#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	G	G	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chrUnknown:0G>A								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								9413	SO:0001628	intergenic_variant	4514																															Unknown.37:g.0G>A			9413		Missense_Mutation	SNP	superfamily_CytC_oxdse_III,HMMPfam_COX3	p.G69D		37	c.206		MT																																																																																			-	superfamily_CytC_oxdse_III,HMMPfam_COX3	0	0					MT-CO3			G			9413	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000362079	ensembl	human	known	54_36p	missense	SNP	NULL	A
RHBDL1	9028	genome.wustl.edu	37	16	731186	731186	+	IGR	SNP	A	A	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr16:731186A>T	ENST00000219551.2	+	0	1560				STUB1_ENST00000564370.1_5'UTR|STUB1_ENST00000219548.4_Missense_Mutation_p.N65I|LA16c-313D11.9_ENST00000567091.1_RNA|LA16c-313D11.9_ENST00000571933.1_RNA|STUB1_ENST00000565677.1_5'UTR			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)						signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				TATTACACCAACCGGGCCTTG	0.682																																																0			16											20.0	20.0	20.0					16																	731186		2179	4287	6466	671187	SO:0001628	intergenic_variant	10273			Y17108	CCDS61779.1	16p13.3	2008-02-05	2001-11-28	2003-04-11	ENSG00000103269	ENSG00000103269			10007	protein-coding gene	gene with protein product		603264	"""rhomboid (veinlet, Drosophila)-like"""	RHBDL		9662444	Standard	NM_001278720		Approved	RRP	uc002cis.1	O75783	OTTHUMG00000121141		16.37:g.731186A>T			671187	A2IDC0|A2IDC1|Q0VAX4|Q9NQ85	Missense_Mutation	SNP	HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like,superfamily_RING/U-box,HMMPfam_U-box,HMMSmart_SM00504	p.N65I	ENST00000219551.2	37	c.194	CCDS10418.1	16	.	.	.	.	.	.	.	.	.	.	A	26.8	4.771747	0.90108	.	.	ENSG00000103266	ENST00000219548	T	0.69806	-0.43	4.3	4.3	0.51218	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.89128	0.6627	H	0.99555	4.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92922	0.6356	10	0.87932	D	0	-40.2213	12.7873	0.57514	1.0:0.0:0.0:0.0	.	65	Q9UNE7	CHIP_HUMAN	I	65	ENSP00000219548:N65I	ENSP00000219548:N65I	N	+	2	0	STUB1	671187	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	8.745000	0.91600	1.801000	0.52704	0.459000	0.35465	AAC	-	superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028		0.682	RHBDL1-001	KNOWN	basic|CCDS	protein_coding	STUB1	protein_coding	OTTHUMT00000241619.1	A	NM_003961		671187	+1	no_errors	NM_005861	genbank	human	validated	54_36p	missense	SNP	1.000	T
GPER1	2852	genome.wustl.edu	37	7	1132411	1132411	+	Silent	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr7:1132411C>T	ENST00000297469.3	+	2	1738	c.1047C>T	c.(1045-1047)aaC>aaT	p.N349N	GPER1_ENST00000397092.1_Silent_p.N349N|GPER1_ENST00000397088.3_Silent_p.N349N|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000357429.6_Intron|GPER1_ENST00000401670.1_Silent_p.N349N|C7orf50_ENST00000397098.3_Intron	NM_001505.2	NP_001496.1	Q99527	GPER1_HUMAN	G protein-coupled estrogen receptor 1	349					apoptotic chromosome condensation (GO:0030263)|cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucose stimulus (GO:0071333)|cellular response to mineralocorticoid stimulus (GO:0071389)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytosolic calcium ion homeostasis (GO:0051480)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA metabolic process (GO:0051053)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte activation (GO:0002695)|negative regulation of lipid biosynthetic process (GO:0051055)|neuronal action potential (GO:0019228)|nuclear fragmentation involved in apoptotic nuclear change (GO:0030264)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of gene expression (GO:0010628)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of insulin secretion (GO:0032024)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vasodilation (GO:0045909)|steroid hormone mediated signaling pathway (GO:0043401)	axon (GO:0030424)|axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine head (GO:0044327)|dendritic spine membrane (GO:0032591)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|keratin filament (GO:0045095)|mitochondrial membrane (GO:0031966)|neuronal postsynaptic density (GO:0097481)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	chromatin binding (GO:0003682)|estrogen receptor activity (GO:0030284)|G-protein coupled receptor activity (GO:0004930)|mineralocorticoid receptor activity (GO:0017082)|steroid binding (GO:0005496)										CGGCCCTGAACCGCTTCTGTC	0.567																																																0			7											75.0	61.0	66.0					7																	1132411		2203	4300	6503	1098937	SO:0001819	synonymous_variant	2852			U63917	CCDS5322.1	7p22	2013-08-14	2007-07-03	2013-08-14	ENSG00000164850	ENSG00000164850			4485	protein-coding gene	gene with protein product		601805	"""G protein-coupled receptor 30"""	CMKRL2, GPR30, GPER		9479505, 17655271	Standard	NM_001098201		Approved	FEG-1, GPCR-Br, LERGU, LERGU2, DRY12, LyGPR, CEPR	uc003skb.2	Q99527	OTTHUMG00000023680	ENST00000297469.3:c.1047C>T	7.37:g.1132411C>T			1098937	A8K6C5|B5BUJ1|O00143|O43494|Q13631|Q6FHL1|Q96F42|Q99981	Silent	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.N349	ENST00000297469.3	37	c.1047	CCDS5322.1	7																																																																																			-	NULL		0.567	GPER1-030	KNOWN	basic|appris_principal|CCDS	protein_coding	GPER	protein_coding	OTTHUMT00000060001.1	C	NM_001039966		1098937	+1	no_errors	NM_001039966	genbank	human	reviewed	54_36p	silent	SNP	0.992	T
KLF16	83855	genome.wustl.edu	37	19	1854633	1854633	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr19:1854633C>T	ENST00000250916.4	-	2	654	c.584G>A	c.(583-585)cGc>cAc	p.R195H	CTB-31O20.6_ENST00000592884.1_RNA|KLF16_ENST00000592313.1_5'UTR	NM_031918.3	NP_114124.1	Q9BXK1	KLF16_HUMAN	Kruppel-like factor 16	195					dopamine receptor signaling pathway (GO:0007212)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)			lung(1)	1		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGGTGAAGCGCTTGGAGCA	0.721																																																0			19											30.0	36.0	34.0					19																	1854633		2201	4298	6499	1805633	SO:0001583	missense	83855			AF327440	CCDS12075.1	19p13.3	2013-10-15			ENSG00000129911	ENSG00000129911		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	16857	protein-coding gene	gene with protein product		606139				11438660	Standard	NM_031918		Approved	NSLP2, BTEB4, DRRF	uc002luc.3	Q9BXK1	OTTHUMG00000179994	ENST00000250916.4:c.584G>A	19.37:g.1854633C>T	ENSP00000250916:p.Arg195His		1805633		Missense_Mutation	SNP	HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667	p.R195H	ENST00000250916.4	37	c.584	CCDS12075.1	19	.	.	.	.	.	.	.	.	.	.	C	26.4	4.738844	0.89573	.	.	ENSG00000129911	ENST00000250916;ENST00000541015	T;T	0.19938	2.11;2.11	3.34	3.34	0.38264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39358	0.1075	L	0.60957	1.885	0.38985	D	0.959032	D	0.76494	0.999	D	0.69142	0.962	T	0.41627	-0.9498	9	0.87932	D	0	.	12.2072	0.54358	0.0:1.0:0.0:0.0	.	195	Q9BXK1	KLF16_HUMAN	H	195	ENSP00000250916:R195H;ENSP00000439973:R195H	ENSP00000250916:R195H	R	-	2	0	KLF16	1805633	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	7.479000	0.81095	1.703000	0.51240	0.478000	0.44815	CGC	-	superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1		0.721	KLF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF16	protein_coding	OTTHUMT00000449214.1	C			1805633	-1	no_errors	NM_031918	genbank	human	validated	54_36p	missense	SNP	1.000	T
NOXO1	124056	genome.wustl.edu	37	16	2030431	2030431	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr16:2030431G>C	ENST00000397280.4	-	4	356	c.353C>G	c.(352-354)cCg>cGg	p.P118R	TBL3_ENST00000568546.1_3'UTR|NOXO1_ENST00000566005.1_Missense_Mutation_p.P117R|AC005606.1_ENST00000598236.1_5'Flank|NOXO1_ENST00000354249.4_Missense_Mutation_p.P112R|NOXO1_ENST00000356120.4_Missense_Mutation_p.P113R			Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1	118	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				extracellular matrix disassembly (GO:0022617)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|superoxide metabolic process (GO:0006801)	NADPH oxidase complex (GO:0043020)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|phospholipid binding (GO:0005543)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			lung(2)	2					Ecabet(DB05265)	AGTGATCGTCGGGCTCCGTGC	0.706																																					Pancreas(104;2811 2841 4129)|Esophageal Squamous(25;910 1225 43728)											0			16											23.0	32.0	29.0					16																	2030431		2193	4291	6484	1970432	SO:0001583	missense	124056			AF532985	CCDS10454.1, CCDS10455.1, CCDS42101.1, CCDS58406.1	16p13.3	2008-02-05			ENSG00000196408	ENSG00000196408			19404	protein-coding gene	gene with protein product		611256					Standard	NM_144603		Approved	P41NOXA, P41NOXB, P41NOXC, SH3PXD5, SNX28	uc002cnx.4	Q8NFA2	OTTHUMG00000128707	ENST00000397280.4:c.353C>G	16.37:g.2030431G>C	ENSP00000380450:p.Pro118Arg		1970432	Q86YM1|Q8NFA3|Q96B73	Missense_Mutation	SNP	superfamily_PX domain,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326	p.P118R	ENST00000397280.4	37	c.353	CCDS42101.1	16	.	.	.	.	.	.	.	.	.	.	G	10.53	1.377366	0.24944	.	.	ENSG00000196408	ENST00000354249;ENST00000356120;ENST00000397280	T;T;T	0.70164	-0.46;1.11;1.11	4.99	1.5	0.22942	Phox homologous domain (4);	1.148870	0.06114	N	0.667656	T	0.68375	0.2994	M	0.66297	2.02	0.09310	N	1	P;P;P;P	0.38729	0.459;0.459;0.591;0.644	B;B;B;P	0.45138	0.108;0.067;0.148;0.471	T	0.54417	-0.8297	10	0.33940	T	0.23	-6.2232	5.8778	0.18838	0.1886:0.0:0.6171:0.1943	.	117;112;113;118	Q8NFA2-2;Q8NFA2-4;Q8NFA2-3;Q8NFA2	.;.;.;NOXO1_HUMAN	R	112;113;118	ENSP00000346195:P112R;ENSP00000348435:P113R;ENSP00000380450:P118R	ENSP00000346195:P112R	P	-	2	0	NOXO1	1970432	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.422000	0.21296	0.505000	0.28104	0.462000	0.41574	CCG	-	superfamily_PX domain		0.706	NOXO1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOXO1	protein_coding	OTTHUMT00000250612.1	G			1970432	-1	no_errors	NM_172168	genbank	human	provisional	54_36p	missense	SNP	0.000	C
DHRSX	207063	genome.wustl.edu	37	X	2161118	2161118	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chrX:2161118G>C	ENST00000334651.5	-	6	802	c.750C>G	c.(748-750)caC>caG	p.H250Q		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	250							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CCCAGAACACGTGCTTGTAGA	0.607																																																0			X											111.0	104.0	107.0					X																	2161118		2203	4296	6499	2171118	SO:0001583	missense	207063			AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"""Pseudoautosomal regions / PAR1"""	18399	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 6"", ""short chain dehydrogenase/reductase family 46C, member 1"", ""dehydrogenase/reductase (SDR family) Y-linked"""		"""dehydrogenase/reductase (SDR family) X chromosome"""			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.750C>G	X.37:g.2161118G>C	ENSP00000334113:p.His250Gln		2171118	Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Missense_Mutation	SNP	superfamily_NAD(P)-bd,HMMPfam_adh_short,PatternScan_ADH_SHORT	p.H250Q	ENST00000334651.5	37	c.750	CCDS35195.1	X	.	.	.	.	.	.	.	.	.	.	a	8.973	0.973317	0.18736	.	.	ENSG00000169084	ENST00000334651;ENST00000412516	T;T	0.21361	2.01;2.01	1.45	0.348	0.16026	NAD(P)-binding domain (1);	0.747943	0.11788	U	0.529443	T	0.39963	0.1098	M	0.81802	2.56	0.09310	N	0.999999	D	0.71674	0.998	D	0.64506	0.926	T	0.14008	-1.0488	10	0.87932	D	0	.	5.1507	0.15007	0.6069:0.0:0.3931:0.0	.	250	Q8N5I4	DHRSX_HUMAN	Q	250;227	ENSP00000334113:H250Q;ENSP00000391778:H227Q	ENSP00000334113:H250Q	H	-	3	2	DHRSX	2171118	1.000000	0.71417	0.393000	0.26258	0.225000	0.24961	0.730000	0.26043	0.430000	0.26230	0.054000	0.15206	CAC	-	superfamily_NAD(P)-bd		0.607	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRSX	protein_coding	OTTHUMT00000055617.3	G	NM_145177		2171118	-1	no_errors	NM_145177	genbank	human	validated	54_36p	missense	SNP	1.000	C
