#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
PRDM16	63976	hgsc.bcm.edu	37	1	3329263	3329263	+	Silent	SNP	C	C	T	rs115226069	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr1:3329263C>T	ENST00000270722.5	+	9	2551	c.2502C>T	c.(2500-2502)ggC>ggT	p.G834G	PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Silent_p.G834G|PRDM16_ENST00000511072.1_Silent_p.G835G|PRDM16_ENST00000378398.3_Silent_p.G835G|PRDM16_ENST00000441472.2_Silent_p.G834G|PRDM16_ENST00000378391.2_Silent_p.G834G|PRDM16_ENST00000514189.1_Silent_p.G835G			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	834	Interaction with CTBP1 and CTBP2. {ECO:0000250}.|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GCAAGCTGGGCGCCGGCGAGG	0.716			T	EVI1	"""MDS, AML"""								C|||	269	0.0537141	0.1271	0.013	5008	,	,		11401	0.0089		0.0119	False		,,,				2504	0.0726				p.G834G		.		Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	.	PRDM16-660	0			c.C2502T						.	C	,	303,3017		7,289,1364	5.0	8.0	7.0		2502,2502	-5.2	0.0	1	dbSNP_132	7	113,7173		0,113,3530	no	coding-synonymous,coding-synonymous	PRDM16	NM_022114.3,NM_199454.2	,	7,402,4894	TT,TC,CC		1.5509,9.1265,3.9223	,	834/1277,834/1258	3329263	416,10190	1660	3643	5303	SO:0001819	synonymous_variant	63976	exon9			GCTGGGCGCCGGC	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.2502C>T	1.37:g.3329263C>T		1	0		13	9	NM_022114	0	0	0	0	0	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	ENST00000270722.5	37	CCDS41236.2																																																																																			C|0.969;T|0.031		0.716	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114	
MAD2L2	10459	hgsc.bcm.edu;bcgsc.ca	37	1	11737631	11737631	+	Missense_Mutation	SNP	G	G	T	rs377687352		TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr1:11737631G>T	ENST00000235310.3	-	6	1128	c.200C>A	c.(199-201)aCg>aAg	p.T67K	MAD2L2_ENST00000376667.3_Missense_Mutation_p.T67K|MAD2L2_ENST00000376669.5_Missense_Mutation_p.T67K|MAD2L2_ENST00000376692.4_Missense_Mutation_p.T67K|MAD2L2_ENST00000376672.1_Missense_Mutation_p.T67K			Q9UI95	MD2L2_HUMAN	MAD2 mitotic arrest deficient-like 2 (yeast)	67	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.|Mediates interaction with REV1 and REV3L and homodimerization.				actin filament organization (GO:0007015)|DNA damage response, signal transduction resulting in transcription (GO:0042772)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|zeta DNA polymerase complex (GO:0016035)	JUN kinase binding (GO:0008432)|RNA polymerase II activating transcription factor binding (GO:0001102)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGTGCAGCGTGTCCTGGAT	0.602								DNA polymerases (catalytic subunits)																													p.T67K		.											.	MAD2L2-659	0			c.C200A						.						165.0	156.0	159.0					1																	11737631		2203	4300	6503	SO:0001583	missense	10459	exon4			TGCAGCGTGTCCT	AF139365	CCDS134.1	1p36	2013-01-17	2001-11-28		ENSG00000116670	ENSG00000116670		"""DNA polymerases"""	6764	protein-coding gene	gene with protein product	"""mitotic arrest deficient homolog-like 2"", ""polymerase (DNA-directed), zeta 2, accessory subunit"""	604094	"""MAD2 (mitotic arrest deficient, yeast, homolog)-like 2"""			10366450	Standard	NM_006341		Approved	MAD2B, REV7, POLZ2	uc009vnc.3	Q9UI95	OTTHUMG00000002231	ENST00000235310.3:c.200C>A	1.37:g.11737631G>T	ENSP00000235310:p.Thr67Lys	52	0		60	4	NM_006341	0	0	78	78	0	B3KNE3|Q5TGW7|Q9UNA7|Q9Y6I6	Missense_Mutation	SNP	ENST00000235310.3	37	CCDS134.1	.	.	.	.	.	.	.	.	.	.	G	34	5.353036	0.95830	.	.	ENSG00000116670	ENST00000376692;ENST00000235310;ENST00000376672;ENST00000376669;ENST00000376667;ENST00000445656;ENST00000456915;ENST00000376655	.	.	.	5.71	5.71	0.89125	DNA-binding HORMA (4);	0.000000	0.85682	D	0.000000	T	0.78168	0.4241	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.79022	-0.1973	9	0.72032	D	0.01	-22.5947	18.4056	0.90535	0.0:0.0:1.0:0.0	.	67	Q9UI95	MD2L2_HUMAN	K	67;67;67;67;67;97;67;67	.	ENSP00000235310:T67K	T	-	2	0	MAD2L2	11660218	1.000000	0.71417	0.965000	0.40720	0.955000	0.61496	9.096000	0.94182	2.699000	0.92147	0.555000	0.69702	ACG	.		0.602	MAD2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006344.2	NM_006341	
EPB41	2035	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	29424397	29424397	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr1:29424397G>A	ENST00000343067.4	+	17	2390	c.2263G>A	c.(2263-2265)Gtc>Atc	p.V755I	EPB41_ENST00000349460.4_Missense_Mutation_p.V532I|EPB41_ENST00000373798.1_Missense_Mutation_p.V755I|EPB41_ENST00000373800.3_Missense_Mutation_p.V513I|EPB41_ENST00000460378.1_3'UTR|EPB41_ENST00000398863.2_Intron|EPB41_ENST00000356093.2_Missense_Mutation_p.V722I|EPB41_ENST00000347529.3_Missense_Mutation_p.V666I	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	755	C-terminal (CTD).				actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AACCAAAGACGTCCCTATTGT	0.453																																					p.V755I		.											.	EPB41-91	0			c.G2263A						.						136.0	111.0	120.0					1																	29424397		2203	4300	6503	SO:0001583	missense	2035	exon17			AAAGACGTCCCTA	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.2263G>A	1.37:g.29424397G>A	ENSP00000345259:p.Val755Ile	194	0		126	67	NM_001166005	0	0	5	16	11	B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	ENST00000343067.4	37	CCDS53288.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274342	0.59649	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398861;ENST00000349460;ENST00000373800;ENST00000347529;ENST00000373798	T;T;T;D;T;T	0.85411	-1.13;-1.13;-1.13;-1.98;-1.13;-1.13	5.85	5.85	0.93711	Band 4.1, C-terminal (1);	0.216147	0.38058	N	0.001825	D	0.90992	0.7167	L	0.59967	1.855	0.80722	D	1	B;P;P;P;P;D;P	0.63046	0.344;0.555;0.546;0.6;0.546;0.992;0.653	B;B;B;B;B;D;B	0.67548	0.183;0.183;0.163;0.252;0.163;0.952;0.147	D	0.90867	0.4743	10	0.62326	D	0.03	.	19.1531	0.93496	0.0:0.0:1.0:0.0	.	595;755;722;718;666;513;532	E9PEX0;P11171;P11171-2;Q59F12;P11171-5;P11171-4;P11171-3	.;41_HUMAN;.;.;.;.;.	I	718;755;722;595;532;513;666;755	ENSP00000345259:V755I;ENSP00000348397:V722I;ENSP00000317597:V532I;ENSP00000362906:V513I;ENSP00000290100:V666I;ENSP00000362904:V755I	ENSP00000345259:V755I	V	+	1	0	EPB41	29296984	1.000000	0.71417	0.981000	0.43875	0.961000	0.63080	4.321000	0.59209	2.753000	0.94483	0.655000	0.94253	GTC	.		0.453	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	NM_203342	
HOOK1	51361	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	60299091	60299091	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr1:60299091G>C	ENST00000371208.3	+	5	545	c.288G>C	c.(286-288)caG>caC	p.Q96H	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Missense_Mutation_p.Q54H	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	96	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					TGGGGCAGCAGATTTCAGAAG	0.343																																					p.Q96H		.											.	HOOK1-154	0			c.G288C						.						56.0	59.0	58.0					1																	60299091		2203	4300	6503	SO:0001583	missense	51361	exon5			GCAGCAGATTTCA	AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.288G>C	1.37:g.60299091G>C	ENSP00000360252:p.Gln96His	93	0		81	6	NM_015888	0	0	3	3	0	A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	ENST00000371208.3	37	CCDS612.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.971281	0.34754	.	.	ENSG00000134709	ENST00000455990;ENST00000371208;ENST00000395561	T;T;T	0.19250	2.16;2.16;2.16	5.48	3.6	0.41247	.	0.326830	0.37530	N	0.002059	T	0.16685	0.0401	L	0.37697	1.125	0.40804	D	0.983367	B	0.15141	0.012	B	0.22152	0.038	T	0.04976	-1.0914	10	0.45353	T	0.12	.	8.6216	0.33864	0.0694:0.0:0.6595:0.2711	.	96	Q9UJC3	HOOK1_HUMAN	H	96;96;54	ENSP00000398860:Q96H;ENSP00000360252:Q96H;ENSP00000378928:Q54H	ENSP00000360252:Q96H	Q	+	3	2	HOOK1	60071679	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.525000	0.35953	0.790000	0.33803	0.585000	0.79938	CAG	.		0.343	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888	
WLS	79971	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	68624824	68624824	+	Silent	SNP	G	G	A			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr1:68624824G>A	ENST00000262348.4	-	3	739	c.486C>T	c.(484-486)tgC>tgT	p.C162C	WLS_ENST00000540432.1_Silent_p.C162C|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000354777.2_Silent_p.C160C|WLS_ENST00000370976.3_Silent_p.C71C|GNG12-AS1_ENST00000420587.1_RNA	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	162	Interacts with Wnt proteins. {ECO:0000250}.				anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						ATGTGAAGGTGCATTTGAGTT	0.458																																					p.C162C		.											.	WLS-90	0			c.C486T						.						184.0	147.0	160.0					1																	68624824		2203	4300	6503	SO:0001819	synonymous_variant	79971	exon3			GAAGGTGCATTTG	BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"""wntless homolog"""	611514	"""chromosome 1 open reading frame 139"", ""G protein-coupled receptor 177"", ""wntless homolog (Drosophila)"""	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.486C>T	1.37:g.68624824G>A		176	0		124	58	NM_024911	0	0	56	145	89	B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Silent	SNP	ENST00000262348.4	37	CCDS642.1	.	.	.	.	.	.	.	.	.	.	G	4.004	-0.001988	0.07819	.	.	ENSG00000116729	ENST00000534713	.	.	.	5.94	-2.37	0.06643	.	.	.	.	.	T	0.49423	0.1556	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55995	-0.8052	4	.	.	.	-22.0275	12.7487	0.57296	0.4851:0.0:0.5149:0.0	.	.	.	.	V	65	.	.	A	-	2	0	WLS	68397412	1.000000	0.71417	0.962000	0.40283	0.399000	0.30720	0.629000	0.24538	-0.434000	0.07275	-0.145000	0.13849	GCA	.		0.458	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025368.1	NM_024911	
FLG2	388698	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	152323852	152323852	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr1:152323852C>G	ENST00000388718.5	-	3	6482	c.6410G>C	c.(6409-6411)gGa>gCa	p.G2137A	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2137					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AATGGCAGATCCTGACTCTCC	0.527																																					p.G2137A		.											.	FLG2-151	0			c.G6410C						.						431.0	401.0	411.0					1																	152323852		2203	4300	6503	SO:0001583	missense	388698	exon3			GCAGATCCTGACT	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6410G>C	1.37:g.152323852C>G	ENSP00000373370:p.Gly2137Ala	478	0		405	101	NM_001014342	0	0	0	0	0	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	7.988	0.752641	0.15778	.	.	ENSG00000143520	ENST00000388718	T	0.12984	2.63	4.44	-8.88	0.00789	.	.	.	.	.	T	0.09158	0.0226	M	0.78456	2.415	0.09310	N	1	P	0.52061	0.95	P	0.58013	0.831	T	0.01930	-1.1245	9	0.32370	T	0.25	-0.0016	2.8301	0.05497	0.3004:0.1626:0.3954:0.1417	.	2137	Q5D862	FILA2_HUMAN	A	2137	ENSP00000373370:G2137A	ENSP00000373370:G2137A	G	-	2	0	FLG2	150590476	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-1.407000	0.02488	-2.088000	0.00861	-0.272000	0.10252	GGA	.		0.527	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
IER5	51278	hgsc.bcm.edu	37	1	181058313	181058313	+	Missense_Mutation	SNP	G	G	A	rs3747955	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr1:181058313G>A	ENST00000367577.4	+	1	676	c.275G>A	c.(274-276)cGt>cAt	p.R92H	RP11-309G3.3_ENST00000606938.1_lincRNA	NM_016545.4	NP_057629.2	Q5VY09	IER5_HUMAN	immediate early response 5	92			R -> H (in dbSNP:rs3747955). {ECO:0000269|PubMed:15498874}.							lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	4						cccgccgcTCGTGCCTCTTGG	0.801													G|||	2220	0.443291	0.2489	0.4452	5008	,	,		6443	0.6002		0.3777	False		,,,				2504	0.6104				p.R92H		.											.	IER5-227	0			c.G275A						.	G	HIS/ARG	975,3037		142,691,1173	5.0	6.0	6.0		275	-1.2	0.0	1	dbSNP_107	6	2425,5403		398,1629,1887	no	missense	IER5	NM_016545.4	29	540,2320,3060	AA,AG,GG		30.9785,24.3021,28.7162	benign	92/328	181058313	3400,8440	2006	3914	5920	SO:0001583	missense	51278	exon1			CCGCTCGTGCCTC	BC000128	CCDS1343.1	1q25.3	2008-02-05			ENSG00000162783	ENSG00000162783			5393	protein-coding gene	gene with protein product		607177				10049588, 11102586	Standard	NM_016545		Approved		uc001got.4	Q5VY09	OTTHUMG00000035178	ENST00000367577.4:c.275G>A	1.37:g.181058313G>A	ENSP00000356549:p.Arg92His	0	0		10	8	NM_016545	0	0	3	8	5	B2RBV3|Q8WY68|Q9NY49|Q9NZP9	Missense_Mutation	SNP	ENST00000367577.4	37	CCDS1343.1	943	0.4317765567765568	134	0.27235772357723576	158	0.43646408839779005	358	0.6258741258741258	293	0.3865435356200528	G	2.870	-0.234111	0.05983	0.243021	0.309785	ENSG00000162783	ENST00000367577;ENST00000545568	T	0.10668	2.85	3.62	-1.18	0.09617	.	0.978663	0.08289	U	0.968738	T	0.00012	0.0000	L	0.40543	1.245	0.80722	P	0.0	B	0.15719	0.014	B	0.14578	0.011	T	0.36407	-0.9749	9	0.15066	T	0.55	.	7.4605	0.27291	0.1106:0.5642:0.3252:0.0	rs3747955	92	Q5VY09	IER5_HUMAN	H	92	ENSP00000356549:R92H	ENSP00000356549:R92H	R	+	2	0	IER5	179324936	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.173000	0.16724	-0.337000	0.08426	0.297000	0.19635	CGT	G|0.568;A|0.432		0.801	IER5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085142.1	NM_016545	
HMCN1	83872	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	186147583	186147583	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr1:186147583G>C	ENST00000271588.4	+	104	16208	c.15979G>C	c.(15979-15981)Gca>Cca	p.A5327P	HMCN1_ENST00000367492.2_Intron|GS1-174L6.4_ENST00000428391.1_RNA	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5327	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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						TAAACCTTGTGCACATCAGTG	0.438																																					p.A5327P		.											.	HMCN1-113	0			c.G15979C						.						85.0	87.0	86.0					1																	186147583		2203	4300	6503	SO:0001583	missense	83872	exon104			CCTTGTGCACATC	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.15979G>C	1.37:g.186147583G>C	ENSP00000271588:p.Ala5327Pro	187	0		190	95	NM_031935	0	0	1	1	0	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288108	0.80803	.	.	ENSG00000143341	ENST00000271588	D	0.91792	-2.91	6.07	6.07	0.98685	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.098051	0.64402	D	0.000001	D	0.93419	0.7901	N	0.21583	0.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92515	0.6020	10	0.38643	T	0.18	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	5327	Q96RW7	HMCN1_HUMAN	P	5327	ENSP00000271588:A5327P	ENSP00000271588:A5327P	A	+	1	0	HMCN1	184414206	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.807000	0.99171	2.885000	0.99019	0.655000	0.94253	GCA	.		0.438	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
C1orf106	55765	hgsc.bcm.edu	37	1	200880978	200880978	+	Missense_Mutation	SNP	C	C	T	rs296520	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr1:200880978C>T	ENST00000367342.4	+	9	1812	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	C1orf106_ENST00000413687.2_Missense_Mutation_p.R453C	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	538			R -> C (in dbSNP:rs296520). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.							endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GTGGGAGCTGCGCCGCGCAGC	0.736													T|||	3966	0.791933	0.6089	0.8213	5008	,	,		12017	0.997		0.7256	False		,,,				2504	0.8753				p.R552C		.											.	C1orf106-93	0			c.C1654T						.	T	CYS/ARG,CYS/ARG	2547,1503		890,767,368	5.0	7.0	6.0		1357,1612	0.8	0.0	1	dbSNP_79	6	5587,2355		2124,1339,508	no	missense,missense	C1orf106	NM_001142569.2,NM_018265.3	180,180	3014,2106,876	TT,TC,CC		29.6525,37.1111,32.1714	benign,benign	453/579,538/664	200880978	8134,3858	2025	3971	5996	SO:0001583	missense	55765	exon9			GAGCTGCGCCGCG	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1612C>T	1.37:g.200880978C>T	ENSP00000356311:p.Arg538Cys	0	0		23	23	NM_018265	0	0	0	0	0	B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Missense_Mutation	SNP	ENST00000367342.4	37		1677	0.7678571428571429	261	0.5304878048780488	285	0.787292817679558	569	0.9947552447552448	562	0.741424802110818	T	0.366	-0.936884	0.02340	0.628889	0.703475	ENSG00000163362	ENST00000367342;ENST00000413687	T;T	0.28454	1.61;1.61	3.39	0.759	0.18438	.	0.912041	0.09365	N	0.812206	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	0.16188	-1.0411	9	0.29301	T	0.29	-23.0614	3.796	0.08740	0.0:0.2241:0.1856:0.5903	rs296520;rs7519373;rs56757010	538	Q3KP66	CA106_HUMAN	C	538;453	ENSP00000356311:R538C;ENSP00000392105:R453C	ENSP00000356311:R538C	R	+	1	0	C1orf106	199147601	0.004000	0.15560	0.002000	0.10522	0.007000	0.05969	-0.731000	0.04909	-0.124000	0.11724	-0.381000	0.06696	CGC	C|0.242;T|0.758		0.736	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265	
PRELP	5549	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	203452909	203452909	+	Silent	SNP	C	C	T			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr1:203452909C>T	ENST00000343110.2	+	2	724	c.597C>T	c.(595-597)ctC>ctT	p.L199L		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	199	Poly-Leu.				carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			ACCTGCTGCTCCTGGATCTCC	0.612																																					p.L199L		.											.	PRELP-516	0			c.C597T						.						88.0	93.0	91.0					1																	203452909		2203	4300	6503	SO:0001819	synonymous_variant	5549	exon2			GCTGCTCCTGGAT	BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	9357	protein-coding gene	gene with protein product	"""prolargin proteoglycan"""	601914	"""proline arginine-rich end leucine-rich repeat protein"""				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.597C>T	1.37:g.203452909C>T		89	0		89	41	NM_201348	0	0	2	2	0	Q6FG38	Silent	SNP	ENST00000343110.2	37	CCDS1438.1																																																																																			.		0.612	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	NM_002725	
OBSCN	84033	hgsc.bcm.edu	37	1	228504670	228504670	+	Missense_Mutation	SNP	C	C	T	rs11810627	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr1:228504670C>T	ENST00000422127.1	+	51	13590	c.13546C>T	c.(13546-13548)Cgg>Tgg	p.R4516W	OBSCN_ENST00000366709.4_Missense_Mutation_p.R1635W|OBSCN_ENST00000570156.2_Missense_Mutation_p.R5473W|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2150W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4516W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4516	Ig-like 46.		R -> W (in dbSNP:rs11810627).		apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCCTCTGCGCGGCTCACCGT	0.736													c|||	1654	0.330272	0.2791	0.4006	5008	,	,		13971	0.249		0.4861	False		,,,				2504	0.273				p.R5473W		.											.	OBSCN-403	0			c.C16417T						.		TRP/ARG,TRP/ARG	923,2833		165,593,1120	5.0	6.0	6.0		13546,13546	-1.0	0.0	1	dbSNP_120	6	3333,4245		861,1611,1317	yes	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	101,101	1026,2204,2437	TT,TC,CC		43.9826,24.574,37.5507	probably-damaging,probably-damaging	4516/7969,4516/6621	228504670	4256,7078	1878	3789	5667	SO:0001583	missense	84033	exon62			TCTGCGCGGCTCA	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.13546C>T	1.37:g.228504670C>T	ENSP00000409493:p.Arg4516Trp	0	0		14	9	NM_001271223	0	0	0	0	0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	774	0.3543956043956044	137	0.2784552845528455	144	0.39779005524861877	134	0.23426573426573427	359	0.4736147757255937	c	11.94	1.787178	0.31593	0.24574	0.439826	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.77098	-1.07;-1.07;0.2;0.2	5.41	-0.971	0.10303	Immunoglobulin subtype (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.167607	0.36519	N	0.002550	T	0.00012	0.0000	L	0.41824	1.3	0.50632	P	1.1499999999997623E-4	B;B	0.22541	0.071;0.067	B;B	0.12156	0.007;0.007	T	0.42275	-0.9461	9	0.45353	T	0.12	.	10.3619	0.43998	0.6084:0.317:0.0:0.0747	rs11810627	4516;4516	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	W	4516;4516;2150;1635	ENSP00000284548:R4516W;ENSP00000409493:R4516W;ENSP00000355668:R2150W;ENSP00000355670:R1635W	ENSP00000284548:R4516W	R	+	1	2	OBSCN	226571293	0.968000	0.33430	0.013000	0.15412	0.016000	0.09150	2.032000	0.41127	-0.028000	0.13850	0.550000	0.68814	CGG	C|0.643;T|0.357		0.736	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
TAF5	6877	hgsc.bcm.edu	37	10	105128134	105128134	+	Missense_Mutation	SNP	T	T	G	rs10883859	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr10:105128134T>G	ENST00000369839.3	+	1	411	c.388T>G	c.(388-390)Tcc>Gcc	p.S130A	TAF5_ENST00000351396.4_Missense_Mutation_p.S130A	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	130			S -> A (in dbSNP:rs10883859). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8758937, ECO:0000269|PubMed:9045704, ECO:0000269|Ref.5}.		chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		AGTGGCGGGCTCCGGAGCCCC	0.741													T|||	1553	0.310104	0.1952	0.4078	5008	,	,		9029	0.4206		0.329	False		,,,				2504	0.2628				p.S130A		.											.	TAF5-92	0			c.T388G						.	T	ALA/SER	635,2955		63,509,1223	3.0	5.0	4.0		388	1.9	1.0	10	dbSNP_120	4	2122,5176		327,1468,1854	no	missense	TAF5	NM_006951.3	99	390,1977,3077	GG,GT,TT		29.0765,17.688,25.3215	benign	130/801	105128134	2757,8131	1795	3649	5444	SO:0001583	missense	6877	exon1			GCGGGCTCCGGAG	X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"""WD repeat domain containing"""	11539	protein-coding gene	gene with protein product		601787	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"""	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.388T>G	10.37:g.105128134T>G	ENSP00000358854:p.Ser130Ala	2	0		8	4	NM_006951	0	0	0	0	0	A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Missense_Mutation	SNP	ENST00000369839.3	37	CCDS7547.1	821	0.3759157509157509	127	0.258130081300813	150	0.4143646408839779	277	0.48426573426573427	267	0.35224274406332456	T	12.78	2.040311	0.35989	0.17688	0.290765	ENSG00000148835	ENST00000369839;ENST00000351396	T;T	0.55930	0.73;0.49	4.45	1.88	0.25563	.	0.435426	0.24978	N	0.034100	T	0.00012	0.0000	N	0.04508	-0.205	0.41867	P	0.009742999999999946	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.46373	-0.9196	9	0.09338	T	0.73	-0.0936	6.2404	0.20787	0.1492:0.0:0.2595:0.5913	rs10883859	130;130	Q15542-2;Q15542	.;TAF5_HUMAN	A	130	ENSP00000358854:S130A;ENSP00000311024:S130A	ENSP00000311024:S130A	S	+	1	0	TAF5	105118124	0.988000	0.35896	1.000000	0.80357	0.948000	0.59901	0.932000	0.28884	0.814000	0.34374	0.459000	0.35465	TCC	T|0.623;G|0.377		0.741	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1		
MUC5B	727897	bcgsc.ca	37	11	1266696	1266696	+	Silent	SNP	A	A	C	rs532138150	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr11:1266696A>C	ENST00000529681.1	+	31	8644	c.8586A>C	c.(8584-8586)ccA>ccC	p.P2862P	MUC5B_ENST00000447027.1_Silent_p.P2865P|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2862	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CATCGGCCCCAATAACCACGG	0.692													-|||	1610	0.321486	0.236	0.3386	5008	,	,		9611	0.497		0.2575	False		,,,				2504	0.3098				p.P2862P		.											.	.	0			c.A8586C						.						54.0	65.0	61.0					11																	1266696		1727	3813	5540	SO:0001819	synonymous_variant	727897	exon31			GGCCCCAATAACC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.8586A>C	11.37:g.1266696A>C		234	5		78	39	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																			A|0.500;C|0.500		0.692	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
MUC5B	727897	bcgsc.ca	37	11	1266716	1266716	+	Missense_Mutation	SNP	T	T	C	rs200243273	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr11:1266716T>C	ENST00000529681.1	+	31	8664	c.8606T>C	c.(8605-8607)aTg>aCg	p.M2869T	MUC5B_ENST00000447027.1_Missense_Mutation_p.M2872T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2869	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTGGTGACCATGGGCTGTGAG	0.657													-|||	1477	0.294928	0.2284	0.2752	5008	,	,		10473	0.4812		0.2266	False		,,,				2504	0.2771				p.M2869T		.											.	.	0			c.T8606C						.						43.0	51.0	49.0					11																	1266716		1683	3765	5448	SO:0001583	missense	727897	exon31			TGACCATGGGCTG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.8606T>C	11.37:g.1266716T>C	ENSP00000436812:p.Met2869Thr	257	4		81	27	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	-	1.479	-0.557829	0.03967	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.15718	2.4;2.59	1.67	-1.74	0.08056	.	.	.	.	.	T	0.05686	0.0149	N	0.02539	-0.55	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29882	-0.9997	8	0.87932	D	0	.	3.4419	0.07466	0.1749:0.468:0.0:0.3571	rs2860626;rs2943499;rs2943524;rs3965637	3452;2872	A7Y9J9;E9PBJ0	.;.	T	2869;2872;2841;2829	ENSP00000436812:M2869T;ENSP00000415793:M2872T	ENSP00000343037:M2841T	M	+	2	0	MUC5B	1223292	0.003000	0.15002	0.000000	0.03702	0.007000	0.05969	0.117000	0.15583	-1.035000	0.03291	-0.471000	0.05019	ATG	C|1.000;|0.000		0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
OR51B2	79345	bcgsc.ca	37	11	5344681	5344681	+	Missense_Mutation	SNP	G	G	A	rs11036815	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr11:5344681G>A	ENST00000328813.2	-	1	901	c.847C>T	c.(847-849)Cct>Tct	p.P283S	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	283			P -> S (in dbSNP:rs11036815).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCATTAAAGGAGGAAAGAGG	0.373													G|||	1326	0.264776	0.2897	0.2954	5008	,	,		21267	0.2173		0.2853	False		,,,				2504	0.2372				p.P283S		.											.	OR51B2-71	0			c.C847T						.	G	SER/PRO	1323,3079	443.3+/-347.0	190,943,1068	113.0	106.0	108.0		847	4.4	0.8	11	dbSNP_120	108	2469,6125	405.5+/-348.5	336,1797,2164	yes	missense	OR51B2	NM_033180.4	74	526,2740,3232	AA,AG,GG		28.7293,30.0545,29.1782	probably-damaging	283/313	5344681	3792,9204	2201	4297	6498	SO:0001583	missense	79345	exon1			TTAAAGGAGGAAA	AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"""GPCR / Class A : Olfactory receptors"""	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.847C>T	11.37:g.5344681G>A	ENSP00000327540:p.Pro283Ser	289	1		136	8	NM_033180	0	0	0	0	0	Q96RD4	Missense_Mutation	SNP	ENST00000328813.2	37	CCDS31377.1	578	0.26465201465201466	159	0.3231707317073171	102	0.281767955801105	116	0.20279720279720279	201	0.26517150395778366	G	21.5	4.162103	0.78226	0.300545	0.287293	ENSG00000184881	ENST00000328813	T	0.00330	8.08	4.38	4.38	0.52667	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38272	U	0.001747	T	0.00012	0.0000	M	0.89214	3.015	0.26462	P	0.9754303	D	0.89917	1.0	D	0.97110	1.0	T	0.60712	-0.7209	9	0.72032	D	0.01	.	15.8595	0.79012	0.0:0.0:1.0:0.0	rs11036815;rs52816306;rs60406440;rs11036815	283	Q9Y5P1	O51B2_HUMAN	S	283	ENSP00000327540:P283S	ENSP00000327540:P283S	P	-	1	0	OR51B2	5301257	0.997000	0.39634	0.805000	0.32314	0.987000	0.75469	2.460000	0.45031	2.306000	0.77630	0.638000	0.83543	CCT	G|0.719;A|0.281		0.373	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180	
CCDC88B	283234	hgsc.bcm.edu	37	11	64116890	64116890	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr11:64116890C>A	ENST00000356786.5	+	15	2748	c.2704C>A	c.(2704-2706)Cgc>Agc	p.R902S	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.R54S|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	902						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCTCTCGAGCGCCAGGAATT	0.642																																					p.R902S		.											.	CCDC88B-94	0			c.C2704A						.						22.0	26.0	25.0					11																	64116890		2201	4297	6498	SO:0001583	missense	283234	exon15			CTCGAGCGCCAGG	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.2704C>A	11.37:g.64116890C>A	ENSP00000349238:p.Arg902Ser	60	0		72	4	NM_032251	0	0	4	4	0	A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	c	15.57	2.871311	0.51695	.	.	ENSG00000168071	ENST00000377638;ENST00000356786;ENST00000359902	T;T	0.55234	1.68;0.53	3.68	2.75	0.32379	.	.	.	.	.	T	0.60971	0.2310	M	0.61703	1.905	0.80722	D	1	P;D;P;P	0.67145	0.954;0.996;0.761;0.954	P;D;B;P	0.63381	0.573;0.914;0.34;0.573	T	0.61038	-0.7143	9	0.49607	T	0.09	.	6.1537	0.20326	0.0:0.8624:0.0:0.1376	.	902;38;551;902	B2RTU8;A6NC98-5;A6NC98-3;A6NC98	.;.;.;CC88B_HUMAN	S	902;902;54	ENSP00000349238:R902S;ENSP00000352974:R54S	ENSP00000349238:R902S	R	+	1	0	CCDC88B	63873466	0.663000	0.27448	0.874000	0.34290	0.405000	0.30901	0.749000	0.26320	2.031000	0.59945	0.539000	0.68188	CGC	.		0.642	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251	
CST6	1474	hgsc.bcm.edu	37	11	65779590	65779590	+	Silent	SNP	C	C	T	rs1131544	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr11:65779590C>T	ENST00000312134.2	+	1	279	c.75C>T	c.(73-75)gaC>gaT	p.D25D		NM_001323.3	NP_001314.1	Q15828	CYTM_HUMAN	cystatin E/M	25					anatomical structure morphogenesis (GO:0009653)|epidermis development (GO:0008544)|negative regulation of endopeptidase activity (GO:0010951)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			large_intestine(1)|lung(1)|ovary(1)	3						TGCCACGCGACGCCCGGGCCC	0.746													C|||	356	0.0710863	0.0219	0.0922	5008	,	,		12347	0.001		0.162	False		,,,				2504	0.1012				p.D25D		.											.	CST6-523	0			c.C75T						.	C		164,3936		5,154,1891	5.0	6.0	5.0		75	-4.6	0.0	11	dbSNP_86	5	1227,6867		88,1051,2908	no	coding-synonymous	CST6	NM_001323.3		93,1205,4799	TT,TC,CC		15.1594,4.0,11.4072		25/150	65779590	1391,10803	2050	4047	6097	SO:0001819	synonymous_variant	1474	exon1			ACGCGACGCCCGG	U62800	CCDS8126.1	11q13	2005-09-29			ENSG00000175315	ENSG00000175315			2478	protein-coding gene	gene with protein product		601891				9154125, 9099741	Standard	NM_001323		Approved		uc001ogr.3	Q15828	OTTHUMG00000166750	ENST00000312134.2:c.75C>T	11.37:g.65779590C>T		0	0		7	5	NM_001323	0	0	0	0	0	Q540N7	Silent	SNP	ENST00000312134.2	37	CCDS8126.1																																																																																			C|0.921;T|0.079		0.746	CST6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391348.1	NM_001323	
ADRBK1	156	broad.mit.edu;ucsc.edu	37	11	67046987	67046987	+	Silent	SNP	G	G	A	rs112675049	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr11:67046987G>A	ENST00000308595.5	+	4	653	c.363G>A	c.(361-363)tcG>tcA	p.S121S	ADRBK1_ENST00000526285.1_Silent_p.S121S	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	121	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TGGCCTGCTCGCATGTGAGTG	0.587																																					p.S121S		.											.	ADRBK1-521	0			c.G363A						.	G		0,4398		0,0,2199	62.0	54.0	57.0		363	-10.8	0.1	11	dbSNP_132	57	2,8588	2.2+/-6.3	0,2,4293	no	coding-synonymous	ADRBK1	NM_001619.3		0,2,6492	AA,AG,GG		0.0233,0.0,0.0154		121/690	67046987	2,12986	2199	4295	6494	SO:0001819	synonymous_variant	156	exon4			CTGCTCGCATGTG	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.363G>A	11.37:g.67046987G>A		81	1		84	9	NM_001619	0	0	0	0	0	B0ZBE1|Q13837|Q6GTT3	Silent	SNP	ENST00000308595.5	37	CCDS8156.1																																																																																			G|1.000;A|0.000		0.587	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619	
FGF19	9965	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	69514323	69514323	+	Missense_Mutation	SNP	A	A	C			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr11:69514323A>C	ENST00000294312.3	-	3	1123	c.358T>G	c.(358-360)Tgt>Ggt	p.C120G		NM_005117.2	NP_005108.1	O95750	FGF19_HUMAN	fibroblast growth factor 19	120					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bile acid biosynthetic process (GO:0070858)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glucose import (GO:0046326)|positive regulation of JNK cascade (GO:0046330)	extracellular region (GO:0005576)	fibroblast growth factor receptor binding (GO:0005104)			large_intestine(2)|lung(2)|skin(2)	6	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			TCGAAAGCACAGTCTTCCTCC	0.572																																					p.C120G		.											.	FGF19-658	0			c.T358G						.						44.0	41.0	42.0					11																	69514323		2200	4294	6494	SO:0001583	missense	9965	exon3			AAGCACAGTCTTC	AB018122	CCDS8193.1	11q13.1	2008-02-01			ENSG00000162344	ENSG00000162344			3675	protein-coding gene	gene with protein product		603891				9931477, 10525310	Standard	NM_005117		Approved		uc001opf.3	O95750	OTTHUMG00000167886	ENST00000294312.3:c.358T>G	11.37:g.69514323A>C	ENSP00000294312:p.Cys120Gly	103	0		114	11	NM_005117	0	0	0	0	0		Missense_Mutation	SNP	ENST00000294312.3	37	CCDS8193.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.302605	0.81136	.	.	ENSG00000162344	ENST00000294312	D	0.96830	-4.14	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.98314	0.9441	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99497	1.0952	10	0.87932	D	0	-14.254	14.5105	0.67784	1.0:0.0:0.0:0.0	.	120	O95750	FGF19_HUMAN	G	120	ENSP00000294312:C120G	ENSP00000294312:C120G	C	-	1	0	FGF19	69223504	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	6.400000	0.73252	1.840000	0.53500	0.454000	0.30748	TGT	.		0.572	FGF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396833.1	NM_005117	
ARHGEF17	9828	hgsc.bcm.edu	37	11	73020058	73020058	+	Silent	SNP	C	C	T	rs12272360	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr11:73020058C>T	ENST00000263674.3	+	1	725	c.375C>T	c.(373-375)agC>agT	p.S125S	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	125					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CCTGGCCCAGCGTCACCGAGA	0.736													c|||	455	0.0908546	0.2141	0.062	5008	,	,		11497	0.002		0.0964	False		,,,				2504	0.0307				p.S125S		.											.	ARHGEF17-227	0			c.C375T						.		,	414,2368		29,356,1006	3.0	2.0	3.0		375,333	2.8	1.0	11	dbSNP_120	3	395,5105		17,361,2372	no	coding-synonymous,coding-synonymous	ARHGEF17,LOC100287837	NM_014786.3,XM_002343116.2	,	46,717,3378	TT,TC,CC		7.1818,14.8814,9.7682	,	125/2064,111/450	73020058	809,7473	1391	2750	4141	SO:0001819	synonymous_variant	9828	exon1			GCCCAGCGTCACC	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.375C>T	11.37:g.73020058C>T		2	0		5	5	NM_014786	0	0	0	1	1	B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	37	CCDS8221.1																																																																																			C|0.906;T|0.094		0.736	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786	
