	37	CCDS31371.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.237993	0.22711	.	.	ENSG00000176787	ENST00000321522	T	0.00152	8.66	3.44	2.49	0.30216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43110	D	0.000604	T	0.00210	0.0006	L	0.50333	1.59	0.09310	N	1	B	0.32507	0.373	B	0.41691	0.364	T	0.18871	-1.0323	10	0.34782	T	0.22	.	11.4033	0.49883	0.0:0.0:0.8171:0.1829	.	276	Q8NGJ4	O52E2_HUMAN	F	276	ENSP00000322088:L276F	ENSP00000322088:L276F	L	-	1	0	OR52E2	5036608	0.018000	0.18449	0.140000	0.22221	0.928000	0.56348	0.463000	0.21972	1.002000	0.39104	0.644000	0.83932	CTC	.		0.418	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164	
NAV2	89797	bcgsc.ca	37	11	20067064	20067064	+	Silent	SNP	C	C	T	rs7125647	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr11:20067064C>T	ENST00000396087.3	+	15	3918	c.3819C>T	c.(3817-3819)gaC>gaT	p.D1273D	NAV2_ENST00000349880.4_Silent_p.D1250D|NAV2_ENST00000396085.1_Silent_p.D1250D|NAV2_ENST00000533917.1_Silent_p.D336D|NAV2_ENST00000311043.8_Silent_p.D336D|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000527559.2_Silent_p.D1202D|NAV2_ENST00000360655.4_Silent_p.D1186D|NAV2_ENST00000540292.1_Silent_p.D1204D	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1273					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ACCAAACAGACAAGGAGAAAG	0.557													T|||	3317	0.66234	0.5983	0.6628	5008	,	,		19526	0.8313		0.5378	False		,,,				2504	0.7025				p.D1273D		.											.	NAV2-96	0			c.C3819T						.	T	,,,	2696,1710	515.2+/-368.8	834,1028,341	68.0	65.0	66.0		3558,1008,3750,3750	-0.5	0.9	11	dbSNP_116	66	4672,3928	547.1+/-385.1	1261,2150,889	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NAV2	NM_001111018.1,NM_001111019.1,NM_145117.4,NM_182964.5	,,,	2095,3178,1230	TT,TC,CC		45.6744,38.8107,43.3492	,,,	1186/2366,336/1494,1250/2430,1250/2433	20067064	7368,5638	2203	4300	6503	SO:0001819	synonymous_variant	89797	exon15			AACAGACAAGGAG	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.3819C>T	11.37:g.20067064C>T		104	1		108	6	NM_001244963	0	0	0	0	0	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	CCDS58126.1																																																																																			C|0.383;T|0.617		0.557	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117	
FOLH1	2346	bcgsc.ca	37	11	49204732	49204732	+	Missense_Mutation	SNP	T	T	C	rs199782232		TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr11:49204732T>C	ENST00000256999.2	-	7	1149	c.889A>G	c.(889-891)Att>Gtt	p.I297V	FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000340334.7_Missense_Mutation_p.I282V|FOLH1_ENST00000356696.3_Missense_Mutation_p.I297V|FOLH1_ENST00000533034.1_Missense_Mutation_p.I282V	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	297	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TAGTATCCAATTGGATGAACA	0.363																																					p.I297V		.											.	FOLH1-579	0			c.A889G						.						78.0	79.0	78.0					11																	49204732		2201	4298	6499	SO:0001583	missense	2346	exon7			ATCCAATTGGATG	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.889A>G	11.37:g.49204732T>C	ENSP00000256999:p.Ile297Val	131	0		143	8	NM_004476	0	0	1	1	0	A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	T	7.025	0.559465	0.13436	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	2.76	1.59	0.23543	.	0.125811	0.35349	N	0.003276	T	0.50582	0.1624	M	0.78344	2.41	0.80722	D	1	B;B;B;B	0.20459	0.007;0.001;0.045;0.02	B;B;B;B	0.28139	0.046;0.018;0.086;0.035	T	0.47355	-0.9124	10	0.54805	T	0.06	.	6.1691	0.20406	0.0:0.1358:0.0:0.8642	.	282;282;297;297	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	V	297;297;282;282;297	ENSP00000256999:I297V;ENSP00000349129:I297V;ENSP00000344131:I282V;ENSP00000431463:I282V	ENSP00000256999:I297V	I	-	1	0	FOLH1	49161308	1.000000	0.71417	0.994000	0.49952	0.146000	0.21551	3.347000	0.52200	0.301000	0.22738	0.163000	0.16589	ATT	.		0.363	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476	
OR4A15	81328	bcgsc.ca	37	11	55135435	55135435	+	Missense_Mutation	SNP	C	C	T	rs1425193	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr11:55135435C>T	ENST00000314706.3	+	1	76	c.76C>T	c.(76-78)Cct>Tct	p.P26S		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	26			P -> S (in dbSNP:rs1425193).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GAGTCCAACACCTTCAGAAGA	0.398													.|||	1139	0.227436	0.0159	0.3141	5008	,	,		17645	0.3869		0.2823	False		,,,				2504	0.2311				p.P26S		.											.	OR4A15-70	0			c.C76T						.	C	SER/PRO	275,4127	153.7+/-187.2	6,263,1932	62.0	58.0	59.0		76	-2.7	0.0	11	dbSNP_88	59	2281,6311	383.2+/-340.6	325,1631,2340	yes	missense	OR4A15	NM_001005275.1	74	331,1894,4272	TT,TC,CC		26.548,6.2472,19.6706	benign	26/345	55135435	2556,10438	2201	4296	6497	SO:0001583	missense	81328	exon1			CCAACACCTTCAG	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.76C>T	11.37:g.55135435C>T	ENSP00000325065:p.Pro26Ser	113	0		126	7	NM_001005275	0	0	0	0	0	Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	CCDS31500.1	564	0.25824175824175827	13	0.026422764227642278	122	0.3370165745856354	212	0.3706293706293706	217	0.2862796833773087	c	9.493	1.101203	0.20632	0.062472	0.26548	ENSG00000181958	ENST00000314706	T	0.37584	1.19	2.8	-2.65	0.06095	.	.	.	.	.	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	0.41752	-0.9491	8	0.07030	T	0.85	.	0.9311	0.01335	0.3917:0.2726:0.194:0.1417	rs1425193;rs59457328;rs1425193	26	Q8NGL6	O4A15_HUMAN	S	26	ENSP00000325065:P26S	ENSP00000325065:P26S	P	+	1	0	OR4A15	54892011	.	.	0.000000	0.03702	0.043000	0.13939	.	.	-0.268000	0.09312	0.492000	0.49549	CCT	C|0.778;T|0.222		0.398	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275	
OR5D13	390142	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	55541619	55541619	+	Missense_Mutation	SNP	C	C	G	rs369729738		TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr11:55541619C>G	ENST00000361760.1	+	1	706	c.706C>G	c.(706-708)Cgc>Ggc	p.R236G		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	236			R -> L (in dbSNP:rs7124871).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGCAAGTGGGCGCCAGAAAAC	0.408																																					p.R236G		.											.	OR5D13-71	0			c.C706G						.						134.0	119.0	124.0					11																	55541619		2200	4296	6496	SO:0001583	missense	390142	exon1			AGTGGGCGCCAGA	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.706C>G	11.37:g.55541619C>G	ENSP00000354800:p.Arg236Gly	75	0		91	15	NM_001001967	0	0	0	0	0	Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434514	0.43224	.	.	ENSG00000198877	ENST00000361760	T	0.00333	8.07	3.82	-7.64	0.01286	GPCR, rhodopsin-like superfamily (1);	0.690085	0.10966	U	0.614455	T	0.00496	0.0016	M	0.88704	2.975	0.09310	N	1	D	0.58268	0.982	P	0.59115	0.852	T	0.17653	-1.0362	10	0.87932	D	0	-0.5898	2.0261	0.03519	0.5273:0.1688:0.1033:0.2006	.	236	Q8NGL4	OR5DD_HUMAN	G	236	ENSP00000354800:R236G	ENSP00000354800:R236G	R	+	1	0	OR5D13	55298195	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.486000	0.06513	-1.025000	0.03334	-0.527000	0.04329	CGC	.		0.408	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967	
TM7SF2	7108	hgsc.bcm.edu	37	11	64880090	64880090	+	Silent	SNP	G	G	C	rs4930284	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr11:64880090G>C	ENST00000279263.7	+	2	318	c.156G>C	c.(154-156)ccG>ccC	p.P52P	AP003068.9_ENST00000528887.1_RNA|TM7SF2_ENST00000345348.5_Silent_p.P52P|TM7SF2_ENST00000540748.1_5'UTR	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	52					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGTCCCTGCCGGGGCTGGAGG	0.756													C|||	4990	0.996406	0.9879	0.9986	5008	,	,		10438	1.0		0.999	False		,,,				2504	1.0				p.P52P		.											.	TM7SF2-91	0			c.G156C						.	C		2924,8		1458,8,0	2.0	2.0	2.0		156	-9.8	0.0	11	dbSNP_111	2	6426,0		3213,0,0	no	coding-synonymous	TM7SF2	NM_003273.2		4671,8,0	CC,CG,GG		0.0,0.2729,0.0855		52/419	64880090	9350,8	1466	3213	4679	SO:0001819	synonymous_variant	7108	exon2			CCTGCCGGGGCTG	BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"""delta(14)-sterol reductase"""	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.156G>C	11.37:g.64880090G>C		0	0		8	8	NM_003273	0	0	0	0	0	A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Silent	SNP	ENST00000279263.7	37	CCDS41669.1																																																																																			G|0.005;C|0.995		0.756	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385234.1	NM_003273	
FAM86C1	55199	hgsc.bcm.edu	37	11	71498671	71498671	+	Missense_Mutation	SNP	G	G	C	rs12283346	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr11:71498671G>C	ENST00000359244.4	+	1	112	c.89G>C	c.(88-90)cGc>cCc	p.R30P	FAM86C1_ENST00000426628.2_Missense_Mutation_p.R30P|FAM86C1_ENST00000346333.6_Missense_Mutation_p.R30P	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	30			R -> P (in dbSNP:rs12283346). {ECO:0000269|PubMed:14702039}.							lung(1)	1						CGCTCCTTCCGCTGGCAGGTG	0.741													.|||	2261	0.451478	0.3351	0.3516	5008	,	,		10448	0.3452		0.5666	False		,,,				2504	0.6708				p.R30P		.											.	FAM86C1-90	0			c.G89C						.						3.0	3.0	3.0					11																	71498671		1774	3427	5201	SO:0001583	missense	55199	exon1			CCTTCCGCTGGCA	AK130709	CCDS8202.1, CCDS41686.1, CCDS44664.1	11q13.4	2011-07-07	2011-07-07	2011-07-07	ENSG00000158483	ENSG00000158483			25561	protein-coding gene	gene with protein product			"""family with sequence similarity 86, member C"""	FAM86C		12477932	Standard	NM_152563		Approved	FLJ10661, FLJ27199	uc001oqv.4	Q9NVL1	OTTHUMG00000160552	ENST00000359244.4:c.89G>C	11.37:g.71498671G>C	ENSP00000352182:p.Arg30Pro	2	0		15	11	NM_152563	0	0	0	0	0	Q8N5D3	Missense_Mutation	SNP	ENST00000359244.4	37	CCDS41686.1	871	0.39880952380952384	166	0.33739837398373984	136	0.3756906077348066	173	0.30244755244755245	396	0.5224274406332454	.	1.506	-0.550640	0.03996	.	.	ENSG00000158483	ENST00000346333;ENST00000359244;ENST00000426628;ENST00000528685	T;T;T;T	0.08634	3.07;3.07;3.07;3.07	2.47	2.47	0.30058	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	4.000000000004E-6	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.44483	-0.9325	7	0.02654	T	1	.	7.3824	0.26864	0.0:0.7256:0.2744:0.0	rs12283346	30;30;30	G3V0F7;Q9NVL1-2;Q9NVL1	.;.;FA86C_HUMAN	P	30	ENSP00000325662:R30P;ENSP00000352182:R30P;ENSP00000391329:R30P;ENSP00000436598:R30P	ENSP00000325662:R30P	R	+	2	0	FAM86C1	71176319	0.633000	0.27181	0.784000	0.31847	0.041000	0.13682	0.888000	0.28268	0.155000	0.19261	-1.123000	0.02005	CGC	G|0.601;C|0.399		0.741	FAM86C1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361120.1	NM_152563	
INPPL1	3636	broad.mit.edu	37	11	71949087	71949087	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr11:71949087C>A	ENST00000298229.2	+	27	3758	c.3554C>A	c.(3553-3555)gCt>gAt	p.A1185D	PHOX2A_ENST00000544057.1_5'Flank|INPPL1_ENST00000541756.1_Splice_Site_p.A943D|INPPL1_ENST00000538751.1_Splice_Site_p.A943D	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1185					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)	p.A1185D(2)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TTTCCTTAGGCTCCGTGCCTG	0.657											OREG0021191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A1185D		.											.	INPPL1-660	2	Substitution - Missense(2)	urinary_tract(1)|prostate(1)	c.C3554A						.						15.0	17.0	17.0					11																	71949087		2197	4291	6488	SO:0001630	splice_region_variant	3636	exon27			CTTAGGCTCCGTG	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.3553-1C>A	11.37:g.71949087C>A		17	2	1133	41	10	NM_001567	0	0	0	0	0	B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	ENST00000298229.2	37	CCDS8213.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	12.01|12.01	1.810120|1.810120	0.32053|0.32053	.|.	.|.	ENSG00000165458|ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751|ENST00000320683	D;D;D|.	0.96716|.	-2.99;-4.1;-4.1|.	4.69|4.69	2.76|2.76	0.32466|0.32466	.|.	0.083463|.	0.47093|.	D|.	0.000259|.	T|T	0.34600|0.34600	0.0903|0.0903	N|N	0.14661|0.14661	0.345|0.345	0.36357|0.36357	D|D	0.860441|0.860441	P|.	0.44090|.	0.826|.	B|.	0.38655|.	0.278|.	T|T	0.28681|0.28681	-1.0036|-1.0036	10|5	0.44086|.	T|.	0.13|.	.|.	7.041|7.041	0.25021|0.25021	0.0:0.6953:0.1561:0.1486|0.0:0.6953:0.1561:0.1486	.|.	1185|.	O15357|.	SHIP2_HUMAN|.	D|I	1185;943;943|47	ENSP00000298229:A1185D;ENSP00000446360:A943D;ENSP00000444619:A943D|.	ENSP00000298229:A1185D|.	A|L	+|+	2|1	0|0	INPPL1|INPPL1	71626735|71626735	0.671000|0.671000	0.27521|0.27521	1.000000|1.000000	0.80357|0.80357	0.421000|0.421000	0.31385|0.31385	1.197000|1.197000	0.32211|0.32211	1.184000|1.184000	0.42957|0.42957	0.591000|0.591000	0.81541|0.81541	GCT|CTC	.		0.657	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567	Missense_Mutation
B3GNT6	192134	hgsc.bcm.edu	37	11	76751542	76751542	+	Frame_Shift_Del	DEL	T	T	-	rs11292198		TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr11:76751542delT	ENST00000533140.1	+	2	1085	c.947delT	c.(946-948)cttfs	p.L316fs	B3GNT6_ENST00000421061.1_Intron|B3GNT6_ENST00000354301.5_Splice_Site_p.L316fs			O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	0					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						GGCATGTGTCTTGGAGCGCGC	0.741													T|TT|T|insertion	5008	1.0	1.0	1.0	5008	,	,		12582	1.0		1.0	False		,,,				2504	1.0				.		.											.	.	0			c.946+1T>-						.						1.0	1.0	1.0					11																	76751542		431	917	1348	SO:0001589	frameshift_variant	192134	exon2			TGTGTCTTGGAGC	AB073740	CCDS53681.1	11q13.4	2013-02-19			ENSG00000198488	ENSG00000198488		"""Beta 3-glycosyltransferases"""	24141	protein-coding gene	gene with protein product		615315				11821425	Standard	NM_138706		Approved	B3Gn-T6	uc021qnp.1	Q6ZMB0		ENST00000533140.1:c.947delT	11.37:g.76751542delT	ENSP00000435352:p.Leu316fs	0	0		18	18	NM_138706	0	0	0	0	0	Q4TTN0	Splice_Site	DEL	ENST00000533140.1	37	CCDS53681.1																																																																																			.		0.741	B3GNT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382740.2	NM_138706	
KRT75	9119	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	52828026	52828026	+	Silent	SNP	C	C	T			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr12:52828026C>T	ENST00000252245.5	-	1	283	c.63G>A	c.(61-63)tcG>tcA	p.S21S		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	21	Head.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GGGTGATGGCCGAGGTGGTGC	0.677																																					p.S21S		.											.	KRT75-90	0			c.G63A						.						18.0	23.0	21.0					12																	52828026		2164	4252	6416	SO:0001819	synonymous_variant	9119	exon1			GATGGCCGAGGTG	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.63G>A	12.37:g.52828026C>T		35	0		57	17	NM_004693	0	0	0	0	0	B4DQU4|Q9NSA9	Silent	SNP	ENST00000252245.5	37	CCDS8827.1																																																																																			.		0.677	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693	
AMDHD1	144193	hgsc.bcm.edu	37	12	96337183	96337183	+	Missense_Mutation	SNP	A	A	G	rs7955450	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr12:96337183A>G	ENST00000266736.2	+	1	113	c.7A>G	c.(7-9)Agc>Ggc	p.S3G	CCDC38_ENST00000344280.3_5'Flank|CCDC38_ENST00000549752.1_5'Flank|CCDC38_ENST00000546386.1_5'Flank	NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	3			S -> G (in dbSNP:rs7955450). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15221005, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16541075}.		cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						CGACATGGCAAGCGGCCACAG	0.736													G|||	3598	0.71845	0.702	0.6888	5008	,	,		10480	0.9554		0.6004	False		,,,				2504	0.6391				p.S3G		.											.	AMDHD1-90	0			c.A7G						.						2.0	3.0	3.0					12																	96337183		1177	2379	3556	SO:0001583	missense	144193	exon1			ATGGCAAGCGGCC	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.7A>G	12.37:g.96337183A>G	ENSP00000266736:p.Ser3Gly	0	0		31	13	NM_152435	0	0	0	0	0	A8K463|Q68CI8	Missense_Mutation	SNP	ENST00000266736.2	37	CCDS9057.1	1561	0.7147435897435898	348	0.7073170731707317	233	0.643646408839779	540	0.9440559440559441	440	0.5804749340369393	G	5.553	0.286982	0.10513	.	.	ENSG00000139344	ENST00000266736	T	0.30714	1.52	4.39	-8.69	0.00855	.	0.734274	0.13810	N	0.361153	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28427	-1.0044	9	0.21540	T	0.41	.	1.8829	0.03231	0.44:0.0902:0.1959:0.2739	rs7955450;rs17856824;rs58541549;rs7955450	3	Q96NU7	HUTI_HUMAN	G	3	ENSP00000266736:S3G	ENSP00000266736:S3G	S	+	1	0	AMDHD1	94861314	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	-0.592000	0.05747	-2.316000	0.00645	-1.140000	0.01884	AGC	A|0.273;G|0.727		0.736	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435	
AMDHD1	144193	hgsc.bcm.edu	37	12	96337225	96337225	+	Silent	SNP	C	C	T	rs1436121	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr12:96337225C>T	ENST00000266736.2	+	1	155	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L	CCDC38_ENST00000344280.3_5'Flank|CCDC38_ENST00000549752.1_5'Flank|CCDC38_ENST00000546386.1_5'Flank	NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	17					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						GCAAGTGGTGCTGGTGTGCGC	0.741													C|||	1276	0.254792	0.09	0.1297	5008	,	,		11076	0.4732		0.2445	False		,,,				2504	0.3517				p.L17L		.											.	AMDHD1-90	0			c.C49T						.	C		259,2703		9,241,1231	3.0	4.0	4.0		49	1.4	1.0	12	dbSNP_88	4	983,4553		75,833,1860	no	coding-synonymous	AMDHD1	NM_152435.2		84,1074,3091	TT,TC,CC		17.7565,8.7441,14.6152		17/427	96337225	1242,7256	1481	2768	4249	SO:0001819	synonymous_variant	144193	exon1			GTGGTGCTGGTGT	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.49C>T	12.37:g.96337225C>T		0	0		52	25	NM_152435	0	0	0	0	0	A8K463|Q68CI8	Silent	SNP	ENST00000266736.2	37	CCDS9057.1																																																																																			C|0.752;T|0.248		0.741	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435	
ATXN2	6311	hgsc.bcm.edu	37	12	112036797	112036797	+	Silent	SNP	C	C	T	rs4098854	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr12:112036797C>T	ENST00000377617.3	-	1	683	c.522G>A	c.(520-522)caG>caA	p.Q174Q	ATXN2_ENST00000550104.1_Silent_p.Q174Q|ATXN2_ENST00000608853.1_Silent_p.Q14Q|ATXN2_ENST00000389153.4_5'Flank|ATXN2_ENST00000535949.1_Intron|ATXN2_ENST00000542287.2_Intron|RP11-686G8.2_ENST00000547021.1_RNA|ATXN2_ENST00000549455.1_5'UTR	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	174	Poly-Gln.				cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						gctgctgctgctgctgctgct	0.731													C|||	3289	0.656749	0.5734	0.6787	5008	,	,		4944	0.622		0.7167	False		,,,				2504	0.728				p.Q174Q		.											.	ATXN2-136	0			c.G522A						.						1.0	1.0	1.0					12																	112036797		720	1770	2490	SO:0001819	synonymous_variant	6311	exon1			CTGCTGCTGCTGC	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.522G>A	12.37:g.112036797C>T		0	0		7	7	NM_002973	0	0	34	36	2	A6NLD4|Q6ZQZ7|Q99493	Silent	SNP	ENST00000377617.3	37	CCDS31902.1																																																																																			C|0.429;T|0.571		0.731	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973	
FAM101A	144347	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	124798764	124798764	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr12:124798764C>T	ENST00000389727.3	+	3	344	c.344C>T	c.(343-345)tCg>tTg	p.S115L	FAM101A_ENST00000338359.4_Missense_Mutation_p.S34L|FAM101A_ENST00000546355.1_Missense_Mutation_p.S34L|FAM101A_ENST00000324038.3_Missense_Mutation_p.S34L			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	115										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		AAGTACGCCTCGGAGAAGCAT	0.612																																					p.S34L		.											.	FAM101A-68	0			c.C101T						.						60.0	51.0	54.0					12																	124798764		2203	4300	6503	SO:0001583	missense	144347	exon3			ACGCCTCGGAGAA		CCDS9258.1	12q24.31	2012-11-30			ENSG00000178882	ENSG00000178882			27051	protein-coding gene	gene with protein product		615927				12477932	Standard	NM_181709		Approved	FLJ44614	uc001ugd.2	Q6ZTI6	OTTHUMG00000168609	ENST00000389727.3:c.344C>T	12.37:g.124798764C>T	ENSP00000374377:p.Ser115Leu	231	0		502	79	NM_181709	0	0	0	0	0	A5D8T5	Missense_Mutation	SNP	ENST00000389727.3	37		.	.	.	.	.	.	.	.	.	.	C	24.7	4.560963	0.86335	.	.	ENSG00000178882	ENST00000324038;ENST00000541200;ENST00000389727;ENST00000546355;ENST00000338359	.	.	.	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.80607	0.4655	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84257	0.0481	9	0.87932	D	0	-3.1421	17.6136	0.88061	0.0:1.0:0.0:0.0	.	115	Q6ZTI6	F101A_HUMAN	L	34;34;115;34;34	.	ENSP00000315626:S34L	S	+	2	0	FAM101A	123364717	1.000000	0.71417	0.698000	0.30274	0.609000	0.37215	7.327000	0.79147	2.148000	0.66965	0.555000	0.69702	TCG	.		0.612	FAM101A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_181709	
TUBA3C	7278	bcgsc.ca	37	13	19751262	19751262	+	Silent	SNP	G	G	A	rs117337915		TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr13:19751262G>A	ENST00000400113.3	-	4	965	c.861C>T	c.(859-861)tcC>tcT	p.S287S		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	287					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TCTCAGCCACGGACAGCTGCT	0.602																																					p.S287S		.											.	TUBA3C-95	0			c.C861T						.																																			SO:0001819	synonymous_variant	7278	exon4			AGCCACGGACAGC	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.861C>T	13.37:g.19751262G>A		253	4		215	25	NM_006001	0	0	0	0	0	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000400113.3	37	CCDS9284.1																																																																																			G|0.999;A|0.001		0.602	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001	
UBL3	5412	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	30346294	30346294	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr13:30346294G>T	ENST00000380680.4	-	3	1323	c.178C>A	c.(178-180)Ctt>Att	p.L60I		NM_007106.3	NP_009037.1	O95164	UBL3_HUMAN	ubiquitin-like 3	60	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				large_intestine(3)|lung(1)	4		Lung SC(185;0.0281)		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)		TGATAAATAAGTCGTAGAATA	0.383																																					p.L60I		.											.	UBL3-90	0			c.C178A						.						148.0	135.0	140.0					13																	30346294		2203	4300	6503	SO:0001583	missense	5412	exon3			AAATAAGTCGTAG	AF044221	CCDS9334.1	13q12-q13	2008-07-18			ENSG00000122042	ENSG00000122042			12504	protein-coding gene	gene with protein product		604711		PNSC1		10375635	Standard	NM_007106		Approved	HCG-1, DKFZP434K151, FLJ32018	uc001usp.3	O95164	OTTHUMG00000016661	ENST00000380680.4:c.178C>A	13.37:g.30346294G>T	ENSP00000370055:p.Leu60Ile	71	0		29	12	NM_007106	0	0	0	0	0	B2R4J1|Q5RL72|Q5VZS0|Q6FIG8|Q96SG7	Missense_Mutation	SNP	ENST00000380680.4	37	CCDS9334.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.974104	0.92919	.	.	ENSG00000122042	ENST00000380680	.	.	.	6.07	6.07	0.98685	Ubiquitin supergroup (1);	0.000000	0.85682	D	0.000000	D	0.82751	0.5105	M	0.75884	2.315	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	T	0.82384	-0.0484	9	0.59425	D	0.04	-18.4818	19.6407	0.95757	0.0:0.0:1.0:0.0	.	60	O95164	UBL3_HUMAN	I	60	.	ENSP00000370055:L60I	L	-	1	0	UBL3	29244294	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.127000	0.94417	2.890000	0.99128	0.585000	0.79938	CTT	.		0.383	UBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044342.1	NM_007106	