C20orf141	128653	genome.wustl.edu	37	20	2796199	2796199	+	Silent	SNP	T	T	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr20:2796199T>A	ENST00000380589.4	+	2	450	c.276T>A	c.(274-276)acT>acA	p.T92T	TMEM239_ENST00000380593.4_Intron|TMEM239_ENST00000361033.1_5'Flank|TMEM239_ENST00000380585.1_5'Flank|C20orf141_ENST00000603872.1_Silent_p.T92T|TMEM239_ENST00000554164.1_Intron	NM_080739.2	NP_542777.1	Q9NUB4	CT141_HUMAN	chromosome 20 open reading frame 141	92	Leu-rich.					integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	10						CAGGTCACACTCTGCCACAGC	0.632																																																0			20											38.0	35.0	36.0					20																	2796199		2203	4300	6503	2744199	SO:0001819	synonymous_variant	128653				CCDS13034.1	20p13	2012-10-30			ENSG00000258713	ENSG00000258713			16134	protein-coding gene	gene with protein product							Standard	NM_001256538		Approved	dJ860F19.4	uc002wgw.3	Q9NUB4	OTTHUMG00000031707	ENST00000380589.4:c.276T>A	20.37:g.2796199T>A			2744199		Silent	SNP	NULL	p.T92	ENST00000380589.4	37	c.276	CCDS13034.1	20																																																																																			-	NULL		0.632	C20orf141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf141	protein_coding	OTTHUMT00000077644.2	T	NM_080739		2744199	+1	no_errors	NM_080739	genbank	human	validated	54_36p	silent	SNP	0.001	A
TRPV3	162514	genome.wustl.edu	37	17	3446831	3446831	+	Missense_Mutation	SNP	A	A	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr17:3446831A>T	ENST00000576742.1	-	5	724	c.403T>A	c.(403-405)Ttg>Atg	p.L135M	TRPV3_ENST00000301365.4_Missense_Mutation_p.L135M|TRPV3_ENST00000572519.1_Missense_Mutation_p.L135M	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	135					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	AACTCTACCAACTCCTCCACG	0.607																																																0			17											119.0	114.0	116.0					17																	3446831		2203	4300	6503	3393581	SO:0001583	missense	162514			AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.403T>A	17.37:g.3446831A>T	ENSP00000461518:p.Leu135Met		3393581	Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_Ion_trans	p.L135M	ENST00000576742.1	37	c.403	CCDS11029.1	17	.	.	.	.	.	.	.	.	.	.	A	16.71	3.198162	0.58126	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	T;T	0.76709	-1.04;-0.27	5.2	0.867	0.19085	Ankyrin repeat-containing domain (3);	0.226096	0.29692	N	0.011448	D	0.83640	0.5298	M	0.74647	2.275	0.32077	N	0.593601	P;D;D;D;D;D;D	0.89917	0.95;0.986;1.0;0.986;0.999;1.0;1.0	P;P;D;P;D;D;D	0.91635	0.776;0.869;0.999;0.869;0.997;0.999;0.998	T	0.81382	-0.0958	10	0.59425	D	0.04	-6.1466	5.7264	0.18015	0.3049:0.1305:0.5646:0.0	.	119;119;135;119;135;135;135	E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;TRPV3_HUMAN;.	M	135;135;119	ENSP00000371338:L135M;ENSP00000301365:L135M	ENSP00000301365:L135M	L	-	1	2	TRPV3	3393581	0.956000	0.32656	0.995000	0.50966	0.777000	0.43975	0.108000	0.15396	0.026000	0.15269	-0.330000	0.08379	TTG	-	superfamily_Ankyrin repeat		0.607	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPV3	protein_coding	OTTHUMT00000207379.2	A	NM_145068		3393581	-1	no_errors	NM_145068	genbank	human	reviewed	54_36p	missense	SNP	0.978	T
AKAP3	10566	genome.wustl.edu	37	12	4736433	4736433	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr12:4736433C>A	ENST00000545990.2	-	5	2159	c.1635G>T	c.(1633-1635)agG>agT	p.R545S	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Missense_Mutation_p.R545S	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	545					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TCCGTGCATCCCTTCTTCCTC	0.517																																																0			12											44.0	45.0	45.0					12																	4736433		2203	4300	6503	4606694	SO:0001583	missense	10566			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.1635G>T	12.37:g.4736433C>A	ENSP00000440994:p.Arg545Ser		4606694	O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	HMMSmart_SM00807,HMMPfam_RII_binding_1,HMMPfam_AKAP_110	p.R545S	ENST00000545990.2	37	c.1635	CCDS8531.1	12	.	.	.	.	.	.	.	.	.	.	C	8.354	0.831545	0.16820	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.06768	3.26;3.26	5.95	5.95	0.96441	A-kinase anchor 110kDa, C-terminal (1);	0.226724	0.40640	N	0.001047	T	0.07954	0.0199	N	0.22421	0.69	0.32146	N	0.584918	B	0.23316	0.083	B	0.24006	0.05	T	0.07290	-1.0780	10	0.40728	T	0.16	-23.5313	15.8855	0.79244	0.0:1.0:0.0:0.0	.	545	O75969	AKAP3_HUMAN	S	545	ENSP00000228850:R545S;ENSP00000440994:R545S	ENSP00000228850:R545S	R	-	3	2	AKAP3	4606694	0.985000	0.35326	1.000000	0.80357	0.774000	0.43823	1.821000	0.39041	2.825000	0.97269	0.655000	0.94253	AGG	-	HMMSmart_SM00807,HMMPfam_AKAP_110		0.517	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP3	protein_coding	OTTHUMT00000398911.2	C	NM_006422		4606694	-1	no_errors	NM_006422	genbank	human	reviewed	54_36p	missense	SNP	0.984	A
ASB13	79754	genome.wustl.edu	37	10	5682766	5682766	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr10:5682766C>T	ENST00000357700.6	-	6	763	c.737G>A	c.(736-738)tGc>tAc	p.C246Y	ASB13_ENST00000479033.1_5'UTR	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	246	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		GTTCACCCTGCAGAGCTGTGA	0.507																																																0			10											98.0	93.0	94.0					10																	5682766		2203	4300	6503	5722772	SO:0001583	missense	79754			AK091935	CCDS7070.1	10p15.1	2013-01-10	2011-01-25		ENSG00000196372	ENSG00000196372		"""Ankyrin repeat domain containing"""	19765	protein-coding gene	gene with protein product		615055	"""ankyrin repeat and SOCS box-containing 13"""			12076535	Standard	NM_024701		Approved	FLJ13134, MGC19879	uc001iig.2	Q8WXK3	OTTHUMG00000017603	ENST00000357700.6:c.737G>A	10.37:g.5682766C>T	ENSP00000350331:p.Cys246Tyr		5722772	A8K7Q6|D3DRR2|Q96EP7|Q9H8Z1	Missense_Mutation	SNP	HMMSmart_SM00248,HMMPfam_Ank,superfamily_Ankyrin repeat,HMMPfam_SOCS_box	p.C246Y	ENST00000357700.6	37	c.737	CCDS7070.1	10	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384618	0.82792	.	.	ENSG00000196372	ENST00000357700	T	0.78924	-1.22	5.28	5.28	0.74379	SOCS protein, C-terminal (3);	0.044322	0.85682	D	0.000000	D	0.91246	0.7241	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.93404	0.6763	10	0.87932	D	0	-22.6703	18.5437	0.91039	0.0:1.0:0.0:0.0	.	246	Q8WXK3	ASB13_HUMAN	Y	246	ENSP00000350331:C246Y	ENSP00000350331:C246Y	C	-	2	0	ASB13	5722772	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	6.566000	0.73978	2.479000	0.83701	0.655000	0.94253	TGC	-	HMMPfam_SOCS_box		0.507	ASB13-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB13	protein_coding	OTTHUMT00000046564.1	C			5722772	-1	no_errors	NM_024701	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
MCM8	84515	genome.wustl.edu	37	20	5943981	5943981	+	Missense_Mutation	SNP	T	T	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr20:5943981T>G	ENST00000378896.3	+	8	1228	c.851T>G	c.(850-852)gTt>gGt	p.V284G	Y_RNA_ENST00000384650.1_RNA|MCM8_ENST00000378886.2_Missense_Mutation_p.V284G|MCM8_ENST00000265187.4_Missense_Mutation_p.V284G|MCM8_ENST00000378883.1_Missense_Mutation_p.V284G	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	284					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						CCTCTCACAGTTACGATGGAC	0.413																																																0			20											128.0	112.0	118.0					20																	5943981		2203	4300	6503	5891981	SO:0001583	missense	84515			AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.851T>G	20.37:g.5943981T>G	ENSP00000368174:p.Val284Gly		5891981	B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	superfamily_Nucleic acid-binding proteins,HMMSmart_SM00350,HMMPfam_MCM,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382	p.V284G	ENST00000378896.3	37	c.851	CCDS13094.1	20	.	.	.	.	.	.	.	.	.	.	T	1.004	-0.690146	0.03303	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	T;T;T;T	0.04758	3.56;3.56;3.56;3.56	4.74	4.74	0.60224	Nucleic acid-binding, OB-fold-like (1);	0.315432	0.31301	N	0.007888	T	0.07007	0.0178	M	0.67569	2.06	0.22017	N	0.999417	B;B;B;B	0.25955	0.005;0.138;0.001;0.005	B;B;B;B	0.25987	0.008;0.065;0.008;0.005	T	0.23619	-1.0183	10	0.25106	T	0.35	-18.9289	9.5061	0.39048	0.0:0.0915:0.0:0.9085	.	284;284;284;284	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	G	284	ENSP00000368174:V284G;ENSP00000368161:V284G;ENSP00000368164:V284G;ENSP00000265187:V284G	ENSP00000265187:V284G	V	+	2	0	MCM8	5891981	0.905000	0.30787	0.580000	0.28601	0.031000	0.12232	3.136000	0.50554	1.878000	0.54408	0.528000	0.53228	GTT	-	superfamily_Nucleic acid-binding proteins,HMMSmart_SM00350		0.413	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCM8	protein_coding	OTTHUMT00000077900.1	T	NM_032485		5891981	+1	no_errors	NM_032485	genbank	human	reviewed	54_36p	missense	SNP	0.151	G
WFS1	7466	genome.wustl.edu	37	4	6296894	6296894	+	Missense_Mutation	SNP	A	A	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr4:6296894A>G	ENST00000226760.1	+	7	1009	c.839A>G	c.(838-840)gAg>gGg	p.E280G	WFS1_ENST00000503569.1_Missense_Mutation_p.E280G	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	280					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		AAGAGCCCTGAGGACCTGCCA	0.622																																																0			4											56.0	51.0	53.0					4																	6296894		2203	4300	6503	6347795	SO:0001583	missense	7466			AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.839A>G	4.37:g.6296894A>G	ENSP00000226760:p.Glu280Gly		6347795	B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	NULL	p.E280G	ENST00000226760.1	37	c.839	CCDS3386.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.59|16.59	3.164602|3.164602	0.57476|0.57476	.|.	.|.	ENSG00000109501|ENSG00000109501	ENST00000503569;ENST00000226760|ENST00000506362	D;D|.	0.94092|.	-3.35;-3.35|.	4.35|4.35	4.35|4.35	0.52113|0.52113	.|.	0.182907|.	0.47852|.	D|.	0.000217|.	T|T	0.59715|0.59715	0.2214|0.2214	L|L	0.47716|0.47716	1.5|1.5	0.41965|0.41965	D|D	0.990728|0.990728	P|.	0.48640|.	0.913|.	P|.	0.45610|.	0.487|.	T|T	0.58418|0.58418	-0.7640|-0.7640	10|5	0.51188|.	T|.	0.08|.	-34.8873|-34.8873	12.729|12.729	0.57187|0.57187	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	280|.	O76024|.	WFS1_HUMAN|.	G|G	280|158	ENSP00000423337:E280G;ENSP00000226760:E280G|.	ENSP00000226760:E280G|.	E|R	+|+	2|1	0|2	WFS1|WFS1	6347795|6347795	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.895000|0.895000	0.52256|0.52256	6.019000|6.019000	0.70818|0.70818	1.597000|1.597000	0.50072|0.50072	0.379000|0.379000	0.24179|0.24179	GAG|AGG	-	NULL		0.622	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFS1	protein_coding	OTTHUMT00000206863.1	A			6347795	+1	no_errors	NM_006005	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