DLG2	1740	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	84245704	84245704	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr11:84245704C>A	ENST00000532653.1	-	2	415	c.113G>T	c.(112-114)gGc>gTc	p.G38V	DLG2_ENST00000376104.2_Missense_Mutation_p.G143V|DLG2_ENST00000543673.1_Missense_Mutation_p.G143V|DLG2_ENST00000398309.2_Missense_Mutation_p.G38V|DLG2_ENST00000524982.1_Missense_Mutation_p.G38V			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GAGTTCTGGGCCTCTTACTTC	0.408																																					p.G143V		.											.	DLG2-96	0			c.G428T						.						187.0	175.0	179.0					11																	84245704		1872	4117	5989	SO:0001583	missense	1740	exon7			TCTGGGCCTCTTA	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.113G>T	11.37:g.84245704C>A	ENSP00000435849:p.Gly38Val	192	0		210	38	NM_001142699	0	0	0	0	0	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37		.	.	.	.	.	.	.	.	.	.	C	24.1	4.494812	0.85069	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000543673;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000527088	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	5.88	5.88	0.94601	Membrane-associated guanylate kinase (MAGUK), PEST domain, N-terminal (1);	0.113010	0.35207	N	0.003361	T	0.47173	0.1431	L	0.48642	1.525	0.80722	D	1	B;B;P;B	0.36909	0.149;0.436;0.573;0.003	B;B;B;B	0.43155	0.098;0.41;0.23;0.006	T	0.17961	-1.0352	9	.	.	.	.	20.2279	0.98344	0.0:1.0:0.0:0.0	.	38;38;143;38	B7Z2T4;E9PN83;Q15700-2;Q15700	.;.;.;DLG2_HUMAN	V	38;143;143;38;38;143;59	ENSP00000381355:G38V;ENSP00000365272:G143V;ENSP00000441994:G143V;ENSP00000432894:G38V;ENSP00000435849:G38V;ENSP00000435809:G59V	.	G	-	2	0	DLG2	83923352	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.411000	0.59781	2.778000	0.95560	0.655000	0.94253	GGC	.		0.408	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364	
KMT2A	4297	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	118368752	118368752	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr11:118368752G>C	ENST00000389506.5	+	21	5757	c.5757G>C	c.(5755-5757)aaG>aaC	p.K1919N	KMT2A_ENST00000534358.1_Missense_Mutation_p.K1922N|KMT2A_ENST00000354520.4_Missense_Mutation_p.K1881N			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1919					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GATCACTAAAGAATGTGCATA	0.413																																					p.K1922N		.											.	MLL-1255	0			c.G5766C						.						161.0	147.0	152.0					11																	118368752		2200	4296	6496	SO:0001583	missense	4297	exon21			ACTAAAGAATGTG	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.5757G>C	11.37:g.118368752G>C	ENSP00000374157:p.Lys1919Asn	153	0		162	33	NM_001197104	0	0	1	1	0	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.736820	0.49045	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	T;T;T	0.71341	-0.56;-0.56;-0.56	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.79650	0.4482	L	0.54323	1.7	0.58432	D	0.999996	D;D	0.89917	0.988;1.0	P;D	0.87578	0.906;0.998	T	0.80504	-0.1353	10	0.72032	D	0.01	.	11.4479	0.50134	0.0908:0.0:0.9092:0.0	.	1922;1919	E9PQG7;Q03164	.;MLL1_HUMAN	N	1922;1919;1881;829	ENSP00000436786:K1922N;ENSP00000374157:K1919N;ENSP00000346516:K1881N	ENSP00000346516:K1881N	K	+	3	2	MLL	117873962	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.330000	0.43885	2.655000	0.90218	0.655000	0.94253	AAG	.		0.413	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933	
PLEKHG6	55200	broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	6426579	6426579	+	Splice_Site	SNP	G	G	A			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr12:6426579G>A	ENST00000396988.3	+	8	1097	c.867G>A	c.(865-867)caG>caA	p.Q289Q	PLEKHG6_ENST00000304581.8_5'Flank|PLEKHG6_ENST00000011684.7_Splice_Site_p.Q289Q|PLEKHG6_ENST00000449001.2_Splice_Site_p.Q257Q|PLEKHG6_ENST00000536531.1_Splice_Site_p.Q289Q	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	289	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						CCTTCGTGCAGGTGGGAGAAG	0.612																																					p.Q289Q		.											.	PLEKHG6-295	0			c.G867A						.						77.0	65.0	69.0					12																	6426579		2203	4300	6503	SO:0001630	splice_region_variant	55200	exon8			CGTGCAGGTGGGA	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"""Pleckstrin homology (PH) domain containing"""	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.867+1G>A	12.37:g.6426579G>A		104	1		118	30	NM_001144856	0	0	0	0	0	Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Silent	SNP	ENST00000396988.3	37	CCDS8541.1																																																																																			.		0.612	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173	Silent
PLEKHG6	55200	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	6426809	6426809	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr12:6426809G>A	ENST00000396988.3	+	9	1194	c.964G>A	c.(964-966)Gct>Act	p.A322T	PLEKHG6_ENST00000304581.8_5'Flank|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.A322T|PLEKHG6_ENST00000449001.2_Missense_Mutation_p.A290T|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.A322T	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	322	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GCTGCTCCATGCTGTGCTCAA	0.612																																					p.A322T		.											.	PLEKHG6-295	0			c.G964A						.						56.0	51.0	53.0					12																	6426809		2203	4300	6503	SO:0001583	missense	55200	exon9			CTCCATGCTGTGC	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"""Pleckstrin homology (PH) domain containing"""	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.964G>A	12.37:g.6426809G>A	ENSP00000380185:p.Ala322Thr	61	0		94	19	NM_001144856	0	0	0	0	0	Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	ENST00000396988.3	37	CCDS8541.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197259	0.79015	.	.	ENSG00000008323	ENST00000011684;ENST00000536531;ENST00000396988;ENST00000449001	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	4.88	4.88	0.63580	Dbl homology (DH) domain (5);	0.076523	0.50627	D	0.000117	T	0.76241	0.3960	L	0.58669	1.825	0.80722	D	1	D;D;D	0.71674	0.985;0.985;0.998	D;D;D	0.72338	0.924;0.918;0.977	T	0.72404	-0.4304	10	0.26408	T	0.33	-12.7296	13.4115	0.60946	0.0:0.0:1.0:0.0	.	290;322;322	Q3KR16-2;F5H731;Q3KR16	.;.;PKHG6_HUMAN	T	322;322;322;290	ENSP00000011684:A322T;ENSP00000442836:A322T;ENSP00000380185:A322T;ENSP00000393194:A290T	ENSP00000011684:A322T	A	+	1	0	PLEKHG6	6297070	0.991000	0.36638	1.000000	0.80357	0.895000	0.52256	2.235000	0.43044	2.533000	0.85409	0.313000	0.20887	GCT	.		0.612	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173	
PLEKHG6	55200	broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	6427086	6427086	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr12:6427086G>A	ENST00000396988.3	+	10	1311	c.1081G>A	c.(1081-1083)Gag>Aag	p.E361K	PLEKHG6_ENST00000304581.8_5'Flank|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.E361K|PLEKHG6_ENST00000449001.2_Missense_Mutation_p.E329K|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.E361K	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	361						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						CGAAGAGCAAGAGAGCTTGGC	0.627																																					p.E361K		.											.	PLEKHG6-295	0			c.G1081A						.						35.0	33.0	33.0					12																	6427086		2195	4292	6487	SO:0001583	missense	55200	exon10			GAGCAAGAGAGCT	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"""Pleckstrin homology (PH) domain containing"""	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.1081G>A	12.37:g.6427086G>A	ENSP00000380185:p.Glu361Lys	269	2		358	85	NM_001144856	0	0	0	0	0	Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	ENST00000396988.3	37	CCDS8541.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.677906	0.47886	.	.	ENSG00000008323	ENST00000011684;ENST00000536531;ENST00000396988;ENST00000449001	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	4.67	4.67	0.58626	Dbl homology (DH) domain (1);	0.528439	0.18812	N	0.130462	T	0.65995	0.2745	M	0.71581	2.175	0.58432	D	0.999999	B;P;P	0.38922	0.292;0.516;0.651	B;B;B	0.38755	0.187;0.281;0.118	T	0.67799	-0.5577	10	0.40728	T	0.16	-10.3738	12.9541	0.58416	0.0:0.0:1.0:0.0	.	329;361;361	Q3KR16-2;F5H731;Q3KR16	.;.;PKHG6_HUMAN	K	361;361;361;329	ENSP00000011684:E361K;ENSP00000442836:E361K;ENSP00000380185:E361K;ENSP00000393194:E329K	ENSP00000011684:E361K	E	+	1	0	PLEKHG6	6297347	1.000000	0.71417	0.247000	0.24249	0.690000	0.40134	4.012000	0.57131	2.423000	0.82170	0.313000	0.20887	GAG	.		0.627	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173	
PLEKHG6	55200	broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	6427101	6427101	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr12:6427101G>A	ENST00000396988.3	+	10	1326	c.1096G>A	c.(1096-1098)Gca>Aca	p.A366T	PLEKHG6_ENST00000304581.8_5'Flank|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.A366T|PLEKHG6_ENST00000449001.2_Missense_Mutation_p.A334T|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.A366T	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	366	Poly-Ala.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						CTTGGCGGCTGCAGCACAACG	0.612																																					p.A366T		.											.	PLEKHG6-295	0			c.G1096A						.						34.0	33.0	34.0					12																	6427101		2197	4286	6483	SO:0001583	missense	55200	exon10			GCGGCTGCAGCAC	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"""Pleckstrin homology (PH) domain containing"""	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.1096G>A	12.37:g.6427101G>A	ENSP00000380185:p.Ala366Thr	279	2		343	84	NM_001144856	0	0	0	0	0	Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	ENST00000396988.3	37	CCDS8541.1	.	.	.	.	.	.	.	.	.	.	G	9.291	1.050724	0.19827	.	.	ENSG00000008323	ENST00000011684;ENST00000536531;ENST00000396988;ENST00000449001	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	4.8	2.98	0.34508	Dbl homology (DH) domain (1);	0.322809	0.29424	N	0.012182	T	0.53769	0.1817	L	0.45581	1.43	0.09310	N	0.999999	B;B;B	0.32245	0.046;0.1;0.361	B;B;B	0.28139	0.067;0.067;0.086	T	0.49133	-0.8971	10	0.52906	T	0.07	-5.107	7.1927	0.25834	0.2001:0.0:0.7999:0.0	.	334;366;366	Q3KR16-2;F5H731;Q3KR16	.;.;PKHG6_HUMAN	T	366;366;366;334	ENSP00000011684:A366T;ENSP00000442836:A366T;ENSP00000380185:A366T;ENSP00000393194:A334T	ENSP00000011684:A366T	A	+	1	0	PLEKHG6	6297362	0.004000	0.15560	0.001000	0.08648	0.405000	0.30901	1.132000	0.31418	0.636000	0.30508	0.462000	0.41574	GCA	.		0.612	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173	
PLEKHG6	55200	broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	6427146	6427146	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr12:6427146G>A	ENST00000396988.3	+	10	1371	c.1141G>A	c.(1141-1143)Gat>Aat	p.D381N	PLEKHG6_ENST00000304581.8_5'Flank|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.D381N|PLEKHG6_ENST00000449001.2_Missense_Mutation_p.D349N|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.D381N	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	381						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GCCACCCAGTGATGAGGTGGA	0.627																																					p.D381N		.											.	PLEKHG6-295	0			c.G1141A						.						37.0	39.0	38.0					12																	6427146		2200	4297	6497	SO:0001583	missense	55200	exon10			CCCAGTGATGAGG	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"""Pleckstrin homology (PH) domain containing"""	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.1141G>A	12.37:g.6427146G>A	ENSP00000380185:p.Asp381Asn	266	1		283	68	NM_001144856	0	0	0	0	0	Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	ENST00000396988.3	37	CCDS8541.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.662790	0.47572	.	.	ENSG00000008323	ENST00000011684;ENST00000536531;ENST00000396988;ENST00000449001	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	4.8	4.8	0.61643	Pleckstrin homology-type (1);	0.214888	0.37530	N	0.002053	T	0.68696	0.3029	L	0.49126	1.545	0.80722	D	1	P;P;B	0.52577	0.921;0.954;0.361	P;P;B	0.58454	0.777;0.839;0.075	T	0.65730	-0.6097	10	0.33141	T	0.24	-0.394	13.2345	0.59961	0.0:0.0:1.0:0.0	.	349;381;381	Q3KR16-2;F5H731;Q3KR16	.;.;PKHG6_HUMAN	N	381;381;381;349	ENSP00000011684:D381N;ENSP00000442836:D381N;ENSP00000380185:D381N;ENSP00000393194:D349N	ENSP00000011684:D381N	D	+	1	0	PLEKHG6	6297407	1.000000	0.71417	0.916000	0.36221	0.293000	0.27360	7.470000	0.80973	2.487000	0.83934	0.462000	0.41574	GAT	.		0.627	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173	
SCNN1A	6337	ucsc.edu;bcgsc.ca	37	12	6464989	6464989	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr12:6464989C>G	ENST00000228916.2	-	5	1031	c.933G>C	c.(931-933)aaG>aaC	p.K311N	SCNN1A_ENST00000540037.1_Missense_Mutation_p.K11N|SCNN1A_ENST00000538979.1_5'UTR|SCNN1A_ENST00000360168.3_Missense_Mutation_p.K370N|SCNN1A_ENST00000358945.3_Missense_Mutation_p.K311N|SCNN1A_ENST00000543768.1_Missense_Mutation_p.K334N|SCNN1A_ENST00000396966.2_Missense_Mutation_p.K311N	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	311					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	TGGAGTTGTTCTTGTCATTGA	0.493																																					p.K370N		.											.	SCNN1A-90	0			c.G1110C						.						264.0	236.0	245.0					12																	6464989		2203	4300	6503	SO:0001583	missense	6337	exon4			GTTGTTCTTGTCA	Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10599	protein-coding gene	gene with protein product		600228	"""sodium channel, nonvoltage-gated 1 alpha"", ""sodium channel, non-voltage-gated 1 alpha"""	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.933G>C	12.37:g.6464989C>G	ENSP00000228916:p.Lys311Asn	308	2		417	125	NM_001159576	0	0	9	10	1	A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	ENST00000228916.2	37	CCDS8543.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179170	0.57800	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000540037;ENST00000228916;ENST00000396966;ENST00000543768	T;T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01;0.01	4.88	4.88	0.63580	.	0.708209	0.13527	N	0.381225	T	0.59197	0.2176	L	0.41573	1.285	0.32190	N	0.579199	P;P;P	0.44344	0.833;0.695;0.692	P;P;B	0.49140	0.601;0.516;0.366	T	0.59332	-0.7474	10	0.22706	T	0.39	-26.0577	9.5413	0.39252	0.0:0.9039:0.0:0.0961	.	334;311;370	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	N	370;311;11;311;311;334	ENSP00000353292:K370N;ENSP00000351825:K311N;ENSP00000440876:K11N;ENSP00000228916:K311N;ENSP00000380166:K311N;ENSP00000438739:K334N	ENSP00000228916:K311N	K	-	3	2	SCNN1A	6335250	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.161000	0.31773	2.423000	0.82170	0.561000	0.74099	AAG	.		0.493	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1		
SSPN	8082	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	26377283	26377283	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr12:26377283G>A	ENST00000242729.2	+	2	514	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	RP11-283G6.4_ENST00000540392.1_RNA|SSPN_ENST00000422622.2_Missense_Mutation_p.E10K|SSPN_ENST00000535504.1_Missense_Mutation_p.E113K|SSPN_ENST00000540266.1_Missense_Mutation_p.E10K	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN	sarcospan	113					cell adhesion (GO:0007155)|muscle contraction (GO:0006936)	cell junction (GO:0030054)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)				kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					TCAGGTTGACGAACGGACATG	0.383																																					p.E113K		.											.	SSPN-90	0			c.G337A						.						380.0	352.0	361.0					12																	26377283		2203	4300	6503	SO:0001583	missense	8082	exon2			GTTGACGAACGGA	AF016028	CCDS8707.1, CCDS44850.1	12p11.2	2014-09-17	2012-03-14			ENSG00000123096			11322	protein-coding gene	gene with protein product		601599	"""Kras oncogene-associated gene"""	KRAG		9395445, 8661122	Standard	NM_005086		Approved	SPN1, SPN2	uc001rhe.3	Q14714		ENST00000242729.2:c.337G>A	12.37:g.26377283G>A	ENSP00000242729:p.Glu113Lys	196	1		350	62	NM_005086	0	0	2	5	3	B3KS67	Missense_Mutation	SNP	ENST00000242729.2	37	CCDS8707.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763562	0.89932	.	.	ENSG00000123096	ENST00000538142;ENST00000540266;ENST00000422622;ENST00000242729;ENST00000441067;ENST00000535504	T;T;T;T	0.57595	0.39;0.92;0.92;4.43	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.70710	0.3255	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.68356	-0.5430	10	0.36615	T	0.2	-8.6132	17.4061	0.87474	0.0:0.0:1.0:0.0	.	113;113	F5H0K2;Q14714	.;SSPN_HUMAN	K	10;10;10;113;87;113	ENSP00000445360:E10K;ENSP00000442893:E10K;ENSP00000396087:E10K;ENSP00000242729:E113K	ENSP00000242729:E113K	E	+	1	0	SSPN	26268550	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	7.308000	0.78929	2.614000	0.88457	0.655000	0.94253	GAA	.		0.383	SSPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402654.2	NM_005086	
KIAA1551	55196	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	32135056	32135056	+	Silent	SNP	A	A	G			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr12:32135056A>G	ENST00000312561.4	+	4	1581	c.1167A>G	c.(1165-1167)gcA>gcG	p.A389A	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	389																	CAAGTGTTGCAAAAGAAAAGC	0.328																																					p.A389A		.											.	.	0			c.A1167G						.						77.0	88.0	84.0					12																	32135056		2203	4300	6503	SO:0001819	synonymous_variant	55196	exon4			TGTTGCAAAAGAA	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.1167A>G	12.37:g.32135056A>G		128	0		255	111	NM_018169	0	0	3	3	0	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Silent	SNP	ENST00000312561.4	37	CCDS8725.2																																																																																			.		0.328	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169	
APOF	319	broad.mit.edu	37	12	56755866	56755866	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr12:56755866G>C	ENST00000398189.3	-	2	201	c.124C>G	c.(124-126)Cag>Gag	p.Q42E	STAT2_ENST00000418572.2_5'Flank|APOF_ENST00000541105.1_Missense_Mutation_p.Q24E|STAT2_ENST00000314128.4_5'Flank|STAT2_ENST00000557235.1_5'Flank	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN	apolipoprotein F	42					cholesterol efflux (GO:0033344)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|high-density lipoprotein particle (GO:0034364)|low-density lipoprotein particle (GO:0034362)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)|receptor binding (GO:0005102)			breast(1)|lung(3)|prostate(1)|stomach(1)	6						ACATTTGTCTGCTTTCCATAT	0.522																																					p.Q42E		.											.	.	0			c.C124G						.						109.0	112.0	111.0					12																	56755866		2111	4228	6339	SO:0001583	missense	319	exon2			TTGTCTGCTTTCC	L27050	CCDS44923.1	12q13	2013-01-24				ENSG00000175336		"""Apolipoproteins"""	615	protein-coding gene	gene with protein product		107760				8093033	Standard	NM_001638		Approved		uc001sle.1	Q13790		ENST00000398189.3:c.124C>G	12.37:g.56755866G>C	ENSP00000381250:p.Gln42Glu	220	0		553	13	NM_001638	0	0	0	0	0	Q8TC13	Missense_Mutation	SNP	ENST00000398189.3	37	CCDS44923.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.317950	0.23994	.	.	ENSG00000175336	ENST00000398189;ENST00000541105	T;T	0.48522	0.81;0.81	4.33	2.45	0.29901	.	1.103520	0.07182	N	0.854299	T	0.39332	0.1074	L	0.46157	1.445	0.09310	N	1	B	0.31817	0.341	B	0.32762	0.152	T	0.30208	-0.9986	10	0.23891	T	0.37	-1.3783	5.9021	0.18972	0.1056:0.204:0.6905:0.0	.	42	Q13790	APOF_HUMAN	E	42;24	ENSP00000381250:Q42E;ENSP00000440997:Q24E	ENSP00000381250:Q42E	Q	-	1	0	APOF	55042133	0.001000	0.12720	0.129000	0.21949	0.139000	0.21198	0.200000	0.17257	0.745000	0.32763	0.650000	0.86243	CAG	.		0.522	APOF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410076.1		
PTPRQ	374462	broad.mit.edu	37	12	80936082	80936082	+	Silent	SNP	C	C	T	rs11114503	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr12:80936082C>T	ENST00000266688.5	+	27	3648	c.3648C>T	c.(3646-3648)gcC>gcT	p.A1216A				Q9UMZ3	PTPRQ_HUMAN	protein tyrosine phosphatase, receptor type, Q	1262	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of fat cell differentiation (GO:0045598)	integral component of membrane (GO:0016021)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(7)|kidney(9)|lung(2)|prostate(1)|skin(2)|stomach(2)	24						TTTTTGCTGCCGCAAGAACTA	0.333													T|||	1993	0.397963	0.7988	0.3069	5008	,	,		15962	0.2192		0.2783	False		,,,				2504	0.228				p.A1048A		.											.	.	0			c.C3144T						.	T		982,402		347,288,57	62.0	53.0	56.0		3206	-2.7	1.0	12	dbSNP_120	56	878,2302		135,608,847	no	coding-synonymous	PTPRQ	NM_001145026.1		482,896,904	TT,TC,CC		27.6101,29.0462,40.7537		1220/2300	80936082	1860,2704	692	1590	2282	SO:0001819	synonymous_variant	374462	exon19			TGCTGCCGCAAGA	AF169351	CCDS73501.1	12q21.31	2013-02-11	2001-12-04		ENSG00000139304	ENSG00000139304		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9679	protein-coding gene	gene with protein product		603317	"""deafness, autosomal recessive 84"""	DFNB84		20346435	Standard	NM_001145026		Approved		uc001sze.2	Q9UMZ3	OTTHUMG00000170171	ENST00000266688.5:c.3648C>T	12.37:g.80936082C>T		135	2		126	6	NM_001145026	0	0	0	0	0		Silent	SNP	ENST00000266688.5	37		839	0.3841575091575092	375	0.7621951219512195	132	0.36464088397790057	135	0.23601398601398602	197	0.2598944591029024	T	7.971	0.749000	0.15710	0.709538	0.276101	ENSG00000139304	ENST00000532722	.	.	.	5.59	-2.67	0.06059	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999797	.	.	.	.	.	.	T	0.32929	-0.9888	3	.	.	.	.	1.3022	0.02081	0.1985:0.2312:0.1025:0.4678	rs11114503;rs17713244;rs59001378;rs11114503	.	.	.	L	917	.	.	P	+	2	0	PTPRQ	79460213	0.997000	0.39634	0.989000	0.46669	0.981000	0.71138	0.137000	0.15995	-0.504000	0.06577	-1.120000	0.02017	CCG	C|0.585;T|0.415		0.333	PTPRQ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001145026	
SLC5A8	160728	broad.mit.edu	37	12	101584302	101584302	+	Silent	SNP	G	G	A			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr12:101584302G>A	ENST00000536262.2	-	6	1335	c.777C>T	c.(775-777)gtC>gtT	p.V259V		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GGGATTGGTTGACACCGTAGA	0.393																																					p.V259V	GBM(60;420 1056 13605 22380 47675)	.											.	SLC5A8-90	0			c.C777T						.						150.0	144.0	146.0					12																	101584302		2203	4300	6503	SO:0001819	synonymous_variant	160728	exon6			TTGGTTGACACCG	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.777C>T	12.37:g.101584302G>A		184	0		209	6	NM_145913	0	0	0	0	0		Silent	SNP	ENST00000536262.2	37	CCDS9080.1																																																																																			.		0.393	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913	
CHPT1	56994	broad.mit.edu	37	12	102091784	102091784	+	Missense_Mutation	SNP	T	T	G			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr12:102091784T>G	ENST00000229266.3	+	1	380	c.145T>G	c.(145-147)Tac>Gac	p.Y49D	CHPT1_ENST00000549872.1_Missense_Mutation_p.Y49D|CHPT1_ENST00000550385.1_Intron	NM_020244.2	NP_064629.2	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	49					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	diacylglycerol binding (GO:0019992)|diacylglycerol cholinephosphotransferase activity (GO:0004142)|metal ion binding (GO:0046872)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GCTGCAGCTCTACTGGACCTG	0.706																																					p.Y49D		.											.	CHPT1-90	0			c.T145G						.						19.0	14.0	15.0					12																	102091784		2195	4281	6476	SO:0001583	missense	56994	exon1			CAGCTCTACTGGA		CCDS9086.1	12q	2010-07-08				ENSG00000111666	2.7.8.2		17852	protein-coding gene	gene with protein product	"""phosphatidylcholine synthesizing enzyme"""					10893425	Standard	NM_020244		Approved	CPT1	uc001tin.3	Q8WUD6		ENST00000229266.3:c.145T>G	12.37:g.102091784T>G	ENSP00000229266:p.Tyr49Asp	24	0		17	4	NM_020244	0	0	23	34	11	B3KQM2|Q7Z7H0|Q7Z7H1|Q7Z7H2|Q8IWQ4|Q8IWQ5|Q8WYI4|Q9NRQ6|Q9NRQ7|Q9Y6M6	Missense_Mutation	SNP	ENST00000229266.3	37	CCDS9086.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.488320	0.84854	.	.	ENSG00000111666	ENST00000229266;ENST00000549872	T;T	0.49720	0.77;0.78	3.77	3.77	0.43336	.	0.216636	0.40728	N	0.001033	T	0.60483	0.2272	M	0.67700	2.07	0.53688	D	0.999971	P;D	0.56746	0.757;0.977	P;P	0.58266	0.599;0.836	T	0.65903	-0.6055	10	0.87932	D	0	-17.4985	12.3778	0.55289	0.0:0.0:0.0:1.0	.	49;49	F8W1B3;Q8WUD6	.;CHPT1_HUMAN	D	49	ENSP00000229266:Y49D;ENSP00000448766:Y49D	ENSP00000229266:Y49D	Y	+	1	0	CHPT1	100615915	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.344000	0.72991	1.573000	0.49748	0.392000	0.25879	TAC	.		0.706	CHPT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409173.1	NM_020244	
CORO1C	23603	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	109055859	109055862	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	TCTT	TCTT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr12:109055859_109055862delTCTT	ENST00000261401.3	-	4	563_566	c.391_394delAAGA	c.(391-396)aagagafs	p.KR131fs	CORO1C_ENST00000549772.1_Frame_Shift_Del_p.KR137fs|CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000541050.1_Frame_Shift_Del_p.KR131fs|CORO1C_ENST00000421578.2_Frame_Shift_Del_p.KR26fs|CORO1C_ENST00000420959.2_Frame_Shift_Del_p.KR184fs	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	131					actin cytoskeleton organization (GO:0030036)|phagocytosis (GO:0006909)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						ATGCCGACTCTCTTTGAGTGGCCT	0.534																																					p.131_132del		.											.	CORO1C-228	0			c.391_394del						.																																			SO:0001589	frameshift_variant	23603	exon4			CGACTCTCTTTGA	BC002342	CCDS9120.1, CCDS61236.1	12q24.1	2013-01-10	2001-11-28			ENSG00000110880		"""Coronins"", ""WD repeat domain containing"""	2254	protein-coding gene	gene with protein product		605269	"""coronin, actin-binding protein, 1C"""			9778037, 10461187	Standard	NM_014325		Approved	coronin-3, HCRNN4	uc009zva.4	Q9ULV4		ENST00000261401.3:c.391_394delAAGA	12.37:g.109055859_109055862delTCTT	ENSP00000261401:p.Lys131fs	183	0		155	32	NM_014325	0	0	0	0	0	A7MAP0|A7MAP1|B3KU12|Q9NSK5	Frame_Shift_Del	DEL	ENST00000261401.3	37	CCDS9120.1																																																																																			.		0.534	CORO1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403802.1	NM_014325	
C12orf65	91574	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	123741386	123741386	+	Missense_Mutation	SNP	G	G	T	rs573747271	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr12:123741386G>T	ENST00000253233.1	+	3	953	c.309G>T	c.(307-309)caG>caT	p.Q103H	RP11-282O18.3_ENST00000541002.3_RNA|RP11-282O18.3_ENST00000542427.2_RNA|C12orf65_ENST00000429587.2_Missense_Mutation_p.Q103H|RP11-282O18.3_ENST00000543217.2_RNA|C12orf65_ENST00000366329.2_Missense_Mutation_p.Q103H|RP11-282O18.3_ENST00000544890.1_RNA	NM_152269.4	NP_689482.1	Q9H3J6	CL065_HUMAN	chromosome 12 open reading frame 65	103	GGQ domain. {ECO:0000250}.				cell death (GO:0008219)	mitochondrion (GO:0005739)	translation release factor activity (GO:0003747)			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000595)|Epithelial(86;0.00199)		CAGTTGATCAGAACAGAAAGC	0.373																																					p.Q103H		.											.	C12orf65-90	0			c.G309T						.						55.0	58.0	57.0					12																	123741386		2203	4300	6503	SO:0001583	missense	91574	exon3			TGATCAGAACAGA	AK095982	CCDS9244.1	12q24.31	2013-01-07			ENSG00000130921	ENSG00000130921			26784	protein-coding gene	gene with protein product		613541				20598281, 22688947, 23188110	Standard	NM_152269		Approved	FLJ38663, SPG55	uc001uen.3	Q9H3J6	OTTHUMG00000168852	ENST00000253233.1:c.309G>T	12.37:g.123741386G>T	ENSP00000253233:p.Gln103His	134	0		206	30	NM_001194995	0	0	35	44	9	Q8WUC6	Missense_Mutation	SNP	ENST00000253233.1	37	CCDS9244.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407725	0.42715	.	.	ENSG00000130921	ENST00000253233;ENST00000366329;ENST00000543139;ENST00000429587	T;T;T;T	0.13089	2.62;2.62;2.62;2.62	5.86	-8.63	0.00878	Peptide chain release factor class I/class II (1);	0.435148	0.27345	N	0.019788	T	0.16811	0.0404	M	0.85197	2.74	0.23773	N	0.996887	B	0.21452	0.056	B	0.24269	0.052	T	0.16630	-1.0396	10	0.87932	D	0	-8.9987	13.744	0.62863	0.237:0.1078:0.6552:0.0	.	103	Q9H3J6	CL065_HUMAN	H	103	ENSP00000253233:Q103H;ENSP00000390647:Q103H;ENSP00000444843:Q103H;ENSP00000391513:Q103H	ENSP00000253233:Q103H	Q	+	3	2	C12orf65	122307339	0.035000	0.19736	0.323000	0.25347	0.988000	0.76386	-0.454000	0.06770	-1.694000	0.01425	-0.313000	0.08912	CAG	.		0.373	C12orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401375.1	NM_152269	
MICU2	221154	hgsc.bcm.edu	37	13	22178258	22178258	+	Silent	SNP	C	C	T	rs9509812	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr13:22178258C>T	ENST00000382374.4	-	1	95	c.30G>A	c.(28-30)cgG>cgA	p.R10R		NM_152726.2	NP_689939.1	Q8IYU8	MICU2_HUMAN	mitochondrial calcium uptake 2	10	Ala-rich.				mitochondrial calcium ion transport (GO:0006851)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	calcium channel complex (GO:0034704)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										AGGCCGCCACCCGCGCGCAGC	0.751													C|||	455	0.0908546	0.0113	0.1441	5008	,	,		12694	0.002		0.2545	False		,,,				2504	0.0838				p.R10R		.											.	EFHA1-90	0			c.G30A						.	C		108,3144		5,98,1523	3.0	3.0	3.0		30	-1.6	0.0	13	dbSNP_119	3	1216,5514		95,1026,2244	no	coding-synonymous	EFHA1	NM_152726.2		100,1124,3767	TT,TC,CC		18.0684,3.321,13.2639		10/435	22178258	1324,8658	1626	3365	4991	SO:0001819	synonymous_variant	221154	exon1			CGCCACCCGCGCG	AK091907	CCDS9297.1	13q12.11	2013-03-13	2013-03-13	2013-03-13	ENSG00000165487	ENSG00000165487		"""EF-hand domain containing"""	31830	protein-coding gene	gene with protein product		610632	"""EF hand domain family A1"", ""EF-hand domain family, member A1"""	EFHA1		23409044	Standard	NM_152726		Approved		uc001uof.3	Q8IYU8	OTTHUMG00000067414	ENST00000382374.4:c.30G>A	13.37:g.22178258C>T		0	0		12	6	NM_152726	0	0	2	21	19	Q8N0T6|Q8NAX8	Silent	SNP	ENST00000382374.4	37	CCDS9297.1																																																																																			C|0.873;T|0.127		0.751	MICU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144355.1	NM_152726	
ATP7B	540	bcgsc.ca	37	13	52544805	52544805	+	Missense_Mutation	SNP	C	C	G	rs1801244	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr13:52544805C>G	ENST00000242839.4	-	3	1522	c.1366G>C	c.(1366-1368)Gtg>Ctg	p.V456L	ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000418097.2_Missense_Mutation_p.V456L|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000344297.5_Missense_Mutation_p.V456L|ATP7B_ENST00000542656.1_Missense_Mutation_p.V424L|ATP7B_ENST00000400366.3_Missense_Mutation_p.V345L|ATP7B_ENST00000448424.2_Missense_Mutation_p.V456L	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	456			V -> L (in dbSNP:rs1801244). {ECO:0000269|PubMed:10721669, ECO:0000269|PubMed:10790207, ECO:0000269|PubMed:11690702, ECO:0000269|PubMed:14986826, ECO:0000269|PubMed:15952988, ECO:0000269|PubMed:15967699, ECO:0000269|PubMed:18373411, ECO:0000269|PubMed:9887381, ECO:0000269|Ref.2}.		cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ACTTCCTGCACAGATGTAGGT	0.512									Wilson disease				C|||	1888	0.376997	0.1868	0.389	5008	,	,		18719	0.4841		0.5258	False		,,,				2504	0.362				p.V456L		.											.	ATP7B-92	0			c.G1366C						.	C	LEU/VAL,LEU/VAL	887,3065		90,707,1179	126.0	121.0	123.0		1366,1366	-0.2	0.0	13	dbSNP_89	123	4068,4208		1013,2042,1083	yes	missense,missense	ATP7B	NM_000053.3,NM_001005918.2	32,32	1103,2749,2262	GG,GC,CC		49.1542,22.4443,40.5218	benign,benign	456/1466,456/1259	52544805	4955,7273	1976	4138	6114	SO:0001583	missense	540	exon3	Familial Cancer Database		CCTGCACAGATGT	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.1366G>C	13.37:g.52544805C>G	ENSP00000242839:p.Val456Leu	117	0		102	7	NM_000053	0	0	0	0	0	Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	CCDS41892.1	907	0.4152930402930403	99	0.20121951219512196	152	0.4198895027624309	264	0.46153846153846156	392	0.5171503957783641	C	11.11	1.543605	0.27563	0.224443	0.491542	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000418097;ENST00000542656	D;D;D;D;D;D	0.96168	-3.8;-3.8;-3.93;-3.74;-3.82;-1.94	5.17	-0.181	0.13291	.	0.905138	0.09744	N	0.761497	T	0.00012	0.0000	N	0.24115	0.695	0.80722	P	0.0	B;B;B;B;B;B;B	0.20164	0.009;0.004;0.0;0.023;0.003;0.042;0.001	B;B;B;B;B;B;B	0.22386	0.02;0.009;0.0;0.039;0.018;0.032;0.002	T	0.28073	-1.0055	9	0.09843	T	0.71	-10.9119	2.1644	0.03833	0.1161:0.3756:0.2808:0.2275	rs1801244;rs3742287;rs17401228;rs52819705;rs58218043;rs1801244	424;456;456;456;345;456;456	F6XIH0;E7ET55;B7ZLR4;F5H748;P35670-3;P35670-2;P35670	.;.;.;.;.;.;ATP7B_HUMAN	L	456;345;456;456;456;424	ENSP00000242839:V456L;ENSP00000383217:V345L;ENSP00000342559:V456L;ENSP00000416738:V456L;ENSP00000393343:V456L;ENSP00000443128:V424L	ENSP00000242839:V456L	V	-	1	0	ATP7B	51442806	0.000000	0.05858	0.001000	0.08648	0.631000	0.37964	-1.004000	0.03678	0.214000	0.20742	0.655000	0.94253	GTG	C|0.518;G|0.482		0.512	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053	
CEP128	145508	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	81259323	81259323	+	Silent	SNP	C	C	A			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr14:81259323C>A	ENST00000555265.1	-	14	1716	c.1341G>T	c.(1339-1341)ctG>ctT	p.L447L	CEP128_ENST00000281129.3_Silent_p.L447L			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	447						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CATGGCGAGTCAGCTCTGAGA	0.542																																					p.L447L		.											.	CEP128-91	0			c.G1341T						.						170.0	149.0	156.0					14																	81259323		2203	4300	6503	SO:0001819	synonymous_variant	145508	exon13			GCGAGTCAGCTCT	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.1341G>T	14.37:g.81259323C>A		203	1		157	29	NM_152446	0	0	0	0	0	B9EK52|Q86X97|Q96ML4	Silent	SNP	ENST00000555265.1	37	CCDS32130.1																																																																																			.		0.542	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446	
DYNC1H1	1778	broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	102463457	102463457	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr14:102463457A>T	ENST00000360184.4	+	16	3814	c.3650A>T	c.(3649-3651)gAg>gTg	p.E1217V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1217	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATCGAGGGAGAGTGGGGAGCC	0.512																																					p.E1217V		.											.	DYNC1H1-98	0			c.A3650T						.						64.0	60.0	61.0					14																	102463457		2203	4300	6503	SO:0001583	missense	1778	exon16			AGGGAGAGTGGGG	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.3650A>T	14.37:g.102463457A>T	ENSP00000348965:p.Glu1217Val	280	2		214	55	NM_001376	0	0	10	10	0	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	A	34	5.311251	0.95655	.	.	ENSG00000197102	ENST00000360184	T	0.55052	0.54	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.78304	0.4262	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82464	-0.0444	10	0.62326	D	0.03	.	16.5724	0.84622	1.0:0.0:0.0:0.0	.	1217	Q14204	DYHC1_HUMAN	V	1217	ENSP00000348965:E1217V	ENSP00000348965:E1217V	E	+	2	0	DYNC1H1	101533210	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.276000	0.95745	2.313000	0.78055	0.455000	0.32223	GAG	.		0.512	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	