SOHLH2	54937	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	36748932	36748932	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr13:36748932G>A	ENST00000379881.3	-	7	804	c.716C>T	c.(715-717)gCt>gTt	p.A239V	SOHLH2_ENST00000554962.1_Missense_Mutation_p.A316V|CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.A316V	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	239	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		AAGAACTGAAGCCGCATCATT	0.418																																					p.A316V		.											.	.	0			c.C947T						.						87.0	86.0	86.0					13																	36748932		2203	4300	6503	SO:0001583	missense	100526761	exon12			ACTGAAGCCGCAT	AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"""Basic helix-loop-helix proteins"""	26026	protein-coding gene	gene with protein product	"""spermatogenesis associated 28"""					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.716C>T	13.37:g.36748932G>A	ENSP00000369210:p.Ala239Val	109	0		68	17	NM_001198910	0	0	0	0	0	B4DX90|Q5EGC3|Q8TC74|Q96QX4	Missense_Mutation	SNP	ENST00000379881.3	37	CCDS9355.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419317	0.62622	.	.	ENSG00000120669;ENSG00000120669;ENSG00000250709	ENST00000379881;ENST00000554962;ENST00000511166	D;D;D	0.98234	-4.81;-4.81;-4.81	5.11	5.11	0.69529	Helix-loop-helix DNA-binding (5);	0.096496	0.45867	D	0.000325	D	0.98317	0.9442	L	0.49256	1.55	0.36403	D	0.863257	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99963	1.1785	10	0.87932	D	0	-18.2026	14.041	0.64674	0.0:0.0:1.0:0.0	.	316;239	B4DX90;Q9NX45	.;SOLH2_HUMAN	V	239;316;316	ENSP00000369210:A239V;ENSP00000451542:A316V;ENSP00000421868:A316V	ENSP00000421868:A316V	A	-	2	0	CCDC169-SOHLH2;SOHLH2	35646932	1.000000	0.71417	0.402000	0.26371	0.269000	0.26545	4.800000	0.62524	2.392000	0.81423	0.650000	0.86243	GCT	.		0.418	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044477.2	NM_017826	
RTN1	6252	broad.mit.edu;bcgsc.ca	37	14	60194375	60194375	+	Missense_Mutation	SNP	C	C	G	rs1132362	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr14:60194375C>G	ENST00000267484.5	-	3	1362	c.1027G>C	c.(1027-1029)Gca>Cca	p.A343P		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	343					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TGGGATTCTGCAGCAGATGGT	0.542													C|||	9	0.00179712	0.0008	0.0029	5008	,	,		18422	0.0		0.005	False		,,,				2504	0.001				p.A343P		.											.	RTN1-516	0			c.G1027C						.	C	PRO/ALA,	21,4371		0,21,2175	23.0	21.0	22.0		1027,	4.6	1.0	14	dbSNP_132	22	122,8382		0,122,4130	yes	missense,utr-5	RTN1	NM_021136.2,NM_206857.1	27,	0,143,6305	GG,GC,CC		1.4346,0.4781,1.1089	possibly-damaging,	343/777,	60194375	143,12753	2196	4252	6448	SO:0001583	missense	6252	exon3			ATTCTGCAGCAGA	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1027G>C	14.37:g.60194375C>G	ENSP00000267484:p.Ala343Pro	83	0		82	4	NM_021136	0	0	0	0	0	Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	CCDS9740.1	7	0.003205128205128205	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	5	0.006596306068601583	C	14.58	2.578792	0.46006	0.004781	0.014346	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.24908	1.83	5.53	4.56	0.56223	.	0.632124	0.16729	N	0.201940	T	0.14787	0.0357	L	0.36672	1.1	0.36841	D	0.887394	B	0.06786	0.001	B	0.04013	0.001	T	0.06006	-1.0851	10	0.37606	T	0.19	.	11.0512	0.47893	0.4113:0.5887:0.0:0.0	rs1132362	343	Q16799	RTN1_HUMAN	P	343;269	ENSP00000267484:A343P	ENSP00000267484:A343P	A	-	1	0	RTN1	59264128	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.319000	0.43788	2.603000	0.88011	0.609000	0.83330	GCA	C|0.988;G|0.012		0.542	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2		
TMEM63C	57156	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	77723002	77723002	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr14:77723002C>T	ENST00000298351.4	+	24	2498	c.2354C>T	c.(2353-2355)gCg>gTg	p.A785V		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	785					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		AGGGGCTTTGCGAGGGAGCTA	0.612																																					p.A785V		.											.	.	0			c.C2354T						.						103.0	113.0	110.0					14																	77723002		1981	4165	6146	SO:0001583	missense	57156	exon24			GCTTTGCGAGGGA		CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"""calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"""		"""chromosome 14 open reading frame 171"""	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.2354C>T	14.37:g.77723002C>T	ENSP00000298351:p.Ala785Val	132	0		142	36	NM_020431	0	0	0	0	0	B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Missense_Mutation	SNP	ENST00000298351.4	37	CCDS45141.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.290084	0.23478	.	.	ENSG00000165548	ENST00000298351;ENST00000536110	T	0.18502	2.21	4.84	3.88	0.44766	.	0.585786	0.16217	N	0.224207	T	0.09774	0.0240	N	0.22421	0.69	0.18873	N	0.999983	B	0.34241	0.444	B	0.21917	0.037	T	0.17258	-1.0375	10	0.37606	T	0.19	-6.2036	10.0249	0.42066	0.3186:0.6814:0.0:0.0	.	785	Q9P1W3	TM63C_HUMAN	V	785;355	ENSP00000298351:A785V	ENSP00000298351:A785V	A	+	2	0	TMEM63C	76792755	0.105000	0.21958	0.781000	0.31783	0.087000	0.18053	1.456000	0.35201	2.232000	0.73038	0.655000	0.94253	GCG	.		0.612	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414193.1		
FLRT2	23768	bcgsc.ca	37	14	86089315	86089315	+	Missense_Mutation	SNP	G	G	A	rs17646457	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr14:86089315G>A	ENST00000330753.4	+	2	2224	c.1457G>A	c.(1456-1458)cGa>cAa	p.R486Q	FLRT2_ENST00000554746.1_Missense_Mutation_p.R486Q	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	486	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> Q (in dbSNP:rs17646457). {ECO:0000269|PubMed:15489334}.		axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.R486Q(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTAGAGCCCCGATCCACCTAT	0.522													G|||	594	0.11861	0.0189	0.2118	5008	,	,		17172	0.0605		0.1481	False		,,,				2504	0.2168				p.R486Q		.											.	FLRT2-94	1	Substitution - Missense(1)	stomach(1)	c.G1457A						.	G	GLN/ARG	151,4255	103.0+/-141.5	1,149,2053	149.0	130.0	136.0		1457	2.9	1.0	14	dbSNP_123	136	1287,7313	255.8+/-280.5	107,1073,3120	yes	missense	FLRT2	NM_013231.4	43	108,1222,5173	AA,AG,GG		14.9651,3.4271,11.0564	benign	486/661	86089315	1438,11568	2203	4300	6503	SO:0001583	missense	23768	exon2			AGCCCCGATCCAC	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1457G>A	14.37:g.86089315G>A	ENSP00000332879:p.Arg486Gln	261	3		255	8	NM_013231	0	0	0	0	0	A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	CCDS9877.1	224	0.10256410256410256	13	0.026422764227642278	65	0.17955801104972377	36	0.06293706293706294	110	0.14511873350923482	G	9.487	1.099582	0.20552	0.034271	0.149651	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.56776	0.44;0.44	5.87	2.87	0.33458	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.339988	0.32120	N	0.006545	T	0.00073	0.0002	N	0.19112	0.55	0.28600	P	0.9092117	B	0.11235	0.004	B	0.09377	0.004	T	0.09079	-1.0691	9	0.21540	T	0.41	-5.0916	5.9999	0.19515	0.4962:0.0:0.5038:0.0	rs17646457;rs52800076;rs17646457	486	O43155	FLRT2_HUMAN	Q	486;486;139	ENSP00000332879:R486Q;ENSP00000451050:R486Q	ENSP00000332879:R486Q	R	+	2	0	FLRT2	85159068	1.000000	0.71417	0.989000	0.46669	0.367000	0.29736	3.060000	0.49955	0.865000	0.35603	0.655000	0.94253	CGA	G|0.899;A|0.101		0.522	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1		
MPI	4351	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	75185139	75185139	+	Silent	SNP	A	A	G			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr15:75185139A>G	ENST00000352410.4	+	4	550	c.483A>G	c.(481-483)ctA>ctG	p.L161L	MPI_ENST00000563422.1_Silent_p.L161L|MPI_ENST00000564003.1_Silent_p.L111L|MPI_ENST00000566377.1_Silent_p.L161L|MPI_ENST00000535694.1_Silent_p.L111L|MPI_ENST00000323744.6_Silent_p.L161L|MPI_ENST00000562606.1_Silent_p.L141L|MPI_ENST00000563786.1_Silent_p.L141L|MPI_ENST00000565576.1_Silent_p.L161L			P34949	MPI_HUMAN	mannose phosphate isomerase	161					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	mannose-6-phosphate isomerase activity (GO:0004476)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						TAACCTTTCTAAAGAGTAAGT	0.547																																					p.L161L		.											.	MPI-92	0			c.A483G						.						72.0	74.0	73.0					15																	75185139		2197	4295	6492	SO:0001819	synonymous_variant	4351	exon4			CTTTCTAAAGAGT		CCDS10272.1, CCDS73756.1, CCDS73757.1, CCDS73758.1	15q24.1	2013-09-19			ENSG00000178802	ENSG00000178802	5.3.1.8		7216	protein-coding gene	gene with protein product	"""mannose-6-phosphate isomerase"""	154550					Standard	NM_002435		Approved		uc002azc.1	P34949	OTTHUMG00000142826	ENST00000352410.4:c.483A>G	15.37:g.75185139A>G		128	0		103	33	NM_002435	0	0	0	0	0	A8K8K9|Q96AB0	Silent	SNP	ENST00000352410.4	37	CCDS10272.1																																																																																			.		0.547	MPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286418.4		
PKD1	5310	hgsc.bcm.edu	37	16	2140972	2140972	+	Silent	SNP	G	G	A	rs77634115	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr16:2140972G>A	ENST00000262304.4	-	43	12124	c.11916C>T	c.(11914-11916)cgC>cgT	p.R3972R	MIR1225_ENST00000408729.1_RNA|RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Silent_p.R3971R	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3972					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TAGTGAAGCGGCGCGGGCGGC	0.721													g|||	25	0.00499201	0.0023	0.0014	5008	,	,		9103	0.0		0.0189	False		,,,				2504	0.002				p.R3972R		.											.	PKD1-91	0			c.C11916T						.		,	25,3925		0,25,1950	4.0	6.0	5.0		11913,11916	3.1	0.2	16	dbSNP_133	5	214,7538		0,214,3662	no	coding-synonymous,coding-synonymous	PKD1	NM_000296.3,NM_001009944.2	,	0,239,5612	AA,AG,GG		2.7606,0.6329,2.0424	,	3971/4303,3972/4304	2140972	239,11463	1975	3876	5851	SO:0001819	synonymous_variant	5310	exon43			GAAGCGGCGCGGG	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.11916C>T	16.37:g.2140972G>A		1	0		22	12	NM_001009944	0	0	4	8	4	Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	CCDS32369.1																																																																																			G|0.989;A|0.011		0.721	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1		
CEMP1	752014	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	2580311	2580311	+	3'UTR	SNP	G	G	C			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr16:2580311G>C	ENST00000567119.1	-	0	1098				AMDHD2_ENST00000302956.4_3'UTR|MIR3178_ENST00000581887.1_RNA|AMDHD2_ENST00000565570.1_3'UTR|CEMP1_ENST00000382350.1_3'UTR|AMDHD2_ENST00000413459.3_Missense_Mutation_p.E446Q	NM_001048212.3	NP_001041677.1	Q6PRD7	CEMP1_HUMAN	cementum protein 1							cytoplasm (GO:0005737)				lung(1)|skin(1)	2						GGCAGTATGGGAGGCACCAGT	0.587																																					p.E446Q		.											.	AMDHD2-155	0			c.G1336C						.						55.0	61.0	59.0					16																	2580311		2142	4248	6390	SO:0001624	3_prime_UTR_variant	51005	exon11			GTATGGGAGGCAC	AY584596	CCDS42108.1	16p13.3	2006-09-22							32553	protein-coding gene	gene with protein product	"""cementum protein-23"""	611113				16263347	Standard	NM_001048212		Approved	CP-23	uc002cqr.3	Q6PRD7		ENST00000567119.1:c.*20C>G	16.37:g.2580311G>C		62	0		144	31	NM_001145815	0	0	13	13	0	B2RUY1	Missense_Mutation	SNP	ENST00000567119.1	37	CCDS42108.1	.	.	.	.	.	.	.	.	.	.	G	9.936	1.216247	0.22373	.	.	ENSG00000162066	ENST00000413459	.	.	.	1.92	-3.6	0.04570	.	.	.	.	.	T	0.14013	0.0339	N	0.08118	0	0.09310	N	1	B	0.20368	0.044	B	0.12156	0.007	T	0.18618	-1.0331	8	0.87932	D	0	-23.2471	0.3452	0.00340	0.2875:0.1971:0.3159:0.1996	.	446	Q9Y303-3	.	Q	446	.	ENSP00000391596:E446Q	E	+	1	0	AMDHD2	2520312	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.514000	0.06298	-0.933000	0.03737	-0.314000	0.08810	GAG	.		0.587	CEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435686.1	NM_001048212	
IST1	9798	ucsc.edu	37	16	71956529	71956529	+	Silent	SNP	C	C	T	rs28701631	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr16:71956529C>T	ENST00000378799.6	+	7	1061	c.705C>T	c.(703-705)ccC>ccT	p.P235P	RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000541571.2_Silent_p.P235P|IST1_ENST00000538850.1_Silent_p.P87P|IST1_ENST00000544564.1_Silent_p.P235P|IST1_ENST00000535424.1_Silent_p.P248P|IST1_ENST00000329908.8_Silent_p.P235P|IST1_ENST00000606369.1_Silent_p.P87P|IST1_ENST00000538565.1_3'UTR|IST1_ENST00000378798.5_Silent_p.P235P			P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	233	Interaction with VPS37B.|Interaction with VTA1.				abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of proteolysis (GO:0045862)|protein localization (GO:0008104)|viral capsid secondary envelopment (GO:0046745)|viral release from host cell (GO:0019076)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|midbody (GO:0030496)	MIT domain binding (GO:0090541)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)										tgcccatgcccatgcctatgc	0.483													C|||	230	0.0459265	0.0197	0.0274	5008	,	,		18639	0.0258		0.0427	False		,,,				2504	0.1186				p.P248P		.											.	.	0			c.C744T						.						101.0	73.0	83.0					16																	71956529		2198	4300	6498	SO:0001819	synonymous_variant	9798	exon8			CATGCCCATGCCT	BC004359	CCDS10905.1, CCDS59271.1, CCDS59272.1, CCDS59273.1, CCDS59274.1	16q22.2	2011-08-18	2011-08-18	2011-08-18	ENSG00000182149	ENSG00000182149			28977	protein-coding gene	gene with protein product			"""KIAA0174"""	KIAA0174		8724849, 19129480	Standard	NM_001270975		Approved		uc002fbm.2	P53990	OTTHUMG00000137597	ENST00000378799.6:c.705C>T	16.37:g.71956529C>T		86	1		131	15	NM_001270976	0	0	1	1	0	A8KAH5|J3QLU7|Q3SYM4|Q9BQ81|Q9BWN2	Silent	SNP	ENST00000378799.6	37	CCDS59272.1	58	0.026556776556776556	9	0.018292682926829267	10	0.027624309392265192	25	0.043706293706293704	14	0.018469656992084433	C	6.629	0.484439	0.12641	.	.	ENSG00000182149	ENST00000541848	.	.	.	.	.	.	.	0.095345	0.85682	D	0.000000	T	0.22551	0.0544	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.12967	-1.0527	4	0.26408	T	0.33	-5.2082	.	.	.	rs28701631	.	.	.	L	122	.	ENSP00000437499:P122L	P	+	2	0	KIAA0174	70514030	0.004000	0.15560	0.997000	0.53966	0.971000	0.66376	-3.311000	0.00517	0.361000	0.24292	0.366000	0.22137	CCA	C|0.988;T|0.012		0.483	IST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269005.2	NM_014761	
FA2H	79152	broad.mit.edu;bcgsc.ca	37	16	74752999	74752999	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr16:74752999G>A	ENST00000219368.3	-	5	742	c.673C>T	c.(673-675)Ctc>Ttc	p.L225F	FA2H_ENST00000544337.1_Missense_Mutation_p.L12F	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	225					cell death (GO:0008219)|central nervous system myelin maintenance (GO:0032286)|fatty acid biosynthetic process (GO:0006633)|lipid modification (GO:0030258)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of cell proliferation (GO:0042127)|regulation of hair cycle (GO:0042634)|sebaceous gland cell differentiation (GO:0001949)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	fatty acid alpha-hydroxylase activity (GO:0080132)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						AGGCTCCAGAGGAATGTCCCC	0.592																																					p.L225F		.											.	FA2H-90	0			c.C673T						.						89.0	75.0	80.0					16																	74752999		2198	4300	6498	SO:0001583	missense	79152	exon5			TCCAGAGGAATGT	BC002679	CCDS10911.1	16q23	2013-03-04	2003-10-29	2003-10-31	ENSG00000103089	ENSG00000103089		"""Fatty acid hydroxylase domain containing"""	21197	protein-coding gene	gene with protein product	"""fatty acid hydroxylase"""	611026	"""fatty acid hydroxylase domain containing 1"", ""spastic paraplegia 35 (autosomal recessive)"""	FAXDC1, SPG35		20104589	Standard	NM_024306		Approved	FAAH, FLJ25287	uc002fde.2	Q7L5A8	OTTHUMG00000137603	ENST00000219368.3:c.673C>T	16.37:g.74752999G>A	ENSP00000219368:p.Leu225Phe	107	0		170	6	NM_024306	0	0	0	0	0	B7Z8T6|O75213|Q96DK1|Q9H1A5	Missense_Mutation	SNP	ENST00000219368.3	37	CCDS10911.1	.	.	.	.	.	.	.	.	.	.	G	8.045	0.764744	0.15914	.	.	ENSG00000103089	ENST00000219368;ENST00000544337	D;D	0.85556	-2.0;-2.0	5.57	-2.13	0.07144	Fatty acid hydroxylase (1);	0.649214	0.15902	N	0.239032	T	0.72145	0.3424	L	0.46741	1.465	0.26180	N	0.979737	B	0.20368	0.044	B	0.25987	0.065	T	0.54476	-0.8288	10	0.10636	T	0.68	-3.446	2.0439	0.03556	0.1979:0.0939:0.327:0.3812	.	225	Q7L5A8	FA2H_HUMAN	F	225;12	ENSP00000219368:L225F;ENSP00000442334:L12F	ENSP00000219368:L225F	L	-	1	0	FA2H	73310500	0.988000	0.35896	0.057000	0.19452	0.249000	0.25844	0.200000	0.17257	-0.199000	0.10317	-0.310000	0.09108	CTC	.		0.592	FA2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269015.2	NM_024306	
CDH13	1012	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	83378514	83378514	+	Silent	SNP	G	G	T	rs201452763		TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr16:83378514G>T	ENST00000566620.1	+	6	974	c.684G>T	c.(682-684)ccG>ccT	p.P228P	CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000268613.10_Silent_p.P275P|CDH13_ENST00000428848.3_Silent_p.P189P	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	228	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TCGAGGGGCCGGTGCCTCTGG	0.473																																					p.P275P		.											.	CDH13-67	0			c.G825T						.						84.0	86.0	85.0					16																	83378514		1874	4096	5970	SO:0001819	synonymous_variant	1012	exon7			GGGGCCGGTGCCT	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.684G>T	16.37:g.83378514G>T		69	0		114	17	NM_001220488	0	0	0	0	0	A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Silent	SNP	ENST00000566620.1	37	CCDS58486.1																																																																																			.		0.473	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257	
ZFPM1	161882	hgsc.bcm.edu	37	16	88599697	88599705	+	In_Frame_Del	DEL	AGCCTCTGG	AGCCTCTGG	-	rs67873604|rs149145771|rs368520732|rs67322929|rs201915453|rs67712719	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	AGCCTCTGG	AGCCTCTGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr16:88599697_88599705delAGCCTCTGG	ENST00000319555.3	+	10	1653_1661	c.1331_1339delAGCCTCTGG	c.(1330-1341)gagcctctggcc>gcc	p.EPL444del	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	444				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCCAGAGCGGAGCCTCTGGCCCAGAATGG	0.746																																					p.444_447del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1331_1339del						.																																			SO:0001651	inframe_deletion	161882	exon10			GAGCGGAGCCTCT	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1331_1339delAGCCTCTGG	16.37:g.88599697_88599705delAGCCTCTGG	ENSP00000326630:p.Glu444_Leu446del	4	0		29	0	NM_153813	0	0	0	0	0		In_Frame_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.746	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2		
DOC2B	8447	broad.mit.edu;bcgsc.ca	37	17	6115	6115	+	Silent	SNP	G	G	C	rs61739713	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr17:6115G>C	ENST00000343572.7	-	6	975	c.819C>G	c.(817-819)tcC>tcG	p.S273S	AC108004.5_ENST00000583926.1_RNA	NM_003585.3	NP_003576	Q14184	DOC2B_HUMAN	double C2-like domains, beta	273	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Mediates interaction with STXBP3. {ECO:0000250}.				calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of insulin secretion (GO:0032024)|positive regulation of vesicle fusion (GO:0031340)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			endometrium(2)|ovary(1)	3						TGTACTTGAGGGAGATGAGGA	0.632													G|||	3628	0.724441	0.5212	0.804	5008	,	,		18786	0.8591		0.7326	False		,,,				2504	0.7955				p.S273S		.											.	.	0			c.C819G						.	G		796,588		227,342,123	87.0	97.0	94.0		819	1.5	1.0	17	dbSNP_129	94	2343,839		864,615,112	no	coding-synonymous	DOC2B	NM_003585.3		1091,957,235	CC,CG,GG		26.3671,42.4855,31.2527		273/413	6115	3139,1427	692	1591	2283	SO:0001819	synonymous_variant	8447	exon6			CTTGAGGGAGATG	D70830	CCDS73934.1	17p13.3	2014-07-16			ENSG00000272636	ENSG00000272636		"""Synaptotagmins"""	2986	protein-coding gene	gene with protein product		604568	"""double C2-like domains, beta-like"""	DOC2BL		7826360	Standard	NM_003585		Approved		uc010vpx.1	Q14184	OTTHUMG00000154415	ENST00000343572.7:c.819C>G	17.37:g.6115G>C		133	1		167	7	NM_003585	0	0	0	0	0		Silent	SNP	ENST00000343572.7	37																																																																																				T|0.000;G|0.718;C|0.281		0.632	DOC2B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335122.3	NM_003585	
CTDNEP1	23399	bcgsc.ca	37	17	7149369	7149369	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr17:7149369G>T	ENST00000573600.1	-	7	986	c.565C>A	c.(565-567)Cca>Aca	p.P189T	CTDNEP1_ENST00000574322.1_Missense_Mutation_p.P189T|CTD-2545G14.7_ENST00000570760.2_5'Flank|CTDNEP1_ENST00000572043.1_Missense_Mutation_p.P56T|CTDNEP1_ENST00000318988.6_Missense_Mutation_p.P189T			O95476	CNEP1_HUMAN	CTD nuclear envelope phosphatase 1	189	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				gamete generation (GO:0007276)|mesoderm development (GO:0007498)|nuclear envelope organization (GO:0006998)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of triglyceride biosynthetic process (GO:0010867)|protein dephosphorylation (GO:0006470)|protein localization to nucleus (GO:0034504)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|Nem1-Spo7 phosphatase complex (GO:0071595)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	15						TAAGCCCCTGGGGAGTTATCC	0.557																																					p.P189T		.											.	CTDNEP1-91	0			c.C565A						.						70.0	67.0	68.0					17																	7149369		2203	4300	6503	SO:0001583	missense	23399	exon6			CCCCTGGGGAGTT	AJ011916	CCDS11093.1	17p13	2012-11-27	2010-10-27	2010-10-27	ENSG00000175826	ENSG00000175826		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	19085	protein-coding gene	gene with protein product	"""C-terminal domain nuclear envelope phosphatase 1"""	610684	"""dullard homolog (Xenopus laevis)"""	DULLARD		12083771, 17141153	Standard	NM_015343		Approved	HSA011916, NET56	uc002gfd.2	O95476	OTTHUMG00000102180	ENST00000573600.1:c.565C>A	17.37:g.7149369G>T	ENSP00000461749:p.Pro189Thr	99	0		76	4	NM_001143775	0	0	26	26	0	D3DTN7|Q96GQ9	Missense_Mutation	SNP	ENST00000573600.1	37	CCDS11093.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253948	0.80135	.	.	ENSG00000175826	ENST00000318988	T	0.21031	2.03	5.02	5.02	0.67125	NLI interacting factor (3);Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.56934	0.2019	M	0.93150	3.385	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	T	0.68876	-0.5293	10	0.87932	D	0	-4.9166	15.8796	0.79193	0.0:0.0:1.0:0.0	.	189	O95476	CNEP1_HUMAN	T	189	ENSP00000321732:P189T	ENSP00000321732:P189T	P	-	1	0	CTDNEP1	7090093	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.120000	0.89581	2.608000	0.88229	0.591000	0.81541	CCA	.		0.557	CTDNEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440215.1	NM_015343	