TP53	7157	genome.wustl.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr17:7577568C>T	ENST00000269305.4	-	7	902	c.713G>A	c.(712-714)tGt>tAt	p.C238Y	TP53_ENST00000359597.4_Missense_Mutation_p.C238Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.C238Y|TP53_ENST00000420246.2_Missense_Mutation_p.C238Y|TP53_ENST00000413465.2_Missense_Mutation_p.C238Y|TP53_ENST00000445888.2_Missense_Mutation_p.C238Y	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	238	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGAACTGTTACACATGTAGTT	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	158	Substitution - Missense(131)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(4)	breast(22)|ovary(17)|large_intestine(14)|haematopoietic_and_lymphoid_tissue(13)|endometrium(13)|lung(12)|upper_aerodigestive_tract(9)|pancreas(8)|soft_tissue(7)|urinary_tract(7)|oesophagus(7)|biliary_tract(6)|central_nervous_system(6)|liver(5)|bone(5)|stomach(4)|skin(2)|meninges(1)	17	GRCh37	CM034930	TP53	M							132.0	103.0	113.0					17																	7577568		2203	4300	6503	7518293	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.713G>A	17.37:g.7577568C>T	ENSP00000269305:p.Cys238Tyr		7518293	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.C238Y	ENST00000269305.4	37	c.713	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327056	0.81690	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99964	-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96	4.09	4.09	0.47781	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99972	0.9991	M	0.92970	3.365	0.80722	D	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	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95847	0.8871	10	0.87932	D	0	-18.536	14.6088	0.68501	0.0:1.0:0.0:0.0	.	238;238;145;238;238;238	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Y	238;238;238;238;238;238;227;145;106;145	ENSP00000410739:C238Y;ENSP00000352610:C238Y;ENSP00000269305:C238Y;ENSP00000398846:C238Y;ENSP00000391127:C238Y;ENSP00000391478:C238Y;ENSP00000425104:C106Y;ENSP00000423862:C145Y	ENSP00000269305:C238Y	C	-	2	0	TP53	7518293	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	2.564000	0.86499	0.462000	0.41574	TGT	-	HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7518293	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
ITIH5	80760	genome.wustl.edu	37	10	7682777	7682777	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr10:7682777C>G	ENST00000256861.6	-	4	419	c.341G>C	c.(340-342)aGa>aCa	p.R114T	ITIH5_ENST00000434980.1_5'Flank|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.R114T|ITIH5_ENST00000397146.2_Missense_Mutation_p.R114T	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	114	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CTTCTTTTCTCTCTCTGTAAT	0.373																																																0			10											251.0	244.0	246.0					10																	7682777		2203	4300	6503	7722783	SO:0001583	missense	80760					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.341G>C	10.37:g.7682777C>G	ENSP00000256861:p.Arg114Thr		7722783	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	HMMSmart_SM00609,HMMPfam_VIT,HMMSmart_SM00327,superfamily_vWA-like,HMMPfam_VWA,HMMPfam_ITI_HC_C	p.R114T	ENST00000256861.6	37	c.341		10	.	.	.	.	.	.	.	.	.	.	C	16.11	3.031161	0.54790	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000397145	T;T;T	0.25414	1.8;1.8;1.8	5.71	-3.19	0.05171	Vault protein inter-alpha-trypsin (2);	0.699468	0.14961	N	0.288344	T	0.32496	0.0831	.	.	.	0.23473	N	0.997603	P;P	0.50369	0.934;0.858	P;P	0.49637	0.617;0.614	T	0.38200	-0.9672	9	0.87932	D	0	-6.8563	14.803	0.69929	0.0:0.1219:0.0:0.8781	.	114;114	G5E9D8;Q86UX2	.;ITIH5_HUMAN	T	114	ENSP00000256861:R114T;ENSP00000380333:R114T;ENSP00000380332:R114T	ENSP00000256861:R114T	R	-	2	0	ITIH5	7722783	0.999000	0.42202	0.139000	0.22197	0.610000	0.37248	0.374000	0.20501	-0.870000	0.04047	0.563000	0.77884	AGA	-	HMMSmart_SM00609,HMMPfam_VIT		0.373	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	ITIH5	protein_coding	OTTHUMT00000046688.1	C	NM_030569		7722783	-1	no_errors	NM_030569	genbank	human	validated	54_36p	missense	SNP	0.499	G
PTPRM	5797	genome.wustl.edu	37	18	7888115	7888115	+	Missense_Mutation	SNP	C	C	G	rs113099035	byFrequency	TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr18:7888115C>G	ENST00000332175.8	+	3	1245	c.208C>G	c.(208-210)Ctg>Gtg	p.L70V	PTPRM_ENST00000580170.1_Missense_Mutation_p.L70V|PTPRM_ENST00000400053.4_Missense_Mutation_p.L8V|PTPRM_ENST00000400060.4_Missense_Mutation_p.L70V	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	70	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TTCTTTCATGCTGGTGAATGC	0.453																																																0			18											191.0	200.0	197.0					18																	7888115		2203	4300	6503	7878115	SO:0001583	missense	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.208C>G	18.37:g.7888115C>G	ENSP00000331418:p.Leu70Val		7878115	A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	HMMSmart_SM00137,HMMPfam_MAM,PatternScan_MAM_1,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1	p.L70V	ENST00000332175.8	37	c.208	CCDS11840.1	18	.	.	.	.	.	.	.	.	.	.	C	12.20	1.867131	0.32977	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053	T;T;T	0.02085	4.46;4.46;4.46	5.73	-0.282	0.12878	Concanavalin A-like lectin/glucanase (1);MAM domain (5);	0.340181	0.29389	N	0.012286	T	0.01156	0.0038	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.56341	-0.7995	10	0.42905	T	0.14	.	3.7572	0.08589	0.4471:0.3172:0.0:0.2357	.	70;70	A7MBN1;P28827	.;PTPRM_HUMAN	V	70;70;8	ENSP00000331418:L70V;ENSP00000382933:L70V;ENSP00000382927:L8V	ENSP00000331418:L70V	L	+	1	2	PTPRM	7878115	0.975000	0.34042	0.998000	0.56505	0.993000	0.82548	0.125000	0.15749	-0.028000	0.13850	0.655000	0.94253	CTG	-	HMMSmart_SM00137,HMMPfam_MAM,PatternScan_MAM_1		0.453	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	protein_coding	OTTHUMT00000254456.1	C			7878115	+1	no_errors	NM_001105244	genbank	human	reviewed	54_36p	missense	SNP	0.977	G
MYH4	4622	genome.wustl.edu	37	17	10368836	10368836	+	Missense_Mutation	SNP	T	T	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr17:10368836T>A	ENST00000255381.2	-	5	538	c.428A>T	c.(427-429)tAc>tTc	p.Y143F	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	143	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTTGCCTCGGTAGGCTGTCAC	0.542																																																0			17											132.0	136.0	135.0					17																	10368836		2203	4300	6503	10309561	SO:0001583	missense	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.428A>T	17.37:g.10368836T>A	ENSP00000255381:p.Tyr143Phe		10309561		Missense_Mutation	SNP	HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_Myosin_tail_1	p.Y143F	ENST00000255381.2	37	c.428	CCDS11154.1	17	.	.	.	.	.	.	.	.	.	.	T	22.1	4.239052	0.79800	.	.	ENSG00000141048;ENSG00000125414	ENST00000255381;ENST00000532288	T	0.81247	-1.47	4.95	4.95	0.65309	Myosin head, motor domain (2);	0.000000	0.32533	U	0.005968	D	0.90988	0.7166	M	0.90870	3.155	0.80722	D	1	P	0.35600	0.511	P	0.54544	0.755	D	0.92380	0.5912	10	0.87932	D	0	.	15.0618	0.71961	0.0:0.0:0.0:1.0	.	143	Q9Y623	MYH4_HUMAN	F	143	ENSP00000255381:Y143F	ENSP00000431873:Y143F	Y	-	2	0	MYH2;MYH4	10309561	1.000000	0.71417	0.974000	0.42286	0.403000	0.30841	7.767000	0.85331	2.202000	0.70862	0.528000	0.53228	TAC	-	superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head		0.542	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	protein_coding	OTTHUMT00000252731.1	T	NM_017533		10309561	-1	no_errors	NM_017533	genbank	human	validated	54_36p	missense	SNP	1.000	A
GCM2	9247	genome.wustl.edu	37	6	10875140	10875140	+	Silent	SNP	A	A	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr6:10875140A>G	ENST00000379491.4	-	5	756	c.609T>C	c.(607-609)ggT>ggC	p.G203G	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	203			G -> S (in dbSNP:rs7744163).		cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|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 (GO:0043565)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TGCTGAAATGACCACTGCTGT	0.438																																																0			6											102.0	97.0	98.0					6																	10875140		2203	4300	6503	10983126	SO:0001819	synonymous_variant	9247			AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"""glial cells missing (Drosophila) homolog b"""	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.609T>C	6.37:g.10875140A>G			10983126	D3GDV6|Q5THN5	Silent	SNP	superfamily_GCM_motif,HMMPfam_GCM	p.G203	ENST00000379491.4	37	c.609	CCDS4517.1	6																																																																																			-	NULL		0.438	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCM2	protein_coding	OTTHUMT00000039844.1	A			10983126	-1	no_errors	NM_004752	genbank	human	reviewed	54_36p	silent	SNP	0.314	G
SLC6A1	6529	genome.wustl.edu	37	3	11059642	11059642	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr3:11059642C>A	ENST00000287766.4	+	4	773	c.352C>A	c.(352-354)Ctg>Atg	p.L118M	SLC6A1_ENST00000536032.1_Intron|SLC6A1-AS1_ENST00000414969.2_RNA	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	118					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	GGTATGGAAGCTGGCTCCTAT	0.602																																																0			3											116.0	128.0	124.0					3																	11059642		2203	4300	6503	11034642	SO:0001583	missense	6529				CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.352C>A	3.37:g.11059642C>A	ENSP00000287766:p.Leu118Met		11034642	Q8N4K8	Missense_Mutation	SNP	HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2	p.L118M	ENST00000287766.4	37	c.352	CCDS2603.1	3	.	.	.	.	.	.	.	.	.	.	C	16.52	3.147536	0.57151	.	.	ENSG00000157103	ENST00000287766	T	0.76316	-1.01	4.07	3.19	0.36642	.	0.086634	0.46758	D	0.000268	T	0.82042	0.4951	L	0.49455	1.56	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.81861	-0.0738	10	0.87932	D	0	.	8.4508	0.32869	0.0:0.8215:0.0:0.1785	.	118	P30531	SC6A1_HUMAN	M	118	ENSP00000287766:L118M	ENSP00000287766:L118M	L	+	1	2	SLC6A1	11034642	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.367000	0.34204	1.062000	0.40625	0.563000	0.77884	CTG	-	HMMPfam_SNF		0.602	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A1	protein_coding	OTTHUMT00000102767.2	C	NM_003042		11034642	+1	no_errors	NM_003042	genbank	human	validated	54_36p	missense	SNP	0.998	A
CLCN6	1185	genome.wustl.edu	37	1	11879592	11879592	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr1:11879592G>C	ENST00000346436.6	+	5	379	c.327G>C	c.(325-327)aaG>aaC	p.K109N	CLCN6_ENST00000312413.6_Missense_Mutation_p.K109N|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.K109N|CLCN6_ENST00000376487.3_Missense_Mutation_p.K87N|CLCN6_ENST00000376497.3_Missense_Mutation_p.K109N	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	109					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CCCAACTCAAGTTCGGAGTGG	0.453																																																0			1											262.0	224.0	237.0					1																	11879592		2203	4300	6503	11802179	SO:0001583	missense	1185			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.327G>C	1.37:g.11879592G>C	ENSP00000234488:p.Lys109Asn		11802179	A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	superfamily_Clc chloride channel,HMMPfam_Voltage_CLC,superfamily_CBS-domain,HMMPfam_CBS,HMMSmart_SM00116	p.K109N	ENST00000346436.6	37	c.327	CCDS138.1	1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685689	0.47991	.	.	ENSG00000011021	ENST00000312413;ENST00000346436;ENST00000376497;ENST00000376487;ENST00000376496;ENST00000376490;ENST00000376491;ENST00000376492	D;D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2;-3.2	5.34	4.42	0.53409	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.96405	0.8827	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.948;0.98;0.978;0.997	D	0.96782	0.9576	10	0.87932	D	0	-17.1028	13.5733	0.61860	0.0755:0.0:0.9245:0.0	.	87;109;109;109;109	F8W9R3;P51797-3;P51797-4;P51797-2;P51797	.;.;.;.;CLCN6_HUMAN	N	109;109;109;87;109;109;109;109	ENSP00000308367:K109N;ENSP00000234488:K109N;ENSP00000365680:K109N;ENSP00000365670:K87N;ENSP00000365679:K109N	ENSP00000308367:K109N	K	+	3	2	CLCN6	11802179	1.000000	0.71417	1.000000	0.80357	0.219000	0.24729	3.981000	0.56902	1.380000	0.46344	-0.150000	0.13652	AAG	-	superfamily_Clc chloride channel		0.453	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN6	protein_coding	OTTHUMT00000006639.2	G	NM_001286		11802179	+1	no_errors	NM_001286	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