KIF26A	26153	hgsc.bcm.edu	37	14	104644099	104644099	+	Silent	SNP	T	T	C	rs2497297	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr14:104644099T>C	ENST00000423312.2	+	12	4974	c.4974T>C	c.(4972-4974)agT>agC	p.S1658S	KIF26A_ENST00000315264.7_Silent_p.S1519S	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1658					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GTGGCAGCAGTGGCTATGAGA	0.711													C|||	2031	0.405551	0.5764	0.2911	5008	,	,		13449	0.3185		0.3718	False		,,,				2504	0.3804				p.S1658S		.											.	KIF26A-24	0			c.T4974C						.	C		1381,1865		360,661,602	3.0	4.0	4.0		4974	-0.8	1.0	14	dbSNP_100	4	2221,5011		464,1293,1859	no	coding-synonymous	KIF26A	NM_015656.1		824,1954,2461	CC,CT,TT		30.7107,42.5447,34.3768		1658/1883	104644099	3602,6876	1623	3616	5239	SO:0001819	synonymous_variant	26153	exon12			CAGCAGTGGCTAT	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.4974T>C	14.37:g.104644099T>C		0	0		13	13	NM_015656	0	0	0	0	0	Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	CCDS45171.1																																																																																			T|0.603;C|0.397		0.711	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1		
AHNAK2	113146	hgsc.bcm.edu;broad.mit.edu	37	14	105416541	105416541	+	Missense_Mutation	SNP	C	C	A	rs201377031		TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr14:105416541C>A	ENST00000333244.5	-	7	5366	c.5247G>T	c.(5245-5247)ttG>ttT	p.L1749F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1749						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.L1749F(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGGCATCTTCAAACTGGGCA	0.652																																					p.L1749F		.											.	AHNAK2-47	1	Substitution - Missense(1)	lung(1)	c.G5247T						.						92.0	104.0	101.0					14																	105416541		1812	4039	5851	SO:0001583	missense	113146	exon7			CATCTTCAAACTG	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5247G>T	14.37:g.105416541C>A	ENSP00000353114:p.Leu1749Phe	82	0		113	6	NM_138420	0	0	0	0	0	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	0.011	-1.703848	0.00719	.	.	ENSG00000185567	ENST00000333244	T	0.00588	6.37	4.47	-4.96	0.03038	.	.	.	.	.	T	0.00300	0.0009	N	0.02357	-0.585	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.41627	-0.9498	9	0.12766	T	0.61	-3.6873	12.8761	0.57991	0.0:0.4713:0.3441:0.1846	.	1749	Q8IVF2	AHNK2_HUMAN	F	1749	ENSP00000353114:L1749F	ENSP00000353114:L1749F	L	-	3	2	AHNAK2	104487586	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.736000	0.00801	-0.839000	0.04212	-3.508000	0.00033	TTG	.		0.652	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
CHRFAM7A	89832	broad.mit.edu;bcgsc.ca	37	15	30659708	30659708	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr15:30659708C>G	ENST00000299847.2	-	9	1086	c.633G>C	c.(631-633)atG>atC	p.M211I	CHRFAM7A_ENST00000397827.3_Missense_Mutation_p.M120I|CHRFAM7A_ENST00000401522.3_Missense_Mutation_p.M120I	NM_139320.1	NP_647536.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	211						integral component of membrane (GO:0016021)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CCACGATGATCATGGTGCTGG	0.622																																					p.M211I		.											.	CHRFAM7A-45	0			c.G633C						.						123.0	102.0	109.0					15																	30659708		2190	4288	6478	SO:0001583	missense	89832	exon9			GATGATCATGGTG	AF029838	CCDS32184.1, CCDS42008.1	15q13.2	2013-04-24	2006-02-01		ENSG00000166664	ENSG00000166664			15781	protein-coding gene	gene with protein product		609756				11829490	Standard	NM_139320		Approved	D-10, CHRNA7-DR1	uc001zdt.1	Q494W8	OTTHUMG00000175645	ENST00000299847.2:c.633G>C	15.37:g.30659708C>G	ENSP00000299847:p.Met211Ile	1656	0		2136	79	NM_139320	0	0	4	4	0	A8KAB9	Missense_Mutation	SNP	ENST00000299847.2	37	CCDS32184.1	.	.	.	.	.	.	.	.	.	.	.	23.3	4.401449	0.83120	.	.	ENSG00000166664	ENST00000299847;ENST00000397827;ENST00000401522	D;D;D	0.87571	-2.27;-2.27;-2.27	3.23	3.23	0.37069	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.89976	0.6871	M	0.74647	2.275	0.80722	D	1	P	0.52061	0.95	P	0.53760	0.734	D	0.91118	0.4927	10	0.87932	D	0	.	12.3474	0.55128	0.0:1.0:0.0:0.0	.	211	Q494W8	CRFM7_HUMAN	I	211;120;120	ENSP00000299847:M211I;ENSP00000380927:M120I;ENSP00000385389:M120I	ENSP00000299847:M211I	M	-	3	0	CHRFAM7A	28447000	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.232000	0.78116	1.535000	0.49220	0.398000	0.26397	ATG	.		0.622	CHRFAM7A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430700.1	NM_148911	
KBTBD13	390594	hgsc.bcm.edu	37	15	65369947	65369947	+	Missense_Mutation	SNP	G	G	A	rs146917406	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr15:65369947G>A	ENST00000432196.2	+	1	794	c.794G>A	c.(793-795)gGc>gAc	p.G265D	RASL12_ENST00000434605.2_5'Flank	NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	265					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(1)|prostate(1)|skin(1)	3						GCCATCGGCGGCGAATTCCAG	0.731													g|||	20	0.00399361	0.0008	0.0058	5008	,	,		12084	0.0		0.0089	False		,,,				2504	0.0061				p.G265D		.											.	.	0			c.G794A						.		ASP/GLY	7,3503		0,7,1748	4.0	6.0	6.0		794	5.3	1.0	15	dbSNP_134	6	101,7689		0,101,3794	yes	missense	KBTBD13	NM_001101362.2	94	0,108,5542	AA,AG,GG		1.2965,0.1994,0.9558	probably-damaging	265/459	65369947	108,11192	1755	3895	5650	SO:0001583	missense	390594	exon1			TCGGCGGCGAATT		CCDS45281.1	15q22.31	2014-09-17			ENSG00000234438	ENSG00000234438		"""BTB/POZ domain containing"""	37227	protein-coding gene	gene with protein product	"""nemaline myopathy type 6"""	613727				21109227, 22542517	Standard	NM_001101362		Approved	hCG_1645727, NEM6	uc010uis.2	C9JR72		ENST00000432196.2:c.794G>A	15.37:g.65369947G>A	ENSP00000388723:p.Gly265Asp	2	0		27	11	NM_001101362	0	0	0	0	0		Missense_Mutation	SNP	ENST00000432196.2	37	CCDS45281.1	18	0.008241758241758242	7	0.014227642276422764	3	0.008287292817679558	0	0.0	8	0.010554089709762533	g	20.9	4.061646	0.76187	0.001994	0.012965	ENSG00000234438	ENST00000432196	D	0.99494	-6.01	5.28	5.28	0.74379	Kelch-type beta propeller (1);	.	.	.	.	D	0.99554	0.9840	H	0.95328	3.655	0.52501	D	0.999954	D	0.89917	1.0	D	0.97110	1.0	D	0.95058	0.8193	9	0.87932	D	0	.	18.5255	0.90971	0.0:0.0:1.0:0.0	.	265	C9JR72	KBTBD_HUMAN	D	265	ENSP00000388723:G265D	ENSP00000388723:G265D	G	+	2	0	KBTBD13	63157000	1.000000	0.71417	0.997000	0.53966	0.304000	0.27724	9.522000	0.98032	2.456000	0.83038	0.651000	0.88453	GGC	G|0.992;A|0.008		0.731	KBTBD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418468.2	NM_001101362	
GOLGA6D	653643	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	15	75586797	75586797	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr15:75586797C>A	ENST00000434739.3	+	18	2104	c.2063C>A	c.(2062-2064)cCt>cAt	p.P688H	RN7SL327P_ENST00000488659.2_RNA	NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN	golgin A6 family, member D	688						Golgi apparatus (GO:0005794)				kidney(1)|lung(1)	2						CAGCTGTCTCCTGTCATGCAG	0.572																																					p.P688H		.											.	.	0			c.C2063A						.						19.0	28.0	25.0					15																	75586797		647	1578	2225	SO:0001583	missense	653643	exon18			TGTCTCCTGTCAT		CCDS45308.1	15q24.2	2013-05-10	2010-02-12	2009-09-04	ENSG00000140478	ENSG00000140478			32204	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6D"""				Standard	NM_001145224		Approved		uc010uma.2	P0CG33	OTTHUMG00000172672	ENST00000434739.3:c.2063C>A	15.37:g.75586797C>A	ENSP00000391085:p.Pro688His	206	0		327	58	NM_001145224	0	0	0	0	0		Missense_Mutation	SNP	ENST00000434739.3	37	CCDS45308.1	.	.	.	.	.	.	.	.	.	.	C	3.826	-0.036771	0.07497	.	.	ENSG00000140478	ENST00000434739	T	0.20332	2.08	1.56	-2.35	0.06684	.	.	.	.	.	T	0.31199	0.0789	L	0.49571	1.57	0.24034	N	0.996103	D	0.89917	1.0	D	0.91635	0.999	T	0.15983	-1.0418	9	0.52906	T	0.07	.	3.439	0.07457	0.4825:0.2219:0.2957:0.0	.	688	P0CG33	GOG6D_HUMAN	H	688	ENSP00000391085:P688H	ENSP00000391085:P688H	P	+	2	0	GOLGA6D	73373850	0.041000	0.20044	0.012000	0.15200	0.003000	0.03518	0.853000	0.27777	-0.638000	0.05509	0.173000	0.16961	CCT	.		0.572	GOLGA6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419798.1	NM_001145224	
RHBDF1	64285	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	108431	108431	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr16:108431G>A	ENST00000262316.6	-	18	2618	c.2476C>T	c.(2476-2478)Cct>Tct	p.P826S		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	826					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CAGCGGACAGGATAGACGTAG	0.562																																					p.P826S		.											.	RHBDF1-92	0			c.C2476T						.						148.0	152.0	150.0					16																	108431		2203	4300	6503	SO:0001583	missense	64285	exon18			GGACAGGATAGAC	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.2476C>T	16.37:g.108431G>A	ENSP00000262316:p.Pro826Ser	289	1		154	36	NM_022450	0	0	22	36	14	Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	ENST00000262316.6	37	CCDS32344.1	.	.	.	.	.	.	.	.	.	.	.	22.5	4.294006	0.81025	.	.	ENSG00000007384	ENST00000262316	T	0.52057	0.68	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.62221	0.2410	M	0.81341	2.54	0.80722	D	1	P	0.42483	0.781	P	0.47827	0.558	T	0.69007	-0.5259	10	0.87932	D	0	-17.0839	17.7897	0.88548	0.0:0.0:1.0:0.0	.	826	Q96CC6	RHDF1_HUMAN	S	826	ENSP00000262316:P826S	ENSP00000262316:P826S	P	-	1	0	RHBDF1	48431	1.000000	0.71417	0.987000	0.45799	0.955000	0.61496	9.669000	0.98622	2.512000	0.84698	0.591000	0.81541	CCT	.		0.562	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450	
MEFV	4210	hgsc.bcm.edu	37	16	3304573	3304573	+	Silent	SNP	G	G	T	rs224223	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr16:3304573G>T	ENST00000219596.1	-	2	534	c.495C>A	c.(493-495)gcC>gcA	p.A165A	MEFV_ENST00000339854.4_Intron|MEFV_ENST00000536379.1_Intron|MEFV_ENST00000541159.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	165					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.A165A(2)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GGCCCTCCGAGGCCTTCTCTC	0.766													G|||	1935	0.386382	0.528	0.5965	5008	,	,		10896	0.1667		0.4732	False		,,,				2504	0.183				p.A165A		.											.	MEFV-228	2	Substitution - coding silent(2)	prostate(2)	c.C495A						.	G	,	2112,2188		580,952,618	7.0	7.0	7.0		495,	2.9	0.0	16	dbSNP_79	7	3826,4590		964,1898,1346	no	coding-synonymous,intron	MEFV	NM_000243.2,NM_001198536.1	,	1544,2850,1964	TT,TG,GG		45.461,49.1163,46.6971	,	165/782,	3304573	5938,6778	2150	4208	6358	SO:0001819	synonymous_variant	4210	exon2			CTCCGAGGCCTTC	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.495C>A	16.37:g.3304573G>T		0	0		7	7	NM_000243	0	0	0	0	0	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	CCDS10498.1																																																																																			G|0.570;T|0.430		0.766	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243	
ERI2	112479	broad.mit.edu	37	16	20810067	20810067	+	Missense_Mutation	SNP	T	T	C	rs3213646	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr16:20810067T>C	ENST00000357967.4	-	9	1097	c.1055A>G	c.(1054-1056)tAt>tGt	p.Y352C	ERI2_ENST00000563117.1_Missense_Mutation_p.Y259C|ERI2_ENST00000389345.5_Missense_Mutation_p.Y87C|ERI2_ENST00000300005.3_Intron|ERI2_ENST00000564349.1_Missense_Mutation_p.Y259C|ERI2_ENST00000569729.1_Intron	NM_001142725.1	NP_001136197.1	A8K979	ERI2_HUMAN	ERI1 exoribonuclease family member 2	352				Y -> C (in Ref. 4; BAA96028). {ECO:0000305}.			exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						CTTTTGCATATAGATAGGTGA	0.383													T|||	1602	0.319888	0.0915	0.5014	5008	,	,		20635	0.1528		0.5805	False		,,,				2504	0.4039				p.Y352C		.											.	ERI2-153	0			c.A1055G						.	T	CYS/TYR,	245,1139		18,209,465	105.0	90.0	95.0		1055,	-4.4	0.0	16	dbSNP_106	95	1820,1362		509,802,280	yes	missense,intron	ERI2	NM_001142725.1,NM_080663.2	194,	527,1011,745	CC,CT,TT		42.8033,17.7023,45.2256	benign,	352/692,	20810067	2065,2501	692	1591	2283	SO:0001583	missense	112479	exon9			TGCATATAGATAG	BC010503	CCDS10590.1, CCDS45436.1	16p12.3	2014-02-18	2009-10-07	2008-12-16	ENSG00000196678	ENSG00000196678		"""Enhanced RNAi three prime mRNA exonucleases"""	30541	protein-coding gene	gene with protein product	"""enhanced RNAi three prime mRNA exonuclease homolog 2 (C.elegans)"", ""exoribonuclease 2"", ""zinc finger, GRF-type containing 5"""		"""exonuclease domain containing 1"""	EXOD1		10819331	Standard	NM_080663		Approved	KIAA1504, MGC16943, ZGRF5	uc010vbb.1	A8K979	OTTHUMG00000131557	ENST00000357967.4:c.1055A>G	16.37:g.20810067T>C	ENSP00000350651:p.Tyr352Cys	77	0		76	3	NM_001142725	0	0	4	4	0	Q6ZSJ2|Q96FR9|Q9P224|Q9Y6V3	Missense_Mutation	SNP	ENST00000357967.4	37	CCDS45436.1	747	0.34203296703296704	54	0.10975609756097561	168	0.46408839779005523	88	0.15384615384615385	437	0.5765171503957783	T	7.807	0.714797	0.15306	0.177023	0.571967	ENSG00000196678	ENST00000357967;ENST00000389345	T;T	0.19105	2.21;2.17	4.94	-4.38	0.03622	.	2.213460	0.01814	N	0.033658	T	0.00012	0.0000	L	0.34521	1.04	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.46679	-0.9174	9	0.40728	T	0.16	1.6145	4.0005	0.09577	0.1145:0.2589:0.4658:0.1609	rs3213646;rs17690686;rs52837000;rs58027232;rs3213646	352	A8K979	ERI2_HUMAN	C	352;87	ENSP00000350651:Y352C;ENSP00000373996:Y87C	ENSP00000350651:Y352C	Y	-	2	0	ERI2	20717568	0.000000	0.05858	0.001000	0.08648	0.733000	0.41908	-0.080000	0.11339	-0.792000	0.04480	0.533000	0.62120	TAT	T|0.674;C|0.326		0.383	ERI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_080663	
ABCC11	85320	broad.mit.edu;bcgsc.ca	37	16	48209224	48209224	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr16:48209224G>A	ENST00000394747.1	-	25	3992	c.3643C>T	c.(3643-3645)Cgg>Tgg	p.R1215W	ABCC11_ENST00000353782.5_Missense_Mutation_p.R1215W|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1215W|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000394748.1_Missense_Mutation_p.R1215W	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1215	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	AGCTTGGACCGCAAGTCCTCC	0.622																																					p.R1215W		.											.	ABCC11-95	0			c.C3643T						.						87.0	68.0	75.0					16																	48209224		2201	4300	6501	SO:0001583	missense	85320	exon25			TGGACCGCAAGTC	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3643C>T	16.37:g.48209224G>A	ENSP00000378230:p.Arg1215Trp	250	0		169	7	NM_033151	0	0	0	0	0	Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998707	0.74818	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57	4.99	2.72	0.32119	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.96904	0.8989	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.977;1.0	D	0.94753	0.7929	10	0.87932	D	0	-11.4901	4.5859	0.12282	0.1267:0.0:0.5176:0.3557	.	1215;1215	Q96J66-2;Q96J66	.;ABCCB_HUMAN	W	1215	ENSP00000311326:R1215W;ENSP00000349017:R1215W;ENSP00000378231:R1215W;ENSP00000378230:R1215W	ENSP00000311326:R1215W	R	-	1	2	ABCC11	46766725	1.000000	0.71417	0.310000	0.25168	0.990000	0.78478	2.368000	0.44222	0.342000	0.23796	0.591000	0.81541	CGG	.		0.622	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583	
CNOT1	23019	bcgsc.ca	37	16	58575489	58575489	+	Silent	SNP	G	G	A	rs11540994	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr16:58575489G>A	ENST00000317147.5	-	34	5048	c.4716C>T	c.(4714-4716)taC>taT	p.Y1572Y	CNOT1_ENST00000569240.1_Silent_p.Y1567Y|CNOT1_ENST00000245138.4_Silent_p.Y423Y	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1572	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAAACTCTTCGTAAACAGCCA	0.398													G|||	2430	0.485224	0.6687	0.2983	5008	,	,		18050	0.5704		0.3211	False		,,,				2504	0.4509				p.Y1572Y		.											.	CNOT1-95	0			c.C4716T						.	G		2658,1738	646.7+/-398.4	835,988,375	106.0	101.0	103.0		4716	3.7	1.0	16	dbSNP_120	103	2516,6084	411.9+/-350.6	380,1756,2164	no	coding-synonymous	CNOT1	NM_016284.3		1215,2744,2539	AA,AG,GG		29.2558,39.5359,39.8122		1572/2377	58575489	5174,7822	2198	4300	6498	SO:0001819	synonymous_variant	23019	exon34			CTCTTCGTAAACA	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.4716C>T	16.37:g.58575489G>A		196	0		135	6	NM_016284	0	0	43	43	0	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Silent	SNP	ENST00000317147.5	37	CCDS10799.1																																																																																			G|0.583;A|0.417		0.398	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284	
CALB2	794	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	71416647	71416647	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr16:71416647G>C	ENST00000302628.4	+	5	445	c.368G>C	c.(367-369)aGg>aCg	p.R123T	CALB2_ENST00000349553.5_Missense_Mutation_p.R123T	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	123	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytosolic calcium ion homeostasis (GO:0051480)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				GACACAGACAGGAGTGGCTAC	0.542																																					p.R123T		.											.	CALB2-90	0			c.G368C						.						215.0	188.0	198.0					16																	71416647		2198	4300	6498	SO:0001583	missense	794	exon5			CAGACAGGAGTGG	X56667	CCDS10899.1	16q22.2	2013-01-10	2008-05-19		ENSG00000172137	ENSG00000172137		"""EF-hand domain containing"""	1435	protein-coding gene	gene with protein product	"""calretinin"""	114051	"""calbindin 2, 29kDa (calretinin)"""			1906795	Standard	NM_001740		Approved	CAL2	uc002faa.4	P22676	OTTHUMG00000137589	ENST00000302628.4:c.368G>C	16.37:g.71416647G>C	ENSP00000307508:p.Arg123Thr	318	0		216	81	NM_007088	0	0	0	0	0	A8K4Y1|Q53HD2|Q96BK4	Missense_Mutation	SNP	ENST00000302628.4	37	CCDS10899.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481071	0.84747	.	.	ENSG00000172137	ENST00000349553;ENST00000302628	T;T	0.71461	-0.57;-0.57	5.86	5.86	0.93980	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.81034	0.4739	M	0.79343	2.45	0.58432	D	0.999997	P;P	0.51933	0.949;0.949	P;P	0.55667	0.781;0.781	T	0.76623	-0.2891	10	0.20519	T	0.43	-15.504	19.0307	0.92955	0.0:0.0:1.0:0.0	.	123;123	A6NER6;P22676	.;CALB2_HUMAN	T	123	ENSP00000340294:R123T;ENSP00000307508:R123T	ENSP00000307508:R123T	R	+	2	0	CALB2	69974148	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.209000	0.95087	2.784000	0.95788	0.644000	0.83932	AGG	.		0.542	CALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268988.1	NM_001740	
ZFPM1	161882	hgsc.bcm.edu	37	16	88599659	88599659	+	Missense_Mutation	SNP	G	G	T	rs71395304	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr16:88599659G>T	ENST00000319555.3	+	10	1615	c.1293G>T	c.(1291-1293)aaG>aaT	p.K431N	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	431					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)		TGGACAGAAAGGCCCTGGCCG	0.721													G|||	612	0.122204	0.0091	0.1398	5008	,	,		9175	0.3294		0.0915	False		,,,				2504	0.0808				p.K431N	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.G1293T						.	G	ASN/LYS	61,3871		0,61,1905	4.0	5.0	4.0		1293	-1.2	0.1	16	dbSNP_130	4	544,7434		10,524,3455	yes	missense	ZFPM1	NM_153813.2	94	10,585,5360	TT,TG,GG		6.8188,1.5514,5.0798	probably-damaging	431/1007	88599659	605,11305	1966	3989	5955	SO:0001583	missense	161882	exon10			CAGAAAGGCCCTG	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.1293G>T	16.37:g.88599659G>T	ENSP00000326630:p.Lys431Asn	2	0		19	4	NM_153813	0	0	3	3	0		Missense_Mutation	SNP	ENST00000319555.3	37	CCDS32502.1	308	0.14102564102564102	9	0.018292682926829267	49	0.13535911602209943	192	0.3356643356643357	58	0.07651715039577836	G	10.12	1.262467	0.23051	0.015514	0.068188	ENSG00000179588	ENST00000319555	T	0.08008	3.14	3.39	-1.17	0.09648	.	1.163550	0.06454	U	0.728227	T	0.00012	0.0000	L	0.60455	1.87	0.40357	P	0.02080599999999999	D	0.69078	0.997	P	0.57911	0.829	T	0.41161	-0.9524	9	0.42905	T	0.14	-7.9024	6.4423	0.21856	0.5249:0.0:0.4751:0.0	.	431	Q8IX07	FOG1_HUMAN	N	431	ENSP00000326630:K431N	ENSP00000326630:K431N	K	+	3	2	ZFPM1	87127160	0.522000	0.26266	0.089000	0.20774	0.599000	0.36880	0.335000	0.19806	-0.105000	0.12132	0.289000	0.19496	AAG	G|0.858;T|0.142		0.721	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2		
ABR	29	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	970425	970425	+	Silent	SNP	T	T	C			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr17:970425T>C	ENST00000302538.5	-	10	1220	c.1074A>G	c.(1072-1074)ccA>ccG	p.P358P	ABR_ENST00000544583.2_Silent_p.P312P|ABR_ENST00000574437.1_Silent_p.P312P|ABR_ENST00000536794.2_Silent_p.P140P|ABR_ENST00000291107.2_Silent_p.P321P	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	358	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CCTCGGGGGATGGAAACACCA	0.592																																					p.P358P	Esophageal Squamous(197;2016 2115 4129 29033 46447)	.											.	ABR-91	0			c.A1074G						.						36.0	35.0	35.0					17																	970425		2203	4300	6503	SO:0001819	synonymous_variant	29	exon10			GGGGGATGGAAAC	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.1074A>G	17.37:g.970425T>C		47	0		19	8	NM_021962	0	0	0	0	0	B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Silent	SNP	ENST00000302538.5	37	CCDS10999.1																																																																																			.		0.592	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4		
ARRB2	409	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	4619770	4619770	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr17:4619770C>T	ENST00000269260.2	+	5	457	c.224C>T	c.(223-225)tCc>tTc	p.S75F	ARRB2_ENST00000381488.6_Missense_Mutation_p.S60F|ARRB2_ENST00000346341.2_Missense_Mutation_p.S60F|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000575877.1_Missense_Mutation_p.S75F|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000412477.3_Missense_Mutation_p.S75F	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	75					adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CTGGGCTTGTCCTTCCGCAAA	0.657																																					p.S75F		.											.	ARRB2-522	0			c.C224T						.						159.0	114.0	129.0					17																	4619770		2203	4300	6503	SO:0001583	missense	409	exon5			GCTTGTCCTTCCG		CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"""arrestin 3"""	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.224C>T	17.37:g.4619770C>T	ENSP00000269260:p.Ser75Phe	99	0		81	38	NM_001257329	0	0	7	7	0	B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Missense_Mutation	SNP	ENST00000269260.2	37	CCDS11050.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833394	0.91036	.	.	ENSG00000141480	ENST00000381488;ENST00000269260;ENST00000346341;ENST00000412477	T;T	0.29397	1.57;1.57	4.67	4.67	0.58626	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);Arrestin, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.56790	0.2009	M	0.78049	2.395	0.80722	D	1	P;D;D;D;D	0.89917	0.953;0.996;0.991;1.0;0.994	P;D;P;D;D	0.85130	0.863;0.917;0.879;0.997;0.929	T	0.62374	-0.6868	10	0.87932	D	0	-16.0239	15.1099	0.72346	0.0:1.0:0.0:0.0	.	75;60;75;60;75	B4DLW0;P32121-2;P32121-3;G5E980;P32121	.;.;.;.;ARRB2_HUMAN	F	75;75;60;76	ENSP00000269260:S75F;ENSP00000341895:S60F	ENSP00000269260:S75F	S	+	2	0	ARRB2	4566519	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.291000	0.78721	2.437000	0.82529	0.563000	0.77884	TCC	.		0.657	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439552.1	NM_004313	
SLC13A5	284111	bcgsc.ca	37	17	6594223	6594223	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr17:6594223C>T	ENST00000433363.2	-	10	1545	c.1312G>A	c.(1312-1314)Gag>Aag	p.E438K	SLC13A5_ENST00000293800.6_Missense_Mutation_p.E421K|SLC13A5_ENST00000573648.1_Missense_Mutation_p.E438K|SLC13A5_ENST00000381074.4_Missense_Mutation_p.E395K	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	438					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						TGCAAGGGCTCCATCTGCTTC	0.627																																					p.E438K		.											.	SLC13A5-90	0			c.G1312A						.						150.0	133.0	139.0					17																	6594223		2203	4300	6503	SO:0001583	missense	284111	exon10			AGGGCTCCATCTG	AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"""Solute carriers"""	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.1312G>A	17.37:g.6594223C>T	ENSP00000406220:p.Glu438Lys	139	0		100	29	NM_001143838	0	0	0	0	0	B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Missense_Mutation	SNP	ENST00000433363.2	37	CCDS11079.1	.	.	.	.	.	.	.	.	.	.	C	5.164	0.215809	0.09810	.	.	ENSG00000141485	ENST00000293800;ENST00000433363;ENST00000381074	T;T	0.02631	4.22;4.22	5.06	3.05	0.35203	.	0.259165	0.43110	N	0.000610	T	0.01905	0.0060	N	0.17674	0.51	0.39057	D	0.960442	B;B;B;B	0.17268	0.008;0.021;0.005;0.002	B;B;B;B	0.18263	0.021;0.021;0.021;0.021	T	0.42832	-0.9428	10	0.07482	T	0.82	.	9.0939	0.36627	0.0:0.8197:0.0:0.1803	.	438;395;421;438	B7ZLB4;F8W7N2;B3KXR0;Q86YT5	.;.;.;S13A5_HUMAN	K	438;438;395	ENSP00000406220:E438K;ENSP00000370464:E395K	ENSP00000293800:E438K	E	-	1	0	SLC13A5	6534947	0.727000	0.28069	1.000000	0.80357	0.620000	0.37586	0.521000	0.22893	1.272000	0.44329	-0.140000	0.14226	GAG	.		0.627	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	NM_177550	
UTP18	51096	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	49354664	49354664	+	Splice_Site	SNP	A	A	T			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr17:49354664A>T	ENST00000225298.7	+	7	1068	c.1011A>T	c.(1009-1011)agA>agT	p.R337S		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	337					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			ATCAAGTGAGAGGTAAGATTT	0.413																																					p.R337S		.											.	UTP18-90	0			c.A1011T						.						110.0	100.0	103.0					17																	49354664		1907	4115	6022	SO:0001630	splice_region_variant	51096	exon7			AGTGAGAGGTAAG	AF151806	CCDS42362.1	17q21.33	2013-05-21	2011-12-09	2006-05-16	ENSG00000011260	ENSG00000011260		"""WD repeat domain containing"""	24274	protein-coding gene	gene with protein product		612816	"""WD repeat domain 50"""	WDR50		10810093, 8619474, 15590835	Standard	NM_016001		Approved	CGI-48	uc002its.3	Q9Y5J1	OTTHUMG00000162370	ENST00000225298.7:c.1012+1A>T	17.37:g.49354664A>T		75	0		81	16	NM_016001	0	0	0	3	3	Q9H4N6	Missense_Mutation	SNP	ENST00000225298.7	37	CCDS42362.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.341999	0.81911	.	.	ENSG00000011260	ENST00000225298;ENST00000508506;ENST00000506940	D	0.98075	-4.7	5.94	4.67	0.58626	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.97826	0.9286	L	0.53561	1.675	0.54753	D	0.999986	D	0.76494	0.999	D	0.69142	0.962	D	0.97802	1.0245	10	0.54805	T	0.06	-23.2376	12.5991	0.56487	0.9256:0.0:0.0744:0.0	.	337	Q9Y5J1	UTP18_HUMAN	S	337;313;47	ENSP00000225298:R337S	ENSP00000225298:R337S	R	+	3	2	UTP18	46709663	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.106000	0.71511	2.272000	0.75746	0.459000	0.35465	AGA	.		0.413	UTP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368654.1	NM_016001	Missense_Mutation
TRIM37	4591	broad.mit.edu	37	17	57139965	57139965	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr17:57139965T>C	ENST00000262294.7	-	11	1164	c.905A>G	c.(904-906)cAa>cGa	p.Q302R	TRIM37_ENST00000393066.3_Missense_Mutation_p.Q302R|TRIM37_ENST00000376149.3_Missense_Mutation_p.Q180R|TRIM37_ENST00000393065.2_Missense_Mutation_p.Q268R	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	302	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCCTGAAACTTGAAGAGGTGG	0.368									Mulibrey Nanism																												p.Q302R		.											.	TRIM37-660	0			c.A905G						.						63.0	60.0	61.0					17																	57139965		2203	4300	6503	SO:0001583	missense	4591	exon11	Familial Cancer Database	Perheentupa syndrome	GAAACTTGAAGAG	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.905A>G	17.37:g.57139965T>C	ENSP00000262294:p.Gln302Arg	114	0		121	3	NM_015294	0	0	14	14	0	Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	T	15.31	2.797085	0.50208	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.47	5.47	0.80525	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.36468	0.0968	N	0.12746	0.255	0.58432	D	0.999995	B;P;B	0.50943	0.216;0.94;0.073	B;P;B	0.50440	0.157;0.641;0.03	T	0.26360	-1.0105	10	0.40728	T	0.16	-31.0458	15.5432	0.76074	0.0:0.0:0.0:1.0	.	268;180;302	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	R	302;302;180;268	ENSP00000376785:Q302R;ENSP00000262294:Q302R;ENSP00000365319:Q180R;ENSP00000376784:Q268R	ENSP00000262294:Q302R	Q	-	2	0	TRIM37	54494747	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.880000	0.87243	2.081000	0.62600	0.528000	0.53228	CAA	.		0.368	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294	
PRKAR1A	5573	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	66519041	66519041	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr17:66519041G>T	ENST00000589228.1	+	3	450	c.322G>T	c.(322-324)Gaa>Taa	p.E108*	PRKAR1A_ENST00000588188.2_Nonsense_Mutation_p.E108*|PRKAR1A_ENST00000358598.2_Nonsense_Mutation_p.E108*|PRKAR1A_ENST00000392711.1_Nonsense_Mutation_p.E108*|PRKAR1A_ENST00000536854.2_Nonsense_Mutation_p.E108*|PRKAR1A_ENST00000586397.1_Nonsense_Mutation_p.E108*	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	108	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)	p.E108*(1)		adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					CTACACGGAGGAAGATGCGGC	0.493			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												p.E108X	Ovarian(167;637 1670 33025 39608 46699 51856)	.	yes	"""Dom, Rec"""	yes	Carney complex	17	17q23-q24	5573	"""protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"""		"""E, M"""	.	PRKAR1A-1141	1	Substitution - Nonsense(1)	lung(1)	c.G322T						.						91.0	81.0	85.0					17																	66519041		2203	4300	6503	SO:0001587	stop_gained	5573	exon2	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;	ACGGAGGAAGATG		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"""Carney complex type 1"""	188830	"""tissue specific extinguisher 1"""	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.322G>T	17.37:g.66519041G>T	ENSP00000464977:p.Glu108*	72	0		58	36	NM_001276290	0	0	59	62	3	K7ER48|Q567S7	Nonsense_Mutation	SNP	ENST00000589228.1	37	CCDS11678.1	.	.	.	.	.	.	.	.	.	.	G	37	6.417900	0.97550	.	.	ENSG00000108946	ENST00000358598;ENST00000392711;ENST00000392710;ENST00000536854	.	.	.	5.76	5.76	0.90799	.	0.089199	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-31.3028	19.946	0.97183	0.0:0.0:1.0:0.0	.	.	.	.	X	108	.	ENSP00000351410:E108X	E	+	1	0	PRKAR1A	64030636	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	9.869000	0.99810	2.721000	0.93114	0.650000	0.86243	GAA	.		0.493	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1		
POTEC	388468	bcgsc.ca	37	18	14542654	14542654	+	Silent	SNP	C	C	A			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr18:14542654C>A	ENST00000358970.5	-	1	491	c.492G>T	c.(490-492)acG>acT	p.T164T	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	164								p.T164T(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGTTCATGTCCGTGTCCCTGA	0.592																																					p.T164T		.											.	POTEC-3	2	Substitution - coding silent(2)	lung(1)|kidney(1)	c.G492T						.						260.0	241.0	247.0					18																	14542654		692	1591	2283	SO:0001819	synonymous_variant	388468	exon1			CATGTCCGTGTCC	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.492G>T	18.37:g.14542654C>A		613	1		207	17	NM_001137671	0	0	0	0	0		Silent	SNP	ENST00000358970.5	37	CCDS45835.1																																																																																			.		0.592	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269	
POTEC	388468	bcgsc.ca	37	18	14542693	14542693	+	Silent	SNP	C	C	T	rs371316587		TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr18:14542693C>T	ENST00000358970.5	-	1	452	c.453G>A	c.(451-453)aaG>aaA	p.K151K	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	151								p.K151K(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTCTGGGGACCTTACCCCACC	0.592																																					p.K151K		.											.	POTEC-3	2	Substitution - coding silent(2)	lung(1)|endometrium(1)	c.G453A						.						172.0	158.0	163.0					18																	14542693		692	1591	2283	SO:0001819	synonymous_variant	388468	exon1			GGGGACCTTACCC	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.453G>A	18.37:g.14542693C>T		702	6		259	56	NM_001137671	0	0	0	0	0		Silent	SNP	ENST00000358970.5	37	CCDS45835.1																																																																																			.		0.592	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269	
DSC2	1824	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	28672247	28672247	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr18:28672247G>T	ENST00000280904.6	-	3	614	c.171C>A	c.(169-171)tgC>tgA	p.C57*	DSC2_ENST00000251081.6_Nonsense_Mutation_p.C57*	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	57					bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CAGCTGTAAAGCACTCTTTCA	0.358																																					p.C57X		.											.	DSC2-517	0			c.C171A						.						56.0	55.0	55.0					18																	28672247		2203	4298	6501	SO:0001587	stop_gained	1824	exon3			TGTAAAGCACTCT	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.171C>A	18.37:g.28672247G>T	ENSP00000280904:p.Cys57*	122	0		136	61	NM_024422	0	0	0	0	0		Nonsense_Mutation	SNP	ENST00000280904.6	37	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857216	0.91433	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000399347	.	.	.	5.34	1.34	0.21922	.	0.000000	0.35067	N	0.003470	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3554	0.32327	0.5171:0.0:0.4829:0.0	.	.	.	.	X	57	.	ENSP00000251081:C57X	C	-	3	2	DSC2	26926245	1.000000	0.71417	0.992000	0.48379	0.941000	0.58515	0.889000	0.28282	0.295000	0.22570	0.557000	0.71058	TGC	.		0.358	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949	