RNF222	643904	hgsc.bcm.edu	37	17	8296383	8296383	+	Missense_Mutation	SNP	C	C	T	rs12601362	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr17:8296383C>T	ENST00000399398.2	-	3	705	c.397G>A	c.(397-399)Gcc>Acc	p.A133T	RNF222_ENST00000344001.3_Missense_Mutation_p.A133T	NM_001146684.2	NP_001140156.1	A6NCQ9	RN222_HUMAN	ring finger protein 222	133						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)	1						GGGAGCTGGGCGCTctggccc	0.721													C|||	918	0.183307	0.118	0.1657	5008	,	,		14126	0.1954		0.2346	False		,,,				2504	0.2188				p.A133T		.											.	RNF222-68	0			c.G397A						.	C	THR/ALA	123,941		12,99,421	2.0	4.0	3.0		397	-3.4	0.0	17	dbSNP_120	3	556,2088		72,412,838	no	missense	RNF222	NM_001146684.2	58	84,511,1259	TT,TC,CC		21.0287,11.5602,18.3118	benign	133/221	8296383	679,3029	532	1322	1854	SO:0001583	missense	643904	exon3			GCTGGGCGCTCTG		CCDS45608.1	17p13.1	2013-01-09			ENSG00000189051	ENSG00000189051		"""RING-type (C3HC4) zinc fingers"""	34517	protein-coding gene	gene with protein product							Standard	NM_001146684		Approved		uc010vuy.1	A6NCQ9	OTTHUMG00000132049	ENST00000399398.2:c.397G>A	17.37:g.8296383C>T	ENSP00000382330:p.Ala133Thr	0	0		12	12	NM_001146684	0	0	0	0	0		Missense_Mutation	SNP	ENST00000399398.2	37	CCDS45608.1	416	0.19047619047619047	69	0.1402439024390244	68	0.1878453038674033	102	0.17832167832167833	177	0.23350923482849603	C	2.546	-0.305162	0.05495	0.115602	0.210287	ENSG00000189051	ENST00000344001;ENST00000399398	.	.	.	4.22	-3.43	0.04810	.	1.112540	0.06977	N	0.819153	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.06786	0.001	B	0.01281	0.0	T	0.34254	-0.9836	8	0.52906	T	0.07	-18.9555	2.2125	0.03951	0.1223:0.447:0.1198:0.3109	rs12601362	133	A6NCQ9	RN222_HUMAN	T	133	.	ENSP00000343799:A133T	A	-	1	0	RNF222	8237108	0.001000	0.12720	0.000000	0.03702	0.224000	0.24922	-0.068000	0.11561	-0.331000	0.08501	0.549000	0.68633	GCC	C|0.808;T|0.192		0.721	RNF222-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255072.2	NM_001146684.2	
MYH8	4626	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	10310241	10310241	+	Missense_Mutation	SNP	C	C	T	rs121434590		TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr17:10310241C>T	ENST00000403437.2	-	18	2115	c.2021G>A	c.(2020-2022)cGg>cAg	p.R674Q	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	674	Actin-binding.|Myosin motor.		R -> Q (in CACOV and DA7; dbSNP:rs28932773). {ECO:0000269|PubMed:15282353, ECO:0000269|PubMed:20949528}.		ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AATGATACACCGTACGAAGTG	0.378									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																												p.R674Q		.											.	MYH8-101	0			c.G2021A	GRCh37	CM042090	MYH8	M	rs121434590	.						103.0	93.0	97.0					17																	10310241		2203	4300	6503	SO:0001583	missense	4626	exon18	Familial Cancer Database	Carney Complex Variant	ATACACCGTACGA		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2021G>A	17.37:g.10310241C>T	ENSP00000384330:p.Arg674Gln	139	0		116	27	NM_002472	0	0	0	0	0	Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	34	5.371215	0.95923	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.90563	-2.69	5.07	5.07	0.68467	Myosin head, motor domain (2);	0.000000	0.39909	U	0.001235	D	0.97576	0.9206	H	0.99058	4.415	0.58432	A	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99107	1.0845	9	0.87932	D	0	.	18.6502	0.91428	0.0:1.0:0.0:0.0	rs28932773	674	P13535	MYH8_HUMAN	Q	674	ENSP00000384330:R674Q	ENSP00000252173:R674Q	R	-	2	0	MYH8	10250966	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.534000	0.82004	2.652000	0.90054	0.650000	0.86243	CGG	.		0.378	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	
EPN3	55040	broad.mit.edu	37	17	48614456	48614456	+	Missense_Mutation	SNP	G	G	A	rs149893296	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr17:48614456G>A	ENST00000268933.3	+	2	1118	c.539G>A	c.(538-540)cGg>cAg	p.R180Q	EPN3_ENST00000541226.1_Missense_Mutation_p.R124Q|EPN3_ENST00000537145.1_Missense_Mutation_p.R235Q|RP11-94C24.8_ENST00000513017.1_RNA	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	180						clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			AGCCGCTCCCGGGGCTCCCCG	0.657													G|||	16	0.00319489	0.0	0.0029	5008	,	,		16174	0.0		0.0099	False		,,,				2504	0.0041				p.R180Q		.											.	EPN3-91	0			c.G539A						.	G	GLN/ARG	2,4060		0,2,2029	10.0	11.0	10.0		539	1.9	0.0	17	dbSNP_134	10	39,8083		0,39,4022	yes	missense	EPN3	NM_017957.2	43	0,41,6051	AA,AG,GG		0.4802,0.0492,0.3365	possibly-damaging	180/633	48614456	41,12143	2031	4061	6092	SO:0001583	missense	55040	exon2			GCTCCCGGGGCTC	AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.539G>A	17.37:g.48614456G>A	ENSP00000268933:p.Arg180Gln	68	0		94	4	NM_017957	0	0	0	0	0	A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Missense_Mutation	SNP	ENST00000268933.3	37	CCDS11570.1	6	0.0027472527472527475	0	0.0	0	0.0	0	0.0	6	0.0079155672823219	G	18.06	3.539724	0.65085	4.92E-4	0.004802	ENSG00000049283	ENST00000268933;ENST00000442715;ENST00000537145;ENST00000541226;ENST00000411703	T;T;T	0.48836	2.35;2.39;0.8	5.07	1.87	0.25490	.	0.523762	0.17802	N	0.161533	T	0.49389	0.1554	L	0.56769	1.78	0.09310	N	1	D;D;P	0.89917	1.0;1.0;0.796	D;D;B	0.85130	0.996;0.997;0.194	T	0.48091	-0.9065	10	0.14252	T	0.57	-4.0309	9.5206	0.39133	0.2441:0.0:0.7559:0.0	.	235;235;180	B4DK18;F6QWW5;Q9H201	.;.;EPN3_HUMAN	Q	180;235;235;124;180	ENSP00000268933:R180Q;ENSP00000439512:R235Q;ENSP00000440540:R124Q	ENSP00000268933:R180Q	R	+	2	0	EPN3	45969455	0.651000	0.27340	0.000000	0.03702	0.015000	0.08874	3.797000	0.55514	0.131000	0.18576	0.561000	0.74099	CGG	G|0.996;A|0.004		0.657	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	NM_017957	
MEX3C	51320	hgsc.bcm.edu	37	18	48723146	48723154	+	Intron	DEL	GCCGCCGCG	GCCGCCGCG	-	rs78074704|rs530394988|rs147438518|rs201868643|rs62092914|rs530602218	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	GCCGCCGCG	GCCGCCGCG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr18:48723146_48723154delGCCGCCGCG	ENST00000591040.1	-	2	43				MEX3C_ENST00000592416.1_5'Flank			Q5U5Q3	MEX3C_HUMAN	mex-3 RNA binding family member C						chondrocyte hypertrophy (GO:0003415)|energy homeostasis (GO:0097009)|regulation of fat cell differentiation (GO:0045598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		CCccgccgccgccgccgcggccgccgccT	0.78																																					p.179_182del		.											.	MEX3C-659	0			c.537_545del						.			429,1467		144,141,663						-0.2	0.9		dbSNP_131	4	2100,2286		804,492,897	no	coding	MEX3C	NM_016626.4		948,633,1560	A1A1,A1R,RR		47.8796,22.6266,40.2579				2529,3753				SO:0001627	intron_variant	51320	exon1			GCCGCCGCCGCCG	BC041122	CCDS11951.2	18q21.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000176624	ENSG00000176624		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	28040	protein-coding gene	gene with protein product		611005	"""ring finger and KH domain containing 2"", ""mex-3 homolog C (C. elegans)"""	RKHD2		17267406	Standard	NM_016626		Approved	FLJ38871, RNF194	uc002lfc.4	Q5U5Q3	OTTHUMG00000132693	ENST00000591040.1:c.757-19200CGCGGCGGC>-	18.37:g.48723146_48723154delGCCGCCGCG		3	2		29	24	NM_016626	0	0	0	0	0	A1L022|Q9NZE3	In_Frame_Del	DEL	ENST00000591040.1	37																																																																																				.		0.780	MEX3C-003	KNOWN	mRNA_end_NF|basic	processed_transcript	protein_coding	OTTHUMT00000449559.1	NM_016626	
CPLX4	339302	hgsc.bcm.edu;bcgsc.ca	37	18	56979929	56979929	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr18:56979929G>T	ENST00000299721.3	-	2	429	c.243C>A	c.(241-243)taC>taA	p.Y81*	CPLX4_ENST00000587244.1_Nonsense_Mutation_p.Y81*	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	81					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter secretion (GO:0046928)	cell junction (GO:0030054)|membrane (GO:0016020)|synapse (GO:0045202)				autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				TTGGGAGCCTGTATTTTTCTC	0.373																																					p.Y81X		.											.	CPLX4-91	0			c.C243A						.						112.0	104.0	107.0					18																	56979929		2203	4300	6503	SO:0001587	stop_gained	339302	exon2			GAGCCTGTATTTT	AY286502	CCDS11973.1	18q21.32	2005-08-02			ENSG00000166569	ENSG00000166569			24330	protein-coding gene	gene with protein product		609586				15911881	Standard	NM_181654		Approved	CPX-IV	uc002lhy.3	Q7Z7G2	OTTHUMG00000132756	ENST00000299721.3:c.243C>A	18.37:g.56979929G>T	ENSP00000299721:p.Tyr81*	71	0		60	4	NM_181654	0	0	0	0	0	F1T0L6	Nonsense_Mutation	SNP	ENST00000299721.3	37	CCDS11973.1	.	.	.	.	.	.	.	.	.	.	G	36	5.920541	0.97105	.	.	ENSG00000166569	ENST00000299721	.	.	.	5.22	2.45	0.29901	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.8174	9.6173	0.39698	0.2897:0.0:0.7103:0.0	.	.	.	.	X	81	.	ENSP00000299721:Y81X	Y	-	3	2	CPLX4	55130909	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	3.596000	0.54024	0.714000	0.32081	-0.751000	0.03497	TAC	.		0.373	CPLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256127.1	NM_181654	
ATP9B	374868	hgsc.bcm.edu	37	18	76829525	76829525	+	Missense_Mutation	SNP	A	A	G	rs4078115	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr18:76829525A>G	ENST00000426216.2	+	1	132	c.115A>G	c.(115-117)Agc>Ggc	p.S39G	ATP9B_ENST00000586722.1_Missense_Mutation_p.S39G|ATP9B_ENST00000458297.2_5'UTR|ATP9B_ENST00000591464.1_3'UTR|ATP9B_ENST00000307671.7_Missense_Mutation_p.S39G	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	39			S -> G (in dbSNP:rs4078115). {ECO:0000269|PubMed:15489334}.		establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CGACCGGCACAGCAGGTAACC	0.771													a|||	1574	0.314297	0.2277	0.2046	5008	,	,		9814	0.4494		0.2565	False		,,,				2504	0.4294				p.S39G		.											.	ATP9B-93	0			c.A115G						.		GLY/SER	504,2920		44,416,1252	3.0	4.0	4.0		115	-0.3	1.0	18	dbSNP_108	4	1215,5401		129,957,2222	no	missense	ATP9B	NM_198531.3	56	173,1373,3474	GG,GA,AA		18.3646,14.7196,17.1215	benign	39/1148	76829525	1719,8321	1712	3308	5020	SO:0001583	missense	374868	exon1			CGGCACAGCAGGT	R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.115A>G	18.37:g.76829525A>G	ENSP00000398076:p.Ser39Gly	2	0		14	13	NM_198531	0	0	0	0	0	O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	CCDS12014.1	670	0.3067765567765568	104	0.21138211382113822	83	0.2292817679558011	281	0.49125874125874125	202	0.26649076517150394	a	7.584	0.669300	0.14776	0.147196	0.183646	ENSG00000166377	ENST00000426216;ENST00000307671	T;T	0.56103	0.48;0.48	2.56	-0.308	0.12773	.	1.710450	0.03865	N	0.274617	T	0.00012	0.0000	N	0.03608	-0.345	0.09310	P	0.99999999821082	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.41016	-0.9532	9	0.23302	T	0.38	.	4.8264	0.13417	0.5235:0.0:0.4765:0.0	rs4078115;rs4327119	39;39;39	O43861;O43861-2;B4DJ94	ATP9B_HUMAN;.;.	G	39	ENSP00000398076:S39G;ENSP00000304500:S39G	ENSP00000304500:S39G	S	+	1	0	ATP9B	74930513	1.000000	0.71417	0.996000	0.52242	0.256000	0.26092	1.165000	0.31822	-0.197000	0.10350	-0.465000	0.05216	AGC	A|0.693;G|0.307		0.771	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531	
KHSRP	8570	broad.mit.edu	37	19	6417772	6417772	+	Silent	SNP	G	G	A	rs375087226		TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr19:6417772G>A	ENST00000398148.3	-	11	1151	c.1059C>T	c.(1057-1059)ggC>ggT	p.G353G	MIR3940_ENST00000579148.1_RNA	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	353	Gly-rich.|KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						GTATCCGCACGCCAGCATCAT	0.632																																					p.G353G	Colon(55;593 1006 2067 9135 22980)	.											.	KHSRP-226	0			c.C1059T						.	G		0,4252		0,0,2126	66.0	72.0	70.0		1059	-10.1	0.0	19		70	6,8486		0,6,4240	no	coding-synonymous	KHSRP	NM_003685.2		0,6,6366	AA,AG,GG		0.0707,0.0,0.0471		353/712	6417772	6,12738	2126	4246	6372	SO:0001819	synonymous_variant	8570	exon11			CCGCACGCCAGCA	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"""FUSE binding protein 2"""	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.1059C>T	19.37:g.6417772G>A		89	1		131	6	NM_003685	0	0	12	12	0	O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Silent	SNP	ENST00000398148.3	37	CCDS45936.1																																																																																			.		0.632	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1		
MUC16	94025	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	9063150	9063150	+	Missense_Mutation	SNP	G	G	C	rs542234427		TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr19:9063150G>C	ENST00000397910.4	-	3	24499	c.24296C>G	c.(24295-24297)tCc>tGc	p.S8099C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8101	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTTGATGTGGAGACACTCGT	0.488																																					p.S8099C		.											.	MUC16-566	0			c.C24296G						.						122.0	119.0	120.0					19																	9063150		2051	4212	6263	SO:0001583	missense	94025	exon3			GATGTGGAGACAC	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24296C>G	19.37:g.9063150G>C	ENSP00000381008:p.Ser8099Cys	234	1		291	105	NM_024690	0	0	0	0	0	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.286	-0.146063	0.06627	.	.	ENSG00000181143	ENST00000397910	T	0.39592	1.07	3.0	0.829	0.18847	.	.	.	.	.	T	0.50429	0.1615	L	0.50333	1.59	.	.	.	D	0.89917	1.0	D	0.68353	0.957	T	0.56703	-0.7935	8	0.87932	D	0	.	5.2186	0.15356	0.2813:0.0:0.7187:0.0	.	8099	B5ME49	.	C	8099	ENSP00000381008:S8099C	ENSP00000381008:S8099C	S	-	2	0	MUC16	8924150	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.467000	0.22035	0.314000	0.23086	-0.357000	0.07601	TCC	.		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
PLPPR2	64748	broad.mit.edu	37	19	11472132	11472132	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr19:11472132G>T	ENST00000251473.5	+	6	1007	c.631G>T	c.(631-633)Gcc>Tcc	p.A211S	DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.A186S	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					CAAGGATGCGGCCCTCTGCGC	0.692																																					p.A211S		.											.	LPPR2-153	0			c.G631T						.						26.0	29.0	28.0					19																	11472132		2199	4277	6476	SO:0001583	missense	0	exon6			GATGCGGCCCTCT																												ENST00000251473.5:c.631G>T	19.37:g.11472132G>T	ENSP00000251473:p.Ala211Ser	23	0		106	9	NM_022737	0	0	1	1	0		Missense_Mutation	SNP	ENST00000251473.5	37	CCDS12258.1	.	.	.	.	.	.	.	.	.	.	g	33	5.243323	0.95272	.	.	ENSG00000105520	ENST00000251473	T	0.75477	-0.94	5.36	5.36	0.76844	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70613	0.3244	N	0.16166	0.38	0.80722	D	1	P;P	0.45902	0.851;0.868	P;P	0.59012	0.58;0.85	T	0.64415	-0.6413	10	0.02654	T	1	-25.3512	17.8761	0.88825	0.0:0.0:1.0:0.0	.	186;211	Q96GM1-2;Q96GM1	.;LPPR2_HUMAN	S	211	ENSP00000251473:A211S	ENSP00000251473:A211S	A	+	1	0	AC024575.1	11333132	1.000000	0.71417	0.969000	0.41365	0.979000	0.70002	7.161000	0.77505	2.524000	0.85096	0.550000	0.68814	GCC	.		0.692	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458779.1		
EMR2	30817	bcgsc.ca	37	19	14877820	14877820	+	Missense_Mutation	SNP	G	G	A	rs12976493	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr19:14877820G>A	ENST00000315576.3	-	6	908	c.457C>T	c.(457-459)Ctc>Ttc	p.L153F	EMR2_ENST00000601345.1_Missense_Mutation_p.L153F|EMR2_ENST00000594294.1_Missense_Mutation_p.L153F|EMR2_ENST00000353005.1_Intron|EMR2_ENST00000392967.2_Missense_Mutation_p.L153F|EMR2_ENST00000599423.1_5'Flank|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000392965.3_Missense_Mutation_p.L153F|EMR2_ENST00000392964.3_5'UTR|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000346057.1_Missense_Mutation_p.L153F|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000596991.2_Missense_Mutation_p.L153F	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	153	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						TCAGGTTTGAGCTTGAAGCCA	0.597													G|||	2024	0.404153	0.5749	0.4366	5008	,	,		12315	0.3373		0.4473	False		,,,				2504	0.1748				p.L153F		.											.	EMR2-524	0			c.C457T						.						58.0	59.0	59.0					19																	14877820		1523	3365	4888	SO:0001583	missense	30817	exon5			GTTTGAGCTTGAA	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.457C>T	19.37:g.14877820G>A	ENSP00000319883:p.Leu153Phe	118	8		35	26	NM_001271052	0	0	0	0	0	B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	CCDS32935.1	767	0.35119047619047616	232	0.4715447154471545	141	0.38950276243093923	148	0.25874125874125875	246	0.3245382585751979	G	0.014	-1.577939	0.00879	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000360222;ENST00000392965;ENST00000392962	D;D;T;D;D	0.88741	-2.42;-2.42;-1.42;-2.42;-2.42	3.06	-6.11	0.02131	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.00012	0.0000	L	0.48218	1.51	0.80722	P	0.0	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.10450	0.001;0.002;0.002;0.005	T	0.15954	-1.0419	8	0.09843	T	0.71	.	6.3278	0.21253	0.607:0.0:0.2568:0.1362	rs12976493	153;153;153;153	E7ESD7;Q9UHX3-3;Q9UHX3;Q9UHX3-2	.;.;EMR2_HUMAN;.	F	153	ENSP00000319883:L153F;ENSP00000376694:L153F;ENSP00000263380:L153F;ENSP00000376692:L153F;ENSP00000376689:L153F	ENSP00000319883:L153F	L	-	1	0	EMR2	14738820	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.324000	0.07986	-1.716000	0.01387	-1.973000	0.00462	CTC	A|1.000;|0.000		0.597	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2		
URI1	8725	hgsc.bcm.edu	37	19	30433556	30433556	+	Silent	SNP	C	C	G	rs200928000	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr19:30433556C>G	ENST00000542441.2	+	1	399	c.102C>G	c.(100-102)cgC>cgG	p.R34R	URI1_ENST00000392271.1_5'UTR|URI1_ENST00000360605.4_Intron|URI1_ENST00000312051.6_Missense_Mutation_p.A6G			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	34					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)										CGCGGCTGCGCGAGGAGCAGG	0.776													C|||	17	0.00339457	0.0	0.0101	5008	,	,		7113	0.0		0.0099	False		,,,				2504	0.0				p.R34R		.											.	.	0			c.C102G						.	C	,GLY/ALA	3,3051		0,3,1524	6.0	8.0	7.0		102,17	-2.4	1.0	19		7	53,6939		1,51,3444	yes	coding-synonymous,missense	C19orf2	NM_003796.2,NM_134447.1	,60	1,54,4968	GG,GC,CC		0.758,0.0982,0.5574	,	34/536,6/496	30433556	56,9990	1527	3496	5023	SO:0001819	synonymous_variant	8725	exon1			GCTGCGCGAGGAG	AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	13236	protein-coding gene	gene with protein product	"""unconventional prefoldin RPB5 interactor"", ""RPB5-mediating protein"", ""protein phosphatase 1, regulatory subunit 19"""	603494	"""chromosome 19 open reading frame 2"""	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.102C>G	19.37:g.30433556C>G		0	0		12	12	NM_003796	0	0	0	1	1	A8K805|H7BY42|Q8TC23|Q9UNU3	Silent	SNP	ENST00000542441.2	37	CCDS12420.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287446	0.23478	9.82E-4	0.00758	ENSG00000105176	ENST00000312051	.	.	.	3.32	-2.44	0.06502	.	.	.	.	.	T	0.29458	0.0734	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.21930	-1.0231	7	0.52906	T	0.07	-0.0125	1.3928	0.02254	0.3751:0.3186:0.1845:0.1218	.	6	F8W9T0	.	G	6	.	ENSP00000312530:A6G	A	+	2	0	C19orf2	35125396	0.990000	0.36364	0.995000	0.50966	0.957000	0.61999	-0.249000	0.08842	-0.108000	0.12066	0.305000	0.20034	GCG	C|0.986;G|0.013		0.776	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447	
RHPN2	85415	ucsc.edu	37	19	33517507	33517507	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr19:33517507C>T	ENST00000254260.3	-	3	252	c.217G>A	c.(217-219)Gtg>Atg	p.V73M	RHPN2_ENST00000400226.4_De_novo_Start_OutOfFrame	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	73					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.V73M(2)		NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TCCAGCCGCACTTGCTCCCGC	0.552																																					p.V73M		.											.	RHPN2-516	2	Substitution - Missense(2)	NS(1)|skin(1)	c.G217A						.						84.0	83.0	83.0					19																	33517507		2203	4300	6503	SO:0001583	missense	85415	exon3			GCCGCACTTGCTC	AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.217G>A	19.37:g.33517507C>T	ENSP00000254260:p.Val73Met	20	0		30	8	NM_033103	0	0	0	0	0	B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.542997	0.65198	.	.	ENSG00000131941	ENST00000254260	T	0.39787	1.06	3.88	3.88	0.44766	.	0.000000	0.85682	D	0.000000	T	0.64853	0.2636	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.71984	-0.4427	10	0.87932	D	0	11.9954	16.025	0.80536	0.0:1.0:0.0:0.0	.	73	Q8IUC4	RHPN2_HUMAN	M	73	ENSP00000254260:V73M	ENSP00000254260:V73M	V	-	1	0	RHPN2	38209347	1.000000	0.71417	1.000000	0.80357	0.343000	0.28985	7.267000	0.78462	2.167000	0.68274	0.557000	0.71058	GTG	.		0.552	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103	
CATSPERG	57828	broad.mit.edu	37	19	38827960	38827960	+	Missense_Mutation	SNP	T	T	C	rs2302182	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr19:38827960T>C	ENST00000409235.3	+	2	201	c.86T>C	c.(85-87)cTc>cCc	p.L29P	CATSPERG_ENST00000410018.1_Missense_Mutation_p.L29P|CATSPERG_ENST00000215069.4_Missense_Mutation_p.L45P	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	29			L -> P (in dbSNP:rs2302182). {ECO:0000269|PubMed:17974005}.		cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CTGGCAGTGCTCCTGGCGTCG	0.622													t|||	751	0.14996	0.0348	0.2378	5008	,	,		16010	0.1339		0.1849	False		,,,				2504	0.2239				p.L29P		.											.	CATSPERG-92	0			c.T86C						.		PRO/LEU	94,1290		4,86,602	132.0	118.0	122.0		86	3.3	0.0	19	dbSNP_100	122	494,2688		39,416,1136	yes	missense	CATSPERG	NM_021185.4	98	43,502,1738	CC,CT,TT		15.5248,6.7919,12.8778	probably-damaging	29/1160	38827960	588,3978	692	1591	2283	SO:0001583	missense	57828	exon2			CAGTGCTCCTGGC	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.86T>C	19.37:g.38827960T>C	ENSP00000386962:p.Leu29Pro	85	0		115	3	NM_021185	0	0	1	1	0	A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	CCDS12514.2	331	0.15155677655677655	17	0.034552845528455285	87	0.24033149171270718	85	0.1486013986013986	142	0.18733509234828497	t	14.33	2.502586	0.44455	0.067919	0.155248	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410;ENST00000215069	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	3.3	3.3	0.37823	.	0.000000	0.32736	N	0.005711	T	0.00039	0.0001	L	0.56769	1.78	0.45427	P	0.001595000000000013	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.05289	-1.0894	9	0.59425	D	0.04	-9.8134	8.3357	0.32213	0.0:0.0:0.0:1.0	rs2302182;rs52832791;rs2302182	29;29	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	P	29;29;29;45	ENSP00000387057:L29P;ENSP00000386962:L29P;ENSP00000386950:L29P;ENSP00000215069:L45P	ENSP00000215069:L45P	L	+	2	0	CATSPERG	43519800	0.190000	0.23276	0.025000	0.17156	0.004000	0.04260	1.135000	0.31454	1.760000	0.52011	0.370000	0.22315	CTC	T|0.855;C|0.145		0.622	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185	