SUGP1	57794	genome.wustl.edu	37	19	19414218	19414218	+	Nonsense_Mutation	SNP	G	G	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr19:19414218G>T	ENST00000247001.5	-	6	1049	c.702C>A	c.(700-702)taC>taA	p.Y234*	SUGP1_ENST00000585763.1_5'UTR	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	234					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						CCTTCTTCCTGTAGTAGAGGA	0.502																																																0			19											150.0	138.0	142.0					19																	19414218		2203	4300	6503	19275218	SO:0001587	stop_gained	57794			AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"""G patch domain containing"""	18643	protein-coding gene	gene with protein product		607992	"""splicing factor 4"""	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.702C>A	19.37:g.19414218G>T	ENSP00000247001:p.Tyr234*		19275218	O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Nonsense_Mutation	SNP	superfamily_Surp module (SWAP domain Pfam 01805),HMMSmart_SM00648,HMMPfam_Surp,HMMSmart_SM00443,HMMPfam_G-patch	p.Y234*	ENST00000247001.5	37	c.702	CCDS12399.1	19	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307128	0.81247	.	.	ENSG00000105705	ENST00000247001	.	.	.	5.02	2.87	0.33458	.	0.133646	0.52532	D	0.000066	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8	0.34903	0.1787:0.0:0.8213:0.0	.	.	.	.	X	234	.	ENSP00000247001:Y234X	Y	-	3	2	SUGP1	19275218	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.182000	0.50910	0.535000	0.28714	-0.140000	0.14226	TAC	-	superfamily_Surp module (SWAP domain Pfam 01805),HMMSmart_SM00648,HMMPfam_Surp		0.502	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF4	protein_coding	OTTHUMT00000460128.4	G	NM_021164		19275218	-1	no_errors	NM_172231	genbank	human	validated	54_36p	nonsense	SNP	1.000	T
LAMA3	3909	genome.wustl.edu	37	18	21494780	21494780	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr18:21494780G>A	ENST00000313654.9	+	58	7841	c.7600G>A	c.(7600-7602)Gaa>Aaa	p.E2534K	LAMA3_ENST00000587184.1_Missense_Mutation_p.E869K|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Missense_Mutation_p.E2478K|LAMA3_ENST00000269217.6_Missense_Mutation_p.E925K	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2534	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TTTGGATCCTGAAAATGTTGT	0.333																																																0			18											74.0	73.0	73.0					18																	21494780		2203	4300	6503	19748778	SO:0001583	missense	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.7600G>A	18.37:g.21494780G>A	ENSP00000324532:p.Glu2534Lys		19748778	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	HMMSmart_SM00136,HMMPfam_Laminin_N,superfamily_Galactose-binding domain-like,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMSmart_SM00181,HMMSmart_SM00281,HMMPfam_Laminin_B,PatternScan_EGF_2,HMMPfam_Laminin_I,HMMPfam_Laminin_II,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,PatternScan_CHAPERONINS_CPN60	p.E2534K	ENST00000313654.9	37	c.7600	CCDS42419.1	18	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238867	0.58995	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.63096	-0.02;-0.02;-0.02	4.87	4.87	0.63330	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.75774	0.3895	M	0.70595	2.14	0.35010	D	0.756804	D;D;P;D	0.76494	0.999;0.999;0.947;0.992	D;D;P;D	0.85130	0.996;0.997;0.801;0.913	T	0.80063	-0.1539	9	0.37606	T	0.19	.	12.068	0.53598	0.0901:0.0:0.9099:0.0	.	869;925;2478;2534	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	K	2534;2478;925	ENSP00000324532:E2534K;ENSP00000382432:E2478K;ENSP00000269217:E925K	ENSP00000269217:E925K	E	+	1	0	LAMA3	19748778	0.978000	0.34361	0.998000	0.56505	0.591000	0.36615	1.826000	0.39092	2.513000	0.84729	0.561000	0.74099	GAA	-	superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282		0.333	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	protein_coding	OTTHUMT00000254824.3	G	NM_000227, NM_198129		19748778	+1	no_errors	NM_198129	genbank	human	reviewed	54_36p	missense	SNP	0.981	A
MYH6	4624	genome.wustl.edu	37	14	23868006	23868006	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr14:23868006C>A	ENST00000356287.3	-	14	1851	c.1822G>T	c.(1822-1824)Gcc>Tcc	p.A608S	MYH6_ENST00000405093.3_Missense_Mutation_p.A608S			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	608	Myosin motor.			A -> G (in Ref. 1; BAA00791). {ECO:0000305}.	adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGGTACAGGGCCACAACAGTC	0.577																																																0			14											187.0	162.0	170.0					14																	23868006		2203	4300	6503	22937846	SO:0001583	missense	4624			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.1822G>T	14.37:g.23868006C>A	ENSP00000348634:p.Ala608Ser		22937846	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	HMMPfam_Myosin_N,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,superfamily_Prefoldin,HMMPfam_Myosin_tail_1	p.A608S	ENST00000356287.3	37	c.1822	CCDS9600.1	14	.	.	.	.	.	.	.	.	.	.	.	15.70	2.911758	0.52439	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.86769	-2.17;-2.17	4.61	4.61	0.57282	Myosin head, motor domain (2);	.	.	.	.	D	0.82843	0.5125	L	0.28740	0.885	0.24190	N	0.995559	B	0.13594	0.008	B	0.25759	0.063	T	0.72561	-0.4256	9	0.41790	T	0.15	.	16.776	0.85550	0.0:1.0:0.0:0.0	.	608	P13533	MYH6_HUMAN	S	608	ENSP00000386041:A608S;ENSP00000348634:A608S	ENSP00000348634:A608S	A	-	1	0	MYH6	22937846	0.182000	0.23173	0.979000	0.43373	0.827000	0.46813	3.769000	0.55303	2.284000	0.76573	0.655000	0.94253	GCC	-	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head		0.577	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	protein_coding	OTTHUMT00000071796.3	C			22937846	-1	no_errors	NM_002471	genbank	human	validated	54_36p	missense	SNP	1.000	A
SUPT6H	6830	genome.wustl.edu	37	17	27003401	27003401	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr17:27003401G>T	ENST00000314616.6	+	7	1133	c.850G>T	c.(850-852)Gat>Tat	p.D284Y	SUPT6H_ENST00000347486.4_Missense_Mutation_p.D284Y	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	284	Interaction with IWS1. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CCACCTCACAGATCAGGACAA	0.507																																																0			17											84.0	80.0	81.0					17																	27003401		2203	4300	6503	24027528	SO:0001583	missense	6830			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.850G>T	17.37:g.27003401G>T	ENSP00000319104:p.Asp284Tyr		24027528	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	HMMPfam_Tex_N,HMMSmart_SM00732,superfamily_Nucleic acid-binding proteins,HMMSmart_SM00316,HMMPfam_S1,superfamily_SH2 domain,HMMSmart_SM00252	p.D284Y	ENST00000314616.6	37	c.850	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676474	0.88445	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.84088	0.5395	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	D	0.86268	0.1659	9	0.87932	D	0	-21.4486	19.1693	0.93570	0.0:0.0:1.0:0.0	.	284	Q7KZ85	SPT6H_HUMAN	Y	284	.	ENSP00000319104:D284Y	D	+	1	0	SUPT6H	24027528	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.159000	0.94728	2.625000	0.88918	0.655000	0.94253	GAT	-	NULL		0.507	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	protein_coding	OTTHUMT00000446422.2	G	NM_003170		24027528	+1	no_errors	NM_003170	genbank	human	validated	54_36p	missense	SNP	1.000	T
CRYBA1	1411	genome.wustl.edu	37	17	27577316	27577316	+	Silent	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr17:27577316C>T	ENST00000225387.3	+	3	214	c.213C>T	c.(211-213)ggC>ggT	p.G71G		NM_005208.4	NP_005199.2	P05813	CRBA1_HUMAN	crystallin, beta A1	71	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			TGGAAAGTGGCGCGTGAGTAT	0.537																																																0			17											115.0	109.0	111.0					17																	27577316		2203	4300	6503	24601442	SO:0001819	synonymous_variant	1411				CCDS11249.1	17q11.2-q12	2008-07-18			ENSG00000108255	ENSG00000108255			2394	protein-coding gene	gene with protein product	"""eye lens structural protein"""	123610		CRYB1		3745196, 3770741	Standard	NM_005208		Approved		uc002hdw.3	P05813	OTTHUMG00000132729	ENST00000225387.3:c.213C>T	17.37:g.27577316C>T			24601442	Q13633|Q14CM9	Silent	SNP	superfamily_gamma-Crystallin-like,HMMPfam_Crystall,HMMSmart_SM00247	p.G71	ENST00000225387.3	37	c.213	CCDS11249.1	17																																																																																			-	superfamily_gamma-Crystallin-like,HMMPfam_Crystall,HMMSmart_SM00247		0.537	CRYBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYBA1	protein_coding	OTTHUMT00000256071.2	C	NM_005208		24601442	+1	no_errors	NM_005208	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
MAGEB6	158809	genome.wustl.edu	37	X	26212169	26212169	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chrX:26212169C>T	ENST00000379034.1	+	2	355	c.206C>T	c.(205-207)cCc>cTc	p.P69L		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	69	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GGAGTGTCACCCACTGGGTCT	0.527																																																0			X											105.0	94.0	98.0					X																	26212169		2202	4300	6502	26122090	SO:0001583	missense	158809			AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.206C>T	X.37:g.26212169C>T	ENSP00000368320:p.Pro69Leu		26122090	Q6GS19|Q9H219	Missense_Mutation	SNP	HMMPfam_MAGE	p.P69L	ENST00000379034.1	37	c.206	CCDS14217.1	X	.	.	.	.	.	.	.	.	.	.	C	7.576	0.667779	0.14710	.	.	ENSG00000176746	ENST00000379034	T	0.03951	3.75	1.41	-2.51	0.06365	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.03915	0.0110	L	0.46157	1.445	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44817	-0.9303	9	0.25106	T	0.35	.	2.7767	0.05349	0.0:0.3609:0.2479:0.3912	.	69	Q8N7X4	MAGB6_HUMAN	L	69	ENSP00000368320:P69L	ENSP00000368320:P69L	P	+	2	0	MAGEB6	26122090	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.939000	0.03933	-0.995000	0.03459	-1.602000	0.00811	CCC	-	NULL		0.527	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB6	protein_coding	OTTHUMT00000056123.1	C	NM_173523		26122090	+1	no_errors	NM_173523	genbank	human	reviewed	54_36p	missense	SNP	0.000	T
APBB1IP	54518	genome.wustl.edu	37	10	26781274	26781274	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr10:26781274G>A	ENST00000376236.4	+	3	474	c.19G>A	c.(19-21)Gac>Aac	p.D7N	APBB1IP_ENST00000356785.4_Missense_Mutation_p.D7N	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	7					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						GTCAAGTGAAGACATAGACCA	0.408																																																0			10											149.0	139.0	142.0					10																	26781274		2203	4300	6503	26821280	SO:0001583	missense	54518			AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.19G>A	10.37:g.26781274G>A	ENSP00000365411:p.Asp7Asn		26821280	Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	HMMPfam_RA,HMMSmart_RA,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH	p.D7N	ENST00000376236.4	37	c.19	CCDS31167.1	10	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923784	0.92319	.	.	ENSG00000077420	ENST00000445780;ENST00000376236;ENST00000356785	T	0.69685	-0.42	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.81173	0.4767	M	0.65975	2.015	0.58432	D	0.999992	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.99;0.996;1.0	T	0.82343	-0.0504	10	0.87932	D	0	.	17.9328	0.89004	0.0:0.0:1.0:0.0	.	7;7;7	B4E100;Q7Z5R6;Q8IYL7	.;AB1IP_HUMAN;.	N	7	ENSP00000365411:D7N	ENSP00000349237:D7N	D	+	1	0	APBB1IP	26821280	1.000000	0.71417	0.971000	0.41717	0.989000	0.77384	7.009000	0.76347	2.745000	0.94114	0.491000	0.48974	GAC	-	NULL		0.408	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	APBB1IP	protein_coding	OTTHUMT00000047270.1	G	NM_019043		26821280	+1	no_errors	NM_019043	genbank	human	validated	54_36p	missense	SNP	1.000	A