DOHH	83475	hgsc.bcm.edu	37	19	3492318	3492318	+	Silent	SNP	G	G	C	rs78287632	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr19:3492318G>C	ENST00000427575.1	-	4	982	c.531C>G	c.(529-531)cgC>cgG	p.R177R	DOHH_ENST00000250937.3_Silent_p.R177R	NM_001145165.1	NP_001138637.1			deoxyhypusine hydroxylase/monooxygenase											central_nervous_system(1)|large_intestine(1)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAACATGGCGCGGTATCGCT	0.741													G|||	93	0.0185703	0.0227	0.013	5008	,	,		12700	0.0		0.0298	False		,,,				2504	0.0245				p.R177R		.											.	DOHH-90	0			c.C531G						.	G	,	68,4070		0,68,2001	5.0	7.0	6.0		531,531	-7.8	0.8	19	dbSNP_132	6	159,7969		1,157,3906	no	coding-synonymous,coding-synonymous	DOHH	NM_001145165.1,NM_031304.4	,	1,225,5907	CC,CG,GG		1.9562,1.6433,1.8506	,	177/303,177/303	3492318	227,12039	2069	4064	6133	SO:0001819	synonymous_variant	83475	exon4			CATGGCGCGGTAT	BC002817	CCDS12108.1	19p13.3	2008-02-05	2006-05-22	2006-05-22		ENSG00000129932			28662	protein-coding gene	gene with protein product		611262	"""HEAT-like (PBS lyase) repeat containing 1"""	HLRC1		16371467, 16533814	Standard	NM_031304		Approved	MGC4293	uc002lxs.3	Q9BU89		ENST00000427575.1:c.531C>G	19.37:g.3492318G>C		0	0		11	5	NM_001145165	0	0	7	17	10		Silent	SNP	ENST00000427575.1	37	CCDS12108.1																																																																																			G|0.979;C|0.021		0.741	DOHH-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452932.1	NM_031304	
CREB3L3	84699	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	4171861	4171861	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr19:4171861T>A	ENST00000078445.2	+	10	1428	c.1281T>A	c.(1279-1281)aaT>aaA	p.N427K	CREB3L3_ENST00000602147.1_3'UTR|CREB3L3_ENST00000602257.1_Missense_Mutation_p.N425K|CREB3L3_ENST00000252587.3_3'UTR|CREB3L3_ENST00000595923.1_Missense_Mutation_p.N426K	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	427					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTGAGGAATGCAACAGAGG	0.687																																					p.N427K		.											.	CREB3L3-92	0			c.T1281A						.						24.0	26.0	25.0					19																	4171861		2202	4294	6496	SO:0001583	missense	84699	exon10			GAGGAATGCAACA		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.1281T>A	19.37:g.4171861T>A	ENSP00000078445:p.Asn427Lys	144	1		187	26	NM_032607	0	0	0	0	0	B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	37	CCDS12121.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.598411	0.46318	.	.	ENSG00000060566	ENST00000078445;ENST00000381943	D	0.85773	-2.03	3.27	2.13	0.27403	.	0.740781	0.12485	N	0.464801	T	0.74481	0.3722	L	0.32530	0.975	0.09310	N	0.999993	P;P;P	0.40731	0.608;0.728;0.608	B;B;B	0.36186	0.109;0.219;0.109	T	0.66180	-0.5988	10	0.72032	D	0.01	-40.2085	6.4549	0.21924	0.0:0.8612:0.0:0.1388	.	425;426;427	B7ZL69;Q68CJ9-2;Q68CJ9	.;.;CR3L3_HUMAN	K	427;385	ENSP00000078445:N427K	ENSP00000078445:N427K	N	+	3	2	CREB3L3	4122861	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-0.621000	0.05559	0.928000	0.37168	-0.337000	0.08149	AAT	.		0.687	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607	
PLIN5	440503	hgsc.bcm.edu	37	19	4524016	4524016	+	Missense_Mutation	SNP	G	G	A	rs1062223	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr19:4524016G>A	ENST00000381848.3	-	8	996	c.916C>T	c.(916-918)Cgg>Tgg	p.R306W		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	306	Interaction with PNPLA2 and ABHD5. {ECO:0000250}.		R -> W (in dbSNP:rs1062223). {ECO:0000269|PubMed:17234449}.		lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						GGCAGGCCCCGCACGCTGGAC	0.711													G|||	464	0.0926518	0.0091	0.2104	5008	,	,		13130	0.0288		0.1958	False		,,,				2504	0.0818				p.R306W		.											.	PLIN5-22	0			c.C916T						.	G	TRP/ARG	154,3340		10,134,1603	3.0	4.0	4.0		916	4.6	1.0	19	dbSNP_86	4	1294,5560		114,1066,2247	yes	missense	PLIN5	NM_001013706.2	101	124,1200,3850	AA,AG,GG		18.8795,4.4076,13.993	probably-damaging	306/464	4524016	1448,8900	1747	3427	5174	SO:0001583	missense	440503	exon8			GGCCCCGCACGCT	DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"""Perilipins"""	33196	protein-coding gene	gene with protein product	"""lipid storage droplet protein 5"""	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.916C>T	19.37:g.4524016G>A	ENSP00000371272:p.Arg306Trp	0	0		7	4	NM_001013706	0	0	0	2	2	A2RRC1|Q6ZS68	Missense_Mutation	SNP	ENST00000381848.3	37	CCDS42473.1	234	0.10714285714285714	10	0.02032520325203252	65	0.17955801104972377	18	0.03146853146853147	141	0.18601583113456466	.	17.14	3.314611	0.60524	0.044076	0.188795	ENSG00000214456	ENST00000381848	T	0.19938	2.11	4.59	4.59	0.56863	.	0.906390	0.09191	U	0.835949	T	0.00073	0.0002	L	0.47716	1.5	0.09310	P	1.0	D	0.89917	1.0	D	0.71184	0.972	T	0.05666	-1.0871	9	0.87932	D	0	-24.5419	14.8561	0.70338	0.0:0.0:1.0:0.0	rs1062223;rs3170378	306	Q00G26	PLIN5_HUMAN	W	306	ENSP00000371272:R306W	ENSP00000371272:R306W	R	-	1	2	PLIN5	4475016	0.995000	0.38212	0.996000	0.52242	0.090000	0.18270	5.443000	0.66581	2.080000	0.62538	0.511000	0.50034	CGG	G|0.892;A|0.108		0.711	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458647.1	NM_001013706	
P2RY11	5032	broad.mit.edu	37	19	10224474	10224474	+	Missense_Mutation	SNP	A	A	C			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr19:10224474A>C	ENST00000321826.4	+	2	369	c.185A>C	c.(184-186)cAc>cCc	p.H62P	PPAN_ENST00000556468.1_Missense_Mutation_p.H482P|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.H482P|P2RY11_ENST00000471843.1_3'UTR|PPAN-P2RY11_ENST00000428358.1_Missense_Mutation_p.T503P	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11	62					activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CGCCCATGGCACCCCGCCGTG	0.667											OREG0025230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T503P		.											.	PPAN-P2RY11-24	0			c.A1507C						.						42.0	42.0	42.0					19																	10224474		2203	4300	6503	SO:0001583	missense	692312	exon13			CATGGCACCCCGC	AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166	ENST00000321826.4:c.185A>C	19.37:g.10224474A>C	ENSP00000323872:p.His62Pro	129	8	663	142	15	NM_001198690	0	0	16	17	1	B2R8X9|O43190|Q9BYU4|Q9H170	Missense_Mutation	SNP	ENST00000321826.4	37	CCDS12226.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.54|13.54	2.266732|2.266732	0.40095|0.40095	.|.	.|.	ENSG00000243207;ENSG00000130810;ENSG00000244165|ENSG00000243207	ENST00000393796;ENST00000556468;ENST00000321826|ENST00000428358	T;T;T|T	0.37235|0.33865	1.21;1.21;1.21|1.39	4.02|4.02	0.534|0.534	0.17127|0.17127	GPCR, rhodopsin-like superfamily (1);|.	0.136610|.	0.48286|.	N|.	0.000194|.	T|T	0.26991|0.26991	0.0661|0.0661	L|L	0.47016|0.47016	1.485|1.485	0.29859|0.29859	N|N	0.827769|0.827769	B|B	0.13594|0.17038	0.008|0.02	B|B	0.20184|0.17433	0.028|0.018	T|T	0.26189|0.26189	-1.0110|-1.0110	10|8	0.38643|.	T|.	0.18|.	-2.2629|-2.2629	5.9573|5.9573	0.19281|0.19281	0.5961:0.3147:0.0893:0.0|0.5961:0.3147:0.0893:0.0	.|.	62|503	Q96G91|C9J3F9	P2Y11_HUMAN|.	P|P	482;482;62|503	ENSP00000377385:H482P;ENSP00000450710:H482P;ENSP00000323872:H62P|ENSP00000411918:T503P	ENSP00000323872:H62P|.	H|T	+|+	2|1	0|0	PPAN;P2RY11;PPAN-P2RY11|PPAN-P2RY11	10085474|10085474	0.332000|0.332000	0.24722|0.24722	0.556000|0.556000	0.28293|0.28293	0.008000|0.008000	0.06430|0.06430	1.673000|1.673000	0.37534|0.37534	-0.158000|-0.158000	0.11040|0.11040	0.459000|0.459000	0.35465|0.35465	CAC|ACC	.		0.667	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	NM_002566	
PGLS	25796	hgsc.bcm.edu	37	19	17622614	17622614	+	Silent	SNP	C	C	T	rs11086075	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr19:17622614C>T	ENST00000252603.2	+	1	177	c.133C>T	c.(133-135)Ctg>Ttg	p.L45L	CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	45					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	6-phosphogluconolactonase activity (GO:0017057)|monosaccharide binding (GO:0048029)			endometrium(1)|lung(1)	2						CGCGCTCGGCCTGTCGGGCGG	0.736													C|||	1862	0.371805	0.2496	0.4207	5008	,	,		10575	0.377		0.4851	False		,,,				2504	0.3804				p.L45L		.											.	PGLS-90	0			c.C133T						.	C		662,2504		107,448,1028	2.0	2.0	2.0		133	2.6	1.0	19	dbSNP_120	2	2200,4094		507,1186,1454	no	coding-synonymous	PGLS	NM_012088.2		614,1634,2482	TT,TC,CC		34.9539,20.9097,30.2537		45/259	17622614	2862,6598	1583	3147	4730	SO:0001819	synonymous_variant	25796	exon1			CTCGGCCTGTCGG	AJ243972	CCDS12361.1	19p13.2	2008-02-05				ENSG00000130313	3.1.1.31		8903	protein-coding gene	gene with protein product		604951				10518023	Standard	NM_012088		Approved	6PGL	uc002ngw.3	O95336		ENST00000252603.2:c.133C>T	19.37:g.17622614C>T		0	0		12	12	NM_012088	0	0	0	28	28		Silent	SNP	ENST00000252603.2	37	CCDS12361.1																																																																																			C|0.617;T|0.383		0.736	PGLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464154.1		
PRX	57716	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	40909675	40909676	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr19:40909675_40909676delCC	ENST00000324001.7	-	5	391_392	c.121_122delGG	c.(121-123)ggafs	p.G41fs	PRX_ENST00000291825.7_Frame_Shift_Del_p.G41fs	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	41	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AACGAAGATTCCCTCTTTGCCG	0.688																																					p.41_41del		.											.	PRX-92	0			c.121_122del						.																																			SO:0001589	frameshift_variant	57716	exon5			AAGATTCCCTCTT	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.121_122delGG	19.37:g.40909675_40909676delCC	ENSP00000326018:p.Gly41fs	140	0		114	42	NM_181882	0	0	0	0	0	Q9BXL9|Q9HCF2	Frame_Shift_Del	DEL	ENST00000324001.7	37	CCDS33028.1																																																																																			.		0.688	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956	
PTGIR	5739	hgsc.bcm.edu	37	19	47127324	47127324	+	Silent	SNP	C	C	G	rs2229128	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr19:47127324C>G	ENST00000291294.2	-	2	292	c.159G>C	c.(157-159)gtG>gtC	p.V53V	PTGIR_ENST00000594275.1_Intron|PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000596260.1_Silent_p.V53V	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	53					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of GTPase activity (GO:0043547)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Epoprostenol(DB01240)|Iloprost(DB01088)|Treprostinil(DB00374)	CCAGTCCGGTCACCAGCACCG	0.731													G|||	1139	0.227436	0.1362	0.2133	5008	,	,		13968	0.3313		0.2465	False		,,,				2504	0.2342				p.V53V		.											.	PTGIR-522	0			c.G159C						.	G		523,3103		62,399,1352	3.0	5.0	5.0		159	2.2	1.0	19	dbSNP_98	5	1678,5498		231,1216,2141	no	coding-synonymous	PTGIR	NM_000960.3		293,1615,3493	GG,GC,CC		23.3835,14.4236,20.3759		53/387	47127324	2201,8601	1813	3588	5401	SO:0001819	synonymous_variant	5739	exon2			TCCGGTCACCAGC		CCDS12686.1	19q13.3	2012-08-08				ENSG00000160013		"""GPCR / Class A : Prostanoid receptors"""	9602	protein-coding gene	gene with protein product		600022				7759114	Standard	NM_000960		Approved	IP	uc002pex.3	P43119		ENST00000291294.2:c.159G>C	19.37:g.47127324C>G		0	0		9	4	NM_000960	0	0	0	0	0		Silent	SNP	ENST00000291294.2	37	CCDS12686.1																																																																																			C|0.254;G|0.746		0.731	PTGIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466581.1		
PLA2G4C	8605	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	48601409	48601409	+	Silent	SNP	C	C	T			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr19:48601409C>T	ENST00000599921.1	-	6	912	c.555G>A	c.(553-555)gaG>gaA	p.E185E	PLA2G4C_ENST00000413144.2_Silent_p.E185E|PLA2G4C_ENST00000354276.3_Silent_p.E185E|PLA2G4C_ENST00000599111.1_Silent_p.E195E			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	185	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		GTGCTCTTGCCTCCTGCCAGG	0.502																																					p.E195E		.											.	PLA2G4C-92	0			c.G585A						.						164.0	134.0	144.0					19																	48601409		2203	4300	6503	SO:0001819	synonymous_variant	8605	exon6			TCTTGCCTCCTGC	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.555G>A	19.37:g.48601409C>T		155	0		155	43	NM_001159322	0	0	0	0	0	B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Silent	SNP	ENST00000599921.1	37	CCDS12710.1																																																																																			.		0.502	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1		
HRC	3270	hgsc.bcm.edu	37	19	49657751	49657751	+	Silent	SNP	A	A	G			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr19:49657751A>G	ENST00000252825.4	-	1	930	c.744T>C	c.(742-744)gaT>gaC	p.D248D	HRC_ENST00000595625.1_Silent_p.D248D	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	248	4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Asp-rich (acidic).				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)	p.D248D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		catcatcatcatcgtcatctt	0.507																																					p.D248D	Melanoma(37;75 1097 24567 25669 30645)	.											.	HRC-91	1	Substitution - coding silent(1)	large_intestine(1)	c.T744C						.						132.0	95.0	107.0					19																	49657751		2203	4300	6503	SO:0001819	synonymous_variant	3270	exon1			ATCATCATCGTCA		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.744T>C	19.37:g.49657751A>G		82	0		71	6	NM_002152	0	0	0	0	0	Q504Y6	Silent	SNP	ENST00000252825.4	37	CCDS12759.1																																																																																			A|0.998;G|0.002		0.507	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152	
PRR12	57479	hgsc.bcm.edu	37	19	50100554	50100554	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr19:50100554G>C	ENST00000418929.2	+	4	2974	c.2962G>C	c.(2962-2964)Gat>Cat	p.D988H		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCCTGCTTATGATCCCTATGG	0.736																																					p.D988H		.											.	PRR12-70	0			c.G2962C						.						3.0	4.0	4.0					19																	50100554		1585	3699	5284	SO:0001583	missense	57479	exon4			GCTTATGATCCCT	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.2962G>C	19.37:g.50100554G>C	ENSP00000394510:p.Asp988His	1	0		24	6	NM_020719	0	0	9	9	0	E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.567920	0.28003	.	.	ENSG00000126464	ENST00000418929;ENST00000246798;ENST00000314734	T	0.25414	1.8	4.79	4.79	0.61399	.	0.000000	0.45126	D	0.000382	T	0.34279	0.0892	N	0.20685	0.6	0.49051	D	0.999748	D	0.89917	1.0	D	0.91635	0.999	T	0.05699	-1.0869	10	0.28530	T	0.3	-21.245	14.8476	0.70272	0.0:0.0:1.0:0.0	.	988	Q9ULL5-3	.	H	988;168;168	ENSP00000394510:D988H	ENSP00000246798:D168H	D	+	1	0	PRR12	54792366	0.986000	0.35501	0.979000	0.43373	0.599000	0.36880	2.157000	0.42320	2.476000	0.83614	0.491000	0.48974	GAT	.		0.736	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719	
PNKP	11284	broad.mit.edu	37	19	50370408	50370408	+	Silent	SNP	T	T	C			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr19:50370408T>C	ENST00000322344.3	-	2	163	c.54A>G	c.(52-54)ggA>ggG	p.G18G	PNKP_ENST00000600910.1_Silent_p.G18G|PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000596014.1_Silent_p.G18G|PNKP_ENST00000600573.1_Silent_p.G18G	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	18	FHA.			G -> E (in Ref. 1; AAD51135). {ECO:0000305}.	dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		TGGGGGGCGCTCCCCCAGGGG	0.711								Other BER factors																													p.G18G		.											.	PNKP-253	0			c.A54G						.						13.0	16.0	15.0					19																	50370408		2177	4247	6424	SO:0001819	synonymous_variant	11284	exon2			GGGCGCTCCCCCA	AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.54A>G	19.37:g.50370408T>C		34	1		75	24	NM_007254	0	0	39	41	2	Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Silent	SNP	ENST00000322344.3	37	CCDS12783.1																																																																																			.		0.711	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	NM_007254	
TRAPPC12	51112	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	3392328	3392328	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr2:3392328C>T	ENST00000324266.5	+	2	1129	c.934C>T	c.(934-936)Ccc>Tcc	p.P312S	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.P312S	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	312					vesicle-mediated transport (GO:0016192)												CGCCTGGCTTCCCGGCGAGGC	0.672																																					p.P312S		.											.	.	0			c.C934T						.						34.0	30.0	31.0					2																	3392328		2203	4300	6503	SO:0001583	missense	51112	exon2			TGGCTTCCCGGCG	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.934C>T	2.37:g.3392328C>T	ENSP00000324318:p.Pro312Ser	104	1		357	122	NM_016030	0	0	18	33	15	B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	ENST00000324266.5	37	CCDS1652.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967988	0.74131	.	.	ENSG00000171853	ENST00000382110;ENST00000304601;ENST00000324266	T;T	0.61158	0.13;0.13	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.72045	0.3412	L	0.55834	1.745	0.80722	D	1	D;D;D	0.89917	0.968;0.985;1.0	P;P;D	0.91635	0.795;0.845;0.999	T	0.68812	-0.5310	10	0.37606	T	0.19	.	17.9762	0.89128	0.0:1.0:0.0:0.0	.	295;312;312	E7ENL7;Q8WVT3;Q53S18	.;TPC12_HUMAN;.	S	312;295;312	ENSP00000371544:P312S;ENSP00000324318:P312S	ENSP00000303612:P295S	P	+	1	0	TTC15	3371335	1.000000	0.71417	0.665000	0.29768	0.356000	0.29392	7.164000	0.77533	2.786000	0.95864	0.561000	0.74099	CCC	.		0.672	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030	
APOB	338	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	21226106	21226106	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr2:21226106G>T	ENST00000233242.1	-	29	12315	c.12188C>A	c.(12187-12189)gCt>gAt	p.A4063D	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4063					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAGCCAGAAGCTGCCTCTTC	0.468																																					p.A4063D		.											.	APOB-175	0			c.C12188A						.						196.0	212.0	206.0					2																	21226106		2203	4300	6503	SO:0001583	missense	338	exon29			CCAGAAGCTGCCT	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12188C>A	2.37:g.21226106G>T	ENSP00000233242:p.Ala4063Asp	79	0		91	16	NM_000384	0	0	0	0	0	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.631237	0.46944	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.38722	1.12	5.89	1.88	0.25563	.	0.485095	0.18783	N	0.131282	T	0.41627	0.1167	M	0.64997	1.995	0.09310	N	0.999994	P	0.45902	0.868	B	0.42319	0.383	T	0.34329	-0.9833	10	0.87932	D	0	.	11.8845	0.52594	0.2298:0.0:0.7702:0.0	.	4063	P04114	APOB_HUMAN	D	4063	ENSP00000233242:A4063D	ENSP00000233242:A4063D	A	-	2	0	APOB	21079611	0.107000	0.21998	0.070000	0.20053	0.926000	0.56050	1.321000	0.33678	0.320000	0.23234	0.655000	0.94253	GCT	.		0.468	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
CRIM1	51232	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	36764534	36764534	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr2:36764534G>C	ENST00000280527.2	+	14	2835	c.2468G>C	c.(2467-2469)gGg>gCg	p.G823A	AC007401.2_ENST00000406220.1_Intron	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	823	VWFC 6. {ECO:0000255|PROSITE- ProRule:PRU00220}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CACTTCAGTGGGAAGGCCTAT	0.562																																					p.G823A		.											.	CRIM1-118	0			c.G2468C						.						98.0	91.0	94.0					2																	36764534		2203	4300	6503	SO:0001583	missense	51232	exon14			TCAGTGGGAAGGC	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.2468G>C	2.37:g.36764534G>C	ENSP00000280527:p.Gly823Ala	147	0		95	50	NM_016441	0	0	11	13	2	Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	ENST00000280527.2	37	CCDS1783.1	.	.	.	.	.	.	.	.	.	.	g	27.7	4.854133	0.91355	.	.	ENSG00000150938	ENST00000280527	T	0.73258	-0.73	5.12	5.12	0.69794	von Willebrand factor, type C (3);	0.202132	0.42964	D	0.000622	D	0.85022	0.5602	H	0.94964	3.605	0.51767	D	0.999938	P	0.52692	0.955	P	0.51615	0.675	D	0.89697	0.3902	10	0.72032	D	0.01	-17.2493	17.6738	0.88225	0.0:0.0:1.0:0.0	.	823	Q9NZV1	CRIM1_HUMAN	A	823	ENSP00000280527:G823A	ENSP00000280527:G823A	G	+	2	0	CRIM1	36618038	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.475000	0.90417	2.395000	0.81488	0.627000	0.83407	GGG	.		0.562	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441	
DNAH6	1768	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	84908502	84908502	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr2:84908502A>G	ENST00000237449.6	+	41	6774	c.6766A>G	c.(6766-6768)Agt>Ggt	p.S2256G	DNAH6_ENST00000602588.1_Missense_Mutation_p.S277G|DNAH6_ENST00000389394.3_Missense_Mutation_p.S2256G|DNAH6_ENST00000398278.2_Missense_Mutation_p.S2256G			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	2256	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TGGTTTCCTGAGTGACTTTCC	0.373																																					p.S2256G		.											.	DNAH6-69	0			c.A6766G						.						104.0	89.0	93.0					2																	84908502		692	1591	2283	SO:0001583	missense	1768	exon42			TTCCTGAGTGACT	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.6766A>G	2.37:g.84908502A>G	ENSP00000237449:p.Ser2256Gly	95	0		105	31	NM_001370	0	0	0	0	0	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	A	4.316	0.057903	0.08339	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.36157	1.27;1.27;1.27	5.29	-6.49	0.01890	.	.	.	.	.	T	0.17365	0.0417	L	0.33710	1.025	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.003	T	0.31971	-0.9924	9	0.22706	T	0.39	.	0.0277	0.00005	0.3005:0.1855:0.214:0.3	.	2256;2256	Q9C0G6;Q9C0G6-4	DYH6_HUMAN;.	G	2256	ENSP00000374045:S2256G;ENSP00000381326:S2256G;ENSP00000237449:S2256G	ENSP00000237449:S2256G	S	+	1	0	DNAH6	84762013	0.000000	0.05858	0.005000	0.12908	0.326000	0.28443	-0.097000	0.11042	-0.624000	0.05611	-0.357000	0.07601	AGT	.		0.373	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370	
NCKAP5	344148	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	133540078	133540078	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr2:133540078T>C	ENST00000409261.1	-	14	4679	c.4306A>G	c.(4306-4308)Act>Gct	p.T1436A	NCKAP5_ENST00000317721.6_Missense_Mutation_p.T1436A|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1436										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GTTTCAAAAGTGCTTGGATGC	0.572																																					p.T1436A		.											.	.	0			c.A4306G						.						49.0	49.0	49.0					2																	133540078		1948	4138	6086	SO:0001583	missense	344148	exon14			CAAAAGTGCTTGG	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4306A>G	2.37:g.133540078T>C	ENSP00000387128:p.Thr1436Ala	92	0		94	10	NM_207363	0	0	0	0	0	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	T	0.423	-0.907487	0.02434	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.09073	3.02;3.02	5.42	-3.35	0.04928	.	0.882556	0.09280	U	0.823808	T	0.02807	0.0084	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.46952	-0.9154	10	0.10902	T	0.67	.	2.4907	0.04609	0.1128:0.2826:0.116:0.4886	.	1436	O14513	NCKP5_HUMAN	A	1436	ENSP00000387128:T1436A;ENSP00000380603:T1436A	ENSP00000380603:T1436A	T	-	1	0	NCKAP5	133256548	0.000000	0.05858	0.000000	0.03702	0.329000	0.28539	0.043000	0.13971	-0.362000	0.08113	-0.438000	0.05819	ACT	.		0.572	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481	
GTDC1	79712	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	144764748	144764748	+	Splice_Site	SNP	C	C	A	rs199607709		TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr2:144764748C>A	ENST00000392869.2	-	6	1028		c.e6+1		GTDC1_ENST00000241391.5_Splice_Site|GTDC1_ENST00000409298.1_Intron|GTDC1_ENST00000344850.4_Splice_Site|GTDC1_ENST00000392867.3_Splice_Site|GTDC1_ENST00000409214.1_Splice_Site|GTDC1_ENST00000463875.2_Splice_Site|GTDC1_ENST00000542155.1_Splice_Site	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1						biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		CCTTGACTTACCACCTGTGAG	0.353																																					.		.											.	GTDC1-91	0			c.875+1G>T						.						79.0	72.0	75.0					2																	144764748		2203	4300	6503	SO:0001630	splice_region_variant	79712	exon8			GACTTACCACCTG	AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"""Glycosyltransferase group 1 domain containing"""	20887	protein-coding gene	gene with protein product	"""mannosyltransferase-like"""	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.875+1G>T	2.37:g.144764748C>A		122	1		130	61	NM_001164629	0	0	0	0	0	A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Splice_Site	SNP	ENST00000392869.2	37	CCDS33300.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712310	0.89112	.	.	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000392867;ENST00000542155;ENST00000241391;ENST00000344850;ENST00000463875	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1253	0.97977	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GTDC1	144481218	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.634000	0.67833	2.832000	0.97577	0.655000	0.94253	.	.		0.353	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659	Intron
XIRP2	129446	broad.mit.edu	37	2	168098406	168098406	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr2:168098406G>T	ENST00000409728.1	+	9	1350	c.1261G>T	c.(1261-1263)Gcc>Tcc	p.A421S	XIRP2_ENST00000409605.1_Missense_Mutation_p.A166S|XIRP2_ENST00000409195.1_Missense_Mutation_p.A388S|XIRP2_ENST00000409043.1_Missense_Mutation_p.A388S|XIRP2_ENST00000295237.9_Missense_Mutation_p.A388S|XIRP2_ENST00000409273.1_Missense_Mutation_p.A166S|XIRP2_ENST00000409756.2_Missense_Mutation_p.A388S|XIRP2_ENST00000420519.1_Missense_Mutation_p.A421S	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	213					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						GACAACCCCAGCCAAGCAGAT	0.353																																					p.A421S		.											.	XIRP2-104	0			c.G1261T						.						112.0	106.0	108.0					2																	168098406		1836	4085	5921	SO:0001583	missense	129446	exon9			ACCCCAGCCAAGC	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	ENST00000409728.1:c.1261G>T	2.37:g.168098406G>T	ENSP00000386619:p.Ala421Ser	47	0		51	4	NM_001199143	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	ENST00000409728.1	37	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.642931	0.67244	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237;ENST00000409273;ENST00000409605	T;T;T;T;T;T;T;T	0.78481	-1.16;-1.16;3.81;-1.16;-1.16;3.81;3.84;-1.18	5.27	2.43	0.29744	.	0.546336	0.20468	N	0.091747	T	0.73249	0.3563	L	0.50333	1.59	0.33924	D	0.641261	B;P;B;B;B	0.46784	0.423;0.884;0.378;0.173;0.141	B;P;B;B;B	0.46253	0.098;0.509;0.109;0.056;0.041	T	0.76208	-0.3043	10	0.32370	T	0.25	-0.8313	9.9078	0.41386	0.228:0.0:0.7719:0.0	.	213;388;421;213;166	A4UGR9;A4UGR9-4;A4UGR9-6;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.;.;.	S	388;421;388;388;421;388;166;166	ENSP00000386454:A388S;ENSP00000386619:A421S;ENSP00000386840:A388S;ENSP00000386724:A388S;ENSP00000415541:A421S;ENSP00000295237:A388S;ENSP00000387255:A166S;ENSP00000386981:A166S	ENSP00000295237:A388S	A	+	1	0	XIRP2	167806652	1.000000	0.71417	0.995000	0.50966	0.947000	0.59692	1.562000	0.36353	0.723000	0.32274	0.591000	0.81541	GCC	.		0.353	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381	
KIF1A	547	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	241728660	241728660	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr2:241728660T>A	ENST00000320389.7	-	3	334	c.176A>T	c.(175-177)cAc>cTc	p.H59L	KIF1A_ENST00000498729.2_Missense_Mutation_p.H59L	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	59	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TACTGAGGTGTGCGACCAGTA	0.612																																					p.H59L		.											.	KIF1A-91	0			c.A176T						.						62.0	72.0	68.0					2																	241728660		2162	4286	6448	SO:0001583	missense	547	exon3			GAGGTGTGCGACC	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.176A>T	2.37:g.241728660T>A	ENSP00000322791:p.His59Leu	97	0		129	28	NM_001244008	0	0	0	0	0	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.609305	0.87258	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	D;D;D	0.88277	-2.36;-2.36;-2.36	4.52	4.52	0.55395	Kinesin, motor domain (4);	0.000000	0.85682	U	0.000000	D	0.91405	0.7288	L	0.58810	1.83	0.80722	D	1	D;D;D	0.76494	0.975;0.999;0.985	P;D;P	0.65323	0.774;0.934;0.814	D	0.89205	0.3560	10	0.22109	T	0.4	.	12.8272	0.57726	0.0:0.0:0.0:1.0	.	59;59;59	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	L	59	ENSP00000322791:H59L;ENSP00000438388:H59L;ENSP00000384231:H59L	ENSP00000322791:H59L	H	-	2	0	KIF1A	241377333	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.803000	0.85983	1.682000	0.51000	0.379000	0.24179	CAC	.		0.612	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483	
SNED1	25992	hgsc.bcm.edu	37	2	242011084	242011084	+	Missense_Mutation	SNP	T	T	C	rs17440466	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr2:242011084T>C	ENST00000310397.8	+	25	3683	c.3683T>C	c.(3682-3684)cTg>cCg	p.L1228P	MTERFD2_ENST00000464344.2_5'Flank|SNED1_ENST00000342631.6_Missense_Mutation_p.L1228P|SNED1_ENST00000401884.1_Missense_Mutation_p.L1228P|SNED1_ENST00000405547.3_Missense_Mutation_p.L1228P	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1228			L -> P (in dbSNP:rs17440466).		cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CTGCCGGAGCTGCGCCTGCTC	0.726													T|||	550	0.109824	0.0227	0.0821	5008	,	,		7723	0.1885		0.171	False		,,,				2504	0.1033				p.L1228P		.											.	SNED1-72	0			c.T3683C						.	T	PRO/LEU	148,3636		7,134,1751	5.0	6.0	6.0		3683	4.4	1.0	2	dbSNP_123	6	1058,6892		57,944,2974	no	missense	SNED1	NM_001080437.1	98	64,1078,4725	CC,CT,TT		13.3082,3.9112,10.2778	probably-damaging	1228/1414	242011084	1206,10528	1892	3975	5867	SO:0001583	missense	25992	exon25			CGGAGCTGCGCCT	AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.3683T>C	2.37:g.242011084T>C	ENSP00000308893:p.Leu1228Pro	4	0		17	6	NM_001080437	0	0	6	6	0	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	ENST00000310397.8	37	CCDS46562.1	255	0.11675824175824176	17	0.034552845528455285	27	0.07458563535911603	105	0.18356643356643357	106	0.13984168865435356	T	13.43	2.236189	0.39498	0.039112	0.133082	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	D;D;D;D	0.83992	-1.72;-1.79;-1.76;-1.72	4.36	4.36	0.52297	.	0.000000	0.34025	N	0.004340	T	0.01156	0.0038	M	0.67953	2.075	0.09310	P	0.99999566469	D;D;D;D	0.76494	0.992;0.996;0.999;0.96	P;D;D;P	0.83275	0.857;0.918;0.996;0.613	T	0.33904	-0.9850	9	0.37606	T	0.19	.	11.3537	0.49602	0.0:0.0:0.0:1.0	rs17440466;rs17440466	1228;1228;1228;1228	Q8TER0-3;Q8TER0-5;B5MEF5;Q8TER0	.;.;.;SNED1_HUMAN	P	1228	ENSP00000384871:L1228P;ENSP00000386007:L1228P;ENSP00000308893:L1228P;ENSP00000342992:L1228P	ENSP00000308893:L1228P	L	+	2	0	SNED1	241659757	1.000000	0.71417	1.000000	0.80357	0.091000	0.18340	1.160000	0.31761	1.727000	0.51537	0.383000	0.25322	CTG	T|0.877;C|0.123		0.726	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482	
RNF24	11237	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	3954983	3954983	+	Intron	SNP	C	C	A			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr20:3954983C>A	ENST00000336095.6	-	2	245				RNF24_ENST00000432261.2_Missense_Mutation_p.G18W|RNF24_ENST00000545616.2_Missense_Mutation_p.G18W|RNF24_ENST00000358395.6_Intron	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN	ring finger protein 24							Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			large_intestine(1)|upper_aerodigestive_tract(1)	2						acttacccccctaagaccggg	0.378																																					p.G18W		.											.	RNF24-226	0			c.G52T						.						73.0	67.0	69.0					20																	3954983		692	1591	2283	SO:0001627	intron_variant	11237	exon2			ACCCCCCTAAGAC	AF151081	CCDS13074.1, CCDS46577.1	20p13	2013-01-09			ENSG00000101236	ENSG00000101236		"""RING-type (C3HC4) zinc fingers"""	13779	protein-coding gene	gene with protein product		612489					Standard	NM_007219		Approved	G1L	uc002wki.2	Q9Y225	OTTHUMG00000031770	ENST00000336095.6:c.7-10312G>T	20.37:g.3954983C>A		56	0		49	10	NM_001134338	0	0	0	0	0	D3DVZ2|D3DVZ3|Q9UMH1	Missense_Mutation	SNP	ENST00000336095.6	37	CCDS13074.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.557581	0.27827	.	.	ENSG00000101236	ENST00000545616;ENST00000432261	T;T	0.37584	1.19;1.19	0.149	0.149	0.14863	.	.	.	.	.	T	0.51719	0.1691	.	.	.	0.22226	N	0.999278	D	0.76494	0.999	D	0.74674	0.984	T	0.35351	-0.9792	7	0.66056	D	0.02	.	.	.	.	.	18	Q9Y225-2	.	W	18	ENSP00000444711:G18W;ENSP00000388550:G18W	ENSP00000388550:G18W	G	-	1	0	RNF24	3902983	0.990000	0.36364	0.935000	0.37517	0.936000	0.57629	0.281000	0.18810	0.192000	0.20272	0.195000	0.17529	GGG	.		0.378	RNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077795.2		
FAM182A	284800	broad.mit.edu	37	20	26061817	26061817	+	RNA	SNP	T	T	C			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr20:26061817T>C	ENST00000376398.2	+	0	837					NR_026713.1		Q5T1J6	F182A_HUMAN	family with sequence similarity 182, member A									p.C57R(2)		breast(1)|endometrium(2)|kidney(1)	4						TGATTTCTCCTGCTTAGAAAT	0.468																																					.		.											.	.	2	Substitution - Missense(2)	endometrium(2)	.						.																																					284800	.			TTCTCCTGCTTAG	AL391119		20p11	2013-03-18	2008-08-05	2008-08-05	ENSG00000125804	ENSG00000125804			16222	other	unknown			"""chromosome 20 open reading frame 91"""	C20orf91			Standard	NR_026713		Approved	bB329D4.1, C20orf91A	uc010gdq.3	Q5T1J6	OTTHUMG00000032144		20.37:g.26061817T>C		84	1		63	3	.	0	0	0	0	0	A2RRD0|Q8N947	RNA	SNP	ENST00000376398.2	37		.	.	.	.	.	.	.	.	.	.	N	8.475	0.858516	0.17178	.	.	ENSG00000125804	ENST00000376398;ENST00000246000	.	.	.	0.368	0.368	0.16146	.	.	.	.	.	T	0.48624	0.1510	.	.	.	0.31219	N	0.697674	.	.	.	.	.	.	T	0.56932	-0.7897	4	0.87932	D	0	.	.	.	.	.	.	.	.	R	57	.	ENSP00000246000:C57R	C	+	1	0	FAM182A	26009817	1.000000	0.71417	0.456000	0.27044	0.471000	0.32888	0.691000	0.25467	0.379000	0.24794	0.104000	0.15600	TGC	.		0.468	FAM182A-001	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000078473.2		
TPX2	22974	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	30388862	30388862	+	Silent	SNP	C	C	T			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr20:30388862C>T	ENST00000300403.6	+	18	2751	c.2223C>T	c.(2221-2223)ttC>ttT	p.F741F	TPX2_ENST00000340513.4_Silent_p.F777F	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	741					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			CTCCCAAATTCTCCACTCGAT	0.502																																					p.F741F		.											.	TPX2-290	0			c.C2223T						.						151.0	129.0	137.0					20																	30388862		2203	4300	6503	SO:0001819	synonymous_variant	22974	exon18			CAAATTCTCCACT	AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"""chromosome 20 open reading frame 1"", ""TPX2, microtubule-associated, homolog (Xenopus laevis)"""	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.2223C>T	20.37:g.30388862C>T		225	0		186	45	NM_012112	0	0	32	43	11	Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Silent	SNP	ENST00000300403.6	37	CCDS13190.1																																																																																			.		0.502	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2		