TARM1	441864	broad.mit.edu	37	19	54577305	54577305	+	Silent	SNP	C	C	T	rs58216808	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr19:54577305C>T	ENST00000432826.1	-	4	549	c.525G>A	c.(523-525)gcG>gcA	p.A175A	TARM1_ENST00000446034.2_Silent_p.A183A	NM_001135686.1	NP_001129158.2	B6A8C7	TARM1_HUMAN	T cell-interacting, activating receptor on myeloid cells 1	175	Ig-like C2-type 2.					integral component of membrane (GO:0016021)				endometrium(1)|stomach(2)	3						TCTCCTTCCCCGCTGGACTCT	0.557													C|||	63	0.0125799	0.0454	0.0	5008	,	,		18868	0.0		0.003	False		,,,				2504	0.0				p.A175A		.											.	.	0			c.G525A						.						128.0	127.0	127.0					19																	54577305		692	1591	2283	SO:0001819	synonymous_variant	441864	exon4			CTTCCCCGCTGGA		CCDS46173.1	19q13.42	2013-01-29			ENSG00000248385	ENSG00000248385		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	37250	protein-coding gene	gene with protein product							Standard	XM_005258952		Approved		uc010yei.1	B6A8C7		ENST00000432826.1:c.525G>A	19.37:g.54577305C>T		184	1		213	4	NM_001135686	0	0	0	0	0	B4DWY4	Silent	SNP	ENST00000432826.1	37	CCDS46173.1																																																																																			C|0.988;T|0.012		0.557	TARM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465679.1	NM_001135686	
KHK	3795	bcgsc.ca	37	2	27315252	27315252	+	Missense_Mutation	SNP	G	G	A	rs2304681	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr2:27315252G>A	ENST00000260599.6	+	2	658	c.145G>A	c.(145-147)Gtt>Att	p.V49I	KHK_ENST00000490823.1_3'UTR|KHK_ENST00000260598.5_Missense_Mutation_p.V49I	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	49			V -> I (in dbSNP:rs2304681). {ECO:0000269|PubMed:7833921}.		carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose catabolic process (GO:0006001)|regulation of glycogen metabolic process (GO:0070873)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ketohexokinase activity (GO:0004454)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCCTGCACCGTTCTCTCCCT	0.632													G|||	1660	0.33147	0.3033	0.5043	5008	,	,		19742	0.2312		0.3767	False		,,,				2504	0.3037				p.V49I		.											.	KHK-115	0			c.G145A						.	G	ILE/VAL,ILE/VAL	1399,3007	459.0+/-352.1	230,939,1034	76.0	63.0	67.0		145,145	2.7	0.0	2	dbSNP_100	67	3231,5369	486.6+/-371.9	622,1987,1691	yes	missense,missense	KHK	NM_000221.2,NM_006488.2	29,29	852,2926,2725	AA,AG,GG		37.5698,31.7522,35.599	benign,benign	49/299,49/299	27315252	4630,8376	2203	4300	6503	SO:0001583	missense	3795	exon2			TGCACCGTTCTCT		CCDS1734.1, CCDS1735.1	2p23.3-p23.2	2008-02-05			ENSG00000138030	ENSG00000138030	2.7.1.3		6315	protein-coding gene	gene with protein product		614058				7833921	Standard	NM_000221		Approved		uc002rim.2	P50053	OTTHUMG00000097077	ENST00000260599.6:c.145G>A	2.37:g.27315252G>A	ENSP00000260599:p.Val49Ile	78	0		77	5	NM_006488	0	0	1	1	0	Q6IBK2|Q99532|Q9BRJ3|Q9UMN1	Missense_Mutation	SNP	ENST00000260599.6	37	CCDS1734.1	745	0.3411172161172161	156	0.3170731707317073	172	0.47513812154696133	150	0.26223776223776224	267	0.35224274406332456	G	19.83	3.900193	0.72754	0.317522	0.375698	ENSG00000138030	ENST00000260599;ENST00000260598;ENST00000429697	T;T;T	0.77877	-1.13;-1.13;-1.13	5.5	2.71	0.32032	Carbohydrate/purine kinase (1);	0.183501	0.47852	N	0.000205	T	0.00012	0.0000	M	0.69185	2.1	0.24585	P	0.99385471	B;P;B	0.35821	0.045;0.523;0.045	B;B;B	0.32393	0.012;0.145;0.012	T	0.43734	-0.9373	9	0.18710	T	0.47	-18.5598	7.773	0.29019	0.336:0.0:0.664:0.0	rs2304681;rs13006404;rs17845083;rs17847238;rs17857867;rs57123139;rs2304681	49;49;49	Q6IBK2;P50053-2;P50053	.;.;KHK_HUMAN	I	49	ENSP00000260599:V49I;ENSP00000260598:V49I;ENSP00000404741:V49I	ENSP00000260598:V49I	V	+	1	0	KHK	27168756	1.000000	0.71417	0.013000	0.15412	0.966000	0.64601	4.090000	0.57693	0.701000	0.31803	0.462000	0.41574	GTT	G|0.648;A|0.352		0.632	KHK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214196.1		
FEZ2	9637	hgsc.bcm.edu	37	2	36825137	36825137	+	Missense_Mutation	SNP	G	G	A	rs1544655	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr2:36825137G>A	ENST00000405912.3	-	1	148	c.149C>T	c.(148-150)cCg>cTg	p.P50L	FEZ2_ENST00000379245.4_Missense_Mutation_p.P50L	NM_005102.2	NP_005093.2	Q9UHY8	FEZ2_HUMAN	fasciculation and elongation protein zeta 2 (zygin II)	50			P -> L (in dbSNP:rs1544655). {ECO:0000269|PubMed:10931946}.		axon guidance (GO:0007411)|nervous system development (GO:0007399)|signal transduction (GO:0007165)					breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	7		all_hematologic(82;0.21)				GCTGCAGGCCGGGGCCGGGAA	0.761													A|||	4355	0.869609	0.9039	0.8372	5008	,	,		3879	0.9881		0.7435	False		,,,				2504	0.8538				p.P50L		.											.	FEZ2-23	0			c.C149T						.						2.0	3.0	3.0					2																	36825137		1191	2916	4107	SO:0001583	missense	9637	exon1			CAGGCCGGGGCCG	U60061	CCDS46257.1, CCDS46258.1	2p21	2008-05-15			ENSG00000171055	ENSG00000171055			3660	protein-coding gene	gene with protein product		604826				9096408	Standard	NM_005102		Approved		uc002rpg.2	Q9UHY8	OTTHUMG00000152148	ENST00000405912.3:c.149C>T	2.37:g.36825137G>A	ENSP00000385112:p.Pro50Leu	0	0		6	6	NM_001042548	0	0	0	0	0	Q5EBN3|Q76LN0|Q99690	Missense_Mutation	SNP	ENST00000405912.3	37	CCDS46257.1	1789	0.8191391941391941	416	0.8455284552845529	284	0.7845303867403315	557	0.9737762237762237	532	0.7018469656992085	A	9.679	1.148856	0.21288	.	.	ENSG00000171055	ENST00000379245;ENST00000405912	T;T	0.16897	2.31;2.31	3.93	3.93	0.45458	.	0.000000	0.64402	N	0.000005	T	0.00012	0.0000	N	0.00121	-2.07	0.09310	P	0.9999999999999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.32025	-0.9922	9	0.02654	T	1	-21.1042	7.5473	0.27775	0.8952:0.0:0.1048:0.0	rs1544655	50;50;50	G3V0F5;Q9UHY8;Q9UHY8-2	.;FEZ2_HUMAN;.	L	50	ENSP00000368547:P50L;ENSP00000385112:P50L	ENSP00000368547:P50L	P	-	2	0	FEZ2	36678641	1.000000	0.71417	0.997000	0.53966	0.540000	0.34992	0.606000	0.24194	0.590000	0.29694	-0.775000	0.03384	CCG	T|0.817;C|0.180		0.761	FEZ2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325432.1		
C2orf81	388963	broad.mit.edu	37	2	74642280	74642280	+	Missense_Mutation	SNP	T	T	G			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr2:74642280T>G	ENST00000517883.1	-	1	1430	c.739A>C	c.(739-741)Acc>Ccc	p.T247P	C2orf81_ENST00000290390.5_Missense_Mutation_p.T315P			A6NN90	CB081_HUMAN	chromosome 2 open reading frame 81	308										endometrium(3)|kidney(1)	4						GAGGGGCGGGTGGCGCCGCCC	0.716																																					p.T315P		.											.	.	0			c.A943C						.						7.0	10.0	9.0					2																	74642280		682	1575	2257	SO:0001583	missense	388963	exon4			GGCGGGTGGCGCC	AC005041, CH471053		2p13.1	2012-08-07			ENSG00000159239	ENSG00000159239			34350	protein-coding gene	gene with protein product						15815621	Standard	NM_001145054		Approved	LOC388963, hCG40743	uc010yrq.1	A6NN90	OTTHUMG00000164184	ENST00000517883.1:c.739A>C	2.37:g.74642280T>G	ENSP00000431103:p.Thr247Pro	94	10		168	43	NM_001145054	0	0	2	2	0		Missense_Mutation	SNP	ENST00000517883.1	37		.	.	.	.	.	.	.	.	.	.	t	12.14	1.849844	0.32699	.	.	ENSG00000159239	ENST00000517883;ENST00000290390	.	.	.	3.91	-3.99	0.04069	.	1.321610	0.05237	N	0.511487	T	0.30135	0.0755	L	0.44542	1.39	0.09310	N	1	B	0.19073	0.033	B	0.22601	0.04	T	0.39396	-0.9616	9	0.72032	D	0.01	-3.9874	1.2321	0.01946	0.1409:0.2887:0.2874:0.283	.	315	G3XAA6	.	P	247;315	.	ENSP00000290390:T315P	T	-	1	0	C2orf81	74495788	0.007000	0.16637	0.000000	0.03702	0.008000	0.06430	0.309000	0.19332	-0.435000	0.07264	0.454000	0.30748	ACC	.		0.716	C2orf81-002	PUTATIVE	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000377683.1	NM_001145054	
NIFK	84365	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	2	122493289	122493289	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr2:122493289T>C	ENST00000285814.4	-	2	215	c.143A>G	c.(142-144)tAt>tGt	p.Y48C		NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		48	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of phosphatase activity (GO:0010923)|protein complex assembly (GO:0006461)|rRNA metabolic process (GO:0016072)|rRNA transcription (GO:0009303)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						GTGGCGCACATAGACTACTCC	0.388																																					p.Y48C		.											.	MKI67IP-90	0			c.A143G						.						109.0	102.0	104.0					2																	122493289		2203	4300	6503	SO:0001583	missense	84365	exon2			CGCACATAGACTA																												ENST00000285814.4:c.143A>G	2.37:g.122493289T>C	ENSP00000285814:p.Tyr48Cys	44	0		47	12	NM_032390	0	0	1	2	1	A8K788|Q8TB66|Q96ED4	Missense_Mutation	SNP	ENST00000285814.4	37	CCDS2135.1	.	.	.	.	.	.	.	.	.	.	T	12.35	1.911886	0.33721	.	.	ENSG00000155438	ENST00000285814;ENST00000409201	T	0.20332	2.08	4.28	1.68	0.24146	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.107789	0.64402	D	0.000003	T	0.44932	0.1317	H	0.96239	3.79	0.52099	D	0.999945	P;P	0.37398	0.593;0.473	P;B	0.47786	0.557;0.28	T	0.40979	-0.9534	10	0.87932	D	0	-8.8057	7.0282	0.24952	0.3239:0.0:0.0:0.6761	.	48;48	B4DSM4;Q9BYG3	.;MK67I_HUMAN	C	48	ENSP00000285814:Y48C	ENSP00000285814:Y48C	Y	-	2	0	MKI67IP	122209759	1.000000	0.71417	0.923000	0.36655	0.018000	0.09664	2.848000	0.48278	0.110000	0.17919	0.459000	0.35465	TAT	.		0.388	MKI67IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254239.2		
NEB	4703	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	152382545	152382545	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr2:152382545T>A	ENST00000172853.10	-	122	17132	c.16985A>T	c.(16984-16986)cAg>cTg	p.Q5662L	NEB_ENST00000409198.1_Missense_Mutation_p.Q5662L|NEB_ENST00000604864.1_Missense_Mutation_p.Q7363L|NEB_ENST00000427231.2_Missense_Mutation_p.Q7363L|NEB_ENST00000603639.1_Missense_Mutation_p.Q7363L|NEB_ENST00000397345.3_Missense_Mutation_p.Q7363L			P20929	NEBU_HUMAN	nebulin	5662					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTATGAGCCCTGTGCCAAGTG	0.522																																					p.Q7398L		.											.	NEB-145	0			c.A22193T						.						319.0	309.0	313.0					2																	152382545		2015	4178	6193	SO:0001583	missense	4703	exon151			GAGCCCTGTGCCA	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.16985A>T	2.37:g.152382545T>A	ENSP00000172853:p.Gln5662Leu	148	0		211	44	NM_001271208	0	0	0	0	0	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	T	21.0	4.077657	0.76528	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.06768	3.37;3.38;3.39;3.26;3.37	6.07	6.07	0.98685	.	0.353924	0.33515	N	0.004827	T	0.15869	0.0382	L	0.29908	0.895	0.80722	D	1	B;P;P	0.51933	0.354;0.841;0.949	B;P;D	0.63381	0.119;0.583;0.914	T	0.04115	-1.0976	10	0.34782	T	0.22	.	12.4449	0.55645	0.0:0.0666:0.0:0.9334	.	5662;7363;2093	P20929;F8WCP0;Q14215	NEBU_HUMAN;.;.	L	5662;7363;7363;1711;2093;5662	ENSP00000386259:Q5662L;ENSP00000380505:Q7363L;ENSP00000416578:Q7363L;ENSP00000410961:Q2093L;ENSP00000172853:Q5662L	ENSP00000172853:Q5662L	Q	-	2	0	NEB	152090791	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.600000	0.54052	2.326000	0.78906	0.533000	0.62120	CAG	.		0.522	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
XIRP2	129446	hgsc.bcm.edu;broad.mit.edu	37	2	168099448	168099448	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr2:168099448G>T	ENST00000409195.1	+	9	1635	c.1546G>T	c.(1546-1548)Gat>Tat	p.D516Y	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D294Y|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D516Y|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	341					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTTAGAAAAAGATTATATCAG	0.348																																					p.D516Y		.											.	XIRP2-104	0			c.G1546T						.						26.0	25.0	25.0					2																	168099448		1798	4059	5857	SO:0001583	missense	129446	exon9			GAAAAAGATTATA	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.1546G>T	2.37:g.168099448G>T	ENSP00000386840:p.Asp516Tyr	74	0		52	4	NM_152381	0	0	0	0	0	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.698949	0.30142	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02787	4.16;4.16;4.16	5.54	3.62	0.41486	.	0.391455	0.26638	N	0.023266	T	0.07052	0.0179	L	0.40543	1.245	0.47547	D	0.999453	B;B;D	0.58970	0.076;0.125;0.984	B;B;P	0.58172	0.042;0.091;0.834	T	0.23511	-1.0186	10	0.66056	D	0.02	-9.5206	11.4064	0.49900	0.0:0.2505:0.6205:0.129	.	341;341;294	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Y	516;516;294	ENSP00000386840:D516Y;ENSP00000295237:D516Y;ENSP00000387255:D294Y	ENSP00000295237:D516Y	D	+	1	0	XIRP2	167807694	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.251000	0.43187	1.332000	0.45431	0.655000	0.94253	GAT	.		0.348	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
C2orf83	56918	broad.mit.edu;ucsc.edu	37	2	228477731	228477731	+	Intron	SNP	G	G	T			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr2:228477731G>T	ENST00000264387.4	-	3	277				C2orf83_ENST00000409066.1_Silent_p.A70A	NM_020161.3	NP_064546.3	Q53S99	CB083_HUMAN	chromosome 2 open reading frame 83						transport (GO:0006810)	membrane (GO:0016020)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						CAAGGGAGGGGGCAGTTCTAC	0.547																																					p.A70A		.											.	C2orf83-90	0			c.C210A						.						42.0	38.0	39.0					2																	228477731		692	1591	2283	SO:0001627	intron_variant	56918	exon3			GGAGGGGGCAGTT		CCDS33388.1, CCDS54434.1	2q36.3	2008-09-16			ENSG00000042304	ENSG00000042304			25344	protein-coding gene	gene with protein product							Standard	NM_020161		Approved	DKFZp547H025	uc002vph.3	Q53S99	OTTHUMG00000153550	ENST00000264387.4:c.191-1359C>A	2.37:g.228477731G>T		35	1		39	4	NM_001162483	0	0	0	0	0	A2RRG6|B8ZZI8|Q9NPW4	Silent	SNP	ENST00000264387.4	37	CCDS33388.1																																																																																			.		0.547	C2orf83-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331607.1	NM_020161	
PID1	55022	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	229890685	229890685	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr2:229890685C>T	ENST00000354069.6	-	3	446	c.416G>A	c.(415-417)cGg>cAg	p.R139Q	PID1_ENST00000482518.2_Intron|PID1_ENST00000392055.3_Missense_Mutation_p.R106Q|PID1_ENST00000392054.3_Missense_Mutation_p.R137Q|PID1_ENST00000409462.1_Missense_Mutation_p.R57Q			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	139	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TTGGAATGGCCGGATTTCCAG	0.567																																					p.R137Q		.											.	PID1-94	0			c.G410A						.						96.0	93.0	94.0					2																	229890685		2203	4300	6503	SO:0001583	missense	55022	exon4			AATGGCCGGATTT	AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.416G>A	2.37:g.229890685C>T	ENSP00000283937:p.Arg139Gln	155	0		183	67	NM_017933	0	0	1	1	0	B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	ENST00000354069.6	37		.	.	.	.	.	.	.	.	.	.	C	24.3	4.518463	0.85495	.	.	ENSG00000153823	ENST00000392054;ENST00000409462;ENST00000392055;ENST00000542363;ENST00000354069	.	.	.	5.46	5.46	0.80206	Pleckstrin homology-type (1);	0.124895	0.56097	D	0.000030	T	0.68476	0.3005	L	0.36672	1.1	0.58432	D	0.999999	D;D;D;D	0.89917	0.994;0.994;1.0;0.999	P;P;D;D	0.83275	0.901;0.901;0.996;0.994	T	0.64706	-0.6344	8	.	.	.	-10.0864	18.6482	0.91419	0.0:1.0:0.0:0.0	.	57;106;137;139	Q7Z2X4-3;Q7Z2X4-4;Q7Z2X4-2;Q7Z2X4	.;.;.;PCLI1_HUMAN	Q	137;57;106;139;139	.	.	R	-	2	0	PID1	229598929	1.000000	0.71417	0.969000	0.41365	0.948000	0.59901	7.276000	0.78559	2.721000	0.93114	0.655000	0.94253	CGG	.		0.567	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	NM_017933	
UGT1A5	54579	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	234621931	234621931	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr2:234621931A>T	ENST00000373414.3	+	1	294	c.294A>T	c.(292-294)caA>caT	p.Q98H	UGT1A1_ENST00000373450.4_Intron|UGT1A1_ENST00000608381.1_Missense_Mutation_p.Q98H|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	98						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		GTCACACTCAATCGTTCTTTG	0.383																																					p.Q98H		.											.	UGT1A5-3	0			c.A294T						.						118.0	113.0	115.0					2																	234621931		2203	4300	6503	SO:0001583	missense	54579	exon1			CACTCAATCGTTC	M84129	CCDS33404.1	2q37	2010-03-05	2005-07-20		ENSG00000240224	ENSG00000240224		"""UDP glucuronosyltransferases"""	12537	other	complex locus constituent		606430	"""UDP glycosyltransferase 1 family, polypeptide A5"""			9295054, 1339448	Standard	NM_019078		Approved	UGT1E		P35504	OTTHUMG00000059120	ENST00000373414.3:c.294A>T	2.37:g.234621931A>T	ENSP00000362513:p.Gln98His	119	0		153	27	NM_019078	0	0	0	0	0	B8K294	Missense_Mutation	SNP	ENST00000373414.3	37	CCDS33404.1	.	.	.	.	.	.	.	.	.	.	A	5.754	0.323557	0.10900	.	.	ENSG00000240224	ENST00000373414	T	0.59772	0.24	4.3	-6.82	0.01698	.	1.555230	0.03296	N	0.188301	T	0.24236	0.0587	N	0.03224	-0.385	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.11329	0.006;0.006	T	0.15122	-1.0448	10	0.10636	T	0.68	.	2.0937	0.03663	0.3579:0.2822:0.0689:0.291	.	98;98	Q5DSZ9;P35504	.;UD15_HUMAN	H	98	ENSP00000362513:Q98H	ENSP00000362513:Q98H	Q	+	3	2	UGT1A5	234286670	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.554000	0.00114	-0.755000	0.04709	0.449000	0.29647	CAA	.		0.383	UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130985.1	NM_019078	
ESPNL	339768	hgsc.bcm.edu	37	2	239009336	239009336	+	Silent	SNP	G	G	A	rs61744770	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr2:239009336G>A	ENST00000343063.3	+	1	539	c.276G>A	c.(274-276)gaG>gaA	p.E92E	ESPNL_ENST00000409169.1_Silent_p.E92E	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	92										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TGGTCCGCGAGGGGGGCTGCG	0.721													G|||	1076	0.214856	0.0325	0.3012	5008	,	,		12159	0.1359		0.4761	False		,,,				2504	0.2127				p.E92E		.											.	ESPNL-69	0			c.G276A						.	G		217,3027		15,187,1420	2.0	3.0	3.0		276	-8.2	0.0	2	dbSNP_129	3	2420,4680		417,1586,1547	no	coding-synonymous	ESPNL	NM_194312.2		432,1773,2967	AA,AG,GG		34.0845,6.6893,25.493		92/1006	239009336	2637,7707	1622	3550	5172	SO:0001819	synonymous_variant	339768	exon1			CCGCGAGGGGGGC	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"""Ankyrin repeat domain containing"""	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.276G>A	2.37:g.239009336G>A		2	0		11	10	NM_194312	0	0	0	0	0	Q66K27|Q6ZVG1|Q8IVU2	Silent	SNP	ENST00000343063.3	37	CCDS2525.1																																																																																			G|0.739;A|0.261		0.721	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312	
PTPRA	5786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	2945574	2945574	+	Silent	SNP	C	C	G			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr20:2945574C>G	ENST00000216877.6	+	5	541	c.141C>G	c.(139-141)gcC>gcG	p.A47A	PTPRA_ENST00000358719.4_5'UTR|PTPRA_ENST00000399903.2_Silent_p.A47A|PTPRA_ENST00000318266.5_Silent_p.A47A|PTPRA_ENST00000356147.3_Silent_p.A47A|PTPRA_ENST00000380393.3_Silent_p.A47A|PTPRA_ENST00000425918.2_Silent_p.A58A	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	47					axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.A47A(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AAGAAGAGGCCAAAACTTCAA	0.383																																					p.A47A		.											.	PTPRA-227	1	Substitution - coding silent(1)	lung(1)	c.C141G						.						105.0	97.0	100.0					20																	2945574		2203	4300	6503	SO:0001819	synonymous_variant	5786	exon9			AGAGGCCAAAACT		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.141C>G	20.37:g.2945574C>G		87	0		159	28	NM_002836	0	0	0	1	1	A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Silent	SNP	ENST00000216877.6	37	CCDS13039.1																																																																																			.		0.383	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3		
ADAM33	80332	hgsc.bcm.edu	37	20	3654433	3654433	+	Silent	SNP	C	C	T	rs2271511	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr20:3654433C>T	ENST00000356518.2	-	9	1105	c.864G>A	c.(862-864)ggG>ggA	p.G288G	ADAM33_ENST00000379861.4_Silent_p.G288G|ADAM33_ENST00000466620.1_5'Flank|ADAM33_ENST00000350009.2_Silent_p.G288G	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	288	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GCGCCCACAGCCCCCGGCGCC	0.771													C|||	1379	0.275359	0.4319	0.1354	5008	,	,		9169	0.2212		0.1869	False		,,,				2504	0.3098				p.G288G		.											.	ADAM33-291	0			c.G864A						.	C	,	1271,2579		236,799,890	4.0	5.0	4.0		864,864	-0.6	0.0	20	dbSNP_100	4	1108,6216		89,930,2643	no	coding-synonymous,coding-synonymous	ADAM33	NM_025220.2,NM_153202.1	,	325,1729,3533	TT,TC,CC		15.1283,33.013,21.2905	,	288/814,288/788	3654433	2379,8795	1925	3662	5587	SO:0001819	synonymous_variant	80332	exon9			CCACAGCCCCCGG	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"""ADAM metallopeptidase domain containing"""	15478	protein-coding gene	gene with protein product		607114	"""a disintegrin and metalloproteinase domain 33"", ""chromosome 20 open reading frame 153"""	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.864G>A	20.37:g.3654433C>T		0	0		20	9	NM_025220	0	0	0	0	0	A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Silent	SNP	ENST00000356518.2	37	CCDS13058.1																																																																																			C|0.751;T|0.249		0.771	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220	
C20orf78	100128496	broad.mit.edu	37	20	18790675	18790675	+	Frame_Shift_Del	DEL	T	T	-			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr20:18790675delT	ENST00000278779.4	-	3	302	c.201delA	c.(199-201)aaafs	p.K67fs	C20orf78_ENST00000463425.1_5'UTR	NM_001242671.1	NP_001229600.1	Q9BR46	CT078_HUMAN	chromosome 20 open reading frame 78	67										central_nervous_system(1)	1						aggagaggtcttttttgtccc	0.517																																					p.K67fs		.											.	C20orf78-71	0			c.201delA						.																																			SO:0001589	frameshift_variant	100128496	exon3			GAGGTCTTTTTTG	AL035563	CCDS56181.1	20p11.23	2011-10-07			ENSG00000149443	ENSG00000149443			16210	protein-coding gene	gene with protein product						11780052	Standard	NM_001242671		Approved	dJ1068E13.1	uc002wrj.2	Q9BR46	OTTHUMG00000031982	ENST00000278779.4:c.201delA	20.37:g.18790675delT	ENSP00000278779:p.Lys67fs	192	0		383	9	NM_001242671	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000278779.4	37	CCDS56181.1																																																																																			.		0.517	C20orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078191.2	NM_178462	