NDNL2	56160	genome.wustl.edu	37	15	29561597	29561597	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr15:29561597G>C	ENST00000332303.4	-	1	436	c.313C>G	c.(313-315)Ccg>Gcg	p.P105A	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	105	Interaction with NSMCE1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CGCTTGATCGGAATCTTCTTC	0.602																																																0			15											101.0	96.0	98.0					15																	29561597		2203	4300	6503	27348889	SO:0001583	missense	56160			AF490510	CCDS10023.1	15q13.1	2008-02-01			ENSG00000185115	ENSG00000185115			7677	protein-coding gene	gene with protein product		608243				18086888	Standard	NM_138704		Approved	HCA4, MAGEG1, MAGEL3, NSE3, NSMCE3	uc001zco.3	Q96MG7	OTTHUMG00000129261	ENST00000332303.4:c.313C>G	15.37:g.29561597G>C	ENSP00000330694:p.Pro105Ala		27348889	Q8IW16|Q8TEI6|Q9H214	Missense_Mutation	SNP	HMMPfam_MAGE	p.P105A	ENST00000332303.4	37	c.313	CCDS10023.1	15	.	.	.	.	.	.	.	.	.	.	G	18.86	3.714204	0.68730	.	.	ENSG00000185115	ENST00000332303	T	0.06608	3.28	3.65	2.73	0.32206	.	0.000000	0.85682	U	0.000000	T	0.20088	0.0483	M	0.82193	2.58	0.43010	D	0.994548	D	0.60575	0.988	D	0.65323	0.934	T	0.00747	-1.1583	10	0.48119	T	0.1	.	6.905	0.24303	0.1254:0.0:0.8746:0.0	.	105	Q96MG7	MAGG1_HUMAN	A	105	ENSP00000330694:P105A	ENSP00000330694:P105A	P	-	1	0	NDNL2	27348889	1.000000	0.71417	0.944000	0.38274	0.958000	0.62258	5.897000	0.69831	1.093000	0.41377	0.563000	0.77884	CCG	-	HMMPfam_MAGE		0.602	NDNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDNL2	protein_coding	OTTHUMT00000251370.1	G	NM_138704		27348889	-1	no_errors	NM_138704	genbank	human	reviewed	54_36p	missense	SNP	0.883	C
PPP4R3CP	139420	genome.wustl.edu	37	X	27479427	27479427	+	IGR	SNP	C	C	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chrX:27479427C>A								RP11-268G12.1 (62313 upstream) : DCAF8L2 (129072 downstream)																							TTTTGCAGTACAGAATGTAAA	0.328																																																0			X																																								27389348	SO:0001628	intergenic_variant	139420																															X.37:g.27479427C>A			27389348		RNA	SNP	-	NULL		37	NULL		X																																																																																			-	-	0	0.328					SMEK3P			C			27389348	-1	pseudogene	NR_002784	genbank	human	provisional	54_36p	rna	SNP	0.000	A
SVIL	6840	genome.wustl.edu	37	10	29776123	29776123	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr10:29776123C>T	ENST00000355867.4	-	24	5206	c.4454G>A	c.(4453-4455)gGa>gAa	p.G1485E	SVIL_ENST00000375400.3_Missense_Mutation_p.G1059E|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000538146.1_Missense_Mutation_p.G277E|SVIL_ENST00000535393.1_Missense_Mutation_p.G399E|SVIL_ENST00000375398.2_Missense_Mutation_p.G1485E	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1485	Interaction with NEB.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGCAAACTCTCCTACCCACAG	0.517																																																0			10											68.0	63.0	65.0					10																	29776123		2203	4300	6503	29816129	SO:0001583	missense	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.4454G>A	10.37:g.29776123C>T	ENSP00000348128:p.Gly1485Glu		29816129	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	superfamily_Actin depolymerizing proteins,HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_VHP Villin headpiece domain,HMMPfam_VHP,HMMSmart_SM00153	p.G1485E	ENST00000355867.4	37	c.4454	CCDS7164.1	10	.	.	.	.	.	.	.	.	.	.	C	28.3	4.911773	0.92178	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994;ENST00000538146	D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07	4.45	4.45	0.53987	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	D	0.95281	0.8469	H	0.97540	4.025	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	D	0.97238	0.9889	10	0.87932	D	0	-26.2238	17.366	0.87364	0.0:1.0:0.0:0.0	.	399;277;1059;1485	F5H2Q5;F5GXV0;O95425-2;O95425	.;.;.;SVIL_HUMAN	E	1059;1485;1485;399;439;277	ENSP00000364549:G1059E;ENSP00000364547:G1485E;ENSP00000348128:G1485E;ENSP00000445472:G399E;ENSP00000440343:G277E	ENSP00000348128:G1485E	G	-	2	0	SVIL	29816129	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.541000	0.82084	2.315000	0.78130	0.485000	0.47835	GGA	-	superfamily_Actin depolymerizing proteins,HMMSmart_SM00262,HMMPfam_Gelsolin		0.517	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SVIL	protein_coding	OTTHUMT00000047395.1	C			29816129	-1	no_errors	NM_021738	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
ITGAL	3683	genome.wustl.edu	37	16	30522399	30522399	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr16:30522399G>A	ENST00000356798.6	+	24	2908	c.2728G>A	c.(2728-2730)Gac>Aac	p.D910N	ITGAL_ENST00000358164.5_Missense_Mutation_p.D826N|ITGAL_ENST00000433423.2_Missense_Mutation_p.D144N	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	910					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	CCTCCTGGAGGACAACTCAGC	0.557																																					NSCLC(110;1462 1641 3311 33990 49495)											0			16											196.0	169.0	178.0					16																	30522399		2197	4300	6497	30429900	SO:0001583	missense	3683				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2728G>A	16.37:g.30522399G>A	ENSP00000349252:p.Asp910Asn		30429900	O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_Integrin domains,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha	p.D910N	ENST00000356798.6	37	c.2728	CCDS32433.1	16	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420764	0.42918	.	.	ENSG00000005844	ENST00000356798;ENST00000358164;ENST00000433423	T;T;T	0.54479	0.57;0.57;0.57	5.0	3.01	0.34805	Integrin alpha-2 (1);	0.114317	0.39407	N	0.001376	T	0.41050	0.1142	L	0.33710	1.025	0.80722	D	1	P;B;B	0.37083	0.581;0.172;0.022	B;B;B	0.40782	0.34;0.252;0.065	T	0.10660	-1.0620	10	0.30078	T	0.28	.	8.2017	0.31428	0.189:0.0:0.811:0.0	.	144;826;910	B4E021;Q96HB1;P20701	.;.;ITAL_HUMAN	N	910;826;144	ENSP00000349252:D910N;ENSP00000350886:D826N;ENSP00000409377:D144N	ENSP00000349252:D910N	D	+	1	0	ITGAL	30429900	0.875000	0.30112	0.984000	0.44739	0.469000	0.32828	1.058000	0.30504	0.519000	0.28406	0.555000	0.69702	GAC	-	HMMPfam_Integrin_alpha2,superfamily_Integrin domains		0.557	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAL	protein_coding	OTTHUMT00000434508.2	G			30429900	+1	no_errors	NM_002209	genbank	human	reviewed	54_36p	missense	SNP	0.969	A
SLFN12L	100506736	genome.wustl.edu	37	17	33825937	33825937	+	Intron	SNP	A	A	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr17:33825937A>G	ENST00000361112.4	-	3	980				RP11-1094M14.5_ENST00000592908.1_RNA			Q6IEE8	SN12L_HUMAN	schlafen family member 12-like							integral component of membrane (GO:0016021)	ATP binding (GO:0005524)			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TATTCTGCAGAACGATGCTGC	0.527																																																0			17																																								30850050	SO:0001627	intron_variant	645744			AK172761	CCDS56026.1	17q12	2011-05-24				ENSG00000205045			33920	protein-coding gene	gene with protein product		614956				9846487	Standard	NM_001195790		Approved		uc021tuy.1	Q6IEE8		ENST00000361112.4:c.102-18723T>C	17.37:g.33825937A>G			30850050	F5H6G3	RNA	SNP	-	NULL	ENST00000361112.4	37	NULL		17																																																																																			-	-		0.527	SLFN12L-005	KNOWN	basic|appris_candidate	protein_coding	LOC645744	protein_coding	OTTHUMT00000399529.1	A	XM_496206		30850050	+1	pseudogene	XR_017633	genbank	human	model	54_36p	rna	SNP	1.000	G
Unknown	0	genome.wustl.edu	37	16	32442093	32442093	+	IGR	SNP	G	G	A	rs371432079		TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr16:32442093G>A								RP11-17M15.2 (120217 upstream) : RP11-626K17.3 (23839 downstream)																							CTGTTTCATCGCTTGAATCAA	0.244																																																0			16																																								32349594	SO:0001628	intergenic_variant	647157																															16.37:g.32442093G>A			32349594		RNA	SNP	-	NULL		37	NULL		16																																																																																			-	-	0	0.244					LOC647157			G			32349594	+1	pseudogene	XR_017478	genbank	human	model	54_36p	rna	SNP	0.932	A
SYNGAP1	8831	genome.wustl.edu	37	6	33402968	33402968	+	Missense_Mutation	SNP	T	T	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr6:33402968T>G	ENST00000418600.2	+	6	650	c.549T>G	c.(547-549)caT>caG	p.H183Q	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.H183Q|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.H124Q	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	183	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CACACTCTCATGAGTCCTTGC	0.532																																																0			6											116.0	105.0	109.0					6																	33402968		2203	4300	6503	33510946	SO:0001583	missense	8831			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.549T>G	6.37:g.33402968T>G	ENSP00000403636:p.His183Gln		33510946	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	HMMSmart_SM00233,superfamily_PH domain-like,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2,HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1	p.H168Q	ENST00000418600.2	37	c.504	CCDS34434.2	6	.	.	.	.	.	.	.	.	.	.	T	17.92	3.505717	0.64410	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.21031	2.03;2.13;2.17	4.52	-3.17	0.05202	Pleckstrin homology domain (1);	0.156689	0.56097	D	0.000029	T	0.27278	0.0669	M	0.81341	2.54	0.58432	D	0.999996	P;P;D	0.60575	0.838;0.899;0.988	B;P;P	0.62649	0.276;0.466;0.905	T	0.30090	-0.9990	10	0.87932	D	0	.	11.0036	0.47620	0.0:0.5685:0.0:0.4315	.	183;183;183	Q96PV0;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.	Q	183;183;183;124	ENSP00000293748:H183Q;ENSP00000403636:H183Q;ENSP00000412475:H124Q	ENSP00000293748:H183Q	H	+	3	2	SYNGAP1	33510946	0.288000	0.24324	0.979000	0.43373	0.976000	0.68499	-0.380000	0.07427	-0.756000	0.04703	0.482000	0.46254	CAT	-	HMMSmart_SM00233		0.532	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGAP1	protein_coding	OTTHUMT00000076151.4	T	XM_166407		33510946	+1	no_errors	NM_006772	genbank	human	validated	54_36p	missense	SNP	0.981	G
CSMD2	114784	genome.wustl.edu	37	1	34052763	34052763	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr1:34052763G>C	ENST00000373381.4	-	45	7038	c.6862C>G	c.(6862-6864)Cca>Gca	p.P2288A		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2290	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTGGTGAGTGGATAAGCTGAA	0.463																																																0			1											91.0	72.0	78.0					1																	34052763		2203	4300	6503	33825350	SO:0001583	missense	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.6862C>G	1.37:g.34052763G>C	ENSP00000362479:p.Pro2288Ala		33825350	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,PatternScan_GLYCOSYL_HYDROL_F10,PatternScan_IG_MHC	p.P2290A	ENST00000373381.4	37	c.6868		1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.017227	0.54576	.	.	ENSG00000121904	ENST00000373381	T	0.23552	1.9	5.74	5.74	0.90152	CUB (3);	0.124111	0.56097	D	0.000040	T	0.22044	0.0531	L	0.33339	1.005	0.80722	D	1	B;B	0.13594	0.008;0.004	B;B	0.23150	0.019;0.044	T	0.07673	-1.0760	10	0.08837	T	0.75	.	18.9112	0.92485	0.0:0.0:1.0:0.0	.	2290;2288	Q7Z408;E7EUA6	CSMD2_HUMAN;.	A	2288	ENSP00000362479:P2288A	ENSP00000241312:P2290A	P	-	1	0	CSMD2	33825350	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.129000	0.50500	2.717000	0.92951	0.655000	0.94253	CCA	-	superfamily_Spermadhesin CUB domain,HMMSmart_SM00042		0.463	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	protein_coding		G	NM_052896		33825350	-1	no_errors	NM_052896	genbank	human	validated	54_36p	missense	SNP	1.000	C