WISP2	8839	hgsc.bcm.edu	37	20	43348735	43348735	+	Silent	SNP	C	C	A	rs2296530	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr20:43348735C>A	ENST00000372868.2	+	3	601	c.258C>A	c.(256-258)ggC>ggA	p.G86G	WISP2_ENST00000190983.4_Silent_p.G86G|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000372865.4_Silent_p.G86G|RP11-445H22.4_ENST00000427303.1_RNA|RP11-445H22.4_ENST00000445420.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	86	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				skin(1)	1		Myeloproliferative disorder(115;0.0122)				GACCCGGTGGCCGGGGGGCCC	0.706													C|||	1984	0.396166	0.4803	0.4452	5008	,	,		15685	0.3909		0.339	False		,,,				2504	0.3119				p.G86G		.											.	WISP2-130	0			c.C258A						.	C		1905,2317		492,921,698	5.0	5.0	5.0		258	5.5	0.1	20	dbSNP_100	5	2588,5598		519,1550,2024	no	coding-synonymous	WISP2	NM_003881.2		1011,2471,2722	AA,AC,CC		31.615,45.1208,36.2105		86/251	43348735	4493,7915	2111	4093	6204	SO:0001819	synonymous_variant	8839	exon2			CGGTGGCCGGGGG	AF100780	CCDS13336.1	20q13.12	2007-05-14			ENSG00000064205	ENSG00000064205			12770	protein-coding gene	gene with protein product		603399				9843955	Standard	NM_003881		Approved	CT58, CTGF-L, CCN5	uc002xmp.3	O76076	OTTHUMG00000033071	ENST00000372868.2:c.258C>A	20.37:g.43348735C>A		2	0		6	4	NM_003881	0	0	7	19	12	B2R9N4|E1P612|Q6PEG3	Silent	SNP	ENST00000372868.2	37	CCDS13336.1																																																																																			C|0.615;A|0.385		0.706	WISP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127824.1	NM_003881	
PABPC1L	80336	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	43550237	43550237	+	Silent	SNP	C	C	T	rs556604143		TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr20:43550237C>T	ENST00000217073.2	+	6	741	c.741C>T	c.(739-741)gcC>gcT	p.A247A	PABPC1L_ENST00000255136.3_Silent_p.A247A|PABPC1L_ENST00000537323.1_Silent_p.A247A|PABPC1L_ENST00000217074.4_Silent_p.A247A			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	247	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						TTCCCCAGGCCGTGGTCCATA	0.622																																					p.A247A		.											.	PABPC1L-47	0			c.C741T						.						102.0	101.0	101.0					20																	43550237		1568	3582	5150	SO:0001819	synonymous_variant	80336	exon6			CCAGGCCGTGGTC	AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"""RNA binding motif (RRM) containing"""	15797	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 119"""	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.741C>T	20.37:g.43550237C>T		157	0		143	55	NM_001124756	0	0	0	0	0	Q4VY17	Silent	SNP	ENST00000217073.2	37	CCDS42878.1																																																																																			.		0.622	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2		
LAMA5	3911	broad.mit.edu	37	20	60895706	60895706	+	Missense_Mutation	SNP	A	A	C			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr20:60895706A>C	ENST00000252999.3	-	50	6734	c.6668T>G	c.(6667-6669)cTg>cGg	p.L2223R		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2223	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)	p.L2223R(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GCGGGGGCCCAGGGGGCTCCG	0.706																																					p.L2223R		.											.	LAMA5-93	1	Substitution - Missense(1)	kidney(1)	c.T6668G						.																																			SO:0001583	missense	3911	exon50			GGGCCCAGGGGGC	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.6668T>G	20.37:g.60895706A>C	ENSP00000252999:p.Leu2223Arg	34	1		44	16	NM_005560	0	0	0	0	0	Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	-	1.825	-0.471240	0.04445	.	.	ENSG00000130702	ENST00000252999	T	0.10860	2.83	4.01	-3.35	0.04928	Laminin I (1);	1.233460	0.05846	U	0.620293	T	0.06781	0.0173	L	0.29908	0.895	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.43278	-0.9401	10	0.13470	T	0.59	.	6.2822	0.21013	0.5127:0.1317:0.3557:0.0	.	2223	O15230	LAMA5_HUMAN	R	2223	ENSP00000252999:L2223R	ENSP00000252999:L2223R	L	-	2	0	LAMA5	60329101	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	-2.320000	0.01119	-0.781000	0.04548	-0.402000	0.06365	CTG	.		0.706	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560	
HELZ2	85441	hgsc.bcm.edu	37	20	62194713	62194713	+	Missense_Mutation	SNP	A	A	C	rs3810486	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr20:62194713A>C	ENST00000467148.1	-	8	5531	c.5462T>G	c.(5461-5463)cTg>cGg	p.L1821R	HELZ2_ENST00000427522.2_Missense_Mutation_p.L1252R	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1821			L -> R (in dbSNP:rs3810486).		cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CTCCACGGCCAGGGTGTGTGG	0.726													C|||	1226	0.244808	0.0575	0.1023	5008	,	,		15371	0.5923		0.1948	False		,,,				2504	0.2924				p.L1821R		.											.	.	0			c.T5462G						.	C	ARG/LEU,ARG/LEU	196,3498		4,188,1655	3.0	3.0	3.0		5462,3755	-2.5	0.0	20	dbSNP_107	3	895,6669		51,793,2938	no	missense,missense	PRIC285	NM_001037335.2,NM_033405.3	102,102	55,981,4593	CC,CA,AA		11.8324,5.3059,9.6909	benign,benign	1821/2650,1252/2081	62194713	1091,10167	1847	3782	5629	SO:0001583	missense	85441	exon9			ACGGCCAGGGTGT	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.5462T>G	20.37:g.62194713A>C	ENSP00000417401:p.Leu1821Arg	4	0		13	8	NM_001037335	0	0	4	8	4	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	CCDS33508.1	575	0.2632783882783883	23	0.046747967479674794	44	0.12154696132596685	352	0.6153846153846154	156	0.20580474934036938	C	7.173	0.588046	0.13812	0.053059	0.118324	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.79033	-1.23;-1.15	4.54	-2.49	0.06403	.	2.710140	0.01204	N	0.007649	T	0.00012	0.0000	N	0.00347	-1.61	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36261	-0.9755	9	0.18710	T	0.47	0.0741	1.1162	0.01714	0.3228:0.32:0.1009:0.2562	rs3810486	1821;1252	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	R	1252;1821	ENSP00000393257:L1252R;ENSP00000417401:L1821R	ENSP00000393257:L1252R	L	-	2	0	RP4-697K14.7	61665157	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.101000	0.15251	-0.351000	0.08249	-0.323000	0.08544	CTG	A|0.739;C|0.261		0.726	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335	
MYT1	4661	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	62839773	62839773	+	Silent	SNP	G	G	T			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr20:62839773G>T	ENST00000328439.1	+	7	1588	c.1224G>T	c.(1222-1224)ctG>ctT	p.L408L	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Silent_p.L408L	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Interaction with PIN1.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGAGCCAGCTGGGCCTGGGAG	0.662																																					p.L408L	GBM(59;481 1041 20555 21139 33705)	.											.	MYT1-704	0			c.G1224T						.						21.0	22.0	22.0					20																	62839773		2202	4296	6498	SO:0001819	synonymous_variant	4661	exon7			CCAGCTGGGCCTG	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1224G>T	20.37:g.62839773G>T		204	0		165	39	NM_004535	0	0	0	0	0	B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	CCDS13558.1																																																																																			.		0.662	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535	
KRTAP13-1	140258	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	31768658	31768658	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr21:31768658C>A	ENST00000355459.2	+	1	267	c.254C>A	c.(253-255)aCc>aAc	p.T85N		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	85	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CGTCCCAGAACCTCCTTGCTC	0.607																																					p.T85N		.											.	KRTAP13-1-91	0			c.C254A						.						68.0	68.0	68.0					21																	31768658		2203	4300	6503	SO:0001583	missense	140258	exon1			CCAGAACCTCCTT	AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"""Keratin associated proteins"""	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.254C>A	21.37:g.31768658C>A	ENSP00000347635:p.Thr85Asn	192	0		129	32	NM_181599	0	0	0	0	0	Q14D20|Q3LI79	Missense_Mutation	SNP	ENST00000355459.2	37	CCDS13590.2	.	.	.	.	.	.	.	.	.	.	C	7.636	0.679936	0.14907	.	.	ENSG00000198390	ENST00000355459	T	0.03413	3.94	4.51	1.02	0.19986	.	1.383020	0.05069	N	0.481294	T	0.12008	0.0292	L	0.52759	1.655	0.09310	N	1	D	0.89917	1.0	D	0.77004	0.989	T	0.29458	-1.0011	10	0.33940	T	0.23	.	6.5072	0.22202	0.0:0.3691:0.4888:0.1421	.	85	Q8IUC0	KR131_HUMAN	N	85	ENSP00000347635:T85N	ENSP00000347635:T85N	T	+	2	0	KRTAP13-1	30690529	0.000000	0.05858	0.004000	0.12327	0.105000	0.19272	-0.964000	0.03833	0.187000	0.20147	0.557000	0.71058	ACC	.		0.607	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128252.3		
SON	6651	ucsc.edu	37	21	34923319	34923319	+	Silent	SNP	A	A	G			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr21:34923319A>G	ENST00000356577.4	+	3	2257	c.1782A>G	c.(1780-1782)ctA>ctG	p.L594L	SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Silent_p.L594L|SON_ENST00000290239.6_Silent_p.L594L|SON_ENST00000381679.4_Silent_p.L594L	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	594					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CTGGGGCACTAGAGTTGCCTG	0.662																																					p.L594L		.											.	SON-97	0			c.A1782G						.						29.0	35.0	33.0					21																	34923319		2201	4295	6496	SO:0001819	synonymous_variant	6651	exon3			GGCACTAGAGTTG	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.1782A>G	21.37:g.34923319A>G		88	0		83	1	NM_032195	0	0	12	12	0	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Silent	SNP	ENST00000356577.4	37	CCDS13629.1																																																																																			.		0.662	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927	
DNMT3L	29947	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	45666395	45666395	+	Missense_Mutation	SNP	T	T	C	rs377689260		TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr21:45666395T>C	ENST00000418993.1	-	12	1529	c.1046A>G	c.(1045-1047)aAc>aGc	p.N349S	DNMT3L_ENST00000270172.3_Missense_Mutation_p.N350S	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	349					chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		GCTCTGCTTGTTCTGGGCCAG	0.552																																					p.N350S		.											.	DNMT3L-228	0			c.A1049G						.						44.0	43.0	43.0					21																	45666395		2203	4300	6503	SO:0001583	missense	29947	exon12			TGCTTGTTCTGGG	AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"""cytosine-5-methyltransferase 3-like protein"", ""human cytosine-5-methyltransferase 3-like protein"""	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.1046A>G	21.37:g.45666395T>C	ENSP00000412862:p.Asn349Ser	116	0		135	35	NM_013369	0	0	0	0	0	E9PB42|Q9BUJ4	Missense_Mutation	SNP	ENST00000418993.1	37	CCDS46650.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.553|4.553	0.102767|0.102767	0.08731|0.08731	.|.	.|.	ENSG00000142182|ENSG00000142182	ENST00000270172;ENST00000418993|ENST00000436357	T;T|.	0.28454|.	1.61;1.61|.	4.17|4.17	1.66|1.66	0.24008|0.24008	.|.	0.635955|.	0.15561|.	N|.	0.255913|.	T|T	0.26085|0.26085	0.0636|0.0636	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B;B|.	0.15719|.	0.014;0.014|.	B;B|.	0.09377|.	0.004;0.004|.	T|T	0.22695|0.22695	-1.0209|-1.0209	10|5	0.22109|.	T|.	0.4|.	-12.5196|-12.5196	3.1276|3.1276	0.06412|0.06412	0.2191:0.1196:0.0:0.6613|0.2191:0.1196:0.0:0.6613	.|.	350;349|.	Q9UJW3-2;Q9UJW3|.	.;DNM3L_HUMAN|.	S|A	350;349|144	ENSP00000270172:N350S;ENSP00000412862:N349S|.	ENSP00000270172:N350S|.	N|T	-|-	2|1	0|0	DNMT3L|DNMT3L	44490823|44490823	0.020000|0.020000	0.18652|0.18652	0.012000|0.012000	0.15200|0.15200	0.131000|0.131000	0.20780|0.20780	0.611000|0.611000	0.24268|0.24268	0.117000|0.117000	0.18138|0.18138	0.533000|0.533000	0.62120|0.62120	AAC|ACA	.		0.552	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195820.1	NM_013369	
TTC28	23331	broad.mit.edu	37	22	28378384	28378384	+	Missense_Mutation	SNP	G	G	C	rs41278845	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr22:28378384G>C	ENST00000397906.2	-	23	7412	c.7271C>G	c.(7270-7272)gCt>gGt	p.A2424G	TTC28-AS1_ENST00000424161.1_RNA|TTC28-AS1_ENST00000419253.1_RNA|TTC28-AS1_ENST00000425112.1_RNA|TTC28-AS1_ENST00000435348.1_RNA|TTC28-AS1_ENST00000430853.1_RNA|TTC28-AS1_ENST00000453632.1_RNA|TTC28-AS1_ENST00000454741.1_RNA|TTC28-AS1_ENST00000454996.1_RNA|TTC28-AS1_ENST00000434221.1_RNA|TTC28-AS1_ENST00000430525.1_RNA|TTC28-AS1_ENST00000452612.1_RNA|TTC28-AS1_ENST00000417497.1_RNA	NM_001145418.1	NP_001138890.1	Q96AY4	TTC28_HUMAN	tetratricopeptide repeat domain 28	2424					mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle (GO:0007346)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)	12						TTTCGGTGGAGCTCCGTCATG	0.642													G|||	79	0.0157748	0.0015	0.0259	5008	,	,		14166	0.0		0.0517	False		,,,				2504	0.0072				p.A2424G		.											.	.	0			c.C7271G						.	G	GLY/ALA	12,1372		0,12,680	65.0	70.0	68.0		7271	0.2	0.0	22	dbSNP_127	68	192,2990		7,178,1406	yes	missense	TTC28	NM_001145418.1	60	7,190,2086	CC,CG,GG		6.0339,0.8671,4.4678	benign	2424/2482	28378384	204,4362	692	1591	2283	SO:0001583	missense	23331	exon23			GGTGGAGCTCCGT	AB028966	CCDS46678.1	22q12.1	2013-01-10			ENSG00000100154	ENSG00000100154		"""Tetratricopeptide (TTC) repeat domain containing"""	29179	protein-coding gene	gene with protein product		615098				10470851	Standard	NM_001145418		Approved	KIAA1043	uc003adp.4	Q96AY4	OTTHUMG00000151006	ENST00000397906.2:c.7271C>G	22.37:g.28378384G>C	ENSP00000381003:p.Ala2424Gly	81	0		68	3	NM_001145418	0	0	3	3	0	K7ZRV2|O95928|O95929|Q5W189|Q9NTE4|Q9UG31|Q9UGG5|Q9UPV8|Q9Y3S5	Missense_Mutation	SNP	ENST00000397906.2	37	CCDS46678.1	49	0.022435897435897436	1	0.0020325203252032522	7	0.019337016574585635	0	0.0	41	0.05408970976253298	G	0.807	-0.753278	0.03041	0.008671	0.060339	ENSG00000100154	ENST00000397906	D	0.87966	-2.32	4.99	0.179	0.15063	.	0.888191	0.09809	N	0.752972	T	0.26882	0.0658	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	10	0.31617	T	0.26	-0.1023	5.7923	0.18367	0.2533:0.1378:0.6089:0.0	rs41278845;rs61744145	2424	Q96AY4	TTC28_HUMAN	G	2424	ENSP00000381003:A2424G	ENSP00000381003:A2424G	A	-	2	0	TTC28	26708384	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.282000	0.18829	-0.066000	0.12998	0.655000	0.94253	GCT	G|0.948;C|0.052		0.642	TTC28-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000320930.2	XM_929318	
NEFH	4744	hgsc.bcm.edu	37	22	29885581	29885604	+	In_Frame_Del	DEL	AGGCCAAGTCCCCAGAGAAGGAAG	AGGCCAAGTCCCCAGAGAAGGAAG	-	rs267607534|rs373980795|rs267607533|rs149571560|rs79235463|rs200984527|rs370803228	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	AGGCCAAGTCCCCAGAGAAGGAAG	AGGCCAAGTCCCCAGAGAAGGAAG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr22:29885581_29885604delAGGCCAAGTCCCCAGAGAAGGAAG	ENST00000310624.6	+	4	1985_2008	c.1952_1975delAGGCCAAGTCCCCAGAGAAGGAAG	c.(1951-1977)aaggccaagtccccagagaaggaagag>aag	p.AKSPEKEE652del		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	658	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.			Missing (in Ref. 1; CAA33366 and 5; AC000035). {ECO:0000305}.	axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TCCCCTGAGAAGGCCAAGTCCCCAGAGAAGGAAGAGGCCAAGTC	0.562																																					p.651_659del		.											.	NEFH-90	0			c.1952_1975del						.																																			SO:0001651	inframe_deletion	4744	exon4			CTGAGAAGGCCAA		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1952_1975delAGGCCAAGTCCCCAGAGAAGGAAG	22.37:g.29885581_29885604delAGGCCAAGTCCCCAGAGAAGGAAG	ENSP00000311997:p.Ala652_Glu659del	174	0		118	45	NM_021076	0	0	0	0	0	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Del	DEL	ENST00000310624.6	37	CCDS13858.1																																																																																			.		0.562	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076	
PLA2G3	50487	bcgsc.ca	37	22	31532960	31532960	+	Missense_Mutation	SNP	C	C	T	rs2232183	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr22:31532960C>T	ENST00000215885.3	-	5	1385	c.1133G>A	c.(1132-1134)cGg>cAg	p.R378Q		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	378			R -> Q (in dbSNP:rs2232183).		acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						CTCGATTTCCCGGGGCCCAAT	0.662													T|||	670	0.133786	0.0772	0.1657	5008	,	,		17246	0.0238		0.2505	False		,,,				2504	0.181				p.R378Q		.											.	PLA2G3-226	0			c.G1133A						.	T	GLN/ARG	460,3934		30,400,1767	36.0	36.0	36.0		1133	2.3	1.0	22	dbSNP_98	36	2196,6386		287,1622,2382	yes	missense	PLA2G3	NM_015715.3	43	317,2022,4149	TT,TC,CC		25.5884,10.4688,20.4686	benign	378/510	31532960	2656,10320	2197	4291	6488	SO:0001583	missense	50487	exon5			ATTTCCCGGGGCC	AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.1133G>A	22.37:g.31532960C>T	ENSP00000215885:p.Arg378Gln	165	1		177	6	NM_015715	0	0	0	0	0	O95768	Missense_Mutation	SNP	ENST00000215885.3	37	CCDS13889.1	321	0.14697802197802198	42	0.08536585365853659	72	0.19889502762430938	17	0.02972027972027972	190	0.25065963060686014	T	2.164	-0.391533	0.04932	0.104688	0.255884	ENSG00000100078	ENST00000215885	T	0.28255	1.62	5.62	2.33	0.28932	Phospholipase A2 (2);	0.413631	0.24370	N	0.039117	T	0.00012	0.0000	N	0.00358	-1.6	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.42481	-0.9449	9	0.02654	T	1	-0.8315	8.7555	0.34643	0.0:0.2921:0.0:0.7079	rs2232183;rs17760495;rs52823364;rs57463724;rs2232183	378	Q9NZ20	PA2G3_HUMAN	Q	378	ENSP00000215885:R378Q	ENSP00000215885:R378Q	R	-	2	0	PLA2G3	29862960	0.072000	0.21174	0.993000	0.49108	0.312000	0.27988	0.110000	0.15437	0.111000	0.17947	-1.062000	0.02293	CGG	C|0.845;T|0.155		0.662	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1	NM_015715	
A4GALT	53947	ucsc.edu;bcgsc.ca	37	22	43089055	43089055	+	Silent	SNP	G	G	C	rs6002904	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr22:43089055G>C	ENST00000401850.1	-	2	1392	c.903C>G	c.(901-903)ccC>ccG	p.P301P	A4GALT_ENST00000381278.3_Silent_p.P301P|A4GALT_ENST00000465765.2_5'Flank|A4GALT_ENST00000249005.2_Silent_p.P301P			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	301					globoside biosynthetic process (GO:0001576)|glycosphingolipid biosynthetic process (GO:0006688)|plasma membrane organization (GO:0007009)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	galactosyltransferase activity (GO:0008378)|lactosylceramide 4-alpha-galactosyltransferase activity (GO:0050512)|toxic substance binding (GO:0015643)			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						GCAGCTCCTCGGGGTTGATGT	0.662													G|||	3482	0.695288	0.8608	0.6052	5008	,	,		16794	0.7063		0.5915	False		,,,				2504	0.6309				p.P301P		.											.	A4GALT-90	0			c.C903G	GRCh37	CD045904	A4GALT	D	rs6002904	.	G		3610,794	747.2+/-411.8	1487,636,79	65.0	53.0	57.0		903	0.5	0.9	22	dbSNP_114	57	4885,3715	616.0+/-396.4	1371,2143,786	no	coding-synonymous	A4GALT	NM_017436.4		2858,2779,865	CC,CG,GG		43.1977,18.0291,34.6739		301/354	43089055	8495,4509	2202	4300	6502	SO:0001819	synonymous_variant	53947	exon3			CTCCTCGGGGTTG		CCDS14041.1	22q13.2	2014-07-18	2008-07-31		ENSG00000128274	ENSG00000128274	2.4.1.228		18149	protein-coding gene	gene with protein product	"""Gb3 synthase"", ""CD77 synthase"", ""globotriaosylceramide synthase"", ""lactosylceramide 4-alpha-galactosyltransferase"""	607922	"""alpha 1,4-galactosyltransferase (globotriaosylceramide synthase, P blood group)"""			10854428	Standard	XM_005261643		Approved	A14GALT, Gb3S, P(k)	uc003bdb.3	Q9NPC4	OTTHUMG00000150744	ENST00000401850.1:c.903C>G	22.37:g.43089055G>C		85	0		37	4	NM_017436	0	0	4	4	0	B2R7C4|Q9P1X5	Silent	SNP	ENST00000401850.1	37	CCDS14041.1																																																																																			G|0.333;C|0.667		0.662	A4GALT-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319917.1	NM_017436	
ARFGAP3	26286	ucsc.edu;bcgsc.ca	37	22	43203137	43203137	+	Silent	SNP	C	C	T	rs738535	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr22:43203137C>T	ENST00000263245.5	-	14	1572	c.1353G>A	c.(1351-1353)tcG>tcA	p.S451S	ARFGAP3_ENST00000429508.2_Silent_p.S379S|ARFGAP3_ENST00000437119.2_Silent_p.S407S	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	451					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						AGGAACTTGCCGACAGCCTCT	0.522													C|||	1553	0.310104	0.289	0.366	5008	,	,		17906	0.0853		0.4364	False		,,,				2504	0.4008				p.S451S	GBM(58;544 1030 21460 27159 48838)	.											.	ARFGAP3-153	0			c.G1353A						.	C	,	1535,2871	481.0+/-359.0	273,989,941	41.0	35.0	37.0		1221,1353	-6.2	0.0	22	dbSNP_86	37	3892,4708	533.8+/-382.5	907,2078,1315	no	coding-synonymous,coding-synonymous	ARFGAP3	NM_001142293.1,NM_014570.4	,	1180,3067,2256	TT,TC,CC		45.2558,34.8389,41.7269	,	407/473,451/517	43203137	5427,7579	2203	4300	6503	SO:0001819	synonymous_variant	26286	exon14			ACTTGCCGACAGC	AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"""ADP-ribosylation factor GTPase activating proteins"""	661	protein-coding gene	gene with protein product		612439	"""ADP-ribosylation factor GTPase activating protein 1"""	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.1353G>A	22.37:g.43203137C>T		114	1		55	5	NM_014570	0	0	70	70	0	E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Silent	SNP	ENST00000263245.5	37	CCDS14042.1	651	0.2980769230769231	145	0.29471544715447157	149	0.4116022099447514	36	0.06293706293706294	321	0.4234828496042216	C	0.050	-1.253780	0.01457	0.348389	0.452558	ENSG00000242247	ENST00000453516	.	.	.	4.94	-6.15	0.02105	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.20403	P	0.9999019985	.	.	.	.	.	.	T	0.48801	-0.9003	3	.	.	.	-8.7248	1.6031	0.02679	0.3155:0.3219:0.2148:0.1478	rs738535;rs1044700;rs3171717;rs17405155;rs17409171;rs17849916;rs60500703;rs738535	.	.	.	S	254	.	.	G	-	1	0	ARFGAP3	41533081	0.156000	0.22821	0.015000	0.15790	0.006000	0.05464	-0.630000	0.05502	-0.428000	0.07339	-0.923000	0.02734	GGC	C|0.641;T|0.359		0.522	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2	NM_014570	
LDOC1L	84247	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	44893294	44893294	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr22:44893294G>A	ENST00000341255.3	-	2	652	c.143C>T	c.(142-144)gCg>gTg	p.A48V		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	48										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		GGCCTTCTCCGCCCGCAGGGT	0.642																																					p.A48V		.											.	LDOC1L-69	0			c.C143T						.						37.0	33.0	34.0					22																	44893294		2202	4300	6502	SO:0001583	missense	84247	exon2			TTCTCCGCCCGCA	CR456439	CCDS33662.1	22q13.3	2006-09-06			ENSG00000188636	ENSG00000188636			13343	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_032287		Approved	dJ1033E15.2, DKFZp761O17121, Mart6, Mar6	uc003beu.1	Q6ICC9	OTTHUMG00000150465	ENST00000341255.3:c.143C>T	22.37:g.44893294G>A	ENSP00000340434:p.Ala48Val	85	0		35	31	NM_032287	1	0	0	6	5	Q6ZTR1	Missense_Mutation	SNP	ENST00000341255.3	37	CCDS33662.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656262	0.67586	.	.	ENSG00000188636	ENST00000341255	T	0.20200	2.09	3.1	3.1	0.35709	.	0.566220	0.13380	N	0.392205	T	0.19805	0.0476	N	0.08118	0	0.29307	N	0.868281	D	0.71674	0.998	P	0.60345	0.873	T	0.05971	-1.0853	10	0.30854	T	0.27	-13.001	9.945	0.41602	0.0:0.0:1.0:0.0	.	48	Q6ICC9	LDOCL_HUMAN	V	48	ENSP00000340434:A48V	ENSP00000340434:A48V	A	-	2	0	LDOC1L	43271958	0.479000	0.25925	0.811000	0.32455	0.946000	0.59487	2.302000	0.43637	2.051000	0.60960	0.467000	0.42956	GCG	.		0.642	LDOC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318222.1	NM_032287	
CTNNB1	1499	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	41266136	41266136	+	Missense_Mutation	SNP	T	T	C	rs121913407		TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr3:41266136T>C	ENST00000349496.5	+	3	413	c.133T>C	c.(133-135)Tct>Cct	p.S45P	CTNNB1_ENST00000396183.3_Missense_Mutation_p.S45P|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S45P|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S45P|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S38P	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	45			Missing (in colorectal cancer). {ECO:0000269|PubMed:9065402}.|S -> F (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|S -> P (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S45P(168)|p.A5_A80del(53)|p.S45del(50)|p.S45A(11)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.D32_S47del(2)|p.P44_S45del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.S45_G48del(1)|p.Q28_Q61del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.S45_L46del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.P44_N51del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.T42_G48del(1)|p.S45_D58del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.T40_L46del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.S45E(1)|p.M8_A80del(1)|p.A5_E54del(1)|p.S45T(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.A20_S111del(1)|p.T42_K49>Q(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CACAGCTCCTTCTCTGAGTGG	0.502		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												p.S45P	Colon(6;3 56 14213 18255)	.		Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	.	CTNNB1-24361	355	Substitution - Missense(181)|Deletion - In frame(149)|Complex - deletion inframe(18)|Unknown(7)	liver(151)|kidney(53)|soft_tissue(47)|large_intestine(37)|adrenal_gland(28)|endometrium(9)|stomach(7)|skin(6)|pituitary(3)|prostate(3)|thyroid(2)|small_intestine(2)|bone(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)	c.T133C						.						84.0	74.0	78.0					3																	41266136		2203	4300	6503	SO:0001583	missense	1499	exon3	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	GCTCCTTCTCTGA	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.133T>C	3.37:g.41266136T>C	ENSP00000344456:p.Ser45Pro	246	0		155	81	NM_001098209	0	0	127	362	235	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.440246	0.83993	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.65903	0.2736	M	0.65677	2.01	0.80722	D	1	D	0.60575	0.988	P	0.62649	0.905	T	0.69083	-0.5239	10	0.87932	D	0	-13.6823	16.3453	0.83126	0.0:0.0:0.0:1.0	.	45	P35222	CTNB1_HUMAN	P	38;45;45;45;45;38;45;45;45	ENSP00000400508:S38P;ENSP00000385604:S45P;ENSP00000412219:S45P;ENSP00000379486:S45P;ENSP00000344456:S45P;ENSP00000411226:S38P;ENSP00000379488:S45P;ENSP00000409302:S45P;ENSP00000401599:S45P	ENSP00000344456:S45P	S	+	1	0	CTNNB1	41241140	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.261000	0.74972	0.533000	0.62120	TCT	.		0.502	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	
VIPR1	7433	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	42577654	42577654	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr3:42577654C>T	ENST00000325123.4	+	13	1368	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W	VIPR1-AS1_ENST00000610022.1_RNA|VIPR1_ENST00000433647.1_Missense_Mutation_p.R378W|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1-AS1_ENST00000608869.1_RNA|VIPR1_ENST00000543411.1_Missense_Mutation_p.R371W|VIPR1_ENST00000438259.2_Missense_Mutation_p.R209W	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	419					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|muscle contraction (GO:0006936)|positive regulation of cell proliferation (GO:0008284)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CCCCAAATACCGGCACCCGTC	0.697																																					p.R419W		.											.	VIPR1-91	0			c.C1255T						.						18.0	21.0	20.0					3																	42577654		2189	4293	6482	SO:0001583	missense	7433	exon13			AAATACCGGCACC	AH005329	CCDS2698.1, CCDS58827.1, CCDS58828.1, CCDS58829.1	3p22	2012-08-10			ENSG00000114812	ENSG00000114812		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12694	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 1"""	192321				7708752	Standard	NM_004624		Approved	VPAC1, RDC1, HVR1, VPAC1R	uc003clf.2	P32241	OTTHUMG00000131792	ENST00000325123.4:c.1255C>T	3.37:g.42577654C>T	ENSP00000327246:p.Arg419Trp	174	0		241	74	NM_004624	0	0	0	0	0	A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6	Missense_Mutation	SNP	ENST00000325123.4	37	CCDS2698.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.788953	0.70337	.	.	ENSG00000114812	ENST00000433647;ENST00000543411;ENST00000438259;ENST00000325123	T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79	5.01	4.11	0.48088	.	0.208186	0.42053	D	0.000763	T	0.73713	0.3622	L	0.43152	1.355	0.30315	N	0.788102	P;D;D;P	0.69078	0.914;0.997;0.983;0.914	B;P;P;B	0.49502	0.28;0.613;0.491;0.28	T	0.75266	-0.3378	10	0.66056	D	0.02	.	15.2102	0.73219	0.0:0.8584:0.1416:0.0	.	392;209;371;419	B4DNY6;B4DEB5;F5H1F5;P32241	.;.;.;VIPR1_HUMAN	W	378;371;209;419	ENSP00000394950:R378W;ENSP00000445701:R371W;ENSP00000415371:R209W;ENSP00000327246:R419W	ENSP00000327246:R419W	R	+	1	2	VIPR1	42552658	1.000000	0.71417	0.118000	0.21660	0.396000	0.30629	7.771000	0.85420	1.065000	0.40693	0.561000	0.74099	CGG	.		0.697	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254728.4	NM_004624	
TKT	7086	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	53269001	53269001	+	Silent	SNP	G	G	A	rs140465934	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr3:53269001G>A	ENST00000462138.1	-	5	715	c.627C>T	c.(625-627)ttC>ttT	p.F209F	TKT_ENST00000461139.1_5'Flank|TKT_ENST00000423516.1_Silent_p.F217F|TKT_ENST00000423525.2_Silent_p.F209F|TKT_ENST00000296289.6_Silent_p.F162F			P29401	TKT_HUMAN	transketolase	209					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		GTACATACCCGAAGGCCTCGC	0.597																																					p.F217F	Colon(133;1506 2347 35238 42177)	.											.	TKT-92	0			c.C651T						.	G	,	0,4406		0,0,2203	67.0	71.0	70.0		627,627	-3.2	1.0	3	dbSNP_134	70	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	TKT	NM_001064.3,NM_001135055.2	,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,	209/624,209/624	53269001	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	7086	exon6			ATACCCGAAGGCC		CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"""Wernicke-Korsakoff syndrome"""	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.627C>T	3.37:g.53269001G>A		90	0		64	28	NM_001258028	0	0	0	0	0	A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Silent	SNP	ENST00000462138.1	37	CCDS2871.1																																																																																			G|1.000;A|0.000		0.597	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350356.1		
RBP1	5947	bcgsc.ca	37	3	139258411	139258411	+	Silent	SNP	G	G	A	rs11549984	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr3:139258411G>A	ENST00000483943.2	-	1	150	c.150C>T	c.(148-150)cgC>cgT	p.R50R	RBP1_ENST00000492918.1_Silent_p.R50R|RP11-319G6.1_ENST00000515247.1_RNA|RBP1_ENST00000232219.2_Silent_p.R50R|RP11-319G6.1_ENST00000381790.3_RNA	NM_001130993.1	NP_001124465.1	P09455	RET1_HUMAN	retinol binding protein 1, cellular	0					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Acitretin(DB00459)|Vitamin A(DB00162)	CCACAAGCGGGCGGGACGGCT	0.662													G|||	431	0.0860623	0.0537	0.121	5008	,	,		13021	0.0843		0.1183	False		,,,				2504	0.0736				p.R50R		.											.	RBP1-514	0			c.C150T						.	G	,,	261,4141		3,255,1943	22.0	17.0	19.0		150,150,150	2.2	0.7	3	dbSNP_120	19	992,7606		64,864,3371	no	coding-synonymous,coding-synonymous,coding-synonymous	RBP1	NM_001130992.1,NM_001130993.1,NM_002899.3	,,	67,1119,5314	AA,AG,GG		11.5376,5.9291,9.6385	,,	50/158,50/154,50/198	139258411	1253,11747	2201	4299	6500	SO:0001819	synonymous_variant	5947	exon1			AAGCGGGCGGGAC		CCDS3110.2, CCDS46925.1, CCDS46926.1	3q21-q23	2013-03-01	2001-11-28		ENSG00000114115	ENSG00000114115		"""Fatty acid binding protein family"""	9919	protein-coding gene	gene with protein product		180260	"""retinol-binding protein 1, cellular"""			1654334, 9858824	Standard	NM_002899		Approved	CRABP-I, CRBP1, CRBP, RBPC, CRBPI	uc003eti.2	P09455	OTTHUMG00000155751	ENST00000483943.2:c.150C>T	3.37:g.139258411G>A		200	3		190	7	NM_002899	0	0	108	108	0	A8K2Q0|B7Z7A0|E7EWV0|F2Z2F2|Q6FGX8	Silent	SNP	ENST00000483943.2	37	CCDS46925.1																																																																																			G|0.910;A|0.090		0.662	RBP1-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341497.2	NM_002899	
ATR	545	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	142286929	142286929	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr3:142286929G>A	ENST00000350721.4	-	2	248	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	ATR_ENST00000383101.3_Missense_Mutation_p.R43W	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	43					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GTAAGTATCCGGTCAATGAAT	0.279								Other conserved DNA damage response genes																													p.R43W		.											.	ATR-1139	0			c.C127T						.						76.0	77.0	77.0					3																	142286929		2203	4296	6499	SO:0001583	missense	545	exon2			GTATCCGGTCAAT	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.127C>T	3.37:g.142286929G>A	ENSP00000343741:p.Arg43Trp	219	0		130	68	NM_001184	0	0	1	2	1	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.638080	0.67130	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.38560	1.13;1.13	4.94	-3.0	0.05480	.	0.067699	0.56097	D	0.000031	T	0.57651	0.2068	M	0.62723	1.935	0.31642	N	0.647863	D	0.89917	1.0	D	0.69654	0.965	T	0.68209	-0.5469	10	0.87932	D	0	-10.4651	18.3713	0.90408	0.0:0.0:0.2592:0.7407	.	43	Q13535	ATR_HUMAN	W	43	ENSP00000343741:R43W;ENSP00000372581:R43W	ENSP00000343741:R43W	R	-	1	2	ATR	143769619	1.000000	0.71417	0.970000	0.41538	0.986000	0.74619	0.502000	0.22594	-0.432000	0.07297	0.467000	0.42956	CGG	.		0.279	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	