INSM1	3642	hgsc.bcm.edu	37	20	20348962	20348962	+	Silent	SNP	C	C	T	rs111558392	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr20:20348962C>T	ENST00000310227.1	+	1	198	c.51C>T	c.(49-51)tcC>tcT	p.S17S		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	17	Ala/Gly/Pro-rich.|SNAG domain. {ECO:0000250}.				adrenal chromaffin cell differentiation (GO:0061104)|cell cycle (GO:0007049)|endocrine pancreas development (GO:0031018)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|noradrenergic neuron development (GO:0003358)|norepinephrine biosynthetic process (GO:0042421)|pancreatic A cell differentiation (GO:0003310)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of gene expression (GO:0010468)|regulation of protein complex assembly (GO:0043254)|sympathetic ganglion development (GO:0061549)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell differentiation (GO:0003309)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|cyclin binding (GO:0030332)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		CGCCCGTTTCCTACCGGGTCC	0.781													C|||	370	0.0738818	0.0772	0.0879	5008	,	,		1364	0.0079		0.1143	False		,,,				2504	0.0859				p.S17S		.											.	INSM1-91	0			c.C51T						.	C		337,3769		13,311,1729	5.0	6.0	6.0		51	2.2	1.0	20	dbSNP_132	6	1083,6975		78,927,3024	no	coding-synonymous	INSM1	NM_002196.2		91,1238,4753	TT,TC,CC		13.4401,8.2075,11.6738		17/511	20348962	1420,10744	2053	4029	6082	SO:0001819	synonymous_variant	3642	exon1			CGTTTCCTACCGG		CCDS13143.1	20p11.2	2012-07-10			ENSG00000173404	ENSG00000173404			6090	protein-coding gene	gene with protein product		600010				8188699, 16569215	Standard	NM_002196		Approved	IA-1, IA1	uc002wrx.3	Q01101	OTTHUMG00000032004	ENST00000310227.1:c.51C>T	20.37:g.20348962C>T		0	0		11	5	NM_002196	0	0	0	0	0		Silent	SNP	ENST00000310227.1	37	CCDS13143.1																																																																																			C|0.912;T|0.088		0.781	INSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078223.1	NM_002196	
FRG1B	284802	bcgsc.ca	37	20	29623219	29623219	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr20:29623219A>G	ENST00000278882.3	+	3	411	c.31A>G	c.(31-33)Atg>Gtg	p.M11V	FRG1B_ENST00000439954.2_Missense_Mutation_p.N12S|FRG1B_ENST00000358464.4_Missense_Mutation_p.M11V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	11										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GCACTCGACAATGGTCTTTTT	0.413																																					.		.											.	FRG1B-22	0			.						.																																			SO:0001583	missense	284802	.			TCGACAATGGTCT			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.31A>G	20.37:g.29623219A>G	ENSP00000278882:p.Met11Val	902	11		927	33	.	0	0	14	14	0	C4AME5	RNA	SNP	ENST00000278882.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	0.925|0.925	-0.714671|-0.714671	0.03206|0.03206	.|.	.|.	ENSG00000149531|ENSG00000149531	ENST00000278882;ENST00000358464|ENST00000439954	.|T	.|0.53206	.|0.63	1.93|1.93	1.93|1.93	0.25924|0.25924	.|.	0.114289|.	0.56097|.	U|.	0.000024|.	T|T	0.42040|0.42040	0.1185|0.1185	.|.	.|.	.|.	0.18873|0.18873	N|N	0.999983|0.999983	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.36648|0.36648	-0.9739|-0.9739	6|6	0.66056|0.54805	D|T	0.02|0.06	.|.	4.9441|4.9441	0.13980|0.13980	0.6812:0.3188:0.0:0.0|0.6812:0.3188:0.0:0.0	.|.	.|.	.|.	.|.	V|S	11|12	.|ENSP00000408863:N12S	ENSP00000278882:M11V|ENSP00000408863:N12S	M|N	+|+	1|2	0|0	FRG1B|FRG1B	28236880|28236880	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.107000|0.107000	0.19398|0.19398	3.154000|3.154000	0.50693|0.50693	1.147000|1.147000	0.42369|0.42369	0.347000|0.347000	0.21830|0.21830	ATG|AAT	.		0.413	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
PIGU	128869	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	20	33225690	33225693	+	Frame_Shift_Del	DEL	CTTT	CTTT	-			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	CTTT	CTTT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr20:33225690_33225693delCTTT	ENST00000374820.2	-	4	375_378	c.355_358delAAAG	c.(355-360)aaagtgfs	p.KV119fs	PIGU_ENST00000452740.2_Frame_Shift_Del_p.KV139fs			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	139					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|regulation of JAK-STAT cascade (GO:0046425)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						AACAGGGCCACTTTCAAAGGGATG	0.446																																					p.139_140del		.											.	PIGU-226	0			c.415_418del						.																																			SO:0001589	frameshift_variant	128869	exon5			GGGCCACTTTCAA	AL118520	CCDS13239.1	20q11.22	2013-02-26	2006-11-07	2006-11-07	ENSG00000101464	ENSG00000101464		"""Phosphatidylinositol glycan anchor biosynthesis"""	15791	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	608528	"""CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1"", ""CDC91 cell division cycle 91-like 1 (S. cerevisiae)"""	CDC91L1		12802054, 15034568	Standard	NM_080476		Approved	bA346K17.2, GAB1	uc002xas.3	Q9H490	OTTHUMG00000032304	ENST00000374820.2:c.355_358delAAAG	20.37:g.33225690_33225693delCTTT	ENSP00000363953:p.Lys119fs	90	0		159	35	NM_080476	0	0	0	0	0	Q7Z489|Q8N2F2	Frame_Shift_Del	DEL	ENST00000374820.2	37																																																																																				.		0.446	PIGU-201	KNOWN	basic	protein_coding	protein_coding		NM_080476	
ARFGEF2	10564	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	47605959	47605959	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr20:47605959C>T	ENST00000371917.4	+	19	2671	c.2671C>T	c.(2671-2673)Cgg>Tgg	p.R891W		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	891					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GGACCATGTCCGGCCAATGTT	0.502																																					p.R891W	Esophageal Squamous(176;1738 1974 26285 33069 35354)	.											.	ARFGEF2-358	0			c.C2671T						.						87.0	76.0	80.0					20																	47605959		2203	4300	6503	SO:0001583	missense	10564	exon19			CATGTCCGGCCAA	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.2671C>T	20.37:g.47605959C>T	ENSP00000360985:p.Arg891Trp	83	0		191	96	NM_006420	0	0	0	0	0	Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951323	0.73787	.	.	ENSG00000124198	ENST00000371917	T	0.29397	1.57	5.87	4.88	0.63580	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61022	0.2314	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66736	-0.5848	10	0.87932	D	0	.	13.9896	0.64357	0.2579:0.7421:0.0:0.0	.	891	Q9Y6D5	BIG2_HUMAN	W	891	ENSP00000360985:R891W	ENSP00000360985:R891W	R	+	1	2	ARFGEF2	47039366	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.184000	0.32053	2.941000	0.99782	0.655000	0.94253	CGG	.		0.502	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420	
B4GALT5	9334	ucsc.edu;bcgsc.ca	37	20	48252968	48252968	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr20:48252968G>A	ENST00000371711.4	-	9	1235	c.1048C>T	c.(1048-1050)Cgg>Tgg	p.R350W		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	350					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			AGCCCTTGCCGTTCTTTTGAC	0.512																																					p.R350W		.											.	B4GALT5-91	0			c.C1048T						.						200.0	173.0	182.0					20																	48252968		2203	4300	6503	SO:0001583	missense	9334	exon9			CTTGCCGTTCTTT	AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"""Beta 4-glycosyltransferases"""	928	protein-coding gene	gene with protein product	"""beta4-GalT IV"""	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.1048C>T	20.37:g.48252968G>A	ENSP00000360776:p.Arg350Trp	234	2		473	193	NM_004776	0	0	3	4	1	E1P625|Q2M394|Q9UJQ8	Missense_Mutation	SNP	ENST00000371711.4	37	CCDS13420.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779659	0.70107	.	.	ENSG00000158470	ENST00000371711	T	0.37235	1.21	5.52	3.36	0.38483	.	0.000000	0.85682	D	0.000000	T	0.66046	0.2750	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75161	-0.3415	10	0.72032	D	0.01	-22.256	13.3884	0.60809	0.0:0.0:0.5658:0.4342	.	350	O43286	B4GT5_HUMAN	W	350	ENSP00000360776:R350W	ENSP00000360776:R350W	R	-	1	2	B4GALT5	47686375	0.997000	0.39634	0.996000	0.52242	0.997000	0.91878	2.005000	0.40864	1.312000	0.45043	0.563000	0.77884	CGG	.		0.512	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080543.3	NM_004776	
CTCFL	140690	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	20	56090878	56090878	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr20:56090878T>C	ENST00000608263.1	-	5	1733	c.1072A>G	c.(1072-1074)Aag>Gag	p.K358E	CTCFL_ENST00000432255.2_Intron|CTCFL_ENST00000423479.3_Missense_Mutation_p.K358E|CTCFL_ENST00000502686.2_Missense_Mutation_p.K96E|CTCFL_ENST00000608440.1_Missense_Mutation_p.K358E|CTCFL_ENST00000608425.1_Missense_Mutation_p.K358E|CTCFL_ENST00000429804.3_Missense_Mutation_p.K358E|CTCFL_ENST00000371196.2_Missense_Mutation_p.K358E|CTCFL_ENST00000608903.1_Missense_Mutation_p.K96E|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000243914.3_Missense_Mutation_p.K358E|CTCFL_ENST00000539382.1_Missense_Mutation_p.K153E|CTCFL_ENST00000422869.2_Missense_Mutation_p.K358E|CTCFL_ENST00000433949.3_Missense_Mutation_p.K153E|CTCFL_ENST00000609232.1_Missense_Mutation_p.K358E	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	358					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			ACATGGCGCTTCAATTTACTT	0.423																																					p.K358E		.											.	CTCFL-292	0			c.A1072G						.						120.0	120.0	120.0					20																	56090878		2203	4300	6503	SO:0001583	missense	140690	exon5			GGCGCTTCAATTT		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1072A>G	20.37:g.56090878T>C	ENSP00000476783:p.Lys358Glu	43	0		79	9	NM_001269044	0	0	0	0	0	A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	37	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.583432	0.65992	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686;ENST00000422109;ENST00000426658;ENST00000539382;ENST00000422869	T;T;T;T;T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22	5.24	5.24	0.73138	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.144113	0.31797	N	0.007058	T	0.35189	0.0923	L	0.52823	1.66	0.44018	D	0.996738	P;D;D;D;D	0.67145	0.949;0.996;0.992;0.992;0.993	P;D;D;P;P	0.68765	0.881;0.916;0.96;0.862;0.895	T	0.02505	-1.1149	10	0.39692	T	0.17	-31.8917	14.4174	0.67160	0.0:0.0:0.0:1.0	.	358;358;358;358;358	A6XGM9;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;CTCFL_HUMAN	E	358;358;358;358;358;96;358;358;153;358	ENSP00000415579:K358E;ENSP00000243914:K358E;ENSP00000360239:K358E;ENSP00000415329:K358E;ENSP00000392034:K358E;ENSP00000437999:K96E;ENSP00000413713:K358E;ENSP00000403369:K358E;ENSP00000439998:K153E;ENSP00000399061:K358E	ENSP00000243914:K358E	K	-	1	0	CTCFL	55524284	1.000000	0.71417	0.992000	0.48379	0.129000	0.20672	7.670000	0.83925	2.108000	0.64289	0.528000	0.53228	AAG	.		0.423	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618	
KRTAP10-4	386672	ucsc.edu	37	21	45993851	45993851	+	Silent	SNP	C	C	T	rs201895065		TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr21:45993851C>T	ENST00000400374.3	+	1	246	c.216C>T	c.(214-216)tgC>tgT	p.C72C	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_5'Flank	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	72	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						CAGTGACCTGCGAGCCCAGCC	0.721																																					p.C72C		.											.	KRTAP10-4-90	0			c.C216T						.						20.0	38.0	32.0					21																	45993851		1993	4191	6184	SO:0001819	synonymous_variant	386672	exon1			GACCTGCGAGCCC	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"""Keratin associated proteins"""	20521	protein-coding gene	gene with protein product			"""keratin associated protein 18-4"""	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.216C>T	21.37:g.45993851C>T		38	6		39	25	NM_198687	0	0	0	0	0	Q08AS0	Silent	SNP	ENST00000400374.3	37	CCDS42957.1																																																																																			C|1.000;|0.000		0.721	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687	
GSTT2	2953	bcgsc.ca	37	22	24325062	24325062	+	Splice_Site	SNP	G	G	A	rs2301423	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr22:24325062G>A	ENST00000215780.5	+	4	402	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	GSTT2_ENST00000402588.3_Splice_Site_p.V118M|DDT_ENST00000404092.1_5'Flank	NM_000854.3	NP_000845.1	P0CG29	GST2_HUMAN	glutathione S-transferase theta 2	118	GST C-terminal.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			lung(1)	1						CCCCCATCAGGTGTTGGGGCC	0.607																																					p.V118M		.											.	GSTT2-68	0			c.G352A						.	G	MET/VAL	149,4255		2,145,2055	51.0	48.0	49.0		352	0.6	0.0	22	dbSNP_131	49	1352,7244		45,1262,2991	no	missense-near-splice	GSTT2	NM_000854.3	21	47,1407,5046	AA,AG,GG		15.7282,3.3833,11.5462	possibly-damaging	118/245	24325062	1501,11499	2202	4298	6500	SO:0001630	splice_region_variant	2953	exon4			CATCAGGTGTTGG	L38503		22q11.23	2012-06-21			ENSG00000099984	ENSG00000099984	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4642	protein-coding gene	gene with protein product		600437				7789971, 9729470	Standard	NM_000854		Approved		uc002zyw.4	P0CG29	OTTHUMG00000150786	ENST00000215780.5:c.352-1G>A	22.37:g.24325062G>A		547	3		260	7	NM_000854	0	0	0	0	0	O60665|P30712|Q6IPV7|Q9HD76	Missense_Mutation	SNP	ENST00000215780.5	37	CCDS13821.1	350	0.16025641025641027	4	0.008130081300813009	52	0.143646408839779	167	0.291958041958042	127	0.16754617414248021	g	7.443	0.641125	0.14386	0.033833	0.157282	ENSG00000099984	ENST00000215780;ENST00000402588	T;T	0.18810	2.19;2.19	1.71	0.639	0.17747	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.686514	0.13739	N	0.366086	T	0.00012	0.0000	L	0.52905	1.665	0.49130	P	2.4500000000005073E-4	D;P	0.76494	0.999;0.907	P;B	0.57846	0.828;0.408	T	0.28870	-1.0030	8	.	.	.	-14.4526	4.1421	0.10198	0.2239:0.0:0.7761:0.0	.	118;118	B5MCL2;P0CG29	.;GST2_HUMAN	M	118	ENSP00000215780:V118M;ENSP00000385765:V118M	.	V	+	1	0	GSTT2	22655062	0.240000	0.23847	0.016000	0.15963	0.391000	0.30476	-0.244000	0.08903	0.321000	0.23259	0.385000	0.25706	GTG	G|0.850;A|0.151		0.607	GSTT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320080.1	NM_000854	Missense_Mutation
UBA7	7318	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	49842192	49842192	+	IGR	SNP	C	C	T	rs146996587	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr3:49842192C>T	ENST00000333486.3	-	0	3299				FAM212A_ENST00000333323.4_Silent_p.D212D|MIR5193_ENST00000584510.1_RNA	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7						cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AAGGGGGTGACGGAGGTGGGC	0.662													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19810	0.001		0.0	False		,,,				2504	0.0				p.D212D		.											.	.	0			c.C636T						.	C		1,4405	2.1+/-5.4	0,1,2202	78.0	80.0	79.0		636	-11.3	0.0	3	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C3orf54	NM_203370.1		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		212/288	49842192	2,13004	2203	4300	6503	SO:0001628	intergenic_variant	389119	exon2			GGGTGACGGAGGT	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267		3.37:g.49842192C>T		209	1		155	56	NM_203370	0	0	2	2	0	Q9BRB2	Silent	SNP	ENST00000333486.3	37	CCDS2805.1																																																																																			C|0.999;T|0.000		0.662	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335	
ITIH1	3697	bcgsc.ca	37	3	52824813	52824813	+	Silent	SNP	C	C	T	rs146607393	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr3:52824813C>T	ENST00000273283.2	+	20	2394	c.2370C>T	c.(2368-2370)gaC>gaT	p.D790D	ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000537050.1_Silent_p.D502D|ITIH1_ENST00000405128.3_Silent_p.D156D|ITIH1_ENST00000540715.1_Silent_p.D648D	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	790	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TGTCTGTGGACGACGGTGGCA	0.597													C|||	2	0.000399361	0.0	0.0	5008	,	,		19822	0.002		0.0	False		,,,				2504	0.0				p.D790D		.											.	ITIH1-93	0			c.C2370T						.	C	,,,	0,4406		0,0,2203	195.0	159.0	171.0		1944,1506,1506,2370	-11.5	0.0	3	dbSNP_134	171	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ITIH1	NM_001166434.1,NM_001166435.1,NM_001166436.1,NM_002215.2	,,,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,,,	648/770,502/624,502/624,790/912	52824813	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	3697	exon20			TGTGGACGACGGT		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.2370C>T	3.37:g.52824813C>T		256	1		245	7	NM_002215	0	0	0	0	0	A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Silent	SNP	ENST00000273283.2	37	CCDS2864.1																																																																																			C|1.000;T|0.000		0.597	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215	
SI	6476	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	164748583	164748583	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr3:164748583C>G	ENST00000264382.3	-	25	2871	c.2809G>C	c.(2809-2811)Gaa>Caa	p.E937Q		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	937	Isomaltase.|P-type 2. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CTTTCATTTTCTGAGAAAATT	0.313										HNSCC(35;0.089)																											p.E937Q		.											.	SI-104	0			c.G2809C						.						64.0	69.0	67.0					3																	164748583		2202	4295	6497	SO:0001583	missense	6476	exon25			CATTTTCTGAGAA	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2809G>C	3.37:g.164748583C>G	ENSP00000264382:p.Glu937Gln	121	0		147	29	NM_001041	0	0	0	0	0	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.167192	0.57476	.	.	ENSG00000090402	ENST00000264382	T	0.14266	2.52	4.94	1.98	0.26296	P-type trefoil (4);	0.875776	0.10174	N	0.706797	T	0.21921	0.0528	M	0.61703	1.905	0.09310	N	1	P	0.41188	0.741	P	0.50708	0.648	T	0.16217	-1.0410	10	0.45353	T	0.12	.	4.6211	0.12450	0.1576:0.6018:0.1529:0.0877	.	937	P14410	SUIS_HUMAN	Q	937	ENSP00000264382:E937Q	ENSP00000264382:E937Q	E	-	1	0	SI	166231277	0.000000	0.05858	0.025000	0.17156	0.467000	0.32768	0.202000	0.17295	1.264000	0.44198	0.655000	0.94253	GAA	.		0.313	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041	
CRIPAK	285464	hgsc.bcm.edu	37	4	1388726	1388726	+	Missense_Mutation	SNP	T	T	C	rs199689156	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr4:1388726T>C	ENST00000324803.4	+	1	3387	c.427T>C	c.(427-429)Tgc>Cgc	p.C143R		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	143					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACGTGCCCATGCGGAGTGCC	0.697																																					p.C143R		.											.	CRIPAK-90	0			c.T427C						.						38.0	37.0	37.0					4																	1388726		1908	3685	5593	SO:0001583	missense	285464	exon1			TGCCCATGCGGAG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.427T>C	4.37:g.1388726T>C	ENSP00000323978:p.Cys143Arg	33	0		146	19	NM_175918	0	0	1	1	0	Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	8.608|8.608	0.888529|0.888529	0.17540|0.17540	.|.	.|.	ENSG00000179979|ENSG00000179979	ENST00000324803|ENST00000382944	T|.	0.29142|.	1.58|.	0.948|0.948	-0.668|-0.668	0.11392|0.11392	Post-SET domain (1);|.	.|.	.|.	.|.	.|.	T|T	0.12860|0.12860	0.0312|0.0312	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.27594|.	0.182|.	B|.	0.13407|.	0.009|.	T|T	0.30621|0.30621	-0.9972|-0.9972	9|6	0.51188|0.06365	T|T	0.08|0.9	.|.	4.4755|4.4755	0.11733|0.11733	0.0:0.2357:0.0:0.7643|0.0:0.2357:0.0:0.7643	.|.	143|.	Q8N1N5|.	CRPAK_HUMAN|.	R|T	143|126	ENSP00000323978:C143R|.	ENSP00000323978:C143R|ENSP00000372402:M126T	C|M	+|+	1|2	0|0	CRIPAK|CRIPAK	1378726|1378726	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.008000|0.008000	0.06430|0.06430	-0.703000|-0.703000	0.05063|0.05063	-0.155000|-0.155000	0.11098|0.11098	0.102000|0.102000	0.15555|0.15555	TGC|ATG	T|0.980;C|0.020		0.697	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
CRIPAK	285464	hgsc.bcm.edu	37	4	1388974	1388974	+	Silent	SNP	T	T	C	rs71614969	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr4:1388974T>C	ENST00000324803.4	+	1	3635	c.675T>C	c.(673-675)gaT>gaC	p.D225D		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	225					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACGTGCCGATGCGGAGTGCC	0.667													N|||	706	0.140974	0.087	0.1888	5008	,	,		14021	0.0268		0.2326	False		,,,				2504	0.2035				p.D225D		.											.	CRIPAK-90	0			c.T675C						.						177.0	128.0	145.0					4																	1388974		2168	4272	6440	SO:0001819	synonymous_variant	285464	exon1			TGCCGATGCGGAG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.675T>C	4.37:g.1388974T>C		3	0		19	17	NM_175918	0	0	6	9	3	Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1																																																																																			C|1.000;|0.000		0.667	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
FAM184B	27146	hgsc.bcm.edu	37	4	17643848	17643848	+	Missense_Mutation	SNP	G	G	A	rs2286771	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr4:17643848G>A	ENST00000265018.3	-	13	2562	c.2350C>T	c.(2350-2352)Cgg>Tgg	p.R784W		NM_015688.1	NP_056503.1	Q9ULE4	F184B_HUMAN	family with sequence similarity 184, member B	784				R -> W (in Ref. 1; BAA86590). {ECO:0000305}.						NS(1)|central_nervous_system(1)|endometrium(1)|prostate(1)	4						GGGCCGCCCCGCTCCTGAGGA	0.701													G|||	2697	0.538538	0.1725	0.6599	5008	,	,		10215	0.8522		0.6233	False		,,,				2504	0.5368				p.R784W		.											.	FAM184B-23	0			c.C2350T						.						1.0	2.0	2.0					4																	17643848		374	1044	1418	SO:0001583	missense	27146	exon13			CGCCCCGCTCCTG		CCDS47033.1	4p16	2009-04-22			ENSG00000047662	ENSG00000047662			29235	protein-coding gene	gene with protein product						10574462	Standard	NM_015688		Approved	KIAA1276	uc003gpm.4	Q9ULE4	OTTHUMG00000160287	ENST00000265018.3:c.2350C>T	4.37:g.17643848G>A	ENSP00000265018:p.Arg784Trp	0	0		6	6	NM_015688	0	0	0	0	0		Missense_Mutation	SNP	ENST00000265018.3	37	CCDS47033.1	1272	0.5824175824175825	75	0.1524390243902439	232	0.6408839779005525	493	0.8618881118881119	472	0.6226912928759895	G	13.83	2.354233	0.41700	.	.	ENSG00000047662	ENST00000265018	T	0.34072	1.38	3.29	-3.67	0.04476	.	3.541600	0.00901	N	0.002342	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	D	0.56968	0.978	B	0.40741	0.339	T	0.48547	-0.9026	9	0.72032	D	0.01	2.0681	6.7491	0.23477	0.107:0.2547:0.5506:0.0877	rs2286771;rs58699512;rs2286771	784	Q9ULE4	F184B_HUMAN	W	784	ENSP00000265018:R784W	ENSP00000265018:R784W	R	-	1	2	FAM184B	17252946	0.000000	0.05858	0.000000	0.03702	0.516000	0.34256	-0.323000	0.07997	-1.014000	0.03379	-0.369000	0.07265	CGG	G|0.440;A|0.560		0.701	FAM184B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360137.1	NM_015688	