C9orf131	138724	genome.wustl.edu	37	9	35043225	35043225	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr9:35043225C>G	ENST00000312292.5	+	2	646	c.599C>G	c.(598-600)cCc>cGc	p.P200R	FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Missense_Mutation_p.P127R|C9orf131_ENST00000421362.2_Missense_Mutation_p.P152R	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	200										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TGGGGTCTCCCCTCTCTGCAC	0.537																																																0			9											106.0	101.0	103.0					9																	35043225		2203	4300	6503	35033225	SO:0001583	missense	138724			BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.599C>G	9.37:g.35043225C>G	ENSP00000308279:p.Pro200Arg		35033225	A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	NULL	p.P200R	ENST00000312292.5	37	c.599	CCDS6572.2	9	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140830	0.77775	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000378745	T;T;T;T	0.64618	0.81;0.75;0.87;-0.11	5.31	5.31	0.75309	.	0.000000	0.49305	D	0.000157	T	0.81716	0.4881	M	0.88310	2.945	0.39497	D	0.968135	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.85257	0.1048	10	0.72032	D	0.01	-16.6619	14.3517	0.66708	0.0:1.0:0.0:0.0	.	200;127;152	Q5VYM1;A6NLE6;E9PB26	CI131_HUMAN;.;.	R	152;127;200;165	ENSP00000393683:P152R;ENSP00000346472:P127R;ENSP00000308279:P200R;ENSP00000368019:P165R	ENSP00000308279:P200R	P	+	2	0	C9orf131	35033225	0.999000	0.42202	1.000000	0.80357	0.983000	0.72400	3.266000	0.51569	2.769000	0.95229	0.655000	0.94253	CCC	-	NULL		0.537	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf131	protein_coding	OTTHUMT00000052283.5	C	NM_203299		35033225	+1	no_errors	NM_203299	genbank	human	validated	54_36p	missense	SNP	1.000	G
KCNH4	23415	genome.wustl.edu	37	17	40330944	40330944	+	Silent	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr17:40330944C>T	ENST00000264661.3	-	2	509	c.177G>A	c.(175-177)gaG>gaA	p.E59E	KCNH4_ENST00000607371.1_Silent_p.E59E	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	59	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCTGCATGACCTCGGTGCGAC	0.637																																					NSCLC(117;707 1703 2300 21308 31858)											0			17											60.0	55.0	56.0					17																	40330944		2203	4300	6503	37584470	SO:0001819	synonymous_variant	23415			AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.177G>A	17.37:g.40330944C>T			37584470		Silent	SNP	PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,HMMSmart_PAS,superfamily_SSF55785,HMMPfam_PAS,HMMSmart_PAC,superfamily_SSF81324,HMMPfam_Ion_trans,superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding	p.E59	ENST00000264661.3	37	c.177	CCDS11420.1	17																																																																																			-	HMMSmart_PAS,superfamily_SSF55785,HMMPfam_PAS		0.637	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	KCNH4	protein_coding	OTTHUMT00000449791.2	C	NM_012285		37584470	-1	no_errors	NM_012285	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
DNAH8	1769	genome.wustl.edu	37	6	38893978	38893978	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr6:38893978G>T	ENST00000359357.3	+	72	10713	c.10459G>T	c.(10459-10461)Gat>Tat	p.D3487Y	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.D3451Y|DNAH8_ENST00000449981.2_Missense_Mutation_p.D3704Y|RP1-207H1.3_ENST00000418399.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3487	AAA 5. {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(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAAAGAAAATGATTTACAGGT	0.363																																																0			6											73.0	70.0	71.0					6																	38893978		2203	4300	6503	39001956	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.10459G>T	6.37:g.38893978G>T	ENSP00000352312:p.Asp3487Tyr		39001956	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,PatternScan_THIOL_PROTEASE_HIS,HMMPfam_AAA_5,HMMPfam_Dynein_heavy	p.D3487Y	ENST00000359357.3	37	c.10459		6	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153630	0.78114	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.27890	1.64;1.64;1.64	5.75	5.75	0.90469	.	0.219169	0.45867	D	0.000326	T	0.51193	0.1660	M	0.85859	2.78	0.53688	D	0.999972	P	0.44816	0.844	P	0.55345	0.774	T	0.52939	-0.8508	10	0.62326	D	0.03	.	20.3046	0.98621	0.0:0.0:1.0:0.0	.	3487	Q96JB1	DYH8_HUMAN	Y	3692;3692;3487;3451	ENSP00000333363:D3692Y;ENSP00000352312:D3487Y;ENSP00000402294:D3451Y	ENSP00000333363:D3692Y	D	+	1	0	DNAH8	39001956	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.181000	0.65054	2.878000	0.98634	0.650000	0.86243	GAT	-	NULL		0.363	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	protein_coding	OTTHUMT00000043574.1	G	NM_001206927		39001956	+1	no_errors	NM_001371	genbank	human	validated	54_36p	missense	SNP	1.000	T
MAP4K3	8491	genome.wustl.edu	37	2	39487854	39487854	+	Missense_Mutation	SNP	T	T	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr2:39487854T>C	ENST00000263881.3	-	29	2525	c.2201A>G	c.(2200-2202)gAg>gGg	p.E734G	MAP4K3_ENST00000437545.1_Missense_Mutation_p.E650G|MAP4K3_ENST00000341681.5_Missense_Mutation_p.E713G|MAP4K3_ENST00000536018.1_Missense_Mutation_p.E287G	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	734	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TAAAGGGTACTCCTGTTCAGG	0.383																																																0			2											88.0	85.0	86.0					2																	39487854		2203	4300	6503	39341358	SO:0001583	missense	8491			AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.2201A>G	2.37:g.39487854T>C	ENSP00000263881:p.Glu734Gly		39341358	Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,HMMSmart_SM00036,HMMPfam_CNH	p.E734G	ENST00000263881.3	37	c.2201	CCDS1803.1	2	.	.	.	.	.	.	.	.	.	.	T	17.51	3.408019	0.62399	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681;ENST00000542094;ENST00000536018	T;T;T;T	0.77750	-1.12;-0.95;-1.09;1.78	4.98	4.98	0.66077	Citron-like (3);	0.332441	0.36034	N	0.002829	D	0.83257	0.5215	M	0.80616	2.505	0.52501	D	0.999953	P;P	0.41366	0.747;0.635	P;P	0.47299	0.543;0.515	D	0.86203	0.1620	10	0.87932	D	0	.	14.8351	0.70177	0.0:0.0:0.0:1.0	.	713;734	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	G	734;650;713;30;287	ENSP00000263881:E734G;ENSP00000416958:E650G;ENSP00000345434:E713G;ENSP00000440580:E287G	ENSP00000263881:E734G	E	-	2	0	MAP4K3	39341358	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.796000	0.62496	2.085000	0.62840	0.533000	0.62120	GAG	-	HMMSmart_SM00036,HMMPfam_CNH		0.383	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP4K3	protein_coding	OTTHUMT00000219966.2	T	NM_003618		39341358	-1	no_errors	NM_003618	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
NYX	60506	genome.wustl.edu	37	X	41334057	41334057	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chrX:41334057G>T	ENST00000342595.2	+	2	1807	c.1351G>T	c.(1351-1353)Gtg>Ttg	p.V451L	NYX_ENST00000378220.1_Missense_Mutation_p.V451L	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	451					response to stimulus (GO:0050896)|visual perception (GO:0007601)	intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						CTCCCGTGGGGTGGGAGGCGC	0.706																																																0			X											8.0	9.0	8.0					X																	41334057		2056	4042	6098	41219001	SO:0001583	missense	60506			AF254868	CCDS14256.1	Xp11.4	2014-01-28			ENSG00000188937	ENSG00000188937			8082	protein-coding gene	gene with protein product		300278		CSNB1, CSNB4		11062471, 11062472	Standard	NM_022567		Approved	CLRP, CSNB1A	uc004dfh.2	Q9GZU5	OTTHUMG00000021370	ENST00000342595.2:c.1351G>T	X.37:g.41334057G>T	ENSP00000340328:p.Val451Leu		41219001	D3DWC0|Q2M1S4|Q5H983|Q9H4J0	Missense_Mutation	SNP	HMMPfam_LRRNT,HMMSmart_LRRNT,superfamily_SSF52058,HMMSmart_LRR_TYP,HMMPfam_LRR_1,HMMSmart_LRRCT	p.V451L	ENST00000342595.2	37	c.1351	CCDS14256.1	X	.	.	.	.	.	.	.	.	.	.	G	1.730	-0.494459	0.04322	.	.	ENSG00000188937	ENST00000342595;ENST00000378220	T;T	0.59083	0.29;0.29	5.24	-1.21	0.09524	.	1.062510	0.07374	N	0.886260	T	0.26810	0.0656	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.11203	-1.0597	10	0.22109	T	0.4	.	2.0267	0.03520	0.2218:0.4003:0.238:0.1398	.	451	Q9GZU5	NYX_HUMAN	L	451	ENSP00000340328:V451L;ENSP00000367465:V451L	ENSP00000340328:V451L	V	+	1	0	NYX	41219001	0.011000	0.17503	0.000000	0.03702	0.021000	0.10359	0.283000	0.18846	-0.360000	0.08138	-0.988000	0.02552	GTG	-	NULL		0.706	NYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYX	protein_coding	OTTHUMT00000056256.1	G	NM_022567		41219001	+1	no_errors	NM_022567	genbank	human	reviewed	54_36p	missense	SNP	0.006	T
KLHDC3	116138	genome.wustl.edu	37	6	42988453	42988453	+	Silent	SNP	C	C	T	rs143460878		TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr6:42988453C>T	ENST00000326974.4	+	11	1326	c.1131C>T	c.(1129-1131)atC>atT	p.I377I	KLHDC3_ENST00000244670.8_Silent_p.I243I|RRP36_ENST00000244496.5_5'Flank|KLHDC3_ENST00000332245.8_Silent_p.I318I	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	377					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|reciprocal meiotic recombination (GO:0007131)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)	chromatin binding (GO:0003682)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GTCGCCCCATCGTCTCCTCCC	0.577																																																0			6						C	,	1,4405	2.1+/-5.4	0,1,2202	152.0	126.0	135.0		1086,1131	-0.6	1.0	6	dbSNP_134	135	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	KLHDC3	NM_001242872.1,NM_057161.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	362/368,377/383	42988453	1,13005	2203	4300	6503	43096431	SO:0001819	synonymous_variant	116138			AB055925	CCDS4880.1	6p21.1	2003-06-12			ENSG00000124702	ENSG00000124702			20704	protein-coding gene	gene with protein product		611248				12444059, 12606021	Standard	NM_057161		Approved	PEAS, hPeas, dJ20C7.3	uc003otl.3	Q9BQ90	OTTHUMG00000014714	ENST00000326974.4:c.1131C>T	6.37:g.42988453C>T			43096431	A8K2W9	Silent	SNP	superfamily_Galactose oxidase central domain,HMMPfam_Kelch_2,HMMPfam_Kelch_1	p.I377	ENST00000326974.4	37	c.1131	CCDS4880.1	6																																																																																			-	NULL		0.577	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC3	protein_coding	OTTHUMT00000040570.1	C	NM_057161		43096431	+1	no_errors	NM_057161	genbank	human	reviewed	54_36p	silent	SNP	0.970	T
RYR1	6261	genome.wustl.edu	37	19	38968433	38968433	+	Silent	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr19:38968433C>T	ENST00000359596.3	+	30	4377	c.4377C>T	c.(4375-4377)caC>caT	p.H1459H	RYR1_ENST00000355481.4_Silent_p.H1459H|RYR1_ENST00000360985.3_Silent_p.H1459H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1459	6 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ACCATCAGCACGACATGAGCT	0.627																																																0			19											72.0	57.0	62.0					19																	38968433		2203	4300	6503	43660273	SO:0001819	synonymous_variant	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.4377C>T	19.37:g.38968433C>T			43660273	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_RYDR_ITPR,HMMPfam_SPRY,HMMSmart_SM00449,HMMPfam_RyR,HMMPfam_RIH_assoc,superfamily_EF-hand,HMMPfam_RR_TM4-6,HMMPfam_Ion_trans	p.H1459	ENST00000359596.3	37	c.4377	CCDS33011.1	19																																																																																			-	HMMPfam_SPRY,HMMSmart_SM00449		0.627	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	protein_coding	OTTHUMT00000462137.1	C			43660273	+1	no_errors	NM_000540	genbank	human	reviewed	54_36p	silent	SNP	0.998	T