TMEM41A	90407	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	185212464	185212464	+	Missense_Mutation	SNP	G	G	A	rs151156113		TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr3:185212464G>A	ENST00000421852.1	-	4	616	c.521C>T	c.(520-522)tCg>tTg	p.S174L	TMEM41A_ENST00000475480.1_5'UTR|TMEM41A_ENST00000296254.3_Intron	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	174						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AATTGGGGCCGAGAGGTTCAA	0.448													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19968	0.0		0.0	False		,,,				2504	0.0				p.S174L		.											.	TMEM41A-90	0			c.C521T						.	G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	161.0	158.0	159.0		521	5.8	1.0	3	dbSNP_134	159	0,8600		0,0,4300	no	missense	TMEM41A	NM_080652.3	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	174/265	185212464	1,13005	2203	4300	6503	SO:0001583	missense	90407	exon4			GGGGCCGAGAGGT	BC019884	CCDS3271.1	3q27.2	2006-04-12			ENSG00000163900	ENSG00000163900			30544	protein-coding gene	gene with protein product						12975309	Standard	NM_080652		Approved	MGC15397	uc003fpj.2	Q96HV5	OTTHUMG00000156660	ENST00000421852.1:c.521C>T	3.37:g.185212464G>A	ENSP00000406885:p.Ser174Leu	136	0		90	6	NM_080652	0	0	77	85	8	A8K4B3|D3DNU2|Q6ZMJ0	Missense_Mutation	SNP	ENST00000421852.1	37	CCDS3271.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	21.6	4.177133	0.78564	2.27E-4	0.0	ENSG00000163900	ENST00000421852	.	.	.	5.81	5.81	0.92471	.	0.194395	0.45867	D	0.000333	T	0.44371	0.1290	N	0.16790	0.44	0.80722	D	1	B	0.34103	0.437	B	0.32583	0.148	T	0.30416	-0.9979	9	0.22109	T	0.4	-9.3284	20.0838	0.97793	0.0:0.0:1.0:0.0	.	174	Q96HV5	TM41A_HUMAN	L	174	.	ENSP00000406885:S174L	S	-	2	0	TMEM41A	186695158	1.000000	0.71417	0.986000	0.45419	0.800000	0.45204	5.435000	0.66532	2.741000	0.93983	0.655000	0.94253	TCG	G|0.999;A|0.000		0.448	TMEM41A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345174.1	NM_080652	
MUC4	4585	bcgsc.ca	37	3	195509630	195509630	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr3:195509630C>G	ENST00000463781.3	-	2	9280	c.8821G>C	c.(8821-8823)Gac>Cac	p.D2941H	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D2941H|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGGTGGTGTCACCTGTGGAT	0.587																																					p.D2941H		.											.	MUC4-90	0			c.G8821C						.																																			SO:0001583	missense	4585	exon2			TGGTGTCACCTGT	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.8821G>C	3.37:g.195509630C>G	ENSP00000417498:p.Asp2941His	299	12		195	30	NM_018406	0	0	0	0	0	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	c	0.943	-0.708971	0.03230	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30981	1.52;1.51	.	.	.	.	.	.	.	.	T	0.13200	0.0320	N	0.08118	0	0.09310	N	1	B	0.28998	0.23	B	0.30646	0.118	T	0.33240	-0.9876	7	.	.	.	.	5.1523	0.15017	0.0:0.3724:0.6275:0.0	rs61200084	2813	E7ESK3	.	H	2941	ENSP00000417498:D2941H;ENSP00000420243:D2941H	.	D	-	1	0	MUC4	196994409	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.973000	0.00666	-0.000000	0.14550	0.000000	0.15137	GAC	.		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	bcgsc.ca	37	3	195509641	195509641	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr3:195509641A>G	ENST00000463781.3	-	2	9269	c.8810T>C	c.(8809-8811)gTa>gCa	p.V2937A	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V2937A|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATACTGAGGAAAG	0.577																																					p.V2937A		.											.	MUC4-90	0			c.T8810C						.						9.0	7.0	8.0					3																	195509641		662	1515	2177	SO:0001583	missense	4585	exon2			GTGGATACTGAGG	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.8810T>C	3.37:g.195509641A>G	ENSP00000417498:p.Val2937Ala	266	28		171	40	NM_018406	0	0	0	0	0	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	a	0.183	-1.060413	0.01950	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32988	1.44;1.43	.	.	.	.	.	.	.	.	T	0.12817	0.0311	N	0.08118	0	0.09310	N	1	B	0.17852	0.024	B	0.21546	0.035	T	0.34229	-0.9837	7	.	.	.	.	4.1164	0.10083	0.657:0.3429:0.0:0.0	rs28414759	2809	E7ESK3	.	A	2937	ENSP00000417498:V2937A;ENSP00000420243:V2937A	.	V	-	2	0	MUC4	196994420	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.919000	0.00694	-0.000000	0.14550	0.000000	0.15137	GTA	.		0.577	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	bcgsc.ca	37	3	195513154	195513154	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr3:195513154G>T	ENST00000463781.3	-	2	5756	c.5297C>A	c.(5296-5298)aCt>aAt	p.T1766N	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T1766N|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TACTGAGGAAGTGTCGGTGAC	0.587																																					p.T1766N		.											.	MUC4-90	0			c.C5297A						.						62.0	57.0	59.0					3																	195513154		692	1591	2283	SO:0001583	missense	4585	exon2			GAGGAAGTGTCGG	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.5297C>A	3.37:g.195513154G>T	ENSP00000417498:p.Thr1766Asn	824	27		699	65	NM_018406	0	0	0	0	0	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	5.471	0.271874	0.10349	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32272	1.46;1.46	.	.	.	.	.	.	.	.	T	0.11452	0.0279	N	0.08118	0	0.09310	N	1	B	0.22909	0.077	B	0.06405	0.002	T	0.28586	-1.0039	7	.	.	.	.	2.6645	0.05037	0.4931:0.0:0.5069:0.0	.	1766	E7ESK3	.	N	1766	ENSP00000417498:T1766N;ENSP00000420243:T1766N	.	T	-	2	0	MUC4	196997549	0.000000	0.05858	0.010000	0.14722	0.010000	0.07245	0.176000	0.16782	0.088000	0.17205	0.089000	0.15464	ACT	.		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
PROM1	8842	hgsc.bcm.edu;broad.mit.edu	37	4	15982079	15982079	+	Missense_Mutation	SNP	A	A	C			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr4:15982079A>C	ENST00000510224.1	-	24	2703	c.2455T>G	c.(2455-2457)Tat>Gat	p.Y819D	PROM1_ENST00000539194.1_Missense_Mutation_p.Y819D|PROM1_ENST00000508167.1_Missense_Mutation_p.Y810D|PROM1_ENST00000540805.1_Missense_Mutation_p.Y819D|PROM1_ENST00000505450.1_Missense_Mutation_p.Y810D|PROM1_ENST00000447510.2_Missense_Mutation_p.Y819D|PROM1_ENST00000543373.1_Missense_Mutation_p.Y810D			O43490	PROM1_HUMAN	prominin 1	819					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						ATTCGACGATAGTACTTAGCC	0.418																																					p.Y819D		.											.	PROM1-207	0			c.T2455G						.						50.0	46.0	48.0					4																	15982079		1806	4016	5822	SO:0001583	missense	8842	exon23			GACGATAGTACTT	AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.2455T>G	4.37:g.15982079A>C	ENSP00000426809:p.Tyr819Asp	78	0		74	4	NM_006017	0	0	0	0	0	Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Missense_Mutation	SNP	ENST00000510224.1	37	CCDS47029.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.6|24.6	4.551648|4.551648	0.86127|0.86127	.|.	.|.	ENSG00000007062|ENSG00000007062	ENST00000513946|ENST00000447510;ENST00000540805;ENST00000539194;ENST00000505450;ENST00000508167;ENST00000510224;ENST00000543373	.|T;T;T;T;T;T;T	.|0.67523	.|-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.108540	.|0.64402	.|D	.|0.000004	D|D	0.82806|0.82806	0.5117|0.5117	M|M	0.80422|0.80422	2.495|2.495	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.91635	.|0.998;0.998;0.998;0.998;0.991;0.999	D|D	0.85254|0.85254	0.1046|0.1046	5|10	.|0.87932	.|D	.|0	0.8689|0.8689	16.2988|16.2988	0.82793|0.82793	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|810;819;810;819;810;819	.|O43490-5;O43490-6;O43490-4;O43490-7;O43490-2;O43490	.|.;.;.;.;.;PROM1_HUMAN	R|D	69|819;819;819;810;810;819;810	.|ENSP00000415481:Y819D;ENSP00000438045:Y819D;ENSP00000443620:Y819D;ENSP00000426090:Y810D;ENSP00000427346:Y810D;ENSP00000426809:Y819D;ENSP00000445526:Y810D	.|ENSP00000415481:Y819D	L|Y	-|-	2|1	0|0	PROM1|PROM1	15591177|15591177	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.773000|0.773000	0.43773|0.43773	8.888000|8.888000	0.92464|0.92464	2.311000|2.311000	0.77944|0.77944	0.533000|0.533000	0.62120|0.62120	CTA|TAT	.		0.418	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017	
ZAR1	326340	hgsc.bcm.edu	37	4	48492434	48492434	+	Missense_Mutation	SNP	G	G	C	rs10008444	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr4:48492434G>C	ENST00000327939.4	+	1	166	c.126G>C	c.(124-126)caG>caC	p.Q42H		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	42					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)	5						GCTGGCAGCAGCGCGGCAGGG	0.756													C|||	4938	0.986022	0.9493	0.9957	5008	,	,		9261	1.0		1.0	False		,,,				2504	1.0				p.Q42H		.											.	ZAR1-90	0			c.G126C						.	C	HIS/GLN	2851,89		1381,89,0	2.0	3.0	3.0		126	-0.2	0.0	4	dbSNP_119	3	6474,0		3237,0,0	no	missense	ZAR1	NM_175619.1	24	4618,89,0	CC,CG,GG		0.0,3.0272,0.9454	benign	42/425	48492434	9325,89	1470	3237	4707	SO:0001583	missense	326340	exon1			GCAGCAGCGCGGC	AY193890	CCDS3483.1	4p11	2014-02-20			ENSG00000182223	ENSG00000182223			20436	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 6"""	607520				12539046	Standard	NM_175619		Approved	Z3CXXC6	uc003gyd.3	Q86SH2	OTTHUMG00000102093	ENST00000327939.4:c.126G>C	4.37:g.48492434G>C	ENSP00000329803:p.Gln42His	0	0		6	6	NM_175619	0	0	0	0	0		Missense_Mutation	SNP	ENST00000327939.4	37	CCDS3483.1	2130	0.9752747252747253	449	0.9126016260162602	359	0.9917127071823204	565	0.9877622377622378	757	0.9986807387862797	C	0.021	-1.426522	0.01117	0.969728	1.0	ENSG00000182223	ENST00000327939	.	.	.	4.09	-0.185	0.13276	.	0.811302	0.10779	N	0.635071	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	0.22103	-1.0226	8	0.14252	T	0.57	-31.571	6.2995	0.21105	0.0:0.2927:0.4307:0.2766	rs10008444;rs58304706	42	Q86SH2	ZAR1_HUMAN	H	42	.	ENSP00000329803:Q42H	Q	+	3	2	ZAR1	48187191	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	0.053000	0.14184	-0.405000	0.07599	-0.676000	0.03789	CAG	G|0.025;C|0.975		0.756	ZAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219927.3		
AMTN	401138	broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	71394907	71394907	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr4:71394907A>G	ENST00000339336.4	+	7	467	c.337A>G	c.(337-339)Atc>Gtc	p.I113V	AMTN_ENST00000504451.1_Missense_Mutation_p.I112V	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	113					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|odontogenesis of dentin-containing tooth (GO:0042475)	basal lamina (GO:0005605)|cell-cell junction (GO:0005911)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			TTAGGGCACTATCCTAAGCTC	0.259																																					p.I113V		.											.	AMTN-153	0			c.A337G						.						40.0	42.0	41.0					4																	71394907		2188	4278	6466	SO:0001583	missense	401138	exon7			GGCACTATCCTAA	AY358528	CCDS3542.1, CCDS68716.1	4q13.3	2006-12-12			ENSG00000187689	ENSG00000187689			33188	protein-coding gene	gene with protein product		610912				16304441	Standard	NM_001286731		Approved	UNQ689, RSTI689	uc003hfk.1	Q6UX39	OTTHUMG00000129906	ENST00000339336.4:c.337A>G	4.37:g.71394907A>G	ENSP00000341013:p.Ile113Val	318	2		581	363	NM_212557	0	0	0	0	0	Q0P503|Q0P506	Missense_Mutation	SNP	ENST00000339336.4	37	CCDS3542.1	.	.	.	.	.	.	.	.	.	.	A	10.20	1.284924	0.23392	.	.	ENSG00000187689	ENST00000339336;ENST00000504451	T;T	0.35048	1.33;1.33	5.2	-0.0841	0.13691	.	0.490245	0.19342	N	0.116628	T	0.16769	0.0403	N	0.17082	0.46	0.39665	D	0.970676	B;B	0.12630	0.006;0.006	B;B	0.20184	0.028;0.028	T	0.10064	-1.0646	10	0.16420	T	0.52	-7.2016	4.6806	0.12732	0.5529:0.168:0.2791:0.0	.	112;113	Q6UX39-2;Q6UX39	.;AMTN_HUMAN	V	113;112	ENSP00000341013:I113V;ENSP00000422452:I112V	ENSP00000341013:I113V	I	+	1	0	AMTN	71429496	0.055000	0.20627	0.685000	0.30070	0.935000	0.57460	0.255000	0.18333	0.061000	0.16311	0.383000	0.25322	ATC	.		0.259	AMTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252157.1	NM_212557	
DSPP	1834	bcgsc.ca	37	4	88537270	88537270	+	Silent	SNP	C	C	T			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr4:88537270C>T	ENST00000282478.7	+	4	3489	c.3456C>T	c.(3454-3456)gaC>gaT	p.D1152D	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.D1152D			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1152	Asp/Ser-rich.			D -> N (in Ref. 3; AAD16120). {ECO:0000305}.	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)		aaagcagcgacagcagtgaca	0.557																																					p.D1152D		.											.	DSPP-90	0			c.C3456T						.						47.0	61.0	56.0					4																	88537270		1584	2865	4449	SO:0001819	synonymous_variant	1834	exon5			CAGCGACAGCAGT	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.3456C>T	4.37:g.88537270C>T		472	5		839	109	NM_014208	0	0	0	0	0	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.		0.557	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208	
MEPE	56955	broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	88767172	88767172	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr4:88767172A>T	ENST00000424957.3	+	4	1225	c.1152A>T	c.(1150-1152)aaA>aaT	p.K384N	MEPE_ENST00000395102.4_Missense_Mutation_p.K415N|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000560249.1_Missense_Mutation_p.K271N|MEPE_ENST00000361056.3_Missense_Mutation_p.K384N|MEPE_ENST00000540395.1_Missense_Mutation_p.K271N|MEPE_ENST00000497649.2_Missense_Mutation_p.K360N	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	384					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AGAAAAGAAAAGAAGGCAGTA	0.433																																					p.K384N		.											.	MEPE-93	0			c.A1152T						.						57.0	57.0	57.0					4																	88767172		2203	4300	6503	SO:0001583	missense	56955	exon4			AAGAAAAGAAGGC	AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.1152A>T	4.37:g.88767172A>T	ENSP00000416984:p.Lys384Asn	290	1		614	80	NM_020203	0	0	0	0	0	A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	ENST00000424957.3	37	CCDS3625.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.310828	0.81358	.	.	ENSG00000152595	ENST00000424957;ENST00000395102;ENST00000497649;ENST00000540395;ENST00000361056	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	4.99	-0.528	0.11905	.	0.527108	0.17594	N	0.168659	T	0.52419	0.1733	M	0.76002	2.32	0.09310	N	1	D	0.64830	0.994	P	0.55923	0.787	T	0.43540	-0.9385	10	0.72032	D	0.01	-12.633	2.7371	0.05243	0.4917:0.0:0.1836:0.3247	.	384	Q9NQ76	MEPE_HUMAN	N	384;415;360;271;384	ENSP00000416984:K384N;ENSP00000378534:K415N;ENSP00000422747:K360N;ENSP00000443491:K271N;ENSP00000354341:K384N	ENSP00000354341:K384N	K	+	3	2	MEPE	88986196	0.004000	0.15560	0.160000	0.22671	0.857000	0.48899	0.280000	0.18790	0.340000	0.23745	0.533000	0.62120	AAA	.		0.433	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1		
CYP2U1	113612	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	108853207	108853216	+	Frame_Shift_Del	DEL	GCGCGAGGCG	GCGCGAGGCG	-			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	GCGCGAGGCG	GCGCGAGGCG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr4:108853207_108853216delGCGCGAGGCG	ENST00000332884.6	+	1	683_692	c.408_417delGCGCGAGGCG	c.(406-417)gtgcgcgaggcgfs	p.VREA136fs	CYP2U1_ENST00000508453.1_5'UTR|RP11-286E11.1_ENST00000513071.1_RNA|RP11-286E11.1_ENST00000499098.1_RNA|CYP2U1_ENST00000513302.1_3'UTR	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	136					arachidonic acid metabolic process (GO:0019369)|cell death (GO:0008219)|omega-hydroxylase P450 pathway (GO:0097267)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		TCCACAGCGTGCGCGAGGCGCTGGTGCAGC	0.657																																					p.136_139del		.											.	CYP2U1-90	0			c.408_417del						.																																			SO:0001589	frameshift_variant	113612	exon1			CAGCGTGCGCGAG	BC012027	CCDS34047.1	4q25	2012-11-23			ENSG00000155016	ENSG00000155016		"""Cytochrome P450s"""	20582	protein-coding gene	gene with protein product	"""spastic paraplegia 49"""	610670				14975754, 14660610	Standard	XM_005262717		Approved	SPG49	uc003hyp.3	Q7Z449	OTTHUMG00000161084	ENST00000332884.6:c.408_417delGCGCGAGGCG	4.37:g.108853207_108853216delGCGCGAGGCG	ENSP00000333212:p.Val136fs	202	0		161	29	NM_183075	0	0	0	0	0	B2RMV7|Q96EQ6	Frame_Shift_Del	DEL	ENST00000332884.6	37	CCDS34047.1																																																																																			.		0.657	CYP2U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363691.2	NM_183075	
FAM160A1	729830	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	152498948	152498948	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr4:152498948C>T	ENST00000505231.1	+	3	611	c.452C>T	c.(451-453)tCa>tTa	p.S151L	FAM160A1_ENST00000435205.1_Missense_Mutation_p.S151L|RN7SKP35_ENST00000517210.1_RNA			Q05DH4	F16A1_HUMAN	family with sequence similarity 160, member A1	151										endometrium(2)|kidney(1)	3						AGCTCTTGTTCAGGAACAACC	0.488																																					p.S151L		.											.	.	0			c.C452T						.						133.0	111.0	118.0					4																	152498948		692	1591	2283	SO:0001583	missense	729830	exon5			CTTGTTCAGGAAC		CCDS47146.1	4q31.3	2012-11-30			ENSG00000164142	ENSG00000164142			34237	protein-coding gene	gene with protein product							Standard	NM_001109977		Approved	FLJ43373	uc003imj.2	Q05DH4	OTTHUMG00000161675	ENST00000505231.1:c.452C>T	4.37:g.152498948C>T	ENSP00000421580:p.Ser151Leu	193	1		124	44	NM_001109977	0	0	0	0	0	Q6ZUS2	Missense_Mutation	SNP	ENST00000505231.1	37	CCDS47146.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.861203	0.91433	.	.	ENSG00000164142	ENST00000435205;ENST00000505231	T;T	0.31510	1.49;1.49	5.77	5.77	0.91146	.	0.133336	0.52532	D	0.000072	T	0.43656	0.1257	L	0.52364	1.645	0.54753	D	0.99998	P	0.46064	0.872	P	0.50970	0.655	T	0.04635	-1.0937	9	.	.	.	-14.6434	20.0607	0.97674	0.0:1.0:0.0:0.0	.	151	Q05DH4	F16A1_HUMAN	L	151	ENSP00000413196:S151L;ENSP00000421580:S151L	.	S	+	2	0	FAM160A1	152718398	1.000000	0.71417	0.836000	0.33094	0.979000	0.70002	4.950000	0.63603	2.733000	0.93635	0.650000	0.86243	TCA	.		0.488	FAM160A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365691.1	NM_001109977	
GUCY1A3	2982	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	156618116	156618116	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr4:156618116G>A	ENST00000296518.7	+	3	306	c.97G>A	c.(97-99)Gca>Aca	p.A33T	GUCY1A3_ENST00000511108.1_Missense_Mutation_p.A33T|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.A33T|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.A33T|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.A33T|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.A33T			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	33					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TTCAGAGGAGGCAGCAGGAAG	0.488																																					p.A33T		.											.	GUCY1A3-93	0			c.G97A						.						108.0	96.0	100.0					4																	156618116		2203	4300	6503	SO:0001583	missense	2982	exon3			GAGGAGGCAGCAG		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.97G>A	4.37:g.156618116G>A	ENSP00000296518:p.Ala33Thr	210	0		129	33	NM_001130687	0	0	3	3	0	D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	G	8.283	0.816011	0.16607	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000296518;ENST00000513574	D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.69;-1.83;-1.83;-1.83	5.93	1.75	0.24633	.	0.666561	0.13996	N	0.348443	T	0.68155	0.2970	N	0.22421	0.69	0.09310	N	1	B;B;B	0.20671	0.006;0.006;0.047	B;B;B	0.14023	0.01;0.01;0.01	T	0.49862	-0.8894	10	0.11182	T	0.66	.	3.4542	0.07510	0.1551:0.0978:0.5417:0.2055	.	33;33;33	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	T	33	ENSP00000424361:A33T;ENSP00000421493:A33T;ENSP00000426968:A33T;ENSP00000412201:A33T;ENSP00000296518:A33T;ENSP00000426040:A33T	ENSP00000296518:A33T	A	+	1	0	GUCY1A3	156837566	0.000000	0.05858	0.097000	0.21041	0.484000	0.33280	0.548000	0.23314	0.858000	0.35431	0.591000	0.81541	GCA	.		0.488	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2		
STOX2	56977	bcgsc.ca	37	4	184931818	184931818	+	Silent	SNP	G	G	A	rs4861597	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr4:184931818G>A	ENST00000308497.4	+	3	3262	c.1827G>A	c.(1825-1827)acG>acA	p.T609T	STOX2_ENST00000438269.1_Silent_p.T609T	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	609					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CTAGTGAGACGGTGCTCACGG	0.502													G|||	2144	0.428115	0.4123	0.3156	5008	,	,		20530	0.6022		0.2972	False		,,,				2504	0.4847				p.T609T		.											.	STOX2-22	0			c.G1827A						.	G		1533,2383		301,931,726	54.0	55.0	55.0		1827	-7.6	0.1	4	dbSNP_111	55	2232,6076		318,1596,2240	no	coding-synonymous	STOX2	NM_020225.1		619,2527,2966	AA,AG,GG		26.8657,39.1471,30.8001		609/927	184931818	3765,8459	1958	4154	6112	SO:0001819	synonymous_variant	56977	exon3			TGAGACGGTGCTC	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.1827G>A	4.37:g.184931818G>A		433	4		209	8	NM_020225	0	0	0	0	0	A6H8U4|Q9NPS8	Silent	SNP	ENST00000308497.4	37	CCDS47167.1																																																																																			G|0.583;A|0.417		0.502	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225	
NSUN2	54888	hgsc.bcm.edu	37	5	6633042	6633042	+	Silent	SNP	C	C	T	rs10062086	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr5:6633042C>T	ENST00000264670.6	-	1	362	c.51G>A	c.(49-51)gaG>gaA	p.E17E	SRD5A1_ENST00000274192.5_5'Flank|SRD5A1_ENST00000537411.1_5'Flank|NSUN2_ENST00000539938.1_5'UTR|NSUN2_ENST00000506139.1_Silent_p.E17E|SRD5A1_ENST00000538824.1_5'Flank	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	17					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CCTCCGCGTCCTCCGGCCGCT	0.781													C|||	1385	0.276558	0.2829	0.3905	5008	,	,		9693	0.1587		0.3917	False		,,,				2504	0.1902				p.E17E		.											.	NSUN2-91	0			c.G51A						.						2.0	3.0	2.0					5																	6633042		1293	2804	4097	SO:0001819	synonymous_variant	54888	exon1			CGCGTCCTCCGGC	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.51G>A	5.37:g.6633042C>T		0	0		8	8	NM_017755	0	0	0	18	18	A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Silent	SNP	ENST00000264670.6	37	CCDS3869.1																																																																																			C|0.687;T|0.313		0.781	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755	
DAB2	1601	bcgsc.ca	37	5	39376885	39376906	+	Frame_Shift_Del	DEL	CGCGGGCACAGCAGGTGGCTGC	CGCGGGCACAGCAGGTGGCTGC	-	rs142209579|rs199699595|rs374737969	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	CGCGGGCACAGCAGGTGGCTGC	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr5:39376885_39376906delCGCGGGCACAGCAGGTGGCTGC	ENST00000320816.6	-	12	2450_2471	c.1983_2004delGCAGCCACCTGCTGTGCCCGCG	c.(1981-2004)cggcagccacctgctgtgcccgcgfs	p.RQPPAVPA661fs	DAB2_ENST00000545653.1_Frame_Shift_Del_p.RQPPAVPA640fs|DAB2_ENST00000339788.6_Frame_Shift_Del_p.RQPPAVPA443fs|DAB2_ENST00000509337.1_Frame_Shift_Del_p.RQPPAVPA640fs	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	661	Required for interaction with MYO6. {ECO:0000250}.|Sufficient for interaction with GRB2. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)	p.A668A(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CTCCCTTCCGCGCGGGCACAGCAGGTGGCTGCCGCAGTTGGA	0.505											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.661_668del		.											.	DAB2-227	1	Substitution - coding silent(1)	large_intestine(1)	c.1983_2004del						.																																			SO:0001589	frameshift_variant	1601	exon12			CTTCCGCGCGGGC	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.1983_2004delGCAGCCACCTGCTGTGCCCGCG	5.37:g.39376885_39376906delCGCGGGCACAGCAGGTGGCTGC	ENSP00000313391:p.Arg661fs	97	0	885	127	6	NM_001343	0	0	0	0	0	A6NES5|Q13598|Q9BTY0|Q9UK04	Frame_Shift_Del	DEL	ENST00000320816.6	37	CCDS34149.1																																																																																			.		0.505	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343	
C6	729	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	41143080	41143080	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr5:41143080C>A	ENST00000263413.3	-	18	2916	c.2652G>T	c.(2650-2652)ttG>ttT	p.L884F	C6_ENST00000337836.5_Missense_Mutation_p.L884F	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	884	C5b-binding domain.|Factor I module (FIM) 2.|Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACTGTGGGGGCAATAGGCAGA	0.433																																					p.L884F		.											.	C6-95	0			c.G2652T						.						126.0	110.0	116.0					5																	41143080		2203	4300	6503	SO:0001583	missense	729	exon18			TGGGGGCAATAGG	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2652G>T	5.37:g.41143080C>A	ENSP00000263413:p.Leu884Phe	140	0		243	35	NM_001115131	0	0	0	0	0		Missense_Mutation	SNP	ENST00000263413.3	37	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837252	0.32513	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.60797	0.16;0.16	5.71	0.75	0.18387	Factor I / membrane attack complex (1);	0.568856	0.17279	N	0.180096	T	0.31606	0.0802	N	0.14661	0.345	0.37189	D	0.903837	B	0.23058	0.079	B	0.18871	0.023	T	0.09952	-1.0651	10	0.45353	T	0.12	-4.7452	2.0121	0.03490	0.1093:0.4259:0.1876:0.2772	.	884	P13671	CO6_HUMAN	F	884	ENSP00000338861:L884F;ENSP00000263413:L884F	ENSP00000263413:L884F	L	-	3	2	C6	41178837	0.144000	0.22641	0.617000	0.29091	0.708000	0.40852	-0.369000	0.07533	0.105000	0.17753	-0.142000	0.14014	TTG	.		0.433	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1		
CMYA5	202333	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	79028141	79028141	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr5:79028141G>A	ENST00000446378.2	+	2	3584	c.3553G>A	c.(3553-3555)Gaa>Aaa	p.E1185K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1185					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAAAGAACAGGAACCCACAGC	0.423																																					p.E1185K		.											.	CMYA5-77	0			c.G3553A						.						56.0	53.0	54.0					5																	79028141		1926	4142	6068	SO:0001583	missense	202333	exon2			GAACAGGAACCCA	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.3553G>A	5.37:g.79028141G>A	ENSP00000394770:p.Glu1185Lys	182	0		351	43	NM_153610	0	0	0	0	0	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746246	0.30955	.	.	ENSG00000164309	ENST00000446378	T	0.49432	0.78	5.81	3.05	0.35203	.	0.515814	0.18097	N	0.151817	T	0.41328	0.1154	M	0.67953	2.075	0.09310	N	1	B	0.21071	0.051	B	0.17979	0.02	T	0.36504	-0.9745	10	0.40728	T	0.16	.	4.9915	0.14216	0.2685:0.2762:0.4553:0.0	.	1185	Q8N3K9	CMYA5_HUMAN	K	1185	ENSP00000394770:E1185K	ENSP00000394770:E1185K	E	+	1	0	CMYA5	79063897	0.000000	0.05858	0.918000	0.36340	0.894000	0.52154	0.205000	0.17356	0.366000	0.24427	0.655000	0.94253	GAA	.		0.423	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610	
PROB1	389333	hgsc.bcm.edu	37	5	138730037	138730037	+	Missense_Mutation	SNP	T	T	C	rs11748963	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr5:138730037T>C	ENST00000434752.2	-	1	848	c.734A>G	c.(733-735)cAg>cGg	p.Q245R		NM_001161546.1	NP_001155018.1	E7EW31	PROB1_HUMAN	proline-rich basic protein 1	245																	CGCGGCGGCCTGCAGGGGGCC	0.781													T|||	1773	0.354034	0.146	0.2839	5008	,	,		10752	0.6151		0.3042	False		,,,				2504	0.4673				p.Q245R		.											.	.	0			c.A734G						.						5.0	7.0	6.0					5																	138730037		671	1537	2208	SO:0001583	missense	389333	exon1			GCGGCCTGCAGGG	AK316483	CCDS54909.1	5q31.2	2012-10-01	2012-10-01	2012-10-01	ENSG00000228672	ENSG00000228672			41906	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 65"""	C5orf65			Standard	NM_001161546		Approved		uc011czc.1	E7EW31		ENST00000434752.2:c.734A>G	5.37:g.138730037T>C	ENSP00000416033:p.Gln245Arg	0	0		6	6	NM_001161546	0	0	0	0	0	B4E007	Missense_Mutation	SNP	ENST00000434752.2	37	CCDS54909.1	803	0.3676739926739927	105	0.21341463414634146	108	0.2983425414364641	366	0.6398601398601399	224	0.2955145118733509	T	21.8	4.205823	0.79127	.	.	ENSG00000228672	ENST00000434752	.	.	.	4.26	4.26	0.50523	.	.	.	.	.	T	0.00012	0.0000	L	0.36672	1.1	0.33628	P	0.39427599999999996	D	0.76494	0.999	D	0.83275	0.996	T	0.45483	-0.9258	7	0.52906	T	0.07	.	11.6588	0.51334	0.0:0.0:0.0:1.0	rs11748963	245	E7EW31	CE065_HUMAN	R	245	.	ENSP00000416033:Q245R	Q	-	2	0	AC135457.1	138757936	0.990000	0.36364	0.998000	0.56505	0.770000	0.43624	2.116000	0.41930	1.919000	0.55581	0.459000	0.35465	CAG	T|0.632;C|0.368		0.781	PROB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470735.1	NM_001161546	
RREB1	6239	hgsc.bcm.edu	37	6	7230680	7230680	+	Missense_Mutation	SNP	G	G	T	rs9502564	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr6:7230680G>T	ENST00000349384.6	+	10	2662	c.2348G>T	c.(2347-2349)gGc>gTc	p.G783V	RREB1_ENST00000379933.3_Missense_Mutation_p.G783V|RREB1_ENST00000334984.6_Missense_Mutation_p.G783V|RREB1_ENST00000379938.2_Missense_Mutation_p.G783V	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	783			G -> V (in dbSNP:rs9502564). {ECO:0000269|PubMed:15067362, ECO:0000269|PubMed:21703425}.		multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTGGGCGGGGGCCACAAGGGC	0.697													G|||	2678	0.534744	0.5333	0.4063	5008	,	,		15583	0.7411		0.2893	False		,,,				2504	0.6677				p.G783V		.											.	RREB1-144	0			c.G2348T						.	G	VAL/GLY,VAL/GLY,VAL/GLY,VAL/GLY	2083,2197		552,979,609	9.0	9.0	9.0		2348,2348,2348,2348	5.3	1.0	6	dbSNP_119	9	2599,5719		488,1623,2048	yes	missense,missense,missense,missense	RREB1	NM_001003698.3,NM_001003699.3,NM_001003700.1,NM_001168344.1	109,109,109,109	1040,2602,2657	TT,TG,GG		31.2455,48.6682,37.1646	benign,benign,benign,benign	783/1688,783/1743,783/1477,783/1688	7230680	4682,7916	2140	4159	6299	SO:0001583	missense	6239	exon10			GCGGGGGCCACAA	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2348G>T	6.37:g.7230680G>T	ENSP00000305560:p.Gly783Val	2	0		13	7	NM_001003700	0	0	3	5	2	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	CCDS34336.1	1014	0.4642857142857143	249	0.5060975609756098	148	0.4088397790055249	412	0.7202797202797203	205	0.2704485488126649	G	11.15	1.553554	0.27739	0.486682	0.312455	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984	T;T;T;T	0.09163	3.07;3.07;3.07;3.01	5.32	5.32	0.75619	.	0.278837	0.31370	N	0.007766	T	0.02533	0.0077	N	0.14661	0.345	0.21915	P	0.999474401	B;B;B	0.32653	0.161;0.379;0.328	B;B;B	0.35182	0.079;0.197;0.178	T	0.45512	-0.9256	9	0.13108	T	0.6	-17.3998	11.4207	0.49980	0.0:0.0:0.8202:0.1797	rs9502564	783;783;783	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	V	783	ENSP00000369265:G783V;ENSP00000369270:G783V;ENSP00000305560:G783V;ENSP00000335574:G783V	ENSP00000335574:G783V	G	+	2	0	RREB1	7175679	1.000000	0.71417	0.996000	0.52242	0.833000	0.47200	5.477000	0.66799	2.760000	0.94817	0.655000	0.94253	GGC	G|0.546;T|0.454		0.697	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1		
E2F3	1871	broad.mit.edu	37	6	20483017	20483017	+	Silent	SNP	G	G	T	rs149378067		TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr6:20483017G>T	ENST00000346618.3	+	4	816	c.750G>T	c.(748-750)ggG>ggT	p.G250G	E2F3_ENST00000535432.1_Silent_p.G119G	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	250	Dimerization. {ECO:0000255}.				mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			CTGAGGATGGGGGCATGCTGG	0.517																																					p.G250G		.											.	E2F3-414	0			c.G750T						.						76.0	72.0	74.0					6																	20483017		2203	4300	6503	SO:0001819	synonymous_variant	1871	exon4			GGATGGGGGCATG	Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.750G>T	6.37:g.20483017G>T		77	0		105	5	NM_001949	0	0	7	7	0	Q15000|Q68DT0|Q9BZ44	Silent	SNP	ENST00000346618.3	37	CCDS4545.1																																																																																			G|1.000;C|0.000		0.517	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043828.1		
HIST1H4B	8366	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	26027447	26027447	+	Missense_Mutation	SNP	C	C	G	rs574251003		TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr6:26027447C>G	ENST00000377364.3	-	1	33	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	12					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						CCTCCCTTACCCAAACCTTTA	0.532																																					p.G12R		.											.	HIST1H4B-70	0			c.G34C						.						61.0	57.0	58.0					6																	26027447		2203	4300	6503	SO:0001583	missense	8366	exon1			CCTTACCCAAACC	X67081	CCDS4572.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124529	ENSG00000278705		"""Histones / Replication-dependent"""	4789	protein-coding gene	gene with protein product		602829	"""H4 histone family, member I"", ""histone 1, H4b"""	H4FI		9119399, 12408966	Standard	NM_003544		Approved	H4/I	uc003nfr.3	P62805	OTTHUMG00000014417	ENST00000377364.3:c.34G>C	6.37:g.26027447C>G	ENSP00000366581:p.Gly12Arg	154	0		117	50	NM_003544	0	0	0	0	0	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377364.3	37	CCDS4572.1	.	.	.	.	.	.	.	.	.	.	c	19.61	3.859124	0.71834	.	.	ENSG00000124529	ENST00000377364	.	.	.	4.65	4.65	0.58169	.	0.000000	0.53938	U	0.000045	T	0.70369	0.3216	.	.	.	0.44603	D	0.997571	.	.	.	.	.	.	T	0.73007	-0.4118	6	0.56958	D	0.05	.	17.4106	0.87484	0.0:1.0:0.0:0.0	.	.	.	.	R	12	.	ENSP00000366581:G12R	G	-	1	0	HIST1H4B	26135426	1.000000	0.71417	0.087000	0.20705	0.002000	0.02628	7.500000	0.81588	2.506000	0.84524	0.563000	0.77884	GGT	.		0.532	HIST1H4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040079.2	NM_003544	
HLA-B	3106	hgsc.bcm.edu	37	6	31324003	31324025	+	Frame_Shift_Del	DEL	TCGCCCTCCAGGTAGGCTCTCCG	TCGCCCTCCAGGTAGGCTCTCCG	-	rs151341311|rs151341310|rs151341313|rs151341312|rs151341315|rs151341314|rs151341316|rs75202290|rs41558016|rs2523600|rs376871308|rs1050683|rs200488894|rs697742|rs41543920|rs79650563|rs41542712|rs72558118|rs9266141|rs9266144|rs41546113|rs2308466|rs41557818|rs41557117	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	TCGCCCTCCAGGTAGGCTCTCCG	TCGCCCTCCAGGTAGGCTCTCCG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr6:31324003_31324025delTCGCCCTCCAGGTAGGCTCTCCG	ENST00000412585.2	-	3	566_588	c.538_560delCGGAGAGCCTACCTGGAGGGCGA	c.(538-561)cggagagcctacctggagggcgagfs	p.RRAYLEGE180fs		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	180	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CTCCACGCACTCGCCCTCCAGGTAGGCTCTCCGCTGCTCCGCC	0.668									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																												p.180_187del		.											.	HLA-B-90	0			c.538_560del						.																																			SO:0001589	frameshift_variant	3106	exon3	Familial Cancer Database	;Lichen Sclerosis, Familial	ACGCACTCGCCCT	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.538_560delCGGAGAGCCTACCTGGAGGGCGA	6.37:g.31324003_31324025delTCGCCCTCCAGGTAGGCTCTCCG	ENSP00000399168:p.Arg180fs	126	0		74	0	NM_005514	0	0	0	0	0	Q29764	Frame_Shift_Del	DEL	ENST00000412585.2	37	CCDS34394.1																																																																																			.		0.668	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514	