DSPP	1834	bcgsc.ca	37	4	88537027	88537027	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr4:88537027C>A	ENST00000282478.7	+	4	3246	c.3213C>A	c.(3211-3213)gaC>gaA	p.D1071E	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.D1071E			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1071	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		atagcagtgacagcagtgaca	0.542																																					p.D1071E		.											.	DSPP-90	0			c.C3213A						.						56.0	66.0	63.0					4																	88537027		1577	2848	4425	SO:0001583	missense	1834	exon5			CAGTGACAGCAGT	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3213C>A	4.37:g.88537027C>A	ENSP00000282478:p.Asp1071Glu	340	1		488	26	NM_014208	0	0	0	0	0	A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	c	2.636	-0.285341	0.05605	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.88124	-2.34;-2.34	1.15	-2.31	0.06765	.	.	.	.	.	T	0.69196	0.3084	L	0.38175	1.15	0.09310	N	1	P	0.46952	0.887	B	0.36766	0.232	T	0.66364	-0.5942	9	0.02654	T	1	.	2.058	0.03586	0.2533:0.3578:0.0:0.3889	.	1071	Q9NZW4	DSPP_HUMAN	E	1071	ENSP00000382213:D1071E;ENSP00000282478:D1071E	ENSP00000282478:D1071E	D	+	3	2	DSPP	88756051	0.029000	0.19370	0.018000	0.16275	0.040000	0.13550	-0.117000	0.10708	-0.986000	0.03498	0.282000	0.19409	GAC	.		0.542	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208	
DSPP	1834	ucsc.edu	37	4	88537081	88537081	+	Silent	SNP	C	C	T	rs367717407|rs370267258	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr4:88537081C>T	ENST00000282478.7	+	4	3300	c.3267C>T	c.(3265-3267)gaC>gaT	p.D1089D	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.D1089D			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1089	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		atagcagtgacagcagcaata	0.537													c|||	838	0.167332	0.2292	0.2133	5008	,	,		14171	0.1131		0.1461	False		,,,				2504	0.1288				p.D1089D		.											.	DSPP-90	0			c.C3267T						.	C		1383,707		577,229,239	19.0	24.0	22.0		3267	0.6	0.0	4		22	2123,1867		754,615,626	no	coding-synonymous	DSPP	NM_014208.3		1331,844,865	TT,TC,CC		46.792,33.8278,42.3355		1089/1302	88537081	3506,2574	1045	1995	3040	SO:0001819	synonymous_variant	1834	exon5			CAGTGACAGCAGC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3267C>T	4.37:g.88537081C>T		143	2		194	67	NM_014208	0	0	0	0	0	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.		0.537	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208	
ANK2	287	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	114244940	114244940	+	Intron	SNP	G	G	T			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr4:114244940G>T	ENST00000357077.4	+	26	2953				ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Missense_Mutation_p.D955Y|ANK2_ENST00000264366.6_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal						atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCTTGAACGTGACAACAGCAG	0.453																																					p.D955Y		.											.	ANK2-583	0			c.G2863T						.						101.0	89.0	92.0					4																	114244940		1568	3582	5150	SO:0001627	intron_variant	287	exon28			GAACGTGACAACA	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.2900+5164G>T	4.37:g.114244940G>T		147	0		161	27	NM_001127493	0	0	0	0	0	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	9.084	0.999974	0.19121	.	.	ENSG00000145362	ENST00000506722;ENST00000343056	T	0.66280	-0.2	5.53	5.53	0.82687	.	.	.	.	.	T	0.67795	0.2931	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72937	-0.4140	9	0.59425	D	0.04	.	19.4713	0.94963	0.0:0.0:1.0:0.0	.	955	Q01484-5	.	Y	955	ENSP00000421067:D955Y	ENSP00000340561:D955Y	D	+	1	0	ANK2	114464389	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.096000	0.94182	2.587000	0.87381	0.563000	0.77884	GAC	.		0.453	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
WDR17	116966	bcgsc.ca	37	4	177061126	177061126	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr4:177061126G>T	ENST00000280190.4	+	11	1670		c.e11+1		WDR17_ENST00000393643.2_Splice_Site|WDR17_ENST00000508596.1_Splice_Site|WDR17_ENST00000507824.2_Splice_Site			Q8IZU2	WDR17_HUMAN	WD repeat domain 17											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		ATGGTTTCTGGTAAGTACTAT	0.338																																					.		.											.	WDR17-95	0			c.1442+1G>T						.						135.0	150.0	145.0					4																	177061126		2203	4299	6502	SO:0001630	splice_region_variant	116966	exon10			TTTCTGGTAAGTA	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1514+1G>T	4.37:g.177061126G>T		62	0		63	4	NM_181265	0	0	0	0	0	E7EQX0|Q0QD35	Splice_Site	SNP	ENST00000280190.4	37	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.264044	0.80358	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6404	0.95755	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR17	177298120	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	9.160000	0.94734	2.712000	0.92718	0.591000	0.81541	.	.		0.338	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2		Intron
SRD5A1	6715	hgsc.bcm.edu	37	5	6633779	6633779	+	Silent	SNP	C	C	G	rs248793	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr5:6633779C>G	ENST00000274192.5	+	1	324	c.90C>G	c.(88-90)cgC>cgG	p.R30R	NSUN2_ENST00000539938.1_5'Flank|SRD5A1_ENST00000504286.1_3'UTR|NSUN2_ENST00000506139.1_5'Flank|SRD5A1_ENST00000538824.1_Missense_Mutation_p.A39G|SRD5A1_ENST00000537411.1_Missense_Mutation_p.A39G|NSUN2_ENST00000264670.6_5'Flank	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	30				Missing (in Ref. 4; AAF14869). {ECO:0000305}.	androgen biosynthetic process (GO:0006702)|cell differentiation (GO:0030154)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|electron carrier activity (GO:0009055)			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)|Levonorgestrel(DB00367)|Spironolactone(DB00421)	TCTTCGCGCGCAATCGTCAGA	0.746													G|||	2833	0.565695	0.6936	0.6816	5008	,	,		9293	0.3899		0.5537	False		,,,				2504	0.5041				p.R30R		.											.	SRD5A1-90	0			c.C90G						.	G		2367,1089		855,657,216	5.0	6.0	5.0		90	0.8	0.0	5	dbSNP_79	5	4176,3144		1277,1622,761	no	coding-synonymous	SRD5A1	NM_001047.2		2132,2279,977	GG,GC,CC		42.9508,31.5104,39.2817		30/260	6633779	6543,4233	1728	3660	5388	SO:0001819	synonymous_variant	6715	exon1			CGCGCGCAATCGT	M32313	CCDS3870.1	5p15.31	2008-02-05			ENSG00000145545	ENSG00000145545	1.3.99.5		11284	protein-coding gene	gene with protein product		184753				1686016	Standard	XR_427663		Approved		uc003jdw.3	P18405	OTTHUMG00000090456	ENST00000274192.5:c.90C>G	5.37:g.6633779C>G		0	0		8	8	NM_001047	0	0	0	0	0	B2R7Q1|Q9UHY4|Q9UP36|Q9UP37	Silent	SNP	ENST00000274192.5	37	CCDS3870.1	1204	0.5512820512820513	332	0.6747967479674797	242	0.6685082872928176	214	0.3741258741258741	416	0.5488126649076517	G	11.09	1.537057	0.27475	0.684896	0.570492	ENSG00000145545	ENST00000537411;ENST00000538824	T	0.23552	1.9	3.76	0.815	0.18763	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28073	-1.0055	7	0.87932	D	0	-7.7997	5.3187	0.15870	0.1814:0.3179:0.5008:0.0	rs248793;rs1691051;rs17850143;rs17850363;rs57936391	39	F5GXK9	.	G	39	ENSP00000440186:A39G	ENSP00000446275:A39G	A	+	2	0	SRD5A1	6686779	0.019000	0.18553	0.000000	0.03702	0.000000	0.00434	1.407000	0.34657	-0.193000	0.10415	-0.132000	0.14878	GCA	C|0.454;G|0.546		0.746	SRD5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206903.1	NM_001047	
DNAH5	1767	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	13913969	13913969	+	Silent	SNP	G	G	A	rs373172723		TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr5:13913969G>A	ENST00000265104.4	-	11	1523	c.1419C>T	c.(1417-1419)ttC>ttT	p.F473F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	473	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.F473F(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GAAAAGTTTCGAATTTTCCAA	0.373									Kartagener syndrome																												p.F473F		.											.	DNAH5-182	1	Substitution - coding silent(1)	kidney(1)	c.C1419T						.	G		0,4406		0,0,2203	110.0	116.0	114.0		1419	0.5	1.0	5		114	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DNAH5	NM_001369.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		473/4625	13913969	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1767	exon11	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AGTTTCGAATTTT	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.1419C>T	5.37:g.13913969G>A		85	0		81	6	NM_001369	0	0	0	0	0	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	CCDS3882.1																																																																																			.		0.373	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
CKMT2	1160	broad.mit.edu;bcgsc.ca	37	5	80550829	80550829	+	Silent	SNP	C	C	T			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr5:80550829C>T	ENST00000424301.2	+	6	703	c.465C>T	c.(463-465)ttC>ttT	p.F155F	CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2_ENST00000254035.4_Silent_p.F155F|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2_ENST00000437669.1_Silent_p.F155F|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000503483.2_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	155					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	AAGGGCAGTTCGACGAGCATT	0.637																																					p.F155F		.											.	CKMT2-90	0			c.C465T						.						55.0	56.0	56.0					5																	80550829		2203	4300	6503	SO:0001819	synonymous_variant	1160	exon6			GCAGTTCGACGAG		CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.465C>T	5.37:g.80550829C>T		169	0		347	10	NM_001825	0	0	7	7	0	Q6ICS8|Q8N1E1	Silent	SNP	ENST00000424301.2	37	CCDS4053.1																																																																																			.		0.637	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1	NM_001825	
GPR150	285601	hgsc.bcm.edu	37	5	94956619	94956619	+	Missense_Mutation	SNP	G	G	C	rs113272282	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr5:94956619G>C	ENST00000380007.2	+	1	838	c.640G>C	c.(640-642)Gag>Cag	p.E214Q		NM_199243.1	NP_954713.1	Q8NGU9	GP150_HUMAN	G protein-coupled receptor 150	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			lung(2)	2		all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)		all cancers(79;1.82e-16)		ctggccgggggAGCGTCGCTG	0.776													G|||	694	0.138578	0.0234	0.1686	5008	,	,		7065	0.1468		0.2465	False		,,,				2504	0.1534				p.E214Q		.											.	GPR150-90	0			c.G640C						.	G	GLN/GLU	75,3147		0,75,1536	3.0	4.0	4.0		640	2.0	0.0	5	dbSNP_132	4	735,6191		30,675,2758	no	missense	GPR150	NM_199243.1	29	30,750,4294	CC,CG,GG		10.6122,2.3277,7.9819	benign	214/435	94956619	810,9338	1611	3463	5074	SO:0001583	missense	285601	exon1			CCGGGGGAGCGTC	BC030197	CCDS4074.1	5q15	2012-08-21			ENSG00000178015	ENSG00000178015		"""GPCR / Class A : Orphans"""	23628	protein-coding gene	gene with protein product						12679517	Standard	NM_199243		Approved	PGR11	uc003kle.1	Q8NGU9	OTTHUMG00000121170	ENST00000380007.2:c.640G>C	5.37:g.94956619G>C	ENSP00000369344:p.Glu214Gln	0	0		20	14	NM_199243	0	0	0	0	0		Missense_Mutation	SNP	ENST00000380007.2	37	CCDS4074.1	341	0.15613553113553114	13	0.026422764227642278	59	0.16298342541436464	100	0.17482517482517482	169	0.22295514511873352	G	0.038	-1.297221	0.01364	0.023277	0.106122	ENSG00000178015	ENST00000380007	T	0.71817	-0.6	3.88	2.04	0.26737	GPCR, rhodopsin-like superfamily (1);	1.060230	0.07549	U	0.915164	T	0.00073	0.0002	L	0.43152	1.355	0.53688	P	2.199999999996649E-5	B	0.25351	0.124	B	0.22880	0.042	T	0.03384	-1.1042	9	0.17369	T	0.5	-1.808	8.2918	0.31963	0.0935:0.2949:0.6117:0.0	.	214	Q8NGU9	GP150_HUMAN	Q	214	ENSP00000369344:E214Q	ENSP00000369344:E214Q	E	+	1	0	GPR150	94982375	0.996000	0.38824	0.004000	0.12327	0.017000	0.09413	0.923000	0.28757	0.002000	0.14630	-1.943000	0.00494	GAG	G|0.844;C|0.156		0.776	GPR150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241657.2		
CD14	929	broad.mit.edu	37	5	140012352	140012352	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr5:140012352C>A	ENST00000302014.6	-	2	846	c.217G>T	c.(217-219)Gtc>Ttc	p.V73F	CD14_ENST00000401743.2_Missense_Mutation_p.V73F	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	73	Ligand-binding pocket rim.				apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|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 signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGCATCGACGCGCTTTAGA	0.632																																					p.V73F		.											.	CD14-90	0			c.G217T						.						35.0	36.0	36.0					5																	140012352		2203	4300	6503	SO:0001583	missense	929	exon3			CATCGACGCGCTT		CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458		"""CD molecules"""	1628	protein-coding gene	gene with protein product		158120	"""CD14 antigen"""			2472171, 2462937	Standard	NM_000591		Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.217G>T	5.37:g.140012352C>A	ENSP00000304236:p.Val73Phe	55	0		106	4	NM_001174105	0	0	4	4	0	Q53XT5|Q96FR6|Q96L99|Q9UNS3	Missense_Mutation	SNP	ENST00000302014.6	37	CCDS4232.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999538	0.54147	.	.	ENSG00000170458	ENST00000302014;ENST00000401743;ENST00000498971;ENST00000519715	D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76	5.87	5.0	0.66597	.	1.225160	0.06630	U	0.758976	D	0.85691	0.5755	L	0.34521	1.04	0.09310	N	1	B	0.34329	0.449	B	0.26517	0.07	T	0.75619	-0.3255	10	0.56958	D	0.05	-8.652	10.8824	0.46946	0.0:0.9138:0.0:0.0862	.	73	P08571	CD14_HUMAN	F	73	ENSP00000304236:V73F;ENSP00000385519:V73F;ENSP00000426543:V73F;ENSP00000430884:V73F	ENSP00000304236:V73F	V	-	1	0	CD14	139992536	0.006000	0.16342	0.003000	0.11579	0.013000	0.08279	1.862000	0.39448	1.487000	0.48415	0.655000	0.94253	GTC	.		0.632	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251681.2	NM_000591	
DND1	373863	hgsc.bcm.edu	37	5	140052320	140052320	+	Missense_Mutation	SNP	T	T	C	rs201446376	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr5:140052320T>C	ENST00000542735.1	-	3	357	c.314A>G	c.(313-315)tAc>tGc	p.Y105C		NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	105	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of gene silencing by miRNA (GO:0060965)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCGAGCTGTAGCGGGCATA	0.687																																					p.Y105C		.											.	DND1-90	0			c.A314G						.						9.0	11.0	10.0					5																	140052320		2177	4273	6450	SO:0001583	missense	373863	exon3			GAGCTGTAGCGGG	AY321065	CCDS4236.1	5q31.3	2013-07-31	2013-07-31		ENSG00000256453	ENSG00000256453		"""RNA binding motif (RRM) containing"""	23799	protein-coding gene	gene with protein product		609385	"""dead end homolog 1 (zebrafish)"""			12932328	Standard	NM_194249		Approved	MGC34750, RBMS4	uc003lgt.3	Q8IYX4	OTTHUMG00000129499	ENST00000542735.1:c.314A>G	5.37:g.140052320T>C	ENSP00000445366:p.Tyr105Cys	8	0		76	7	NM_194249	0	0	4	4	0		Missense_Mutation	SNP	ENST00000542735.1	37	CCDS4236.1	.	.	.	.	.	.	.	.	.	.	T	16.04	3.009699	0.54361	.	.	ENSG00000256453	ENST00000542735	T	0.21191	2.02	5.71	5.71	0.89125	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000005	T	0.60573	0.2279	H	0.97365	3.99	0.58432	D	0.999997	D	0.57899	0.981	D	0.63033	0.91	T	0.76116	-0.3077	10	0.87932	D	0	-15.4633	15.6328	0.76926	0.0:0.0:0.0:1.0	.	105	Q8IYX4	DND1_HUMAN	C	105	ENSP00000445366:Y105C	ENSP00000445366:Y105C	Y	-	2	0	DND1	140032504	1.000000	0.71417	1.000000	0.80357	0.203000	0.24098	7.940000	0.87693	2.180000	0.69256	0.377000	0.23210	TAC	T|0.983;C|0.016		0.687	DND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251669.2	NM_194249	
PCDHB10	56126	hgsc.bcm.edu	37	5	140572420	140572420	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr5:140572420A>G	ENST00000239446.4	+	1	479	c.295A>G	c.(295-297)Aaa>Gaa	p.K99E		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	99	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGTGGCCCTAAAGAGCCCTG	0.458																																					p.K99E		.											.	PCDHB10-92	0			c.A295G						.						36.0	36.0	36.0					5																	140572420		2080	4206	6286	SO:0001583	missense	56126	exon1			GGCCCTAAAGAGC	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.295A>G	5.37:g.140572420A>G	ENSP00000239446:p.Lys99Glu	264	0		518	75	NM_018930	0	0	0	0	0	Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	A	5.158	0.214807	0.09810	.	.	ENSG00000120324	ENST00000239446	T	0.27557	1.66	3.46	2.28	0.28536	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.20210	0.0486	N	0.20328	0.56	0.09310	N	1	B	0.22851	0.076	B	0.29440	0.102	T	0.27262	-1.0079	9	0.72032	D	0.01	.	5.9424	0.19199	0.7778:0.0:0.2222:0.0	.	99	Q9UN67	PCDBA_HUMAN	E	99	ENSP00000239446:K99E	ENSP00000239446:K99E	K	+	1	0	PCDHB10	140552604	0.000000	0.05858	0.104000	0.21259	0.303000	0.27691	-0.528000	0.06193	0.553000	0.29044	0.449000	0.29647	AAA	A|0.986;G|0.014		0.458	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930	
KCTD16	57528	broad.mit.edu	37	5	143853531	143853531	+	Frame_Shift_Del	DEL	A	A	-			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr5:143853531delA	ENST00000507359.3	+	3	2232	c.1141delA	c.(1141-1143)aaafs	p.K383fs	KCTD16_ENST00000512467.1_Frame_Shift_Del_p.K383fs	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	383					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CATGAGCAGCAAAAAAAAAGC	0.468																																					p.K381fs		.											.	KCTD16-137	0			c.1141delA						.			51,4211		5,41,2085	53.0	63.0	59.0			4.8	1.0	5		61	75,8177		18,39,4069	no	frameshift	KCTD16	NM_020768.3		23,80,6154	A1A1,A1R,RR		0.9089,1.1966,1.0069			143853531	126,12388	2203	4300	6503	SO:0001589	frameshift_variant	57528	exon4			AGCAGCAAAAAAA	AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"""potassium channel tetramerisation domain containing 16"""			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.1141delA	5.37:g.143853531delA	ENSP00000426548:p.Lys383fs	124	0		237	7	NM_020768	0	0	0	0	0	Q9P2M9	Frame_Shift_Del	DEL	ENST00000507359.3	37	CCDS34260.1																																																																																			.		0.468	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	XM_098368	
GRM6	2916	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	178419079	178419079	+	Silent	SNP	G	G	A			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr5:178419079G>A	ENST00000517717.1	-	3	548	c.510C>T	c.(508-510)ccC>ccT	p.P170P	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Silent_p.P170P			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	170					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AGCTGATCTGGGGTATCTGTG	0.632																																					p.P170P		.											.	GRM6-588	0			c.C510T						.						28.0	30.0	30.0					5																	178419079		2203	4300	6503	SO:0001819	synonymous_variant	2916	exon2			GATCTGGGGTATC	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.510C>T	5.37:g.178419079G>A		48	0		132	79	NM_000843	0	0	0	0	0		Silent	SNP	ENST00000517717.1	37	CCDS4442.1																																																																																			.		0.632	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2		
CANX	821	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	179149880	179149880	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr5:179149880A>G	ENST00000247461.4	+	11	1458	c.1258A>G	c.(1258-1260)Agt>Ggt	p.S420G	CANX_ENST00000512607.2_Missense_Mutation_p.S312G|CANX_ENST00000504734.1_Missense_Mutation_p.S420G|CANX_ENST00000415618.2_Missense_Mutation_p.S455G|CANX_ENST00000452673.2_Missense_Mutation_p.S420G	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	420					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	GACTCCTTTTAGTGCTATTGG	0.368																																					p.S420G		.											.	CANX-90	0			c.A1258G						.						120.0	123.0	122.0					5																	179149880		2203	4300	6503	SO:0001583	missense	821	exon11			CCTTTTAGTGCTA	L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"""major histocompatibility complex class I antigen-binding protein p88"""	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.1258A>G	5.37:g.179149880A>G	ENSP00000247461:p.Ser420Gly	50	0		137	28	NM_001746	0	0	13	13	0	B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Missense_Mutation	SNP	ENST00000247461.4	37	CCDS4447.1	.	.	.	.	.	.	.	.	.	.	A	9.904	1.207617	0.22205	.	.	ENSG00000127022	ENST00000504734;ENST00000415618;ENST00000452673;ENST00000247461;ENST00000512607	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	5.64	5.64	0.86602	Concanavalin A-like lectin/glucanase (1);	0.238835	0.56097	D	0.000031	T	0.26846	0.0657	N	0.12182	0.205	0.54753	D	0.999983	B;B	0.12630	0.006;0.002	B;B	0.17433	0.018;0.016	T	0.13229	-1.0517	10	0.07990	T	0.79	-6.0879	11.2694	0.49129	0.8637:0.0:0.0:0.1363	.	455;420	B4DGP8;P27824	.;CALX_HUMAN	G	420;455;420;420;312	ENSP00000424063:S420G;ENSP00000394817:S455G;ENSP00000391646:S420G;ENSP00000247461:S420G;ENSP00000423588:S312G	ENSP00000247461:S420G	S	+	1	0	CANX	179082486	1.000000	0.71417	0.229000	0.23960	0.112000	0.19704	7.338000	0.79269	2.274000	0.75844	0.528000	0.53228	AGT	.		0.368	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253500.2	NM_001024649	
PPP1R3G	648791	hgsc.bcm.edu	37	6	5086070	5086070	+	Silent	SNP	A	A	G	rs667752		TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr6:5086070A>G	ENST00000405617.2	+	1	351	c.351A>G	c.(349-351)gcA>gcG	p.A117A		NM_001145115.1	NP_001138587.1	B7ZBB8	PP13G_HUMAN	protein phosphatase 1, regulatory subunit 3G	117					glucose homeostasis (GO:0042593)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)	cytoplasm (GO:0005737)	glycogen binding (GO:2001069)			kidney(2)	2						CGGAGGACGCACAGCTCGGCC	0.692													G|||	5008	1.0	1.0	1.0	5008	,	,		12505	1.0		1.0	False		,,,				2504	1.0				p.A117A		.											.	PPP1R3G-136	0			c.A351G						.						1.0	2.0	2.0					6																	5086070		400	1062	1462	SO:0001819	synonymous_variant	648791	exon1			GGACGCACAGCTC		CCDS47366.1	6p25.1	2012-04-17	2011-10-04		ENSG00000219607	ENSG00000219607		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14945	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3G"""			11948623	Standard	NM_001145115		Approved		uc011dia.1	B7ZBB8	OTTHUMG00000014172	ENST00000405617.2:c.351A>G	6.37:g.5086070A>G		0	0		13	13	NM_001145115	0	0	0	0	0		Silent	SNP	ENST00000405617.2	37	CCDS47366.1																																																																																			A|0.006;G|0.994		0.692	PPP1R3G-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039740.3	NM_001145115	