MYL7	58498	genome.wustl.edu	37	7	44179950	44179950	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr7:44179950G>T	ENST00000223364.3	-	4	296	c.270C>A	c.(268-270)ttC>ttA	p.F90L	MYL7_ENST00000458240.1_Missense_Mutation_p.F63L|MYL7_ENST00000434895.1_5'UTR	NM_021223.2	NP_067046.1	Q01449	MLRA_HUMAN	myosin, light chain 7, regulatory	90						A band (GO:0031672)|dendritic spine (GO:0043197)|myosin complex (GO:0016459)	calcium ion binding (GO:0005509)	p.F90L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						AGAGCGTGAGGAAGACGGTGA	0.637																																																1	Substitution - Missense(1)	kidney(1)	7											141.0	118.0	126.0					7																	44179950		2203	4300	6503	44146475	SO:0001583	missense	58498			M94547	CCDS5478.1	7p21-p11.2	2013-01-10	2006-09-29		ENSG00000106631	ENSG00000106631		"""Myosins / Light chain"", ""EF-hand domain containing"""	21719	protein-coding gene	gene with protein product		613993	"""myosin, light polypeptide 7, regulatory"""			8207020	Standard	NM_021223		Approved	MYLC2A, MYL2A	uc003tkg.3	Q01449	OTTHUMG00000023125	ENST00000223364.3:c.270C>A	7.37:g.44179950G>T	ENSP00000223364:p.Phe90Leu		44146475	B2R4L3	Missense_Mutation	SNP	superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1	p.F90L	ENST00000223364.3	37	c.270	CCDS5478.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.94|19.94	3.919357|3.919357	0.73098|0.73098	.|.	.|.	ENSG00000106631|ENSG00000106631	ENST00000446581;ENST00000223364;ENST00000458240;ENST00000457314;ENST00000447951|ENST00000431007	T;D;D;D;T|.	0.88896|.	1.67;-2.44;-2.44;-2.44;1.67|.	4.56|4.56	3.44|3.44	0.39384|0.39384	EF-hand-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80839|0.80839	0.4700|0.4700	M|M	0.92122|0.92122	3.275|3.275	0.58432|0.58432	D|D	0.999998|0.999998	D|.	0.56521|.	0.976|.	P|.	0.61132|.	0.884|.	D|D	0.85321|0.85321	0.1084|0.1084	10|5	0.62326|.	D|.	0.03|.	.|.	12.4189|12.4189	0.55510|0.55510	0.104:0.0:0.896:0.0|0.104:0.0:0.896:0.0	.|.	90|.	Q01449|.	MLRA_HUMAN|.	L|T	17;90;63;112;119|103	ENSP00000416010:F17L;ENSP00000223364:F90L;ENSP00000403360:F63L;ENSP00000389202:F112L;ENSP00000403988:F119L|.	ENSP00000223364:F90L|.	F|P	-|-	3|1	2|0	MYL7|MYL7	44146475|44146475	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	1.756000|1.756000	0.38390|0.38390	2.084000|2.084000	0.62774|0.62774	0.549000|0.549000	0.68633|0.68633	TTC|CCT	-	superfamily_SSF47473		0.637	MYL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL7	protein_coding	OTTHUMT00000059446.4	G	NM_021223		44146475	-1	no_errors	NM_021223	genbank	human	validated	54_36p	missense	SNP	1.000	T
CXCL12	6387	genome.wustl.edu	37	10	44876221	44876221	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr10:44876221G>T	ENST00000374429.2	-	2	255	c.169C>A	c.(169-171)Ctt>Att	p.L57I	AL137026.1_ENST00000593376.1_Intron|CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000496375.1_5'UTR|CXCL12_ENST00000343575.6_Missense_Mutation_p.L57I|CXCL12_ENST00000374426.2_Missense_Mutation_p.L57I|CXCL12_ENST00000395795.4_Missense_Mutation_p.L57I|CXCL12_ENST00000395794.2_Missense_Mutation_p.L57I	NM_000609.5|NM_001277990.1	NP_000600.1|NP_001264919.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	57					adult locomotory behavior (GO:0008344)|ameboidal cell migration (GO:0001667)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|motor neuron axon guidance (GO:0008045)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of leukocyte tethering or rolling (GO:1903237)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|patterning of blood vessels (GO:0001569)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell adhesion (GO:0045785)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of T cell migration (GO:2000406)|regulation of actin polymerization or depolymerization (GO:0008064)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)|telencephalon cell migration (GO:0022029)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|CXCR chemokine receptor binding (GO:0045236)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Tinzaparin(DB06822)	ACAATCTGAAGGGCACAGTTT	0.428																																																0			10											243.0	225.0	231.0					10																	44876221		2203	4300	6503	44196227	SO:0001583	missense	6387			L36033	CCDS7207.1, CCDS31186.1, CCDS44373.1, CCDS53527.1, CCDS60518.1	10q11.1	2013-02-28	2010-05-11	2002-08-23	ENSG00000107562	ENSG00000107562		"""Endogenous ligands"""	10672	protein-coding gene	gene with protein product		600835	"""stromal cell-derived factor 1"""	SDF1A, SDF1B, SDF1		7490086	Standard	NM_001033886		Approved	SCYB12, SDF-1a, SDF-1b, PBSF, TLSF-a, TLSF-b, TPAR1	uc021ppm.1	P48061	OTTHUMG00000018054	ENST00000374429.2:c.169C>A	10.37:g.44876221G>T	ENSP00000363551:p.Leu57Ile		44196227	B2R4G0|E7EVL0|H7BYN8|Q2L985|Q2L986|Q2L988|Q5IT36|Q6ICW0|Q9H554	Missense_Mutation	SNP	HMMPfam_IL8,superfamily_Chemokine_IL8,HMMSmart_SCY	p.L57I	ENST00000374429.2	37	c.169	CCDS44373.1	10	.	.	.	.	.	.	.	.	.	.	g	13.37	2.218018	0.39201	.	.	ENSG00000107562	ENST00000395795;ENST00000374429;ENST00000374426;ENST00000343575;ENST00000395794	T;T;T;T;T	0.04758	3.56;3.56;3.56;3.56;3.56	5.47	4.57	0.56435	Chemokine interleukin-8-like domain (3);	0.123456	0.64402	D	0.000011	T	0.06962	0.0177	.	.	.	0.30265	N	0.792826	P;P	0.41420	0.562;0.749	B;B	0.42555	0.201;0.391	T	0.03240	-1.1057	9	0.46703	T	0.11	-43.821	12.0974	0.53763	0.0838:0.0:0.9162:0.0	.	57;57	P48061-3;P48061	.;SDF1_HUMAN	I	57	ENSP00000379141:L57I;ENSP00000363551:L57I;ENSP00000363548:L57I;ENSP00000339913:L57I;ENSP00000379140:L57I	ENSP00000339913:L57I	L	-	1	0	CXCL12	44196227	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	5.400000	0.66320	1.325000	0.45301	-0.150000	0.13652	CTT	-	HMMPfam_IL8,superfamily_Chemokine_IL8,HMMSmart_SCY		0.428	CXCL12-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CXCL12	protein_coding	OTTHUMT00000047738.2	G	NM_000609		44196227	-1	no_errors	NM_001033886	genbank	human	validated	54_36p	missense	SNP	0.998	T
IFNL2	282616	genome.wustl.edu	37	19	39760395	39760395	+	Silent	SNP	G	G	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr19:39760395G>A	ENST00000331982.5	+	5	493	c.438G>A	c.(436-438)acG>acA	p.T146T		NM_172138.1	NP_742150.1	Q8IZJ0	IFNL2_HUMAN	interferon, lambda 2	146					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|mucosal immune response (GO:0002385)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											CTCAGCCCACGGCAGGGCCCA	0.677																																																0			19											15.0	22.0	20.0					19																	39760395		2182	4279	6461	44452235	SO:0001819	synonymous_variant	282616			AY129148	CCDS42567.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000183709	ENSG00000183709		"""Interferons"""	18364	protein-coding gene	gene with protein product		607401	"""interleukin 28A"", ""interleukin 28A (interferon, lambda 2)"""	IL28A			Standard	NM_172138		Approved	IL-28A	uc002oku.1	Q8IZJ0		ENST00000331982.5:c.438G>A	19.37:g.39760395G>A			44452235	Q45KQ8|Q6VN55|Q8IWL7	Silent	SNP	NULL	p.T146	ENST00000331982.5	37	c.438	CCDS42567.1	19																																																																																			-	NULL		0.677	IFNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL28A	protein_coding	OTTHUMT00000463833.1	G	NM_172138		44452235	+1	no_errors	NM_172138	genbank	human	reviewed	54_36p	silent	SNP	0.000	A
TP53I11	9537	genome.wustl.edu	37	11	44956512	44956512	+	Silent	SNP	G	G	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr11:44956512G>A	ENST00000533940.1	-	10	1097	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	TP53I11_ENST00000308212.5_Silent_p.L165L|TP53I11_ENST00000525680.1_Silent_p.L165L|TP53I11_ENST00000531130.2_5'Flank|TP53I11_ENST00000395648.3_Silent_p.L165L	NM_001258320.1	NP_001245249.1	O14683	P5I11_HUMAN	tumor protein p53 inducible protein 11	165	Poly-Leu.				negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						CGGCTGACCAGGAGCAGCAGG	0.607																																																0			11											121.0	114.0	116.0					11																	44956512		2203	4299	6502	44913088	SO:0001819	synonymous_variant	9537			AF010315	CCDS7911.1	11p11.2	2005-09-22				ENSG00000175274			16842	protein-coding gene	gene with protein product						9305847	Standard	NM_006034		Approved	PIG11	uc001myk.3	O14683		ENST00000533940.1:c.493C>T	11.37:g.44956512G>A			44913088	Q3ZCS0	Silent	SNP	NULL	p.L165	ENST00000533940.1	37	c.493	CCDS7911.1	11																																																																																			-	NULL		0.607	TP53I11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TP53I11	protein_coding	OTTHUMT00000389909.1	G	NM_006034		44913088	-1	no_errors	NM_001076787	genbank	human	validated	54_36p	silent	SNP	1.000	A
PFKM	5213	genome.wustl.edu	37	12	48535129	48535129	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr12:48535129G>T	ENST00000312352.7	+	15	1416	c.1377G>T	c.(1375-1377)tgG>tgT	p.W459C	PFKM_ENST00000359794.5_Missense_Mutation_p.W459C|PFKM_ENST00000395233.2_Missense_Mutation_p.W428C|PFKM_ENST00000551804.1_Missense_Mutation_p.W428C|PFKM_ENST00000340802.6_Missense_Mutation_p.W530C|PFKM_ENST00000547587.1_Missense_Mutation_p.W459C	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	459	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TTGGGGGCTGGACTGGCCAAG	0.547																																																0			12											100.0	95.0	97.0					12																	48535129		2203	4300	6503	46821396	SO:0001583	missense	5213			M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.1377G>T	12.37:g.48535129G>T	ENSP00000309438:p.Trp459Cys		46821396	J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	HMMPfam_PFK,superfamily_Phosphofructokinase,PatternScan_PHOSPHOFRUCTOKINASE	p.W459C	ENST00000312352.7	37	c.1377	CCDS8760.1	12	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614982	0.87359	.	.	ENSG00000152556	ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352;ENST00000546465	T;T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	5.1	5.1	0.69264	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.92296	0.7556	M	0.92970	3.365	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.986;0.997;0.999	D	0.93623	0.6949	10	0.87932	D	0	-11.0623	18.677	0.91532	0.0:0.0:1.0:0.0	.	428;459;530	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	C	530;459;428;428;459;459;74	ENSP00000345771:W530C;ENSP00000352842:W459C;ENSP00000378656:W428C;ENSP00000448177:W428C;ENSP00000449426:W459C;ENSP00000309438:W459C;ENSP00000446519:W74C	ENSP00000309438:W459C	W	+	3	0	PFKM	46821396	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.825000	0.97269	0.655000	0.94253	TGG	-	HMMPfam_PFK,superfamily_Phosphofructokinase		0.547	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKM	protein_coding	OTTHUMT00000406490.1	G	NM_000289		46821396	+1	no_errors	NM_000289	genbank	human	validated	54_36p	missense	SNP	1.000	T
PRKAG1	5571	genome.wustl.edu	37	12	49398332	49398332	+	Nonsense_Mutation	SNP	G	G	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr12:49398332G>C	ENST00000548065.1	-	8	951	c.495C>G	c.(493-495)taC>taG	p.Y165*	PRKAG1_ENST00000552212.1_Nonsense_Mutation_p.Y133*|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000316299.5_Nonsense_Mutation_p.Y174*|RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000395170.3_Nonsense_Mutation_p.Y81*|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|PRKAG1_ENST00000547306.1_Nonsense_Mutation_p.Y114*			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	165	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of glycolytic process (GO:0006110)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9					Acetylsalicylic acid(DB00945)	GGGTGAGGATGTACAAAGTAT	0.418																																																0			12											283.0	281.0	282.0					12																	49398332		2203	4300	6503	47684599	SO:0001587	stop_gained	5571			U42412	CCDS8777.1, CCDS55824.1, CCDS55825.1	12q12-q14	1998-07-16				ENSG00000181929			9385	protein-coding gene	gene with protein product		602742				8557660, 8621499	Standard	NM_002733		Approved		uc001rsz.3	P54619	OTTHUMG00000170406	ENST00000548065.1:c.495C>G	12.37:g.49398332G>C	ENSP00000447433:p.Tyr165*		47684599	B4DDT7|Q8N7V9	Nonsense_Mutation	SNP	HMMPfam_CBS,HMMSmart_CBS,superfamily_SSF54631	p.Y165*	ENST00000548065.1	37	c.495	CCDS8777.1	12	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943196	0.73672	.	.	ENSG00000181929	ENST00000395170;ENST00000547306;ENST00000316299;ENST00000548065;ENST00000552212;ENST00000548950;ENST00000551121	.	.	.	5.55	1.43	0.22495	.	0.056897	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.1521	13.1464	0.59463	0.2854:0.0:0.7146:0.0	.	.	.	.	X	81;114;174;165;133;81;133	.	ENSP00000323867:Y174X	Y	-	3	2	PRKAG1	47684599	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	1.043000	0.30316	0.164000	0.19529	-1.094000	0.02160	TAC	-	HMMPfam_CBS,superfamily_SSF54631,HMMSmart_CBS		0.418	PRKAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAG1	protein_coding	OTTHUMT00000408946.1	G	NM_002733		47684599	-1	no_errors	NM_002733	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	C