MICA	100507436	broad.mit.edu	37	6	31379115	31379115	+	Missense_Mutation	SNP	G	G	A	rs1131896	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr6:31379115G>A	ENST00000449934.2	+	3	646	c.592G>A	c.(592-594)Ggc>Agc	p.G198S	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				TCTAGAATCCGGCGTAGTCCT	0.537													g|||	1730	0.345447	0.2852	0.3501	5008	,	,		20682	0.4216		0.2823	False		,,,				2504	0.41				p.G198S		.											.	.	0			c.G592A						.	G	SER/GLY	379,1005		53,273,366	97.0	86.0	89.0		592	-2.8	0.0	6	dbSNP_86	89	805,2377		100,605,886	yes	missense	MICA	NM_001177519.1	56	153,878,1252	AA,AG,GG		25.2986,27.3844,25.9308	benign	198/333	31379115	1184,3382	692	1591	2283	SO:0001583	missense	100507436	exon3			GAATCCGGCGTAG	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"""Immunoglobulin superfamily / C1-set domain containing"""	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.592G>A	6.37:g.31379115G>A	ENSP00000413079:p.Gly198Ser	177	0		90	3	NM_001177519	0	1	98	100	1		Missense_Mutation	SNP	ENST00000449934.2	37	CCDS56412.1	672	0.3076923076923077	143	0.29065040650406504	112	0.30939226519337015	228	0.3986013986013986	189	0.24934036939313983	N	6.785	0.513740	0.12944	0.273844	0.252986	ENSG00000204520	ENST00000376222;ENST00000364810;ENST00000399172;ENST00000449934	T	0.00995	5.46	1.41	-2.82	0.05787	.	3.067170	0.01197	N	0.007461	T	0.00412	0.0013	M	0.67625	2.065	0.80722	P	0.0	B;P	0.34837	0.435;0.472	B;B	0.28553	0.036;0.091	T	0.41161	-0.9524	9	0.62326	D	0.03	.	0.6695	0.00856	0.1927:0.1761:0.3847:0.2464	rs1131896;rs2523494;rs3819266;rs17884174;rs56738748;rs1131896	60;198	Q5SS58;Q96QC4	.;.	S	60;198;155;198	ENSP00000413079:G198S	ENSP00000365394:G198S	G	+	1	0	MICA	31487094	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.607000	0.05648	-1.451000	0.01933	-1.206000	0.01644	GGC	G|0.689;A|0.311		0.537	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519	
LHFPL5	222662	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	35773835	35773835	+	Missense_Mutation	SNP	T	T	G			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr6:35773835T>G	ENST00000373853.1	+	1	766	c.388T>G	c.(388-390)Tgt>Ggt	p.C130G	LHFPL5_ENST00000360215.1_Missense_Mutation_p.C130G			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	130					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						CTATAAGATCTGTGCATGGAT	0.587																																					p.C130G		.											.	LHFPL5-91	0			c.T388G						.						48.0	50.0	49.0					6																	35773835		2203	4300	6503	SO:0001583	missense	222662	exon1			AAGATCTGTGCAT	BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"""deafness, autosomal recessive 67"""	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.388T>G	6.37:g.35773835T>G	ENSP00000362960:p.Cys130Gly	90	0		85	14	NM_182548	0	0	0	0	0	B3KX66	Missense_Mutation	SNP	ENST00000373853.1	37	CCDS4812.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.344300	0.82022	.	.	ENSG00000197753	ENST00000373853;ENST00000360215	T;T	0.74209	-0.82;-0.82	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.86732	0.6003	M	0.89904	3.07	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.89298	0.3624	10	0.62326	D	0.03	-18.8885	15.8533	0.78952	0.0:0.0:0.0:1.0	.	130	Q8TAF8	TMHS_HUMAN	G	130	ENSP00000362960:C130G;ENSP00000353346:C130G	ENSP00000353346:C130G	C	+	1	0	LHFPL5	35881813	1.000000	0.71417	0.999000	0.59377	0.882000	0.50991	7.989000	0.88205	2.146000	0.66826	0.448000	0.29417	TGT	.		0.587	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040323.1	NM_182548	
PKHD1	5314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	51920447	51920447	+	Nonsense_Mutation	SNP	G	G	A			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr6:51920447G>A	ENST00000371117.3	-	19	2049	c.1774C>T	c.(1774-1776)Cga>Tga	p.R592*	PKHD1_ENST00000340994.4_Nonsense_Mutation_p.R592*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	592					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACAAGGTGTCGAGGCTGACGG	0.562																																					p.R592X		.											.	PKHD1-603	0			c.C1774T	GRCh37	CM051131	PKHD1	M		.						68.0	63.0	65.0					6																	51920447		2203	4300	6503	SO:0001587	stop_gained	5314	exon19			GGTGTCGAGGCTG	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.1774C>T	6.37:g.51920447G>A	ENSP00000360158:p.Arg592*	150	0		227	73	NM_170724	0	0	0	0	0	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Nonsense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	41	8.578065	0.98870	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	.	.	.	5.53	2.65	0.31530	.	1.020000	0.07836	N	0.962184	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	8.8072	0.34945	0.0:0.2379:0.4745:0.2876	.	.	.	.	X	592	.	ENSP00000341097:R592X	R	-	1	2	PKHD1	52028406	0.977000	0.34250	0.992000	0.48379	0.681000	0.39784	1.638000	0.37165	0.326000	0.23384	0.655000	0.94253	CGA	.		0.562	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
RIMS1	22999	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	73000415	73000415	+	Silent	SNP	C	C	T			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr6:73000415C>T	ENST00000521978.1	+	25	3588	c.3588C>T	c.(3586-3588)caC>caT	p.H1196H	RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000425662.2_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1196					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GAAGGGGACACGCAGCCCCAA	0.458																																					p.H1196H		.											.	RIMS1-144	0			c.C3588T						.						75.0	76.0	75.0					6																	73000415		1991	4169	6160	SO:0001819	synonymous_variant	22999	exon25			GGGACACGCAGCC	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3588C>T	6.37:g.73000415C>T		149	1		236	25	NM_014989	0	0	0	0	0	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Silent	SNP	ENST00000521978.1	37	CCDS47449.1																																																																																			.		0.458	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1		
TSPYL4	23270	bcgsc.ca	37	6	116574989	116574989	+	Silent	SNP	A	A	T			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr6:116574989A>T	ENST00000420283.1	-	1	272	c.183T>A	c.(181-183)ggT>ggA	p.G61G	DSE_ENST00000540275.1_5'Flank|RP3-486I3.7_ENST00000448740.2_lincRNA	NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	61					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		CCTGGGATGCACCCCCCTCCG	0.687																																					p.G61G		.											.	.	0			c.T183A						.						21.0	25.0	23.0					6																	116574989		2028	4191	6219	SO:0001819	synonymous_variant	23270	exon1			GGATGCACCCCCC		CCDS5106.1	6q22.1	2010-05-12			ENSG00000187189	ENSG00000187189			21559	protein-coding gene	gene with protein product							Standard	NM_021648		Approved	dJ486I3.2, KIAA0721	uc003pwn.3	Q9UJ04	OTTHUMG00000015429	ENST00000420283.1:c.183T>A	6.37:g.116574989A>T		64	0		49	10	NM_021648	0	0	8	8	0	B4DYQ2|O94828|Q96GW8	Silent	SNP	ENST00000420283.1	37	CCDS5106.1																																																																																			.		0.687	TSPYL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041934.2		
DSE	29940	bcgsc.ca	37	6	116754523	116754523	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr6:116754523G>A	ENST00000331677.3	+	6	1372	c.928G>A	c.(928-930)Gct>Act	p.A310T	DSE_ENST00000452085.3_Missense_Mutation_p.A310T|DSE_ENST00000359564.2_Missense_Mutation_p.A310T|DSE_ENST00000537543.1_Missense_Mutation_p.A329T			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	310					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		AAGGACTGTGGCTATTGCGGA	0.373																																					p.A310T		.											.	DSE-91	0			c.G928A						.						83.0	73.0	76.0					6																	116754523		1839	3468	5307	SO:0001583	missense	29940	exon5			ACTGTGGCTATTG	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.928G>A	6.37:g.116754523G>A	ENSP00000332151:p.Ala310Thr	116	0		87	14	NM_001080976	0	0	0	0	0	Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	37	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	G	32	5.174666	0.94807	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.19669	2.13;2.13;2.13;2.13	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.29684	0.0741	L	0.44542	1.39	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.964	T	0.00369	-1.1784	10	0.24483	T	0.36	-16.7862	20.3316	0.98722	0.0:0.0:1.0:0.0	.	329;310	B7Z765;Q9UL01	.;DSE_HUMAN	T	310;329;310;310	ENSP00000404049:A310T;ENSP00000441152:A329T;ENSP00000332151:A310T;ENSP00000352567:A310T	ENSP00000332151:A310T	A	+	1	0	DSE	116861216	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.809000	0.99208	2.871000	0.98454	0.655000	0.94253	GCT	.		0.373	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352	
DSE	29940	bcgsc.ca	37	6	116754526	116754526	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr6:116754526A>T	ENST00000331677.3	+	6	1375	c.931A>T	c.(931-933)Att>Ttt	p.I311F	DSE_ENST00000452085.3_Missense_Mutation_p.I311F|DSE_ENST00000359564.2_Missense_Mutation_p.I311F|DSE_ENST00000537543.1_Missense_Mutation_p.I330F			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	311					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		GACTGTGGCTATTGCGGACTC	0.373																																					p.I311F		.											.	DSE-91	0			c.A931T						.						83.0	73.0	77.0					6																	116754526		1855	3511	5366	SO:0001583	missense	29940	exon5			GTGGCTATTGCGG	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.931A>T	6.37:g.116754526A>T	ENSP00000332151:p.Ile311Phe	119	0		90	14	NM_001080976	0	0	0	0	0	Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	37	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.381292	0.82792	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.36193	0.0958	L	0.53249	1.67	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.13469	-1.0508	10	0.10636	T	0.68	-21.6546	16.3695	0.83350	1.0:0.0:0.0:0.0	.	330;311	B7Z765;Q9UL01	.;DSE_HUMAN	F	311;330;311;311	ENSP00000404049:I311F;ENSP00000441152:I330F;ENSP00000332151:I311F;ENSP00000352567:I311F	ENSP00000332151:I311F	I	+	1	0	DSE	116861219	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.283000	0.95860	2.315000	0.78130	0.533000	0.62120	ATT	.		0.373	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352	
HECA	51696	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	139498189	139498189	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr6:139498189G>A	ENST00000367658.2	+	4	1864	c.1579G>A	c.(1579-1581)Gac>Aac	p.D527N	RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000585447.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000590219.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	527					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		TGGGAACCTGGACTACCACTT	0.438																																					p.D527N		.											.	HECA-90	0			c.G1579A						.						104.0	87.0	93.0					6																	139498189		2203	4300	6503	SO:0001583	missense	51696	exon4			AACCTGGACTACC	AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.1579G>A	6.37:g.139498189G>A	ENSP00000356630:p.Asp527Asn	79	0		105	32	NM_016217	0	0	7	12	5		Missense_Mutation	SNP	ENST00000367658.2	37	CCDS5194.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856470	0.91355	.	.	ENSG00000112406	ENST00000367658	.	.	.	6.08	6.08	0.98989	.	0.110402	0.64402	D	0.000010	T	0.73001	0.3531	L	0.49126	1.545	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	T	0.73078	-0.4096	9	0.87932	D	0	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	527	Q9UBI9	HDC_HUMAN	N	527	.	ENSP00000356630:D527N	D	+	1	0	HECA	139539882	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.894000	0.99253	0.655000	0.94253	GAC	.		0.438	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1	NM_016217	
TULP4	56995	bcgsc.ca	37	6	158870081	158870081	+	Silent	SNP	A	A	G	rs705956	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr6:158870081A>G	ENST00000367097.3	+	4	1954	c.597A>G	c.(595-597)agA>agG	p.R199R	TULP4_ENST00000367094.2_Silent_p.R199R	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	199			R -> S (in dbSNP:rs705956).		intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GCCACGGCAGAATGCTGGCCC	0.612													G|||	3032	0.605431	0.7844	0.5288	5008	,	,		20217	0.3968		0.5895	False		,,,				2504	0.6493				p.R199R		.											.	TULP4-91	0			c.A597G						.	G	,	3371,1035	381.6+/-324.1	1305,761,137	166.0	121.0	136.0		597,597	3.5	1.0	6	dbSNP_86	136	5009,3591	519.7+/-379.5	1469,2071,760	no	coding-synonymous,coding-synonymous	TULP4	NM_001007466.1,NM_020245.3	,	2774,2832,897	GG,GA,AA		41.7558,23.4907,35.5682	,	199/679,199/1544	158870081	8380,4626	2203	4300	6503	SO:0001819	synonymous_variant	56995	exon4			CGGCAGAATGCTG		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.597A>G	6.37:g.158870081A>G		193	0		133	5	NM_020245	0	0	0	0	0	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	ENST00000367097.3	37	CCDS34561.1																																																																																			A|0.374;G|0.626		0.612	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245	
SLC22A3	6581	hgsc.bcm.edu	37	6	160769828	160769828	+	Missense_Mutation	SNP	C	C	G	rs113898574	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr6:160769828C>G	ENST00000275300.2	+	1	529	c.377C>G	c.(376-378)cCg>cGg	p.P126R	SLC22A3_ENST00000392145.1_Missense_Mutation_p.P126R	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	126					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|histamine uptake (GO:0051615)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|regulation of appetite (GO:0032098)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine transmembrane transporter activity (GO:0005329)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|toxin transporter activity (GO:0019534)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	CCCCTTGTGCCGTGCCGCGGC	0.721													C|||	3	0.000599042	0.0	0.0	5008	,	,		11911	0.0		0.001	False		,,,				2504	0.002				p.P126R		.											.	SLC22A3-517	0			c.C377G						.						4.0	4.0	4.0					6																	160769828		1554	3221	4775	SO:0001583	missense	6581	exon1			TTGTGCCGTGCCG	AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"""Solute carriers"""	10967	protein-coding gene	gene with protein product		604842	"""solute carrier family 22 (extraneuronal monoamine transporter), member 3"""			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.377C>G	6.37:g.160769828C>G	ENSP00000275300:p.Pro126Arg	1	0		8	6	NM_021977	0	0	0	7	7	Q5SYN6|Q9UP02	Missense_Mutation	SNP	ENST00000275300.2	37	CCDS5277.1	.	.	.	.	.	.	.	.	.	.	C	6.819	0.520320	0.13005	.	.	ENSG00000146477	ENST00000275300;ENST00000392145	T;T	0.74526	-0.85;-0.85	4.63	1.57	0.23409	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.421934	0.20996	N	0.081941	T	0.47893	0.1470	L	0.55834	1.745	0.09310	N	1	B	0.16166	0.016	B	0.16289	0.015	T	0.49735	-0.8908	10	0.52906	T	0.07	.	7.9342	0.29920	0.3242:0.5187:0.1571:0.0	.	126	O75751	S22A3_HUMAN	R	126	ENSP00000275300:P126R;ENSP00000375989:P126R	ENSP00000275300:P126R	P	+	2	0	SLC22A3	160689818	0.001000	0.12720	0.002000	0.10522	0.103000	0.19146	1.407000	0.34657	0.358000	0.24211	0.462000	0.41574	CCG	C|0.500;G|0.500		0.721	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	NM_021977	
SDK1	221935	broad.mit.edu;bcgsc.ca	37	7	4153774	4153774	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr7:4153774G>T	ENST00000404826.2	+	25	3830	c.3691G>T	c.(3691-3693)Gac>Tac	p.D1231Y	SDK1_ENST00000389531.3_Missense_Mutation_p.D1231Y	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1231	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGTCGTCAGTGACCGGCTGGA	0.607																																					p.D1231Y		.											.	SDK1-138	0			c.G3691T						.						61.0	61.0	61.0					7																	4153774		2203	4300	6503	SO:0001583	missense	221935	exon25			GTCAGTGACCGGC	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3691G>T	7.37:g.4153774G>T	ENSP00000385899:p.Asp1231Tyr	170	0		255	10	NM_152744	0	0	0	0	0	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893240	0.52121	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.57436	0.4;0.4	5.38	4.5	0.54988	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.066032	0.56097	D	0.000021	T	0.77219	0.4098	M	0.92219	3.285	0.49582	D	0.999802	D;D	0.89917	1.0;0.998	D;D	0.72982	0.979;0.954	T	0.82839	-0.0259	10	0.87932	D	0	.	13.5007	0.61454	0.0746:0.0:0.9254:0.0	.	1231;1231	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	Y	1231	ENSP00000385899:D1231Y;ENSP00000374182:D1231Y	ENSP00000374182:D1231Y	D	+	1	0	SDK1	4120300	1.000000	0.71417	0.900000	0.35374	0.878000	0.50629	4.436000	0.59948	2.507000	0.84556	0.655000	0.94253	GAC	.		0.607	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744	
TNRC18	84629	hgsc.bcm.edu	37	7	5353000	5353000	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr7:5353000C>A	ENST00000430969.1	-	27	7870	c.7522G>T	c.(7522-7524)Gcc>Tcc	p.A2508S	TNRC18_ENST00000399537.4_Missense_Mutation_p.A2508S	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2508							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)		CTGCTGCCGGCCGCGGGGGGA	0.731																																					p.A2508S		.											.	TNRC18-46	0			c.G7522T						.						6.0	6.0	6.0					7																	5353000		1539	3513	5052	SO:0001583	missense	84629	exon27			TGCCGGCCGCGGG	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.7522G>T	7.37:g.5353000C>A	ENSP00000395538:p.Ala2508Ser	7	0		60	11	NM_001080495	0	0	9	9	0	A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	CCDS47534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	0.011|0.011	-1.729360|-1.729360	0.00687|0.00687	.|.	.|.	ENSG00000182095|ENSG00000182095	ENST00000399537;ENST00000430969|ENST00000328270	T;T|.	0.11495|.	2.77;2.77|.	4.83|4.83	-0.356|-0.356	0.12583|0.12583	.|.	1.068350|.	0.07468|.	N|.	0.901853|.	T|T	0.28962|0.28962	0.0719|0.0719	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B|.	0.11235|.	0.004|.	B|.	0.09377|.	0.004|.	T|T	0.30031|0.30031	-0.9992|-0.9992	10|5	0.09084|.	T|.	0.74|.	.|.	9.2924|9.2924	0.37795|0.37795	0.0:0.3336:0.0:0.6664|0.0:0.3336:0.0:0.6664	.|.	2508|.	O15417|.	TNC18_HUMAN|.	S|V	2508|321	ENSP00000382452:A2508S;ENSP00000395538:A2508S|.	ENSP00000382452:A2508S|.	A|G	-|-	1|2	0|0	TNRC18|TNRC18	5319526|5319526	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.373000|-0.373000	0.07494|0.07494	-0.142000|-0.142000	0.11354|0.11354	-0.997000|-0.997000	0.02515|0.02515	GCC|GGC	.		0.731	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
TNS3	64759	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	47408816	47408816	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr7:47408816T>A	ENST00000398879.1	-	17	1793	c.1427A>T	c.(1426-1428)gAc>gTc	p.D476V	TNS3_ENST00000355730.3_Intron|TNS3_ENST00000311160.9_Missense_Mutation_p.D476V			Q68CZ2	TENS3_HUMAN	tensin 3	476					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						ATCCAGAATGTCTGTCTCCCG	0.612																																					p.D476V		.											.	TNS3-94	0			c.A1427T						.						59.0	65.0	63.0					7																	47408816		2163	4246	6409	SO:0001583	missense	64759	exon17			AGAATGTCTGTCT	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.1427A>T	7.37:g.47408816T>A	ENSP00000381854:p.Asp476Val	174	0		205	38	NM_022748	0	0	1	1	0	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	T	21.4	4.145525	0.77888	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000457718	D;D;D	0.96554	-3.88;-3.88;-4.05	5.45	5.45	0.79879	.	0.387944	0.26995	N	0.021441	D	0.97742	0.9259	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97634	1.0144	10	0.41790	T	0.15	-44.6165	13.4354	0.61082	0.0:0.0:0.0:1.0	.	476	Q68CZ2	TENS3_HUMAN	V	476;586;476;579	ENSP00000312143:D476V;ENSP00000381854:D476V;ENSP00000414358:D579V	ENSP00000312143:D476V	D	-	2	0	TNS3	47375341	1.000000	0.71417	0.995000	0.50966	0.950000	0.60333	6.134000	0.71689	2.056000	0.61249	0.533000	0.62120	GAC	.		0.612	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748	
PRRT4	401399	hgsc.bcm.edu;mdanderson.org	37	7	127991345	127991345	+	Silent	SNP	A	A	G			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr7:127991345A>G	ENST00000446477.2	-	6	2578	c.2265T>C	c.(2263-2265)gcT>gcC	p.A755A	PRRT4_ENST00000489835.2_Missense_Mutation_p.S411P|PRRT4_ENST00000435512.1_Silent_p.A549A|PRRT4_ENST00000535159.1_Silent_p.A755A	NM_001174164.1	NP_001167635.1	C9JH25	PRRT4_HUMAN	proline-rich transmembrane protein 4	755						integral component of membrane (GO:0016021)				endometrium(4)|prostate(1)	5						GCCCAGGCAGAGCGTCCTCGA	0.726																																					p.S411P		.											.	.	0			c.T1231C						.						5.0	8.0	7.0					7																	127991345		653	1521	2174	SO:0001819	synonymous_variant	401399	exon6			AGGCAGAGCGTCC	BC063892	CCDS47698.1, CCDS47698.2, CCDS55160.1	7q32.1	2011-10-10			ENSG00000224940	ENSG00000224940		"""Proline-rich transmembrane proteins"""	37280	protein-coding gene	gene with protein product							Standard	NM_001114726		Approved		uc022aky.1	C9JH25	OTTHUMG00000157714	ENST00000446477.2:c.2265T>C	7.37:g.127991345A>G		8	0		28	14	NM_001114726	0	0	0	0	0	A4D0Z9|C9JVW7	Missense_Mutation	SNP	ENST00000446477.2	37	CCDS55160.1	.	.	.	.	.	.	.	.	.	.	A	7.120	0.577737	0.13686	.	.	ENSG00000224940	ENST00000489835	.	.	.	3.99	2.16	0.27623	.	.	.	.	.	T	0.63271	0.2497	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62973	-0.6740	5	0.87932	D	0	-3.1956	8.1345	0.31046	0.205:0.0:0.795:0.0	.	.	.	.	P	411	.	ENSP00000419296:S411P	S	-	1	0	PRRT4	127778581	0.174000	0.23070	0.976000	0.42696	0.561000	0.35649	1.390000	0.34464	0.453000	0.26858	-0.381000	0.06696	TCT	.		0.726	PRRT4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001114726	
EPHB6	2051	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	142567581	142567581	+	Silent	SNP	T	T	C			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr7:142567581T>C	ENST00000392957.2	+	17	3256	c.2469T>C	c.(2467-2469)tgT>tgC	p.C823C	EPHB6_ENST00000411471.2_Silent_p.C546C|EPHB6_ENST00000442129.1_Silent_p.C823C	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	823	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GCCCAAGTTGTTTGCTTCGCT	0.448																																					p.C823C		.											.	EPHB6-1489	0			c.T2469C						.						87.0	78.0	81.0					7																	142567581		2203	4300	6503	SO:0001819	synonymous_variant	2051	exon17			AAGTTGTTTGCTT	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.2469T>C	7.37:g.142567581T>C		132	0		120	12	NM_004445	0	0	0	0	0	A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	37	CCDS5873.2																																																																																			.		0.448	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1		
NOS3	4846	broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	150704089	150704089	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr7:150704089C>G	ENST00000297494.3	+	16	2290	c.1933C>G	c.(1933-1935)Ctc>Gtc	p.L645V	NOS3_ENST00000461406.1_Missense_Mutation_p.L439V	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTGGGCACCCTCAGGTCAGG	0.642																																					p.L645V		.											.	NOS3-1011	0			c.C1933G						.						79.0	79.0	79.0					7																	150704089		2203	4300	6503	SO:0001583	missense	4846	exon16			GGCACCCTCAGGT		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.1933C>G	7.37:g.150704089C>G	ENSP00000297494:p.Leu645Val	133	0		176	20	NM_000603	0	0	0	0	0	Q495E5	Missense_Mutation	SNP	ENST00000297494.3	37	CCDS5912.1	.	.	.	.	.	.	.	.	.	.	C	0.957	-0.704610	0.03255	.	.	ENSG00000164867	ENST00000297494;ENST00000461406	T;T	0.71341	-0.56;-0.56	4.94	4.04	0.47022	Flavodoxin/nitric oxide synthase (2);	0.000000	0.52532	D	0.000065	T	0.40222	0.1108	N	0.02665	-0.54	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.004;0.003	T	0.42344	-0.9457	10	0.02654	T	1	-24.5031	12.6374	0.56690	0.167:0.833:0.0:0.0	.	439;645	E7ESA7;P29474	.;NOS3_HUMAN	V	645;439	ENSP00000297494:L645V;ENSP00000417143:L439V	ENSP00000297494:L645V	L	+	1	0	NOS3	150335022	0.968000	0.33430	1.000000	0.80357	0.600000	0.36913	1.942000	0.40243	1.189000	0.43028	0.505000	0.49811	CTC	.		0.642	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350750.2	NM_000603	
MIR596	693181	bcgsc.ca	37	8	1765425	1765425	+	RNA	SNP	T	T	C	rs61388742	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr8:1765425T>C	ENST00000385091.1	+	0	29					NR_030326.1				microRNA 596																		CCTGCCCGGCTCCTCGGGAAC	0.622													T|||	308	0.0615016	0.1021	0.085	5008	,	,		15783	0.001		0.1074	False		,,,				2504	0.0051				.		.											.	.	0			.						.	T		345,2791		15,315,1238	48.0	50.0	50.0			0.5	0.0	8	dbSNP_129	50	771,6393		27,717,2838	no	intergenic				42,1032,4076	CC,CT,TT		10.7621,11.0013,10.835			1765425	1116,9184	1568	3582	5150			693181	.			CCCGGCTCCTCGG			8p23.3	2011-09-12		2008-12-18	ENSG00000207826	ENSG00000207826		"""ncRNAs / Micro RNAs"""	32852	non-coding RNA	RNA, micro				MIRN596			Standard	NR_030326		Approved	hsa-mir-596	uc022aqo.1				8.37:g.1765425T>C		218	1		22	3	.	0	0	0	0	0		RNA	SNP	ENST00000385091.1	37																																																																																				T|0.922;C|0.078		0.622	MIR596-201	KNOWN	basic	miRNA	miRNA		NR_030326	
MYOM2	9172	ucsc.edu;bcgsc.ca	37	8	2037833	2037833	+	Silent	SNP	G	G	C	rs2294061	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr8:2037833G>C	ENST00000262113.4	+	15	1788	c.1647G>C	c.(1645-1647)tcG>tcC	p.S549S	MYOM2_ENST00000523438.1_5'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	549	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTTTGTAGTCGGTGGTGGGGA	0.557													C|||	1122	0.224042	0.4244	0.1628	5008	,	,		18049	0.2083		0.162	False		,,,				2504	0.0767				p.S549S		.											.	MYOM2-95	0			c.G1647C						.	C		1674,2732	650.5+/-399.1	321,1032,850	64.0	65.0	65.0		1647	-5.2	0.0	8	dbSNP_100	65	1257,7343	756.6+/-407.5	92,1073,3135	no	coding-synonymous	MYOM2	NM_003970.2		413,2105,3985	CC,CG,GG		14.6163,37.9936,22.5358		549/1466	2037833	2931,10075	2203	4300	6503	SO:0001819	synonymous_variant	9172	exon15			GTAGTCGGTGGTG		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1647G>C	8.37:g.2037833G>C		133	0		18	4	NM_003970	0	0	0	0	0	Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	CCDS5957.1																																																																																			G|0.783;C|0.217		0.557	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970	
CLDN23	137075	hgsc.bcm.edu	37	8	8560536	8560536	+	Missense_Mutation	SNP	G	G	A	rs12548737	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr8:8560536G>A	ENST00000519106.1	+	1	1089	c.628G>A	c.(628-630)Gtg>Atg	p.V210M		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	210			V -> M (in dbSNP:rs12548737).		calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		CACCATCCAAGTGGAGTGGCC	0.731													G|||	569	0.113618	0.0083	0.1916	5008	,	,		12622	0.1488		0.0954	False		,,,				2504	0.183				p.V210M		.											.	.	0			c.G628A						.	G	MET/VAL	84,3832		0,84,1874	5.0	8.0	7.0		628	2.3	0.8	8	dbSNP_120	7	857,7211		50,757,3227	yes	missense	CLDN23	NM_194284.2	21	50,841,5101	AA,AG,GG		10.6222,2.145,7.8521	possibly-damaging	210/293	8560536	941,11043	1958	4034	5992	SO:0001583	missense	137075	exon1			ATCCAAGTGGAGT	AK123547	CCDS55195.1	8p23.1	2006-04-12				ENSG00000253958		"""Claudins"""	17591	protein-coding gene	gene with protein product		609203				12736707	Standard	NM_194284		Approved	CLDNL	uc003wsi.3	Q96B33		ENST00000519106.1:c.628G>A	8.37:g.8560536G>A	ENSP00000428780:p.Val210Met	0	0		19	10	NM_194284	0	0	0	0	0	Q08AJ3	Missense_Mutation	SNP	ENST00000519106.1	37	CCDS55195.1	199	0.09111721611721611	8	0.016260162601626018	54	0.14917127071823205	69	0.12062937062937062	68	0.08970976253298153	G	12.41	1.930863	0.34096	0.02145	0.106222	ENSG00000253958	ENST00000519106	T	0.61859	0.07	4.12	2.31	0.28768	.	.	.	.	.	T	0.00300	0.0009	L	0.27053	0.805	0.40159	P	0.022958000000000034	P	0.48162	0.906	P	0.46585	0.521	T	0.03524	-1.1028	8	0.33940	T	0.23	.	8.182	0.31315	0.2087:0.0:0.7913:0.0	rs12548737	210	Q96B33	CLD23_HUMAN	M	210	ENSP00000428780:V210M	ENSP00000428780:V210M	V	+	1	0	CLDN23	8597946	0.949000	0.32298	0.846000	0.33378	0.051000	0.14879	3.623000	0.54224	1.090000	0.41315	0.407000	0.27541	GTG	G|0.907;A|0.093		0.731	CLDN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374721.1	NM_194284	
FDFT1	2222	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	11689040	11689040	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr8:11689040C>T	ENST00000220584.4	+	7	1115	c.893C>T	c.(892-894)gCc>gTc	p.A298V	FDFT1_ENST00000530664.1_Missense_Mutation_p.A234V|FDFT1_ENST00000443614.2_Missense_Mutation_p.A255V|FDFT1_ENST00000528643.1_Missense_Mutation_p.A213V|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000525777.1_Missense_Mutation_p.A213V|FDFT1_ENST00000528812.1_Missense_Mutation_p.A234V|FDFT1_ENST00000538689.1_Missense_Mutation_p.A187V|FDFT1_ENST00000525900.1_Missense_Mutation_p.A291V	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	298					cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	farnesyl-diphosphate farnesyltransferase activity (GO:0004310)|oxidoreductase activity (GO:0016491)|squalene synthase activity (GO:0051996)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		ATGGCCATTGCCACTTTGGCT	0.433																																					p.A298V		.											.	FDFT1-90	0			c.C893T						.						156.0	144.0	148.0					8																	11689040		2203	4300	6503	SO:0001583	missense	2222	exon7			CCATTGCCACTTT	X69141	CCDS5985.1, CCDS75696.1, CCDS75697.1	8p23.1-p22	2005-03-07			ENSG00000079459	ENSG00000079459	2.5.1.21		3629	protein-coding gene	gene with protein product	"""squalene synthase"""	184420					Standard	NM_001287742		Approved		uc003wui.3	P37268	OTTHUMG00000090801	ENST00000220584.4:c.893C>T	8.37:g.11689040C>T	ENSP00000220584:p.Ala298Val	176	0		272	155	NM_004462	0	2	337	1112	773	B3KQ95|B4DJE5|B4DT56|B7Z1J3|Q96GT0	Missense_Mutation	SNP	ENST00000220584.4	37	CCDS5985.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978747	0.74360	.	.	ENSG00000079459	ENST00000538689;ENST00000220584;ENST00000443614;ENST00000525900;ENST00000528812;ENST00000530664;ENST00000528643;ENST00000525777	T;T;T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	6.07	5.19	0.71726	Terpenoid synthase (2);	0.052610	0.85682	D	0.000000	D	0.86924	0.6050	M	0.94021	3.485	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.957;1.0;0.998;0.999	P;P;D;P;D	0.63381	0.841;0.859;0.914;0.756;0.914	D	0.89972	0.4094	10	0.54805	T	0.06	-20.3368	15.891	0.79299	0.1363:0.8637:0.0:0.0	.	131;255;355;291;298	B4DWP0;B4DJE5;B4DND3;E9PNM1;P37268	.;.;.;.;FDFT_HUMAN	V	187;298;255;291;234;234;213;213	ENSP00000444248:A187V;ENSP00000220584:A298V;ENSP00000390367:A255V;ENSP00000434714:A291V;ENSP00000431749:A234V;ENSP00000432331:A234V;ENSP00000431649:A213V;ENSP00000436069:A213V	ENSP00000220584:A298V	A	+	2	0	FDFT1	11726449	1.000000	0.71417	0.483000	0.27378	0.154000	0.21943	7.588000	0.82629	1.557000	0.49525	-0.182000	0.12963	GCC	.		0.433	FDFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207588.2		
MBOAT4	619373	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	29996184	29996184	+	Missense_Mutation	SNP	C	C	T	rs140611326	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr8:29996184C>T	ENST00000320542.3	-	2	292	c.208G>A	c.(208-210)Gct>Act	p.A70T		NM_001100916.1	NP_001094386.1	Q96T53	MBOA4_HUMAN	membrane bound O-acyltransferase domain containing 4	70					cellular protein metabolic process (GO:0044267)|peptidyl-serine octanoylation (GO:0018191)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	serine O-acyltransferase activity (GO:0016412)			endometrium(1)	1						AGAGCCACAGCGCAGACAGCA	0.587													C|||	2	0.000399361	0.0	0.0	5008	,	,		19289	0.001		0.0	False		,,,				2504	0.001				p.A70T		.											.	MBOAT4-68	0			c.G208A						.						43.0	49.0	47.0					8																	29996184		692	1591	2283	SO:0001583	missense	619373	exon2			CCACAGCGCAGAC	AF359269	CCDS47835.1	8p12	2008-08-04	2006-06-29	2006-06-29	ENSG00000177669	ENSG00000177669			32311	protein-coding gene	gene with protein product	"""ghrelin O-acyltransferase"""	611940	"""O-acyltransferase (membrane bound) domain containing 4"""	OACT4		18443287	Standard	NM_001100916		Approved	FKSG89, GOAT	uc010lvg.3	Q96T53	OTTHUMG00000163824	ENST00000320542.3:c.208G>A	8.37:g.29996184C>T	ENSP00000314196:p.Ala70Thr	314	0		338	72	NM_001100916	0	0	0	0	0	B1Q003	Missense_Mutation	SNP	ENST00000320542.3	37	CCDS47835.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	1.920	-0.448594	0.04572	.	.	ENSG00000177669	ENST00000320542	T	0.21543	2.0	5.44	-5.04	0.02964	.	.	.	.	.	T	0.10078	0.0247	N	0.24115	0.695	0.20307	N	0.999916	B	0.13594	0.008	B	0.04013	0.001	T	0.33497	-0.9866	8	.	.	.	.	5.1213	0.14862	0.3006:0.2561:0.0:0.4434	.	70	Q96T53	MBOA4_HUMAN	T	70	ENSP00000314196:A70T	.	A	-	1	0	MBOAT4	30115726	0.002000	0.14202	0.000000	0.03702	0.006000	0.05464	-0.094000	0.11094	-1.422000	0.02004	-1.552000	0.00895	GCT	C|1.000;T|0.000		0.587	MBOAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375795.1		
PAG1	55824	bcgsc.ca	37	8	81905397	81905397	+	Silent	SNP	A	A	G	rs2016465	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr8:81905397A>G	ENST00000220597.4	-	4	776	c.66T>C	c.(64-66)gcT>gcC	p.A22A		NM_018440.3	NP_060910.3	Q9NWQ8	PHAG1_HUMAN	phosphoprotein membrane anchor with glycosphingolipid microdomains 1	22					epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)|positive regulation of signal transduction (GO:0009967)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			TGGCGACAGCAGCCAGACTTC	0.567													G|||	2624	0.523962	0.8487	0.3156	5008	,	,		18022	0.5268		0.326	False		,,,				2504	0.4335				p.A22A		.											.	.	0			c.T66C						.	G		3250,1156	410.4+/-335.4	1214,822,167	81.0	75.0	77.0		66	-10.7	0.0	8	dbSNP_92	77	2778,5822	678.6+/-403.5	439,1900,1961	no	coding-synonymous	PAG1	NM_018440.3		1653,2722,2128	GG,GA,AA		32.3023,26.2369,46.3478		22/433	81905397	6028,6978	2203	4300	6503	SO:0001819	synonymous_variant	55824	exon4			GACAGCAGCCAGA	AF240634	CCDS6227.1	8q21.13	2014-04-30	2014-04-30						30043	protein-coding gene	gene with protein product	"""Csk-binding protein"", ""transmembrane adaptor protein PAG"""	605767	"""phosphoprotein associated with glycosphingolipid microdomains 1"""			10790433	Standard	XM_006716461		Approved	PAG, CBP	uc003ybz.3	Q9NWQ8		ENST00000220597.4:c.66T>C	8.37:g.81905397A>G		80	0		80	5	NM_018440	0	0	0	0	0	A8K1A3|Q2M1Z9|Q5BKU4|Q9NYK0	Silent	SNP	ENST00000220597.4	37	CCDS6227.1																																																																																			A|0.513;G|0.487		0.567	PAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379352.3	NM_018440	