CYP21A2	1589	bcgsc.ca	37	6	32006886	32006886	+	Missense_Mutation	SNP	G	G	A	rs397515530	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr6:32006886G>A	ENST00000418967.2	+	3	466	c.308G>A	c.(307-309)aGg>aAg	p.R103K	C4B-AS1_ENST00000415626.1_RNA|CYP21A2_ENST00000435122.2_Missense_Mutation_p.R73K	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	102					glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 21-monooxygenase activity (GO:0004509)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11					Ketoconazole(DB01026)	CTGGTGTCTAGGAACTACCCG	0.622													A|||	1076	0.214856	0.0227	0.3718	5008	,	,		13967	0.2173		0.339	False		,,,				2504	0.2331				.	Melanoma(174;1669 1998 3915 34700 46447)	.											.	CYP21A2-68	0			.						.	A	LYS/ARG,LYS/ARG	305,4097		19,267,1915	32.0	30.0	31.0		308,218	-4.4	0.0	6	dbSNP_52	31	2705,5895		427,1851,2022	no	missense,missense	CYP21A2	NM_000500.7,NM_001128590.3	26,26	446,2118,3937	AA,AG,GG		31.4535,6.9287,23.1503	benign,benign	103/496,73/466	32006886	3010,9992	2201	4300	6501	SO:0001583	missense	1589	.			TGTCTAGGAACTA	X58906	CCDS4735.1, CCDS47406.1	6p21.3	2014-09-17	2003-01-14		ENSG00000231852	ENSG00000231852	1.14.99.10	"""Cytochrome P450s"""	2600	protein-coding gene	gene with protein product	"""Steroid 21-monooxygenase"""	613815	"""cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2"""	CYP21, CYP21B			Standard	NM_000500		Approved	P450c21B, CA21H, CPS1, CAH1	uc021yvd.1	P08686	OTTHUMG00000031069	ENST00000418967.2:c.308G>A	6.37:g.32006886G>A	ENSP00000408860:p.Arg103Lys	291	3		204	6	.	0	0	1	3	2	A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8	Splice_Site	SNP	ENST00000418967.2	37	CCDS4735.1	555	0.2541208791208791	16	0.032520325203252036	146	0.40331491712707185	135	0.23601398601398602	258	0.3403693931398417	A	1.410	-0.575885	0.03882	0.069287	0.314535	ENSG00000231852	ENST00000418967;ENST00000478281;ENST00000471671;ENST00000435122	T;T;T;T	0.79352	-0.3;-0.27;-0.3;-1.26	4.24	-4.44	0.03557	.	1.457070	0.04621	N	0.401961	T	0.21509	0.0518	.	.	.	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.08472	-1.0720	8	0.07325	T	0.83	.	0.5233	0.00616	0.2535:0.1425:0.1853:0.4187	rs6474;rs1136162;rs60600717;rs6474	73;103	Q5ST44;Q16874	.;.	K	103;114;103;73	ENSP00000408860:R103K;ENSP00000419572:R114K;ENSP00000418561:R103K;ENSP00000415043:R73K	ENSP00000408860:R103K	R	+	2	0	CYP21A2	32114865	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-1.034000	0.03567	-1.185000	0.02716	-0.360000	0.07572	AGG	G|0.763;A|0.237		0.622	CYP21A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268768.2	NM_000500	
ITPR3	3710	bcgsc.ca	37	6	33657016	33657016	+	Splice_Site	SNP	C	C	T	rs150616390	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr6:33657016C>T	ENST00000374316.5	+	51	7756	c.6696C>T	c.(6694-6696)ggC>ggT	p.G2232G	ITPR3_ENST00000605930.1_Splice_Site_p.G2232G			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2232					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GGCCCCCAGGCGTGCTGGACT	0.647													C|||	7	0.00139776	0.0038	0.0029	5008	,	,		18815	0.0		0.0	False		,,,				2504	0.0				p.G2232G		.											.	ITPR3-1085	0			c.C6696T						.	C		28,4378	34.3+/-65.2	0,28,2175	114.0	101.0	105.0		6696	-10.1	0.3	6	dbSNP_134	105	0,8600		0,0,4300	yes	coding-synonymous-near-splice	ITPR3	NM_002224.3		0,28,6475	TT,TC,CC		0.0,0.6355,0.2153		2232/2672	33657016	28,12978	2203	4300	6503	SO:0001630	splice_region_variant	3710	exon50			CCCAGGCGTGCTG	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.6695-1C>T	6.37:g.33657016C>T		43	0		34	7	NM_002224	0	0	0	0	0	Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	CCDS4783.1																																																																																			C|0.999;T|0.001		0.647	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224	Silent
MCM9	254394	bcgsc.ca	37	6	119136759	119136759	+	Missense_Mutation	SNP	A	A	C	rs65685	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr6:119136759A>C	ENST00000316316.6	-	13	2946	c.2660T>G	c.(2659-2661)aTg>aGg	p.M887R		NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	887					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		TGAGTCCAGCATTCTGTCTGG	0.532													A|||	454	0.090655	0.034	0.1037	5008	,	,		19843	0.0605		0.1262	False		,,,				2504	0.1524				p.M887R		.											.	MCM9-515	0			c.T2660G						.																																			SO:0001583	missense	254394	exon12			TCCAGCATTCTGT	BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"""minichromosome maintenance deficient domain containing 1"", ""chromosome 6 open reading frame 61"""	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.2660T>G	6.37:g.119136759A>C	ENSP00000314505:p.Met887Arg	51	0		65	4	NM_017696	0	0	0	0	0	B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Missense_Mutation	SNP	ENST00000316316.6	37	CCDS56447.1	192	0.08791208791208792	20	0.04065040650406504	43	0.11878453038674033	34	0.05944055944055944	95	0.12532981530343007	A	6.329	0.428846	0.11987	.	.	ENSG00000111877	ENST00000316316;ENST00000243218	T	0.03301	3.98	6.03	-12.1	0.00011	.	.	.	.	.	T	0.00241	0.0007	N	0.01352	-0.895	0.80722	P	0.0	.	.	.	.	.	.	T	0.49615	-0.8921	6	0.13470	T	0.59	.	0.0368	0.00007	0.2851:0.2236:0.2089:0.2823	rs65685;rs3751443;rs17235356;rs60968013;rs65685	.	.	.	R	887;506	ENSP00000314505:M887R	ENSP00000243218:M506R	M	-	2	0	MCM9	119243462	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.254000	0.02874	-2.074000	0.00877	-0.177000	0.13119	ATG	A|0.878;C|0.085		0.532	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042005.4	NM_153255	
LAMA2	3908	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	129381036	129381036	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr6:129381036C>A	ENST00000421865.2	+	3	440	c.391C>A	c.(391-393)Cag>Aag	p.Q131K		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	131	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCTGGATTTACAGCAGGTATA	0.363																																					p.Q131K		.											.	LAMA2-162	0			c.C391A						.						125.0	109.0	114.0					6																	129381036		2203	4300	6503	SO:0001583	missense	3908	exon3			GATTTACAGCAGG	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.391C>A	6.37:g.129381036C>A	ENSP00000400365:p.Gln131Lys	267	1		229	28	NM_000426	0	0	0	0	0	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.051238	0.36181	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.74842	-0.88	5.51	5.51	0.81932	Laminin, N-terminal (3);	0.067205	0.64402	D	0.000011	T	0.38480	0.1042	N	0.05306	-0.075	0.41963	D	0.990717	B;B	0.17465	0.022;0.022	B;B	0.17433	0.018;0.018	T	0.47699	-0.9097	10	0.07990	T	0.79	.	19.4688	0.94954	0.0:1.0:0.0:0.0	.	131;131	A6NF00;P24043	.;LAMA2_HUMAN	K	131	ENSP00000400365:Q131K	ENSP00000346769:Q131K	Q	+	1	0	LAMA2	129422729	0.992000	0.36948	1.000000	0.80357	0.856000	0.48823	2.801000	0.47908	2.611000	0.88343	0.580000	0.79431	CAG	.		0.363	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
LRP11	84918	hgsc.bcm.edu	37	6	150184882	150184882	+	Missense_Mutation	SNP	G	G	C	rs9322225	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr6:150184882G>C	ENST00000239367.2	-	1	280	c.275C>G	c.(274-276)cCg>cGg	p.P92R	RP11-244K5.8_ENST00000596229.1_RNA|RP11-244K5.8_ENST00000606915.1_RNA|LRP11_ENST00000546019.1_Intron|LRP11_ENST00000367368.2_Missense_Mutation_p.P92R	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	92			P -> R (in dbSNP:rs9322225). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		GCCGCTGCCCGGGCCCGGGCA	0.756													g|||	2394	0.478035	0.3071	0.5101	5008	,	,		7691	0.8224		0.4165	False		,,,				2504	0.3947				p.P92R		.											.	LRP11-90	0			c.C275G						.	G	ARG/PRO	799,1991		151,497,747	2.0	2.0	2.0		275	3.0	0.3	6	dbSNP_119	2	2072,3740		444,1184,1278	yes	missense	LRP11	NM_032832.5	103	595,1681,2025	CC,CG,GG		35.6504,28.638,33.376	possibly-damaging	92/501	150184882	2871,5731	1395	2906	4301	SO:0001583	missense	84918	exon1			CTGCCCGGGCCCG	AK027641	CCDS5220.1	6q24.3	2013-02-27			ENSG00000120256	ENSG00000120256		"""Low density lipoprotein receptors"""	16936	protein-coding gene	gene with protein product							Standard	NM_032832		Approved	bA350J20.3, MANSC3	uc003qng.2	Q86VZ4	OTTHUMG00000015801	ENST00000239367.2:c.275C>G	6.37:g.150184882G>C	ENSP00000239367:p.Pro92Arg	0	0		9	9	NM_032832	0	0	0	0	0	Q5VYC0|Q96SN6	Missense_Mutation	SNP	ENST00000239367.2	37	CCDS5220.1	1110	0.5082417582417582	147	0.29878048780487804	188	0.5193370165745856	465	0.8129370629370629	310	0.40897097625329815	G	12.02	1.812850	0.32053	0.28638	0.356504	ENSG00000120256	ENST00000239367;ENST00000367368	T;T	0.20463	2.07;2.07	3.91	2.96	0.34315	Seven cysteines, N-terminal (2);	1.059560	0.07539	N	0.913589	T	0.07279	0.0184	L	0.36672	1.1	0.51767	P	7.00000000000145E-5	B;B	0.25743	0.133;0.012	B;B	0.23150	0.044;0.025	T	0.19484	-1.0304	9	0.19590	T	0.45	-4.154	11.8365	0.52327	0.0:0.1787:0.8213:0.0	rs9322225;rs17846346;rs17859381	92;92	Q5VYB9;Q86VZ4	.;LRP11_HUMAN	R	92	ENSP00000239367:P92R;ENSP00000356338:P92R	ENSP00000239367:P92R	P	-	2	0	LRP11	150226575	0.132000	0.22450	0.342000	0.25602	0.428000	0.31595	0.489000	0.22387	1.900000	0.55004	0.484000	0.47621	CCG	G|0.492;C|0.508		0.756	LRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042664.1	NM_032832	
EZR	7430	broad.mit.edu	37	6	159188467	159188467	+	Silent	SNP	T	T	G			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr6:159188467T>G	ENST00000367075.3	-	13	1590	c.1422A>C	c.(1420-1422)ccA>ccC	p.P474P	MIR3918_ENST00000581555.1_RNA|EZR_ENST00000392177.4_Silent_p.P442P|EZR_ENST00000337147.7_Silent_p.P474P	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	474	Interaction with SCYL3.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		ACACGGGGGGTGGTGGGGGCG	0.602			T	ROS1	NSCLC																																p.P474P		.		Dom	yes		6	6q25.3	7430	ezrin		E	.	EZR-70	0			c.A1422C						.						45.0	50.0	49.0					6																	159188467		2201	4300	6501	SO:0001819	synonymous_variant	7430	exon12			GGGGGGTGGTGGG	AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"""A-kinase anchor proteins"""	12691	protein-coding gene	gene with protein product	"""cytovillin 2"""	123900	"""villin 2 (ezrin)"""	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.1422A>C	6.37:g.159188467T>G		69	11		90	21	NM_003379	0	0	17	18	1	E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Silent	SNP	ENST00000367075.3	37	CCDS5258.1																																																																																			.		0.602	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042878.1	NM_003379	
TNRC18	84629	hgsc.bcm.edu	37	7	5372406	5372406	+	Silent	SNP	G	G	T	rs13238738	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr7:5372406G>T	ENST00000430969.1	-	19	6342	c.5994C>A	c.(5992-5994)cgC>cgA	p.R1998R	TNRC18_ENST00000399537.4_Silent_p.R1998R	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1998							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TGCGCTCGCTGCGGCGCCGCG	0.756													G|||	2646	0.528355	0.3601	0.4352	5008	,	,		9503	0.7063		0.673	False		,,,				2504	0.4898				p.R1998R		.											.	TNRC18-46	0			c.C5994A						.	G		1260,1040		370,520,260	2.0	3.0	3.0		5994	2.1	1.0	7	dbSNP_121	3	3787,1581		1438,911,335	no	coding-synonymous	TNRC18	NM_001080495.2		1808,1431,595	TT,TG,GG		29.4523,45.2174,34.181		1998/2969	5372406	5047,2621	1150	2684	3834	SO:0001819	synonymous_variant	84629	exon19			CTCGCTGCGGCGC	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.5994C>A	7.37:g.5372406G>T		0	0		11	11	NM_001080495	0	0	0	0	0	A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	CCDS47534.1	1284	0.5879120879120879	197	0.40040650406504064	170	0.4696132596685083	415	0.7255244755244755	502	0.662269129287599	.	11.77	1.738038	0.30774	0.547826	0.705477	ENSG00000182095	ENST00000455076	.	.	.	4.14	2.1	0.27182	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999956	.	.	.	.	.	.	T	0.35425	-0.9789	3	.	.	.	.	12.3787	0.55295	0.0:0.4664:0.5335:0.0	rs13238738	.	.	.	E	35	.	.	A	-	2	0	TNRC18	5338932	0.998000	0.40836	0.997000	0.53966	0.996000	0.88848	0.427000	0.21379	0.648000	0.30732	0.555000	0.69702	GCA	G|0.411;T|0.589		0.756	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
C7orf25	79020	hgsc.bcm.edu	37	7	42951515	42951515	+	5'UTR	SNP	G	G	A	rs647117	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr7:42951515G>A	ENST00000350427.4	-	0	253				C7orf25_ENST00000438029.1_5'Flank|C7orf25_ENST00000447342.1_5'UTR|C7orf25_ENST00000431882.2_Splice_Site_p.P51L|PSMA2_ENST00000442788.1_Intron			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25											endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						GCTCCTCACCGGCAGCGCCAG	0.776													G|||	3157	0.630391	0.2375	0.6441	5008	,	,		8870	0.8115		0.7942	False		,,,				2504	0.7965				p.P51L		.											.	C7orf25-69	0			c.C152T						.						1.0	3.0	3.0					7																	42951515		861	2341	3202	SO:0001623	5_prime_UTR_variant	79020	exon1			CTCACCGGCAGCG	BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197			21703	protein-coding gene	gene with protein product							Standard	NM_024054		Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.-23C>T	7.37:g.42951515G>A		0	0		5	5	NM_001099858	0	0	0	0	0	A4D1V2|J3KR36|Q9H779	Missense_Mutation	SNP	ENST00000350427.4	37	CCDS5466.1	1440	0.6593406593406593	138	0.2804878048780488	246	0.6795580110497238	462	0.8076923076923077	594	0.783641160949868	G	17.15	3.315246	0.60524	.	.	ENSG00000136197	ENST00000431882	T	0.44482	0.92	4.32	-8.46	0.00942	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999987487	.	.	.	.	.	.	T	0.15321	-1.0441	5	0.42905	T	0.14	.	8.9128	0.35563	0.2569:0.4962:0.2469:0.0	rs647117;rs1649752;rs28969568	.	.	.	L	51	ENSP00000416290:P51L	ENSP00000416290:P51L	P	-	2	0	C7orf25	42918040	0.031000	0.19500	0.336000	0.25522	0.890000	0.51754	-1.574000	0.02133	-1.368000	0.02149	0.455000	0.32223	CCG	G|0.340;A|0.660		0.776	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2	NM_024054	
FBXL13	222235	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	102553550	102553550	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr7:102553550G>A	ENST00000313221.4	-	11	1417	c.991C>T	c.(991-993)Ctc>Ttc	p.L331F	FBXL13_ENST00000455112.2_Missense_Mutation_p.L331F|FBXL13_ENST00000379308.3_Missense_Mutation_p.L331F|FBXL13_ENST00000379306.3_Missense_Mutation_p.L331F|FBXL13_ENST00000379305.3_Missense_Mutation_p.L331F|LRRC17_ENST00000339431.4_5'UTR|FBXL13_ENST00000456695.1_Missense_Mutation_p.L331F|FBXL13_ENST00000393772.2_Missense_Mutation_p.L331F|FBXL13_ENST00000436908.1_Missense_Mutation_p.L331F|LRRC17_ENST00000249377.4_5'UTR	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	331										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CAGCCAGAGAGGTCCAGATAG	0.483																																					p.L331F		.											.	FBXL13-226	0			c.C991T						.						140.0	124.0	130.0					7																	102553550		2203	4300	6503	SO:0001583	missense	222235	exon11			CAGAGAGGTCCAG	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.991C>T	7.37:g.102553550G>A	ENSP00000321927:p.Leu331Phe	142	0		138	13	NM_001111038	0	0	1	1	0	C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	ENST00000313221.4	37	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522051	0.64747	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112	T;T;T;T;T;T;T;T	0.72615	4.1;4.1;4.16;4.1;-0.67;-0.67;4.16;4.1	5.43	4.55	0.56014	.	0.000000	0.64402	D	0.000002	D	0.84790	0.5550	M	0.86268	2.805	0.80722	D	1	D;D;D;D	0.89917	0.994;0.989;1.0;0.995	D;D;D;D	0.77004	0.925;0.938;0.989;0.927	D	0.86863	0.2031	10	0.54805	T	0.06	.	14.5735	0.68229	0.0:0.0:0.6614:0.3385	.	331;331;331;331	Q8NEE6-3;Q8NEE6-4;Q8NEE6-2;Q8NEE6	.;.;.;FXL13_HUMAN	F	331	ENSP00000377367:L331F;ENSP00000368610:L331F;ENSP00000368608:L331F;ENSP00000368607:L331F;ENSP00000388608:L331F;ENSP00000321927:L331F;ENSP00000409716:L331F;ENSP00000391550:L331F	ENSP00000321927:L331F	L	-	1	0	FBXL13	102340786	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.108000	0.50337	1.508000	0.48769	-0.181000	0.13052	CTC	.		0.483	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032	
ASB15	142685	bcgsc.ca	37	7	123269118	123269118	+	Missense_Mutation	SNP	G	G	C	rs4731112	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr7:123269118G>C	ENST00000451558.1	+	12	1591	c.1070G>C	c.(1069-1071)gGc>gCc	p.G357A	ASB15_ENST00000275699.3_Missense_Mutation_p.G357A|ASB15_ENST00000434204.1_Missense_Mutation_p.G357A|ASB15_ENST00000451215.1_Missense_Mutation_p.G357A|ASB15_ENST00000540573.1_Missense_Mutation_p.G357A			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	357			G -> A (in dbSNP:rs4731112). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005}.		intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CTGTATTTTGGCGTTTCTAAT	0.463													C|||	3965	0.791733	0.8215	0.7406	5008	,	,		21759	0.8284		0.7078	False		,,,				2504	0.8364				p.G357A		.											.	ASB15-228	0			c.G1070C						.	C	ALA/GLY	3524,882	343.8+/-307.8	1416,692,95	155.0	140.0	145.0		1070	6.2	1.0	7	dbSNP_111	145	5836,2764	439.1+/-359.1	1975,1886,439	yes	missense	ASB15	NM_080928.3	60	3391,2578,534	CC,CG,GG		32.1395,20.0182,28.0332	benign	357/589	123269118	9360,3646	2203	4300	6503	SO:0001583	missense	142685	exon8			ATTTTGGCGTTTC	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1070G>C	7.37:g.123269118G>C	ENSP00000397655:p.Gly357Ala	265	1		338	9	NM_080928	0	0	0	0	0	Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	ENST00000451558.1	37	CCDS34742.1	1691	0.7742673992673993	403	0.8191056910569106	272	0.7513812154696132	471	0.8234265734265734	545	0.7189973614775725	C	9.046	0.990777	0.18966	0.799818	0.678605	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000275699	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	6.17	6.17	0.99709	Ankyrin repeat-containing domain (4);	0.000000	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00006	-3.225	0.40016	P	0.024648000000000003	B	0.02656	0.0	B	0.01281	0.0	T	0.48514	-0.9029	9	0.02654	T	1	.	17.8655	0.88794	0.0:0.8784:0.1216:0.0	rs4731112;rs17694255;rs56615999;rs59693441;rs4731112	357	Q8WXK1	ASB15_HUMAN	A	357;357;357;357;146;357	ENSP00000397655:G357A;ENSP00000390963:G357A;ENSP00000416433:G357A;ENSP00000438643:G357A;ENSP00000275699:G357A	ENSP00000275699:G357A	G	+	2	0	ASB15	123056354	1.000000	0.71417	0.953000	0.39169	0.902000	0.53008	5.778000	0.68940	1.643000	0.50594	-0.120000	0.15030	GGC	G|0.256;C|0.744		0.463	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1		
ZNF467	168544	hgsc.bcm.edu	37	7	149462337	149462337	+	Silent	SNP	G	G	A	rs855667	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr7:149462337G>A	ENST00000302017.3	-	5	1667	c.1254C>T	c.(1252-1254)ccC>ccT	p.P418P	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	418					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGGCACCACGGGATCGGATC	0.776													A|||	1297	0.258986	0.6051	0.1513	5008	,	,		9829	0.0774		0.1779	False		,,,				2504	0.138				p.P418P		.											.	ZNF467-90	0			c.C1254T						.	A		1016,1770		158,700,535	2.0	2.0	2.0		1254	-5.3	0.0	7	dbSNP_86	2	781,5233		68,645,2294	no	coding-synonymous	ZNF467	NM_207336.1		226,1345,2829	AA,AG,GG		12.9864,36.4681,20.4205		418/596	149462337	1797,7003	1393	3007	4400	SO:0001819	synonymous_variant	168544	exon5			CACCACGGGATCG	BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"""Zinc fingers, C2H2-type"""	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.1254C>T	7.37:g.149462337G>A		0	0		4	4	NM_207336	0	0	0	0	0		Silent	SNP	ENST00000302017.3	37	CCDS5899.1																																																																																			G|0.763;A|0.237		0.776	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336	
TMEM176A	55365	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	150500884	150500884	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr7:150500884G>T	ENST00000484928.1	+	5	1100	c.519G>T	c.(517-519)agG>agT	p.R173S	TMEM176B_ENST00000447204.2_5'Flank|TMEM176A_ENST00000461345.1_Missense_Mutation_p.R114S|TMEM176A_ENST00000004103.3_Missense_Mutation_p.R173S			Q96HP8	T176A_HUMAN	transmembrane protein 176A	173					negative regulation of dendritic cell differentiation (GO:2001199)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGTCAGAAGGCTACACCTAT	0.587																																					p.R173S		.											.	TMEM176A-92	0			c.G519T						.						54.0	53.0	53.0					7																	150500884		2203	4300	6503	SO:0001583	missense	55365	exon5			CAGAAGGCTACAC	AF258340	CCDS5909.1	7q36.1	2006-09-04			ENSG00000002933	ENSG00000002933			24930	protein-coding gene	gene with protein product		610334				12097419, 8889548	Standard	NM_018487		Approved	HCA112	uc003whx.1	Q96HP8	OTTHUMG00000158114	ENST00000484928.1:c.519G>T	7.37:g.150500884G>T	ENSP00000417626:p.Arg173Ser	71	0		77	19	NM_018487	0	0	0	0	0	D3DX00|Q9NYC7	Missense_Mutation	SNP	ENST00000484928.1	37	CCDS5909.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086658	0.55861	.	.	ENSG00000002933	ENST00000484928;ENST00000004103;ENST00000461345;ENST00000475536;ENST00000468689	T;T;T;T;T	0.36157	4.39;4.39;4.39;4.39;1.27	3.33	2.44	0.29823	.	0.663280	0.15164	N	0.277011	T	0.52581	0.1743	M	0.66939	2.045	0.19300	N	0.999977	D	0.89917	1.0	D	0.87578	0.998	T	0.30031	-0.9992	10	0.72032	D	0.01	-12.1148	6.4493	0.21894	0.1345:0.0:0.8655:0.0	.	173	Q96HP8	T176A_HUMAN	S	173;173;114;125;114	ENSP00000417626:R173S;ENSP00000004103:R173S;ENSP00000420818:R114S;ENSP00000417834:R125S;ENSP00000420081:R114S	ENSP00000004103:R173S	R	+	3	2	TMEM176A	150131817	0.403000	0.25319	0.259000	0.24435	0.339000	0.28857	1.009000	0.29886	0.983000	0.38602	0.455000	0.32223	AGG	.		0.587	TMEM176A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350222.1	NM_018487	
BMP1	649	bcgsc.ca	37	8	22021037	22021037	+	5'Flank	SNP	C	C	A	rs4715	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr8:22021037C>A	ENST00000306385.5	+	0	0				BMP1_ENST00000354870.5_5'Flank|SFTPC_ENST00000437090.2_Missense_Mutation_p.T138N|SFTPC_ENST00000318561.3_Missense_Mutation_p.T138N|SFTPC_ENST00000522109.1_Missense_Mutation_p.T138N|SFTPC_ENST00000520605.1_Missense_Mutation_p.T85N|BMP1_ENST00000397814.3_5'Flank|SFTPC_ENST00000524255.1_Missense_Mutation_p.T85N|SFTPC_ENST00000521315.1_Missense_Mutation_p.T138N|BMP1_ENST00000397816.3_5'Flank|BMP1_ENST00000306349.8_5'Flank	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GAGGCTCTCACTAGAAAAGTC	0.552													C|||	989	0.197484	0.0318	0.2507	5008	,	,		19997	0.2688		0.2644	False		,,,				2504	0.2413				p.T138N		.											.	SFTPC-90	0			c.C413A	GRCh37	CM040798	SFTPC	M	rs4715	.	C	ASN/THR,ASN/THR,ASN/THR	241,3641		12,217,1712	76.0	77.0	77.0		413,413,413	2.5	0.4	8	dbSNP_52	77	2277,6019		308,1661,2179	yes	missense,missense,missense	SFTPC	NM_001172357.1,NM_001172410.1,NM_003018.3	65,65,65	320,1878,3891	AA,AC,CC		27.447,6.2081,20.6766	benign,benign,benign	138/192,138/198,138/198	22021037	2518,9660	1941	4148	6089	SO:0001631	upstream_gene_variant	6440	exon4			CTCTCACTAGAAA		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22021037C>A	Exception_encountered	115	1		127	6	NM_003018	0	0	0	0	0	A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	CCDS6026.1	464	0.21245421245421245	19	0.03861788617886179	95	0.26243093922651933	146	0.25524475524475526	204	0.2691292875989446	C	18.99	3.740275	0.69304	0.062081	0.27447	ENSG00000168484	ENST00000318561;ENST00000521315;ENST00000437090;ENST00000520605;ENST00000522109;ENST00000524255;ENST00000523296	T;T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	5.49	2.47	0.30058	.	0.507841	0.18215	N	0.148061	T	0.00039	0.0001	.	.	.	0.54753	P	1.799999999996249E-5	P;B;P	0.51933	0.949;0.002;0.896	P;B;P	0.54815	0.761;0.004;0.602	T	0.01156	-1.1434	8	0.49607	T	0.09	-1.1419	7.5391	0.27727	0.0:0.7072:0.0:0.2928	rs4715;rs1126717;rs2269331;rs3181906;rs8192341;rs11552818;rs17353998;rs17856155;rs52790253;rs57605652;rs4715	138;138;138	E9PGX3;C9JYF6;E5RI92	.;.;.	N	138;138;138;85;138;85;85	ENSP00000316152:T138N;ENSP00000430410:T138N;ENSP00000407931:T138N;ENSP00000430266:T85N;ENSP00000429496:T138N;ENSP00000429552:T85N;ENSP00000429619:T85N	ENSP00000316152:T138N	T	+	2	0	SFTPC	22076982	0.001000	0.12720	0.423000	0.26634	0.922000	0.55478	0.920000	0.28705	0.200000	0.20447	0.655000	0.94253	ACT	C|0.796;A|0.204		0.552	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132	