SLC10A5	347051	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	82606283	82606283	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr8:82606283G>C	ENST00000518568.1	-	1	2126	c.925C>G	c.(925-927)Ctg>Gtg	p.L309V		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	309						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						ATAAAACTCAGAGGTCTAATT	0.343																																					p.L309V		.											.	SLC10A5-90	0			c.C925G						.						48.0	50.0	50.0					8																	82606283		2203	4300	6503	SO:0001583	missense	347051	exon1			AACTCAGAGGTCT		CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"""Solute carriers"""	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.925C>G	8.37:g.82606283G>C	ENSP00000428612:p.Leu309Val	30	0		39	16	NM_001010893	0	0	0	0	0	B2RN26	Missense_Mutation	SNP	ENST00000518568.1	37	CCDS34915.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.089407	0.36855	.	.	ENSG00000253598	ENST00000518568	T	0.12361	2.69	5.91	0.241	0.15494	.	0.161393	0.28847	N	0.013959	T	0.08088	0.0202	L	0.28776	0.89	0.28145	N	0.929642	P	0.43578	0.811	P	0.45660	0.489	T	0.16482	-1.0401	10	0.07482	T	0.82	-8.9032	2.6871	0.05110	0.3605:0.0:0.2977:0.3418	.	309	Q5PT55	NTCP5_HUMAN	V	309	ENSP00000428612:L309V	ENSP00000428612:L309V	L	-	1	2	SLC10A5	82768838	1.000000	0.71417	0.984000	0.44739	0.956000	0.61745	1.843000	0.39259	0.101000	0.17610	0.585000	0.79938	CTG	.		0.343	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	XM_294493	
ZFPM2	23414	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	106814462	106814462	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr8:106814462C>G	ENST00000407775.2	+	8	2402	c.2152C>G	c.(2152-2154)Ctg>Gtg	p.L718V	RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.L449V|ZFPM2_ENST00000520492.1_Missense_Mutation_p.L586V|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.L586V|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	718					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CGACCCTCCACTGAAGAGGTC	0.498																																					p.L718V		.											.	ZFPM2-139	0			c.C2152G						.						53.0	52.0	52.0					8																	106814462		2075	4209	6284	SO:0001583	missense	23414	exon8			CCTCCACTGAAGA	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2152C>G	8.37:g.106814462C>G	ENSP00000384179:p.Leu718Val	131	0		137	67	NM_012082	0	0	1	1	0	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.666934	0.29604	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.19669	2.13;2.62;2.62;3.82	5.72	5.72	0.89469	.	0.051609	0.85682	D	0.000000	T	0.17323	0.0416	L	0.52573	1.65	0.45733	D	0.998631	P	0.40083	0.702	B	0.30782	0.12	T	0.03086	-1.1074	10	0.26408	T	0.33	.	13.1265	0.59358	0.0:0.927:0.0:0.073	.	718	Q8WW38	FOG2_HUMAN	V	718;586;586;449	ENSP00000384179:L718V;ENSP00000430757:L586V;ENSP00000428720:L586V;ENSP00000367733:L449V	ENSP00000367733:L449V	L	+	1	2	ZFPM2	106883638	0.993000	0.37304	0.624000	0.29186	0.960000	0.62799	3.098000	0.50259	2.708000	0.92522	0.561000	0.74099	CTG	.		0.498	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1		
PKHD1L1	93035	bcgsc.ca	37	8	110448635	110448635	+	Missense_Mutation	SNP	A	A	G	rs10093885	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr8:110448635A>G	ENST00000378402.5	+	30	3678	c.3574A>G	c.(3574-3576)Acc>Gcc	p.T1192A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1192	IPT/TIG 5.		T -> A (in dbSNP:rs10093885).		immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGGAAATGAAACCTGCAATGT	0.363										HNSCC(38;0.096)			A|||	1095	0.21865	0.3502	0.1542	5008	,	,		17494	0.002		0.2058	False		,,,				2504	0.3231				p.T1192A		.											.	PKHD1L1-145	0			c.A3574G						.	A	ALA/THR	1156,2542		197,762,890	107.0	109.0	108.0		3574	2.9	1.0	8	dbSNP_119	108	1758,6452		185,1388,2532	yes	missense	PKHD1L1	NM_177531.4	58	382,2150,3422	GG,GA,AA		21.4129,31.2601,24.4709	benign	1192/4244	110448635	2914,8994	1849	4105	5954	SO:0001583	missense	93035	exon30			AATGAAACCTGCA	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.3574A>G	8.37:g.110448635A>G	ENSP00000367655:p.Thr1192Ala	75	0		87	4	NM_177531	0	0	0	0	0	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	365	0.1671245421245421	144	0.2926829268292683	67	0.1850828729281768	1	0.0017482517482517483	153	0.20184696569920843	A	6.168	0.399236	0.11696	0.312601	0.214129	ENSG00000205038	ENST00000378402	T	0.75260	-0.92	5.44	2.94	0.34122	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.799156	0.11566	N	0.551296	T	0.00012	0.0000	L	0.37750	1.13	0.49915	P	1.64000000000053E-4	B	0.14012	0.009	B	0.18561	0.022	T	0.08889	-1.0700	9	0.07990	T	0.79	.	8.0511	0.30579	0.6885:0.0:0.0:0.3115	rs10093885;rs52794058;rs58325250;rs10093885	1192	Q86WI1	PKHL1_HUMAN	A	1192	ENSP00000367655:T1192A	ENSP00000367655:T1192A	T	+	1	0	PKHD1L1	110517811	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.811000	0.38942	0.314000	0.23086	0.533000	0.62120	ACC	A|0.801;G|0.199		0.363	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
PLEC	5339	hgsc.bcm.edu	37	8	144998169	144998169	+	Silent	SNP	C	C	T	rs1140522	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr8:144998169C>T	ENST00000322810.4	-	31	6508	c.6339G>A	c.(6337-6339)gcG>gcA	p.A2113A	PLEC_ENST00000356346.3_Silent_p.A1962A|PLEC_ENST00000354958.2_Silent_p.A1954A|PLEC_ENST00000527096.1_Silent_p.A1999A|PLEC_ENST00000345136.3_Silent_p.A1976A|PLEC_ENST00000436759.2_Silent_p.A2003A|PLEC_ENST00000354589.3_Silent_p.A1976A|PLEC_ENST00000357649.2_Silent_p.A1980A|PLEC_ENST00000398774.2_Silent_p.A1944A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2113	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTCCTCCGCCGCCAGCTGCC	0.741													C|||	1156	0.230831	0.028	0.2968	5008	,	,		12421	0.1429		0.4274	False		,,,				2504	0.3466				p.A2113A		.											.	PLEC-141	0			c.G6339A						.	C	,,,,,,,	297,3657		19,259,1699	5.0	7.0	6.0		6009,5886,5862,6339,5832,5928,5940,5928	-8.9	0.0	8	dbSNP_86	6	2901,4993		551,1799,1597	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	570,2058,3296	TT,TC,CC		36.7494,7.5114,26.9919	,,,,,,,	2003/4575,1962/4534,1954/4526,2113/4685,1944/4516,1976/4548,1980/4552,1976/4548	144998169	3198,8650	1977	3947	5924	SO:0001819	synonymous_variant	5339	exon31			CTCCGCCGCCAGC	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6339G>A	8.37:g.144998169C>T		0	0		4	4	NM_201380	0	0	0	4	4	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			C|0.740;T|0.260		0.741	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
PLEC	5339	hgsc.bcm.edu	37	8	144998190	144998190	+	Silent	SNP	A	A	G	rs2857829	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr8:144998190A>G	ENST00000322810.4	-	31	6487	c.6318T>C	c.(6316-6318)gcT>gcC	p.A2106A	PLEC_ENST00000356346.3_Silent_p.A1955A|PLEC_ENST00000354958.2_Silent_p.A1947A|PLEC_ENST00000527096.1_Silent_p.A1992A|PLEC_ENST00000345136.3_Silent_p.A1969A|PLEC_ENST00000436759.2_Silent_p.A1996A|PLEC_ENST00000354589.3_Silent_p.A1969A|PLEC_ENST00000357649.2_Silent_p.A1973A|PLEC_ENST00000398774.2_Silent_p.A1937A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2106	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTGCCTCGCAGCCTCCAGCT	0.746													a|||	1156	0.230831	0.028	0.2968	5008	,	,		12955	0.1429		0.4274	False		,,,				2504	0.3466				p.A2106A		.											.	PLEC-141	0			c.T6318C						.	G	,,,,,,,	343,3813		21,301,1756	7.0	8.0	8.0		5988,5865,5841,6318,5811,5907,5919,5907	-8.1	0.0	8	dbSNP_100	8	3082,5166		620,1842,1662	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	641,2143,3418	GG,GA,AA		37.3666,8.2531,27.6121	,,,,,,,	1996/4575,1955/4534,1947/4526,2106/4685,1937/4516,1969/4548,1973/4552,1969/4548	144998190	3425,8979	2078	4124	6202	SO:0001819	synonymous_variant	5339	exon31			CCTCGCAGCCTCC	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6318T>C	8.37:g.144998190A>G		0	0		9	9	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			A|0.738;G|0.262		0.746	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
SCRT1	83482	hgsc.bcm.edu	37	8	145557497	145557497	+	Missense_Mutation	SNP	A	A	C	rs7013127	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr8:145557497A>C	ENST00000332135.4	-	2	508	c.397T>G	c.(397-399)Tct>Gct	p.S133A		NM_031309.4	NP_112599.2	Q9BWW7	SCRT1_HUMAN	scratch family zinc finger 1	133			S -> A (in dbSNP:rs7013127). {ECO:0000269|Ref.2}.		negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron migration (GO:2001222)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|upper_aerodigestive_tract(1)	3	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GCGGCGGCAGAGCCGGCATTG	0.776													c|||	4719	0.942292	0.9418	0.9568	5008	,	,		3920	0.9921		0.8956	False		,,,				2504	0.9294				p.S133A		.											.	.	0			c.T397G						.						1.0	1.0	1.0					8																	145557497		634	1472	2106	SO:0001583	missense	83482	exon2			CGGCAGAGCCGGC	BC014675	CCDS6421.1	8q24.3	2013-10-09	2013-10-09		ENSG00000170616	ENSG00000261678		"""Zinc fingers, C2H2-type"""	15950	protein-coding gene	gene with protein product		605858	"""scratch (drosophila homolog) 1, zinc finger protein"", ""scratch homolog 1, zinc finger protein (Drosophila)"""			11274425	Standard	NM_031309		Approved	DKFZp547F072, ZNF898	uc003zbw.1	Q9BWW7	OTTHUMG00000165229	ENST00000332135.4:c.397T>G	8.37:g.145557497A>C	ENSP00000331692:p.Ser133Ala	0	0		4	4	NM_031309	0	0	0	0	0	A8MX66|Q96C52	Missense_Mutation	SNP	ENST00000332135.4	37	CCDS6421.1	1975	0.9043040293040293	396	0.8048780487804879	339	0.93646408839779	552	0.965034965034965	688	0.9076517150395779	c	0.007	-1.995963	0.00435	.	.	ENSG00000170616	ENST00000332135	T	0.06933	3.24	0.926	-0.0566	0.13805	.	.	.	.	.	T	0.00012	0.0000	N	0.02539	-0.55	0.58432	P	5.999999999950489E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.33879	-0.9851	8	0.05525	T	0.97	5.8842	6.2142	0.20646	0.3034:0.6966:0.0:0.0	rs7013127	133	Q9BWW7	SCRT1_HUMAN	A	133	ENSP00000331692:S133A	ENSP00000331692:S133A	S	-	1	0	SCRT1	145528305	.	.	0.675000	0.29917	0.381000	0.30169	.	.	-1.712000	0.01393	-3.289000	0.00047	TCT	A|0.096;C|0.904		0.776	SCRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382800.2	NM_031309	
MSMP	692094	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	35752652	35752652	+	IGR	SNP	C	C	A			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr9:35752652C>A	ENST00000436428.2	-	0	670				GBA2_ENST00000545786.1_5'Flank|RGP1_ENST00000456972.2_Silent_p.S359S|RGP1_ENST00000378078.4_Silent_p.S319S|MSMP_ENST00000414286.1_5'Flank	NM_001044264.2	NP_001037729.1	Q1L6U9	MSMP_HUMAN	microseminoprotein, prostate associated							cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(2)|kidney(1)|lung(3)|prostate(3)	9						CCATAGTGTCCTTGAAGTGGA	0.443																																					p.S319S		.											.	RGP1-23	0			c.C957A						.						80.0	67.0	71.0					9																	35752652		1897	4122	6019	SO:0001628	intergenic_variant	9827	exon9			AGTGTCCTTGAAG	DQ012170	CCDS43797.1	9p13.3	2012-10-02			ENSG00000215183	ENSG00000215183			29663	protein-coding gene	gene with protein product		612191				17338636	Standard	NM_001044264		Approved	PC-3, PSMP	uc003zyb.2	Q1L6U9	OTTHUMG00000019882		9.37:g.35752652C>A		150	0		144	41	NM_001080496	0	0	0	0	0		Silent	SNP	ENST00000436428.2	37	CCDS43797.1																																																																																			.		0.443	MSMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052384.2	NM_001044264	
SLC28A3	64078	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	86920229	86920229	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr9:86920229C>T	ENST00000376238.4	-	4	323	c.274G>A	c.(274-276)Ggt>Agt	p.G92S	SLC28A3_ENST00000495823.1_5'UTR|SLC28A3_ENST00000537648.1_Missense_Mutation_p.G23S	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	92					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	CTACAGAAACCACATACTGTG	0.393																																					p.G92S	Ovarian(106;425 1539 34835 42413 43572)	.											.	SLC28A3-94	0			c.G274A						.						148.0	133.0	138.0					9																	86920229		2203	4300	6503	SO:0001583	missense	64078	exon4			AGAAACCACATAC	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"""Solute carriers"""	16484	protein-coding gene	gene with protein product		608269	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.274G>A	9.37:g.86920229C>T	ENSP00000365413:p.Gly92Ser	106	0		89	32	NM_001199633	0	0	0	0	0	A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Missense_Mutation	SNP	ENST00000376238.4	37	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	C	3.049	-0.195872	0.06259	.	.	ENSG00000197506	ENST00000376238;ENST00000537648	T;T	0.76448	-1.02;-1.02	5.49	4.59	0.56863	.	0.742560	0.13615	N	0.374848	T	0.43010	0.1228	N	0.01352	-0.895	0.09310	N	1	B;B	0.13145	0.001;0.007	B;B	0.06405	0.001;0.002	T	0.45145	-0.9281	10	0.05351	T	0.99	-3.818	4.8823	0.13686	0.1514:0.6209:0.1467:0.0811	.	23;92	B4E2S8;Q9HAS3	.;S28A3_HUMAN	S	92;23	ENSP00000365413:G92S;ENSP00000446438:G23S	ENSP00000365413:G92S	G	-	1	0	SLC28A3	86110049	0.009000	0.17119	0.017000	0.16124	0.171000	0.22731	1.068000	0.30629	1.435000	0.47434	0.655000	0.94253	GGT	.		0.393	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127	
ASPN	54829	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	95233050	95233050	+	Silent	SNP	G	G	T			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr9:95233050G>T	ENST00000375544.3	-	3	531	c.288C>A	c.(286-288)gtC>gtA	p.V96V	CENPP_ENST00000375587.3_Intron|ASPN_ENST00000450139.2_Silent_p.V68V|ASPN_ENST00000375543.1_Silent_p.V96V|ASPN_ENST00000395538.3_Silent_p.V96V	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	96	LRRNT.				bone mineralization (GO:0030282)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						TGTTGGTTGGGACTGAGGTCA	0.284																																					p.V96V		.											.	ASPN-514	0			c.C288A						.						77.0	82.0	80.0					9																	95233050		2200	4289	6489	SO:0001819	synonymous_variant	54829	exon3			GGTTGGGACTGAG	AF316824		9q22.31	2008-05-14	2007-02-15		ENSG00000106819	ENSG00000106819		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	14872	protein-coding gene	gene with protein product	"""asporin proteoglycan"""	608135	"""asporin (LRR class 1)"""				Standard	NM_017680		Approved	FLJ20129, SLRR1C, PLAP1	uc004ase.2	Q9BXN1	OTTHUMG00000020227	ENST00000375544.3:c.288C>A	9.37:g.95233050G>T		85	0		98	36	NM_001193335	0	0	8	8	0	Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Silent	SNP	ENST00000375544.3	37																																																																																				.		0.284	ASPN-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053094.1	NM_017680	
ASPN	54829	hgsc.bcm.edu	37	9	95237024	95237024	+	Missense_Mutation	SNP	C	C	A	rs113747060|rs71362392|rs111419727|rs3078372|rs397838876|rs376433743|rs557103556	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr9:95237024C>A	ENST00000375544.3	-	2	399	c.156G>T	c.(154-156)gaG>gaT	p.E52D	CENPP_ENST00000375587.3_Intron|ASPN_ENST00000450139.2_Missense_Mutation_p.E24D|ASPN_ENST00000375543.1_Missense_Mutation_p.E52D|ASPN_ENST00000395538.3_Missense_Mutation_p.E52D	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	52	Poly-Asp.				bone mineralization (GO:0030282)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						GAGAGTTGTCCtcatcatcat	0.398																																					p.E52D		.											.	ASPN-514	0			c.G156T						.						114.0	105.0	108.0					9																	95237024		2203	4300	6503	SO:0001583	missense	54829	exon2			GTTGTCCTCATCA	AF316824		9q22.31	2008-05-14	2007-02-15		ENSG00000106819	ENSG00000106819		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	14872	protein-coding gene	gene with protein product	"""asporin proteoglycan"""	608135	"""asporin (LRR class 1)"""				Standard	NM_017680		Approved	FLJ20129, SLRR1C, PLAP1	uc004ase.2	Q9BXN1	OTTHUMG00000020227	ENST00000375544.3:c.156G>T	9.37:g.95237024C>A	ENSP00000364694:p.Glu52Asp	122	0		140	4	NM_001193335	0	0	1	1	0	Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Missense_Mutation	SNP	ENST00000375544.3	37		.	.	.	.	.	.	.	.	.	.	C	4.117	0.019984	0.08006	.	.	ENSG00000106819	ENST00000375544;ENST00000375543;ENST00000395538;ENST00000450139	T;T;T	0.54279	0.58;1.1;1.1	5.02	-4.61	0.03380	.	1.173110	0.06296	N	0.700091	T	0.14270	0.0345	N	0.00268	-1.735	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25467	-1.0131	10	0.12766	T	0.61	.	7.4765	0.27378	0.3957:0.2175:0.3868:0.0	.	52;52	Q5TBF2;Q9BXN1	.;ASPN_HUMAN	D	52;52;52;24	ENSP00000364694:E52D;ENSP00000364693:E52D;ENSP00000378909:E52D	ENSP00000364693:E52D	E	-	3	2	ASPN	94276845	0.675000	0.27558	0.000000	0.03702	0.005000	0.04900	-0.788000	0.04614	-1.088000	0.03077	-0.867000	0.03001	GAG	.		0.398	ASPN-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053094.1	NM_017680	
KIAA0368	23392	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	114246951	114246951	+	Silent	SNP	T	T	C			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr9:114246951T>C	ENST00000259335.4	-	1	74	c.75A>G	c.(73-75)aaA>aaG	p.K25K	KIAA0368_ENST00000338205.5_5'Flank	NM_001080398.1	NP_001073867.1	Q5VYK3	ECM29_HUMAN	KIAA0368	0					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CCCTATGTTCTTTTCGGTAAC	0.373																																					p.K25K		.											.	KIAA0368-68	0			c.A75G						.						233.0	225.0	228.0					9																	114246951		1880	4119	5999	SO:0001819	synonymous_variant	23392	exon1			ATGTTCTTTTCGG	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000259335.4:c.75A>G	9.37:g.114246951T>C		123	0		64	12	NM_001080398	0	0	0	0	0	O15074|Q8WU82	Silent	SNP	ENST00000259335.4	37	CCDS48006.1																																																																																			.		0.373	KIAA0368-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014686	
RNF183	138065	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	116060043	116060043	+	Missense_Mutation	SNP	G	G	A	rs146147048		TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr9:116060043G>A	ENST00000478815.1	-	1	2002	c.422C>T	c.(421-423)aCg>aTg	p.T141M	RNF183_ENST00000478493.1_5'Flank|RNF183_ENST00000441031.3_Missense_Mutation_p.T141M|RNF183_ENST00000297894.5_Missense_Mutation_p.T141M|RNF183_ENST00000416588.2_Missense_Mutation_p.T141M			Q96D59	RN183_HUMAN	ring finger protein 183	141						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			lung(1)|prostate(1)|skin(1)	3						GAGGATGGGCGTAGACACGGT	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		16661	0.0		0.001	False		,,,				2504	0.0				p.T141M		.											.	RNF183-90	0			c.C422T						.	G	MET/THR	0,4012		0,0,2006	58.0	64.0	62.0		422	-7.1	0.0	9	dbSNP_134	62	7,8313		0,7,4153	yes	missense	RNF183	NM_145051.3	81	0,7,6159	AA,AG,GG		0.0841,0.0,0.0568	benign	141/193	116060043	7,12325	2006	4160	6166	SO:0001583	missense	138065	exon2			ATGGGCGTAGACA		CCDS43866.1	9q32	2007-04-24			ENSG00000165188	ENSG00000165188		"""RING-type (C3HC4) zinc fingers"""	28721	protein-coding gene	gene with protein product						12477932	Standard	NM_145051		Approved	MGC4734	uc004bgz.3	Q96D59	OTTHUMG00000020520	ENST00000478815.1:c.422C>T	9.37:g.116060043G>A	ENSP00000419454:p.Thr141Met	210	0		171	33	NM_145051	0	0	0	0	0		Missense_Mutation	SNP	ENST00000478815.1	37	CCDS43866.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	2.156	-0.393418	0.04899	0.0	8.41E-4	ENSG00000165188	ENST00000441031;ENST00000416588;ENST00000478815;ENST00000297894	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	4.52	-7.1	0.01547	.	2.171280	0.01874	N	0.037437	T	0.07234	0.0183	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32188	-0.9916	10	0.46703	T	0.11	-9.7474	7.4491	0.27227	0.3655:0.4709:0.1636:0.0	.	141	Q96D59	RN183_HUMAN	M	141	ENSP00000417176:T141M;ENSP00000420740:T141M;ENSP00000419454:T141M;ENSP00000417943:T141M	ENSP00000417943:T141M	T	-	2	0	RNF183	115099864	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.531000	0.06171	-1.479000	0.01867	-1.199000	0.01669	ACG	G|0.999;A|0.000		0.627	RNF183-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356360.1	NM_145051	
CACNA1B	774	broad.mit.edu	37	9	140953592	140953592	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr9:140953592C>G	ENST00000371372.1	+	30	4680	c.4535C>G	c.(4534-4536)tCc>tGc	p.S1512C	CACNA1B_ENST00000371355.4_Missense_Mutation_p.S1513C|CACNA1B_ENST00000371357.1_Missense_Mutation_p.S1513C|CACNA1B_ENST00000277549.5_Missense_Mutation_p.S708C|CACNA1B_ENST00000371363.1_Missense_Mutation_p.S1512C|CACNA1B_ENST00000277551.2_Missense_Mutation_p.S1512C	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1512					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGTTCACATCCATGTTCTCC	0.507																																					p.S1512C		.											.	CACNA1B-138	0			c.C4535G						.						142.0	135.0	137.0					9																	140953592		2154	4242	6396	SO:0001583	missense	774	exon30			TCACATCCATGTT	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.4535C>G	9.37:g.140953592C>G	ENSP00000360423:p.Ser1512Cys	426	0		303	7	NM_001243812	0	0	0	0	0	B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424709	0.83667	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98;-4.98;-4.98	5.46	5.46	0.80206	.	0.303340	0.37304	N	0.002159	D	0.98005	0.9343	L	0.41906	1.305	0.49299	D	0.999776	D;B;B	0.57571	0.98;0.105;0.105	P;B;B	0.58928	0.848;0.064;0.064	D	0.98395	1.0565	10	0.51188	T	0.08	.	19.7249	0.96160	0.0:1.0:0.0:0.0	.	1512;1513;1512	B1AQK4;B1AQK7;B1AQK6	.;.;.	C	1512;1512;708;1512;1513;1513	ENSP00000360423:S1512C;ENSP00000277551:S1512C;ENSP00000277549:S708C;ENSP00000360414:S1512C;ENSP00000360408:S1513C;ENSP00000360406:S1513C	ENSP00000277549:S708C	S	+	2	0	CACNA1B	140073413	0.867000	0.29959	0.997000	0.53966	0.989000	0.77384	2.043000	0.41231	2.746000	0.94184	0.644000	0.83932	TCC	.		0.507	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	
CSF2RA	1438	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	1413336	1413336	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chrX:1413336G>T	ENST00000381524.3	+	8	948	c.762G>T	c.(760-762)caG>caT	p.Q254H	CSF2RA_ENST00000355432.3_Missense_Mutation_p.Q254H|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000432318.2_Missense_Mutation_p.Q254H|BX649553.2_ENST00000578699.1_RNA|BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000417535.2_Missense_Mutation_p.Q254H|CSF2RA_ENST00000361536.3_Missense_Mutation_p.Q254H|CSF2RA_ENST00000381500.1_Missense_Mutation_p.Q254H|CSF2RA_ENST00000381529.3_Missense_Mutation_p.Q254H|CSF2RA_ENST00000381509.3_Missense_Mutation_p.Q254H|CSF2RA_ENST00000355805.2_Intron|BX649553.1_ENST00000583047.1_RNA|MIR3690_ENST00000580266.1_RNA|BX649553.4_ENST00000580687.1_RNA|CSF2RA_ENST00000501036.2_Missense_Mutation_p.Q121H			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	254	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		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)			Sargramostim(DB00020)	TTCAGTACCAGCTGGACGTCC	0.627																																					p.Q254H	Esophageal Squamous(131;723 1707 25334 40494 41806)	.											.	CSF2RA-42	0			c.G762T						.						222.0	182.0	196.0					X																	1413336		2203	4296	6499	SO:0001583	missense	1438	exon6			GTACCAGCTGGAC	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.762G>T	X.37:g.1413336G>T	ENSP00000370935:p.Gln254His	702	2		693	303	NM_172247	0	0	2	2	0	A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	11.93	1.785338	0.31593	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000501036;ENST00000381524;ENST00000381509;ENST00000355432;ENST00000417535;ENST00000381500	D;D;D;D;D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07	1.54	0.568	0.17333	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.114434	0.34986	U	0.003524	D	0.87989	0.6317	.	.	.	0.09310	N	1	D;D;D;D;D	0.71674	0.998;0.996;0.998;0.998;0.996	D;P;D;D;P	0.69479	0.951;0.894;0.964;0.927;0.894	T	0.78046	-0.2357	9	0.72032	D	0.01	.	4.0106	0.09621	0.26:0.0:0.74:0.0	.	254;254;254;254;254	P15509-2;A7J003;P15509-3;P15509-5;P15509	.;.;.;.;CSF2R_HUMAN	H	254;254;254;254;121;254;254;254;254;254	ENSP00000370940:Q254H;ENSP00000416437:Q254H;ENSP00000354836:Q254H;ENSP00000440491:Q121H;ENSP00000370935:Q254H;ENSP00000370920:Q254H;ENSP00000347606:Q254H;ENSP00000394227:Q254H;ENSP00000370911:Q254H	ENSP00000347606:Q254H	Q	+	3	2	CSF2RA	1373336	0.095000	0.21747	0.926000	0.36857	0.307000	0.27823	0.412000	0.21131	-0.018000	0.14079	0.100000	0.15512	CAG	.		0.627	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2		
DDX53	168400	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	23018850	23018850	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chrX:23018850G>A	ENST00000327968.5	+	1	764	c.676G>A	c.(676-678)Gct>Act	p.A226T	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	226						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						GTTTAAAGACGCTTTTCAGCA	0.403																																					p.A226T		.											.	DDX53-228	0			c.G676A						.						69.0	66.0	67.0					X																	23018850		2203	4300	6503	SO:0001583	missense	168400	exon1			AAAGACGCTTTTC	AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"""DEAD-boxes"""	20083	protein-coding gene	gene with protein product	"""cancer associated gene"", ""cancer/testis antigen 26"""						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.676G>A	X.37:g.23018850G>A	ENSP00000368667:p.Ala226Thr	234	1		340	99	NM_182699	0	0	0	0	0	Q0D2N2|Q6NVV4	Missense_Mutation	SNP	ENST00000327968.5	37	CCDS35214.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017821	0.75161	.	.	ENSG00000184735	ENST00000327968	T	0.23348	1.91	3.87	3.87	0.44632	RNA helicase, DEAD-box type, Q motif (1);	0.120378	0.56097	D	0.000037	T	0.46288	0.1385	M	0.67397	2.05	0.49389	D	0.999785	D	0.89917	1.0	D	0.69479	0.964	T	0.50021	-0.8876	10	0.87932	D	0	-9.5282	12.7011	0.57034	0.0:0.0:1.0:0.0	.	226	Q86TM3	DDX53_HUMAN	T	226	ENSP00000368667:A226T	ENSP00000368667:A226T	A	+	1	0	DDX53	22928771	1.000000	0.71417	0.149000	0.22428	0.008000	0.06430	7.781000	0.85668	1.936000	0.56123	0.600000	0.82982	GCT	.		0.403	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	NM_182699	
GPR173	54328	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	53106284	53106284	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chrX:53106284G>C	ENST00000332582.4	+	2	972	c.481G>C	c.(481-483)Gac>Cac	p.D161H		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	161					negative regulation of neuron migration (GO:2001223)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|gonadotropin-releasing hormone receptor activity (GO:0004968)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						ACCTGTCTTTGACGTGGGCAC	0.567																																					p.D161H		.											.	GPR173-130	0			c.G481C						.						52.0	44.0	47.0					X																	53106284		2203	4300	6503	SO:0001583	missense	54328	exon2			GTCTTTGACGTGG	AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"""GPCR / Class A : Orphans"""	18186	protein-coding gene	gene with protein product		300253	"""G-protein coupled receptor 173"", ""G protein coupled receptor 173"""			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.481G>C	X.37:g.53106284G>C	ENSP00000331600:p.Asp161His	205	0		247	49	NM_018969	0	0	0	0	0	B1B0A5	Missense_Mutation	SNP	ENST00000332582.4	37	CCDS14349.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.235616	0.58886	.	.	ENSG00000184194	ENST00000332582	T	0.71579	-0.58	4.17	4.17	0.49024	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.80839	0.4700	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.82932	-0.0212	10	0.72032	D	0.01	-8.2243	13.0854	0.59138	0.0:0.0:1.0:0.0	.	161	Q9NS66	GP173_HUMAN	H	161	ENSP00000331600:D161H	ENSP00000331600:D161H	D	+	1	0	GPR173	53123009	1.000000	0.71417	0.929000	0.37066	0.918000	0.54935	7.803000	0.85983	1.941000	0.56285	0.529000	0.55759	GAC	.		0.567	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056717.2	NM_018969	
AR	367	hgsc.bcm.edu	37	X	66765164	66765164	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chrX:66765164A>T	ENST00000374690.3	+	1	700	c.176A>T	c.(175-177)cAg>cTg	p.Q59L	AR_ENST00000504326.1_Missense_Mutation_p.Q59L|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.Q59L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	59	Gln-rich.|Modulating.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|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)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CTGCTgcagcagcagcagcag	0.677									Androgen Insensitivity Syndrome																												p.Q59L		.											.	AR-661	0			c.A176T						.						7.0	10.0	9.0					X																	66765164		2055	4063	6118	SO:0001583	missense	367	exon1	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	TGCAGCAGCAGCA	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.176A>T	X.37:g.66765164A>T	ENSP00000363822:p.Gln59Leu	52	0		72	8	NM_000044	0	0	0	0	0	A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	a	12.32	1.901651	0.33535	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.69175	-0.38;-0.38;-0.38	.	.	.	.	1.117170	0.06949	N	0.814177	T	0.47060	0.1425	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.34313	0.448;0.448	B;B	0.36534	0.227;0.227	T	0.31724	-0.9933	8	0.13108	T	0.6	.	.	.	.	.	59;59	E7EVX6;D3YPQ2	.;.	L	59	ENSP00000363822:Q59L;ENSP00000421155:Q59L;ENSP00000379359:Q59L	ENSP00000363822:Q59L	Q	+	2	0	AR	66681889	0.995000	0.38212	0.864000	0.33941	0.503000	0.33858	0.245000	0.18142	0.000000	0.14550	0.000000	0.15137	CAG	.		0.677	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044	
YIPF6	286451	broad.mit.edu;bcgsc.ca	37	X	67718936	67718936	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chrX:67718936G>A	ENST00000462683.1	+	1	772	c.28G>A	c.(28-30)Gac>Aac	p.D10N	YIPF6_ENST00000374622.2_Missense_Mutation_p.D10N|YIPF6_ENST00000470730.1_3'UTR	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	10					intestinal epithelial cell development (GO:0060576)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						GTCTCCAGGAGACCCGGGGAC	0.662																																					p.D10N		.											.	YIPF6-130	0			c.G28A						.						32.0	31.0	32.0					X																	67718936		2186	4284	6470	SO:0001583	missense	286451	exon1			CCAGGAGACCCGG	BC012469	CCDS14389.1, CCDS56604.1	Xq13.1	2008-02-05			ENSG00000181704	ENSG00000181704		"""Yip1 domain family"""	28304	protein-coding gene	gene with protein product						12477932	Standard	NM_173834		Approved	MGC21416, FinGER6	uc004dwz.3	Q96EC8	OTTHUMG00000021745	ENST00000462683.1:c.28G>A	X.37:g.67718936G>A	ENSP00000417573:p.Asp10Asn	344	1		341	10	NM_001195214	0	0	35	35	0	B4E1U7|G5E997|Q5JP08	Missense_Mutation	SNP	ENST00000462683.1	37	CCDS14389.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813477	0.50527	.	.	ENSG00000181704	ENST00000462683;ENST00000451537;ENST00000374622	T;T;T	0.58506	0.95;0.34;0.33	4.63	3.74	0.42951	.	0.748576	0.13689	N	0.369679	T	0.35278	0.0926	N	0.08118	0	0.09310	N	1	B;B	0.30281	0.275;0.18	B;B	0.25405	0.06;0.027	T	0.28004	-1.0057	10	0.87932	D	0	-13.5601	9.4308	0.38608	0.0:0.2101:0.7899:0.0	.	10;10	G5E997;Q96EC8	.;YIPF6_HUMAN	N	10	ENSP00000417573:D10N;ENSP00000401799:D10N;ENSP00000363751:D10N	ENSP00000363751:D10N	D	+	1	0	YIPF6	67635661	0.991000	0.36638	0.060000	0.19600	0.962000	0.63368	1.359000	0.34113	1.250000	0.43966	0.600000	0.82982	GAC	.		0.662	YIPF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057016.1	NM_173834	
LINC00238	440184	hgsc.bcm.edu	37	14	66953308	66953309	+	lincRNA	INS	-	-	TC	rs147152268|rs10569333	byFrequency	TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr14:66953308_66953309insTC	ENST00000556874.1	-	0	643				LINC00238_ENST00000389594.3_RNA																							AGAAAAGAGGGtctctctctct	0.421																																					.		.											.	.	0			.						.																																					440184	.			AAGAGGGTCTCTC																													14.37:g.66953317_66953318dupTC		73	0		92	20	.	0	0	0	0	0		RNA	INS	ENST00000556874.1	37																																																																																				-|0.500;TC|0.500		0.421	RP11-72M17.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000412209.1		
TMEM247	388946	hgsc.bcm.edu	37	2	46707846	46707847	+	In_Frame_Ins	INS	-	-	GAGCGGCAGCACGAGGTGGTGATGGAGCAGCTGCAGCGG			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr2:46707846_46707847insGAGCGGCAGCACGAGGTGGTGATGGAGCAGCTGCAGCGG	ENST00000434431.1	+	2	420_421	c.420_421insGAGCGGCAGCACGAGGTGGTGATGGAGCAGCTGCAGCGG	c.(421-423)gag>GAGCGGCAGCACGAGGTGGTGATGGAGCAGCTGCAGCGGgag	p.141_141E>ERQHEVVMEQLQRE		NM_001145051.2	NP_001138523.1	A6NEH6	TM247_HUMAN	transmembrane protein 247	141						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											AGCTGCAGCGGGAGCGGCAGCA	0.663																																					p.R140delinsRERQHEVVMEQLQR		.											.	.	0			c.420_421insGAGCGGCAGCACGAGGTGGTGATGGAGCAGCTGCAGCGG						.																																			SO:0001652	inframe_insertion	388946	exon2			GCAGCGGGAGCGG		CCDS56117.1	2p21	2012-04-11			ENSG00000187600	ENSG00000187600			42967	protein-coding gene	gene with protein product							Standard	NM_001145051		Approved		uc010yod.3	A6NEH6	OTTHUMG00000153137	Exception_encountered	2.37:g.46707846_46707847insGAGCGGCAGCACGAGGTGGTGATGGAGCAGCTGCAGCGG	ENSP00000388684:p.ArgGlnHisGluValValMetGluGlnLeuGlnArgGlu141dup	197	0		223	0	NM_001145051	0	0	0	0	0		In_Frame_Ins	INS	ENST00000434431.1	37	CCDS56117.1																																																																																			.		0.663	TMEM247-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329726.1	NM_001145051	
RGS7BP	401190	broad.mit.edu	37	5	63802481	63802482	+	Frame_Shift_Ins	INS	-	-	C			TCGA-OR-A5JY-01A-31D-A29I-10	TCGA-OR-A5JY-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b3a9b723-f07e-4ebb-a275-da480edcbdfc	99a787b5-1f42-4df3-9c85-2468c507cf7e	g.chr5:63802481_63802482insC	ENST00000334025.2	+	1	356_357	c.30_31insC	c.(31-33)cgcfs	p.R11fs	RGS7BP_ENST00000508162.1_3'UTR	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	11					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		GGCGCAAAAAGCGCCCCAGCCG	0.683																																					p.K10fs		.											.	RGS7BP-68	0			c.30_31insC						.																																			SO:0001589	frameshift_variant	401190	exon1			CAAAAAGCGCCCC	BX640900	CCDS34170.1	5q12.3	2008-02-05	2007-08-14		ENSG00000186479	ENSG00000186479			23271	protein-coding gene	gene with protein product		610890	"""regulator of G-protein signalling 7 binding protein"""			15632198	Standard	NM_001271890		Approved	R7BP	uc003jtj.4	Q6MZT1	OTTHUMG00000162293	ENST00000334025.2:c.31dupC	5.37:g.63802482_63802482dupC	ENSP00000334851:p.Arg11fs	77	0		185	7	NM_001029875	0	0	0	0	0	B7Z3X1	Frame_Shift_Ins	INS	ENST00000334025.2	37	CCDS34170.1																																																																																			.		0.683	RGS7BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368464.1	NM_001029875	