ZNF517	340385	hgsc.bcm.edu	37	8	146033347	146033347	+	Missense_Mutation	SNP	T	T	C	rs2976653	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr8:146033347T>C	ENST00000531720.1	+	4	1091	c.1046T>C	c.(1045-1047)gTg>gCg	p.V349A	ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000359971.3_Missense_Mutation_p.V349A			Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	349				V -> A (in Ref. 1; BAD18586). {ECO:0000305}.	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(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GACGGCGGCGTGGGGCAGGGC	0.746													C|||	4981	0.994609	1.0	1.0	5008	,	,		12856	1.0		0.994	False		,,,				2504	0.9785				p.V349A		.											.	ZNF517-90	0			c.T1046C						.	C	ALA/VAL	3411,3		1704,3,0	3.0	5.0	4.0		1046	-0.8	0.0	8	dbSNP_101	4	7050,46		3502,46,0	no	missense	ZNF517	NM_213605.2	64	5206,49,0	CC,CT,TT		0.6483,0.0879,0.4662	benign	349/493	146033347	10461,49	1707	3548	5255	SO:0001583	missense	340385	exon5			GCGGCGTGGGGCA	AK096527	CCDS6434.1	8q24.3	2013-01-08				ENSG00000197363		"""Zinc fingers, C2H2-type"", ""-"""	27984	protein-coding gene	gene with protein product							Standard	NM_213605		Approved		uc003zed.1	Q6ZMY9		ENST00000531720.1:c.1046T>C	8.37:g.146033347T>C	ENSP00000436103:p.Val349Ala	0	0		23	23	NM_213605	0	0	0	0	0		Missense_Mutation	SNP	ENST00000531720.1	37	CCDS6434.1	2179|2179	0.9977106227106227|0.9977106227106227	492|492	1.0|1.0	362|362	1.0|1.0	572|572	1.0|1.0	753|753	0.9934036939313984|0.9934036939313984	C|C	0.021|0.021	-1.418607|-1.418607	0.01136|0.01136	0.999121|0.999121	0.993517|0.993517	ENSG00000197363|ENSG00000197363	ENST00000359971;ENST00000531720|ENST00000529429	T;T|.	0.05319|.	3.46;3.46|.	2.17|2.17	-0.838|-0.838	0.10762|0.10762	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.35644|0.35644	1.08|1.08	0.80722|0.80722	P|P	0.0|0.0	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.21449|0.21449	-1.0245|-1.0245	8|4	0.59425|.	D|.	0.04|.	.|.	0.241|0.241	0.00192|0.00192	0.362:0.2246:0.2135:0.1999|0.362:0.2246:0.2135:0.1999	rs2976653;rs59817342|rs2976653;rs59817342	349|.	Q6ZMY9|.	ZN517_HUMAN|.	A|R	349|316	ENSP00000353058:V349A;ENSP00000436103:V349A|.	ENSP00000353058:V349A|.	V|W	+|+	2|1	0|0	ZNF517|ZNF517	146004151|146004151	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.004000|0.004000	0.04260|0.04260	-0.400000|-0.400000	0.07241|0.07241	-0.612000|-0.612000	0.05701|0.05701	-1.157000|-1.157000	0.01802|0.01802	GTG|TGG	G|0.992;C|0.006		0.746	ZNF517-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382642.1	XM_291261	
CDC37L1	55664	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	4685143	4685143	+	Silent	SNP	G	G	A			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr9:4685143G>A	ENST00000381854.3	+	2	601	c.399G>A	c.(397-399)aaG>aaA	p.K133K	CDC37L1_ENST00000479095.1_3'UTR|CDC37L1_ENST00000381858.1_Silent_p.K133K	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1	133	Self-association.					cytoplasm (GO:0005737)				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		CCATTAGCAAGGATGTTTTTA	0.418																																					p.K133K		.											.	CDC37L1-90	0			c.G399A						.						119.0	123.0	122.0					9																	4685143		2203	4300	6503	SO:0001819	synonymous_variant	55664	exon2			TAGCAAGGATGTT	AK000497	CCDS6454.1	9p24.1	2013-01-17	2013-01-17		ENSG00000106993	ENSG00000106993			17179	protein-coding gene	gene with protein product		610346	"""CDC37 cell division cycle 37 homolog (S. cerevisiae)-like 1"", ""cell division cycle 37 homolog (S. cerevisiae)-like 1"""				Standard	NM_017913		Approved	HARC, FLJ20639, CDC37B	uc003zio.3	Q7L3B6	OTTHUMG00000019465	ENST00000381854.3:c.399G>A	9.37:g.4685143G>A		181	0		181	66	NM_017913	0	0	1	3	2	B1AL70|Q9NWS3|Q9NX16	Silent	SNP	ENST00000381854.3	37	CCDS6454.1																																																																																			.		0.418	CDC37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051564.1	NM_017913	
PTPRD	5789	broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	8485824	8485824	+	Missense_Mutation	SNP	G	G	T	rs547908736		TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr9:8485824G>T	ENST00000381196.4	-	25	3536	c.2993C>A	c.(2992-2994)aCg>aAg	p.T998K	PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.T985K|PTPRD_ENST00000358503.5_Missense_Mutation_p.T976K|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.T998K|PTPRD_ENST00000356435.5_Missense_Mutation_p.T998K	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	998	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCCTTTGCTCGTATGAGCACG	0.498										TSP Lung(15;0.13)																											p.T998K		.											.	PTPRD-912	0			c.C2993A						.						107.0	93.0	97.0					9																	8485824		2203	4300	6503	SO:0001583	missense	5789	exon28			TTGCTCGTATGAG	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2993C>A	9.37:g.8485824G>T	ENSP00000370593:p.Thr998Lys	159	1		185	23	NM_002839	0	0	0	0	0	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382455	0.82792	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35	5.38	5.38	0.77491	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80639	0.4661	H	0.94808	3.585	0.80722	D	1	D;D;B	0.67145	0.996;0.984;0.203	D;P;B	0.66716	0.946;0.823;0.33	D	0.85953	0.1465	9	.	.	.	.	19.4956	0.95070	0.0:0.0:1.0:0.0	.	985;998;998	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	K	998;998;985;976;998	ENSP00000370593:T998K;ENSP00000348812:T998K;ENSP00000353187:T985K;ENSP00000351293:T976K;ENSP00000438164:T998K	.	T	-	2	0	PTPRD	8475824	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.693000	0.91896	0.655000	0.94253	ACG	.		0.498	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		
IARS	3376	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	94985663	94985663	+	Missense_Mutation	SNP	T	T	C	rs560795216		TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr9:94985663T>C	ENST00000375643.3	-	32	3784	c.3518A>G	c.(3517-3519)tAt>tGt	p.Y1173C	IARS_ENST00000443024.2_Missense_Mutation_p.Y1173C|IARS_ENST00000375629.3_3'UTR|IARS_ENST00000447699.2_Missense_Mutation_p.Y1063C	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	1173					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	TAGGTTGATATACTGACAAAG	0.458													T|||	1	0.000199681	0.0008	0.0	5008	,	,		17559	0.0		0.0	False		,,,				2504	0.0				p.Y1173C		.											.	IARS-92	0			c.A3518G						.						138.0	126.0	130.0					9																	94985663		2203	4300	6503	SO:0001583	missense	3376	exon32			TTGATATACTGAC	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.3518A>G	9.37:g.94985663T>C	ENSP00000364794:p.Tyr1173Cys	131	0		152	67	NM_013417	0	0	7	11	4	A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	T	17.93	3.508526	0.64410	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000543028;ENST00000447699;ENST00000375660;ENST00000421189	T;T;T	0.72615	-0.67;-0.67;-0.67	5.86	3.41	0.39046	.	0.161726	0.56097	D	0.000023	T	0.77110	0.4082	M	0.61703	1.905	0.19945	N	0.999941	D;D;D	0.89917	1.0;0.97;0.963	D;P;P	0.65573	0.936;0.619;0.512	T	0.66329	-0.5951	10	0.72032	D	0.01	-15.7686	6.5523	0.22442	0.1379:0.0774:0.0:0.7846	.	683;1173;966	F5H1M4;P41252;Q6P0M4	.;SYIC_HUMAN;.	C	1173;1173;182;1063;1173;182	ENSP00000364794:Y1173C;ENSP00000406448:Y1173C;ENSP00000415020:Y1063C	ENSP00000364794:Y1173C	Y	-	2	0	IARS	94025484	0.997000	0.39634	0.020000	0.16555	0.282000	0.26991	3.656000	0.54467	1.163000	0.42636	0.528000	0.53228	TAT	.		0.458	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161	
SEC61B	10952	hgsc.bcm.edu	37	9	101983912	101983912	+	5'Flank	SNP	A	A	C			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr9:101983912A>C	ENST00000223641.4	+	0	0				SEC61B_ENST00000498603.1_5'Flank|ALG2_ENST00000319033.6_5'Flank|ALG2_ENST00000476832.1_Missense_Mutation_p.C89G	NM_006808.2	NP_006799.1	P60468	SC61B_HUMAN	Sec61 beta subunit						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|gene expression (GO:0010467)|protein import into nucleus, translocation (GO:0000060)|retrograde protein transport, ER to cytosol (GO:0030970)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum Sec complex (GO:0031205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	epidermal growth factor binding (GO:0048408)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			kidney(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(62;0.0559)				ACGTAGGCGCAGAcggcggcg	0.731																																					p.C89G		.											.	ALG2-92	0			c.T265G						.						4.0	4.0	4.0					9																	101983912		1758	3411	5169	SO:0001631	upstream_gene_variant	85365	exon1			AGGCGCAGACGGC	L25085	CCDS6741.1	9q22.32-q31.3	2009-03-19			ENSG00000106803	ENSG00000106803			16993	protein-coding gene	gene with protein product		609214				8107851, 10212142	Standard	NM_006808		Approved		uc004azh.3	P60468	OTTHUMG00000020354		9.37:g.101983912A>C	Exception_encountered	3	0		14	14	NM_033087	0	0	0	1	1	P38390|P38391|Q6IBC1	Missense_Mutation	SNP	ENST00000223641.4	37	CCDS6741.1	.	.	.	.	.	.	.	.	.	.	A	29.2	4.986706	0.93106	.	.	ENSG00000119523	ENST00000476832	T	0.77229	-1.08	4.66	4.66	0.58398	.	0.098809	0.85682	D	0.000000	D	0.90038	0.6889	M	0.94101	3.495	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90454	0.4441	10	0.30078	T	0.28	-15.5742	14.2621	0.66092	1.0:0.0:0.0:0.0	.	89	Q9H553	ALG2_HUMAN	G	89	ENSP00000417764:C89G	ENSP00000417764:C89G	C	-	1	0	ALG2	101023733	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	7.844000	0.86867	1.969000	0.57287	0.533000	0.62120	TGC	.		0.731	SEC61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053391.1	NM_006808	
FPGS	2356	hgsc.bcm.edu	37	9	130565267	130565267	+	Missense_Mutation	SNP	A	A	G	rs11554717|rs10760502	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr9:130565267A>G	ENST00000373247.2	+	1	114	c.64A>G	c.(64-66)Ata>Gta	p.I22V	FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373225.3_5'Flank|FPGS_ENST00000393706.2_Missense_Mutation_p.I22V|FPGS_ENST00000373245.1_Missense_Mutation_p.I22V	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	22			I -> V (in dbSNP:rs10760502). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7721888}.		brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	TGCGCGCGGCATAACGACCCA	0.761													g|||	3912	0.78115	0.8956	0.6153	5008	,	,		6680	0.9583		0.6352	False		,,,				2504	0.7117				p.I22V		.											.	FPGS-90	0			c.A64G						.		VAL/ILE	2249,281		997,255,13	1.0	3.0	2.0		64	1.8	0.0	9	dbSNP_120	2	3848,1396		1394,1060,168	no	missense	FPGS	NM_004957.4	29	2391,1315,181	GG,GA,AA		26.6209,11.1067,21.5719	benign	22/588	130565267	6097,1677	1265	2622	3887	SO:0001583	missense	2356	exon1			CGCGGCATAACGA		CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.64A>G	9.37:g.130565267A>G	ENSP00000362344:p.Ile22Val	0	0		9	9	NM_004957	0	0	0	0	0	B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Missense_Mutation	SNP	ENST00000373247.2	37	CCDS35148.1	1668	0.7637362637362637	432	0.8780487804878049	215	0.5939226519337016	545	0.9527972027972028	476	0.6279683377308707	g	3.002	-0.205821	0.06180	0.888933	0.733791	ENSG00000136877	ENST00000373247;ENST00000373245;ENST00000393706;ENST00000373228	T;T;T;T	0.29655	3.02;1.56;3.03;1.56	4.93	1.83	0.25207	.	0.868559	0.09918	N	0.738853	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37361	-0.9709	9	0.02654	T	1	-12.2003	6.0757	0.19913	0.2469:0.2097:0.5434:0.0	rs10760502;rs17855899;rs56845445	22;22	Q05932-4;Q05932	.;FOLC_HUMAN	V	22	ENSP00000362344:I22V;ENSP00000362342:I22V;ENSP00000377309:I22V;ENSP00000362325:I22V	ENSP00000362325:I22V	I	+	1	0	FPGS	129605088	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	0.242000	0.18087	0.210000	0.20664	-0.258000	0.10820	ATA	A|0.235;G|0.765		0.761	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1		
ARSD	414	bcgsc.ca	37	X	2836037	2836037	+	Missense_Mutation	SNP	G	G	C	rs211653	byFrequency	TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chrX:2836037G>C	ENST00000381154.1	-	5	746	c.671C>G	c.(670-672)tCt>tGt	p.S224C	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	224			S -> C (in dbSNP:rs211653). {ECO:0000269|PubMed:11177574}.		cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGCGGAGACAGAGAAGAAACC	0.627													g|||	1534	0.406358	0.3396	0.4006	3775	,	,		13839	0.255		0.3489	False		,,,				2504	0.2035				p.S224C		.											.	ARSD-130	0			c.C671G						.	G	CYS/SER	1666,2169		339,779,209,514,362	19.0	23.0	22.0		671	2.5	0.0	X	dbSNP_79	22	3030,3696		560,1221,689,647,1181	no	missense	ARSD	NM_001669.3	112	899,2000,898,1161,1543	CC,CG,C,GG,G		45.0491,43.442,44.4655	benign	224/594	2836037	4696,5865	2203	4298	6501	SO:0001583	missense	414	exon5			GAGACAGAGAAGA	X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"""Arylsulfatase family"""	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.671C>G	X.37:g.2836037G>C	ENSP00000370546:p.Ser224Cys	93	0		76	4	NM_001669	0	0	0	0	0	Q9UHJ8	Missense_Mutation	SNP	ENST00000381154.1	37	CCDS35196.1	680	0.4098854731766124	138	0.3	139	0.4371069182389937	158	0.286231884057971	282	0.4051724137931034	g	9.900	1.206692	0.22205	0.43442	0.450491	ENSG00000006756	ENST00000381154;ENST00000217890	D	0.94000	-3.33	3.47	2.55	0.30701	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.450854	0.20036	U	0.100602	T	0.00012	0.0000	M	0.82923	2.615	0.80722	P	0.0	B;B	0.25206	0.12;0.045	B;B	0.34301	0.179;0.076	T	0.01791	-1.1273	9	0.33940	T	0.23	.	11.8883	0.52615	0.0:0.1742:0.8258:0.0	rs211653;rs17325736;rs56637515;rs211653	224;224	E9PAW5;P51689	.;ARSD_HUMAN	C	224	ENSP00000370546:S224C	ENSP00000217890:S224C	S	-	2	0	ARSD	2846037	0.137000	0.22531	0.012000	0.15200	0.071000	0.16799	3.128000	0.50492	0.342000	0.23796	0.420000	0.28162	TCT	0|0.004;C|0.405		0.627	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1		
ASB11	140456	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	15332559	15332559	+	Intron	SNP	C	C	G			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chrX:15332559C>G	ENST00000480796.1	-	1	232				ASB11_ENST00000380470.3_Intron|ASB11_ENST00000537676.1_Missense_Mutation_p.R17P|ASB11_ENST00000344384.4_Missense_Mutation_p.R17P			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase						intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					CCTTCTGATACGTTCTGAAAC	0.368																																					p.R17P		.											.	ASB11-289	0			c.G50C						.						141.0	125.0	131.0					X																	15332559		2203	4300	6503	SO:0001627	intron_variant	140456	exon1			CTGATACGTTCTG	AF425642	CCDS14164.1, CCDS35209.1, CCDS56596.1	Xp22.31	2014-02-10	2014-02-10		ENSG00000165192	ENSG00000165192		"""Ankyrin repeat domain containing"""	17186	protein-coding gene	gene with protein product		300626	"""ankyrin repeat and SOCS box-containing 11"", ""ankyrin repeat and SOCS box containing 11"""			24337577	Standard	NM_080873		Approved	DKFZp779E2460	uc004cwp.2	Q8WXH4	OTTHUMG00000021173	ENST00000480796.1:c.181+987G>C	X.37:g.15332559C>G		51	0		35	15	NM_001012428	0	0	0	0	0	E9PEN1|Q3SYC4|Q7Z667	Missense_Mutation	SNP	ENST00000480796.1	37	CCDS14164.1	.	.	.	.	.	.	.	.	.	.	C	4.464	0.085999	0.08583	.	.	ENSG00000165192	ENST00000537676;ENST00000344384	T;T	0.68624	-0.34;-0.34	5.84	2.16	0.27623	.	.	.	.	.	T	0.43100	0.1232	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26052	-1.0114	9	0.34782	T	0.22	.	7.7094	0.28669	0.0:0.6617:0.0:0.3383	.	17	E9PEN1	.	P	17	ENSP00000445465:R17P;ENSP00000343408:R17P	ENSP00000343408:R17P	R	-	2	0	ASB11	15242480	0.718000	0.27976	0.091000	0.20842	0.133000	0.20885	0.270000	0.18607	0.249000	0.21456	-0.297000	0.09499	CGT	.		0.368	ASB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055852.2		
DMD	1756	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	X	32407770	32407770	+	Missense_Mutation	SNP	T	T	G			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chrX:32407770T>G	ENST00000357033.4	-	32	4572	c.4366A>C	c.(4366-4368)Atg>Ctg	p.M1456L	DMD_ENST00000378677.2_Missense_Mutation_p.M1452L	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1456	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CGAAACTTCATGGAGACATCT	0.348																																					p.M1456L		.											.	DMD-265	0			c.A4366C						.						92.0	82.0	86.0					X																	32407770		2202	4300	6502	SO:0001583	missense	1756	exon32			ACTTCATGGAGAC	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4366A>C	X.37:g.32407770T>G	ENSP00000354923:p.Met1456Leu	46	0		38	15	NM_004006	0	0	0	0	0	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	T	11.20	1.569609	0.28003	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.18016	2.24;2.24	5.67	-4.8	0.03190	.	0.162267	0.27151	U	0.020690	T	0.08044	0.0201	L	0.36672	1.1	0.45718	D	0.998621	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.20638	-1.0269	10	0.35671	T	0.21	.	0.6601	0.00841	0.1896:0.2215:0.1904:0.3985	.	1448;1456;1452;115;112	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	L	1448;115;112;1452;1456;1456;1333	ENSP00000367948:M1452L;ENSP00000354923:M1456L	ENSP00000354923:M1456L	M	-	1	0	DMD	32317691	0.083000	0.21467	0.966000	0.40874	0.924000	0.55760	0.305000	0.19254	-0.743000	0.04784	-0.321000	0.08615	ATG	.		0.348	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
TCEAL3	85012	broad.mit.edu	37	X	102864220	102864220	+	Silent	SNP	C	C	A			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chrX:102864220C>A	ENST00000372628.1	+	3	586	c.228C>A	c.(226-228)ggC>ggA	p.G76G	TCEAL3_ENST00000243286.3_Silent_p.G76G|TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000372627.5_Silent_p.G76G			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	76					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						AAGGTGAGGGCAAGCCACAAG	0.617																																					p.G76G		.											.	TCEAL3-90	0			c.C228A						.						119.0	101.0	107.0					X																	102864220		2203	4300	6503	SO:0001819	synonymous_variant	85012	exon3			TGAGGGCAAGCCA	BC008703	CCDS14511.1	Xq22.2	2014-03-21			ENSG00000196507	ENSG00000196507			28247	protein-coding gene	gene with protein product						16221301	Standard	NM_032926		Approved	MGC15737, WEX8	uc004ekr.3	Q969E4	OTTHUMG00000022106	ENST00000372628.1:c.228C>A	X.37:g.102864220C>A		75	12		131	22	NM_001006933	0	0	27	28	1	D3DXA4	Silent	SNP	ENST00000372628.1	37	CCDS14511.1																																																																																			.		0.617	TCEAL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057737.1	NM_032926	
MCF2	4168	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	138713564	138713564	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chrX:138713564A>G	ENST00000370576.4	-	3	487	c.278T>C	c.(277-279)aTc>aCc	p.I93T	MCF2_ENST00000370578.4_Missense_Mutation_p.I238T|MCF2_ENST00000536274.1_Intron|MCF2_ENST00000338585.6_Missense_Mutation_p.I93T|MCF2_ENST00000520602.1_Missense_Mutation_p.I153T|MCF2_ENST00000414978.1_Missense_Mutation_p.I153T|MCF2_ENST00000519895.1_Missense_Mutation_p.I153T|MCF2_ENST00000370573.4_Missense_Mutation_p.I93T	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	93					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					ATTTCTGAAGATGATCCATTC	0.388																																					p.I153T		.											.	MCF2-227	0			c.T458C						.						203.0	174.0	184.0					X																	138713564		2203	4300	6503	SO:0001583	missense	4168	exon6			CTGAAGATGATCC		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.278T>C	X.37:g.138713564A>G	ENSP00000359608:p.Ile93Thr	110	0		144	8	NM_001171876	0	0	0	0	0	B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	A	11.11	1.542885	0.27563	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000370578;ENST00000414978;ENST00000519895;ENST00000370573;ENST00000338585	T;T;T;T;T;T;T	0.59638	1.41;0.25;1.4;1.41;1.46;0.25;0.25	5.91	4.75	0.60458	.	0.212795	0.49305	N	0.000143	T	0.43700	0.1259	L	0.38838	1.175	0.32262	N	0.570051	B;B;B;B;B;B	0.14012	0.0;0.009;0.0;0.0;0.006;0.0	B;B;B;B;B;B	0.18871	0.002;0.011;0.005;0.004;0.023;0.002	T	0.46289	-0.9202	10	0.12766	T	0.61	.	9.9827	0.41824	0.9195:0.0:0.0805:0.0	.	153;238;93;238;93;93	E9PH77;B7Z3Z2;P10911-2;Q5JYJ7;P10911-4;P10911	.;.;.;.;.;MCF2_HUMAN	T	153;93;238;153;153;93;93	ENSP00000427745:I153T;ENSP00000359608:I93T;ENSP00000359610:I238T;ENSP00000397055:I153T;ENSP00000430276:I153T;ENSP00000359605:I93T;ENSP00000342204:I93T	ENSP00000342204:I93T	I	-	2	0	MCF2	138541230	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.821000	0.75272	0.846000	0.35142	0.481000	0.45027	ATC	.		0.388	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369	
IL9R	3581	broad.mit.edu	37	X	155239804	155239804	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chrX:155239804C>G	ENST00000244174.5	+	9	1475	c.1296C>G	c.(1294-1296)agC>agG	p.S432R	IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000424344.3_Missense_Mutation_p.S411R	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	432	Poly-Ser.				cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	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)					gcaggagcagcagcagcagca	0.627																																					p.S432R		.											.	IL9R-40	0			c.C1296G						.						17.0	27.0	24.0					X																	155239804		2201	4295	6496	SO:0001583	missense	3581	exon9			GAGCAGCAGCAGC	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.1296C>G	X.37:g.155239804C>G	ENSP00000244174:p.Ser432Arg	108	0		127	4	NM_002186	0	0	0	0	0	B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	c	9.402	1.078258	0.20227	.	.	ENSG00000124334	ENST00000244174;ENST00000424344	T;T	0.10860	2.83;2.83	0.195	0.195	0.15151	.	3.852910	0.00870	N	0.002015	T	0.14356	0.0347	.	.	.	0.09310	N	1	P	0.42518	0.782	P	0.46110	0.504	T	0.20806	-1.0264	8	0.48119	T	0.1	-15.0951	.	.	.	.	432	Q01113	IL9R_HUMAN	R	432;411	ENSP00000244174:S432R;ENSP00000388918:S411R	ENSP00000244174:S432R	S	+	3	2	IL9R	154892998	0.001000	0.12720	0.005000	0.12908	0.005000	0.04900	-0.363000	0.07593	0.283000	0.22279	0.287000	0.19450	AGC	C|1.000;|0.000		0.627	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186	
EVI5L	115704	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	7915003	7915004	+	Frame_Shift_Ins	INS	-	-	T			TCGA-OR-A5L6-01A-11D-A29I-10	TCGA-OR-A5L6-10C-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	d6782167-c280-47be-9306-dd6794cd6c34	f9f463db-8197-4665-b7a3-a2f02f00e992	g.chr19:7915003_7915004insT	ENST00000270530.4	+	6	944_945	c.748_749insT	c.(748-750)ctgfs	p.L250fs	EVI5L_ENST00000538904.2_Frame_Shift_Ins_p.L250fs	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	250	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						CGAGTACATGCTGCAGGTGAGC	0.653																																					p.L250fs		.											.	EVI5L-91	0			c.748_749insT						.																																			SO:0001589	frameshift_variant	115704	exon5			TACATGCTGCAGG	BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.749dupT	19.37:g.7915004_7915004dupT	ENSP00000270530:p.Leu250fs	70	0		88	15	NM_001159944	0	0	0	0	0	B9A6I9	Frame_Shift_Ins	INS	ENST00000270530.4	37	CCDS12188.1																																																																																			.		0.653	EVI5L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461347.1	NM_145245	