AQP2	359	genome.wustl.edu	37	12	50344953	50344953	+	Missense_Mutation	SNP	G	G	A	rs370232864		TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr12:50344953G>A	ENST00000199280.3	+	1	425	c.340G>A	c.(340-342)Ggg>Agg	p.G114R	RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	114					actin filament depolymerization (GO:0030042)|aging (GO:0007568)|apoptotic process (GO:0006915)|cell volume homeostasis (GO:0006884)|cellular response to copper ion (GO:0071280)|cellular response to mercury ion (GO:0071288)|cellular response to water deprivation (GO:0042631)|excretion (GO:0007588)|female pregnancy (GO:0007565)|glycerol transport (GO:0015793)|hyperosmotic response (GO:0006972)|metanephric collecting duct development (GO:0072205)|positive regulation of calcium ion transport (GO:0051928)|renal water transport (GO:0003097)|response to calcium ion (GO:0051592)|response to glucagon (GO:0033762)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to salt stress (GO:0009651)|response to starvation (GO:0042594)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	glycerol transmembrane transporter activity (GO:0015168)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						AGACATCCGCGGGGACCTGGC	0.627																																																0			12						G	ARG/GLY	2,4398		0,2,2198	17.0	17.0	17.0		340	4.7	0.9	12		17	2,8590		0,2,4294	no	missense	AQP2	NM_000486.5	125	0,4,6492	AA,AG,GG		0.0233,0.0455,0.0308	probably-damaging	114/272	50344953	4,12988	2200	4296	6496	48631220	SO:0001583	missense	359				CCDS8792.1	12q12-q13	2014-09-17				ENSG00000167580		"""Ion channels / Aquaporins"""	634	protein-coding gene	gene with protein product		107777				7512890	Standard	NM_000486		Approved		uc001rvn.3	P41181		ENST00000199280.3:c.340G>A	12.37:g.50344953G>A	ENSP00000199280:p.Gly114Arg		48631220	Q9UD68	Missense_Mutation	SNP	superfamily_MIP,HMMPfam_MIP,PatternScan_MIP	p.G114R	ENST00000199280.3	37	c.340	CCDS8792.1	12	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502516	0.85176	4.55E-4	2.33E-4	ENSG00000167580	ENST00000199280;ENST00000550862	D;D	0.85088	-1.94;-1.94	4.67	4.67	0.58626	Aquaporin-like (2);	0.000000	0.56097	D	0.000034	D	0.92909	0.7744	M	0.87180	2.865	0.58432	D	0.999999	D	0.89917	1.0	D	0.77557	0.99	D	0.94155	0.7409	10	0.87932	D	0	-22.4144	15.4708	0.75439	0.0:0.0:1.0:0.0	.	114	P41181	AQP2_HUMAN	R	114	ENSP00000199280:G114R;ENSP00000450022:G114R	ENSP00000199280:G114R	G	+	1	0	AQP2	48631220	1.000000	0.71417	0.927000	0.36925	0.926000	0.56050	6.423000	0.73361	2.323000	0.78572	0.655000	0.94253	GGG	-	superfamily_MIP,HMMPfam_MIP		0.627	AQP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP2	protein_coding	OTTHUMT00000405540.1	G	NM_000486		48631220	+1	no_errors	NM_000486	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
CEACAM19	56971	genome.wustl.edu	37	19	45184572	45184572	+	Missense_Mutation	SNP	A	A	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr19:45184572A>G	ENST00000403660.3	+	6	990	c.780A>G	c.(778-780)atA>atG	p.I260M	CEACAM19_ENST00000480278.1_3'UTR|CTB-171A8.1_ENST00000590796.1_RNA|CEACAM19_ENST00000358777.4_Missense_Mutation_p.I260M			Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	260						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				CAAGGTCCATAAACCCAGCCC	0.587																																																0			19											91.0	74.0	80.0					19																	45184572		2203	4300	6503	49876412	SO:0001583	missense	56971			AF406955	CCDS12641.1, CCDS46108.1	19q13.31	2013-01-11			ENSG00000186567	ENSG00000186567		"""Immunoglobulin superfamily / V-set domain containing"""	31951	protein-coding gene	gene with protein product		606691					Standard	NM_020219		Approved	CEAL1	uc002ozo.4	Q7Z692	OTTHUMG00000151528	ENST00000403660.3:c.780A>G	19.37:g.45184572A>G	ENSP00000384887:p.Ile260Met		49876412	Q5XJ15|Q7Z693	Missense_Mutation	SNP	superfamily_Immunoglobulin	p.I260M	ENST00000403660.3	37	c.780	CCDS12641.1	19	.	.	.	.	.	.	.	.	.	.	A	3.593	-0.083140	0.07141	.	.	ENSG00000186567	ENST00000358777;ENST00000403660	T;T	0.02421	4.3;4.3	3.22	-0.307	0.12777	.	4.592180	0.00777	N	0.001243	T	0.01695	0.0054	N	0.02916	-0.46	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.42865	-0.9426	10	0.34782	T	0.22	-0.0015	5.3279	0.15917	0.4364:0.0:0.5636:0.0	.	260;260	Q5XJ15;Q7Z692	.;CEA19_HUMAN	M	260	ENSP00000351627:I260M;ENSP00000384887:I260M	ENSP00000351627:I260M	I	+	3	3	CEACAM19	49876412	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.168000	0.09925	-0.083000	0.12618	-0.395000	0.06472	ATA	-	NULL		0.587	CEACAM19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEACAM19	protein_coding	OTTHUMT00000323022.1	A	NM_020219		49876412	+1	no_errors	NM_020219	genbank	human	validated	54_36p	missense	SNP	0.001	G
AGBL4	84871	genome.wustl.edu	37	1	50311400	50311400	+	Intron	SNP	T	T	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr1:50311400T>A	ENST00000371839.1	-	2	274				AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371836.1_Intron|AGBL4_ENST00000497451.1_Intron	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4						C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		TCAGAGGATTTACACGGGAGA	0.557																																																0			1																																								50083987	SO:0001627	intron_variant	0			AK027348	CCDS44137.1	1p33	2014-06-23			ENSG00000186094	ENSG00000186094			25892	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 6"""					21074048	Standard	NM_032785		Approved	FLJ14442, CCP6	uc001cru.2	Q5VU57	OTTHUMG00000007793	ENST00000371839.1:c.157+5667A>T	1.37:g.50311400T>A			50083987	B3KT26|B4DG37	Missense_Mutation	SNP	superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.Y276N	ENST00000371839.1	37	c.826	CCDS44137.1	1																																																																																			-	superfamily_C2H2 and C2HC zinc fingers		0.557	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF859P	protein_coding	OTTHUMT00000021346.4	T	NM_032785		50083987	+1	no_start_codon	ENST00000401053	ensembl	human	known	54_36p	missense	SNP	0.951	A
GEMIN7	79760	genome.wustl.edu	37	19	45593512	45593512	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr19:45593512C>G	ENST00000270257.4	+	3	387	c.140C>G	c.(139-141)gCt>gGt	p.A47G	GEMIN7_ENST00000591607.1_Missense_Mutation_p.A47G|GEMIN7_ENST00000591747.1_Missense_Mutation_p.A47G|GEMIN7_ENST00000391951.2_Missense_Mutation_p.A47G|CTB-179K24.3_ENST00000586744.1_RNA|CTB-179K24.3_ENST00000586556.1_RNA|PPP1R37_ENST00000221462.4_5'Flank|PPP1R37_ENST00000421905.1_5'Flank	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	47					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		TGTCCCATAGCTCAAGAATCC	0.642																																																0			19											46.0	46.0	46.0					19																	45593512		2203	4300	6503	50285352	SO:0001583	missense	79760			AK024018	CCDS12654.1	19q13.32	2008-02-05				ENSG00000142252			20045	protein-coding gene	gene with protein product		607419				12065586	Standard	NM_024707		Approved	FLJ13956	uc002pap.1	Q9H840		ENST00000270257.4:c.140C>G	19.37:g.45593512C>G	ENSP00000270257:p.Ala47Gly		50285352	Q6IA34	Missense_Mutation	SNP	NULL	p.A47G	ENST00000270257.4	37	c.140	CCDS12654.1	19	.	.	.	.	.	.	.	.	.	.	C	10.83	1.462578	0.26248	.	.	ENSG00000142252	ENST00000270257;ENST00000391951	.	.	.	3.77	-7.55	0.01327	.	1.380780	0.04860	N	0.444000	T	0.16685	0.0401	N	0.19112	0.55	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.12785	-1.0534	9	0.23891	T	0.37	-16.5092	2.1523	0.03803	0.1258:0.2632:0.3817:0.2292	.	47	Q9H840	GEMI7_HUMAN	G	47	.	ENSP00000270257:A47G	A	+	2	0	GEMIN7	50285352	0.000000	0.05858	0.000000	0.03702	0.512000	0.34134	-1.261000	0.02855	-1.628000	0.01548	-0.266000	0.10368	GCT	-	NULL		0.642	GEMIN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN7	protein_coding	OTTHUMT00000457533.1	C			50285352	+1	no_errors	NM_001007269	genbank	human	reviewed	54_36p	missense	SNP	0.001	G
ABHD14B	84836	genome.wustl.edu	37	3	52003497	52003497	+	Missense_Mutation	SNP	T	T	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr3:52003497T>C	ENST00000483233.1	-	5	1084	c.578A>G	c.(577-579)gAc>gGc	p.D193G	RP11-155D18.14_ENST00000489595.2_Intron|PCBP4_ENST00000355852.2_5'Flank|PCBP4_ENST00000428823.2_5'Flank|ABHD14B_ENST00000461108.1_3'UTR|ABHD14B_ENST00000361143.5_Missense_Mutation_p.D193G|ABHD14B_ENST00000525795.1_Missense_Mutation_p.D193G|PCBP4_ENST00000484633.1_5'Flank|PCBP4_ENST00000461554.1_5'Flank|ABHD14B_ENST00000487005.1_5'UTR|ABHD14B_ENST00000315877.10_Missense_Mutation_p.D191G|ABHD14B_ENST00000395008.2_Missense_Mutation_p.D193G|PCBP4_ENST00000395013.3_5'Flank|RP11-155D18.12_ENST00000488257.1_RNA			Q96IU4	ABHEB_HUMAN	abhydrolase domain containing 14B	193					metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			large_intestine(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000548)|KIRC - Kidney renal clear cell carcinoma(197;0.00072)		CTCTGGTTTGTCCAGGTAACA	0.642																																																0			3											76.0	80.0	78.0					3																	52003497		2203	4300	6503	51978537	SO:0001583	missense	84836			AK075112	CCDS2842.1	3p21.2	2009-01-12			ENSG00000114779	ENSG00000114779		"""Abhydrolase domain containing"""	28235	protein-coding gene	gene with protein product							Standard	NM_032750		Approved	MGC15429, CIB	uc011bdy.2	Q96IU4	OTTHUMG00000157816	ENST00000483233.1:c.578A>G	3.37:g.52003497T>C	ENSP00000420065:p.Asp193Gly		51978537	Q86VK8|Q8N8W5	Missense_Mutation	SNP	superfamily_alpha/beta-Hydrolases	p.D193G	ENST00000483233.1	37	c.578	CCDS2842.1	3	.	.	.	.	.	.	.	.	.	.	T	28.6	4.936116	0.92458	.	.	ENSG00000114779	ENST00000483233;ENST00000315877;ENST00000395008;ENST00000361143;ENST00000439982;ENST00000525795	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.85279	0.5660	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.98	D	0.88773	0.3265	9	0.87932	D	0	-27.9215	15.1933	0.73063	0.0:0.0:0.0:1.0	.	113;193	B4DKK0;Q96IU4	.;ABHEB_HUMAN	G	193;191;193;193;168;193	.	ENSP00000318248:D191G	D	-	2	0	ABHD14B	51978537	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.776000	0.85560	2.080000	0.62538	0.402000	0.26972	GAC	-	superfamily_alpha/beta-Hydrolases		0.642	ABHD14B-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABHD14B	protein_coding	OTTHUMT00000349673.1	T	NM_032750		51978537	-1	no_errors	NM_032750	genbank	human	provisional	54_36p	missense	SNP	1.000	C
RBL2	5934	genome.wustl.edu	37	16	53513102	53513102	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr16:53513102C>T	ENST00000262133.6	+	18	2877	c.2740C>T	c.(2740-2742)Cgt>Tgt	p.R914C	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	914	Domain B.|Pocket; binds E1A.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GAACATTATGCGTTGTTATAG	0.418																																																0			16											102.0	95.0	97.0					16																	53513102		2198	4300	6498	52070603	SO:0001583	missense	5934			X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.2740C>T	16.37:g.53513102C>T	ENSP00000262133:p.Arg914Cys		52070603	B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	HMMSmart_CYCLIN,HMMPfam_RB_A,superfamily_Cyclin_like,HMMPfam_RB_B	p.R914C	ENST00000262133.6	37	c.2740	CCDS10748.1	16	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193570	0.78902	.	.	ENSG00000103479	ENST00000262133;ENST00000379935	D	0.90844	-2.74	5.05	5.05	0.67936	Retinoblastoma-associated protein, B-box (1);Cyclin-like (3);	0.075723	0.56097	D	0.000030	D	0.91240	0.7239	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.65443	0.935;0.926	D	0.92806	0.6260	10	0.87932	D	0	-11.9754	16.1796	0.81890	0.0:1.0:0.0:0.0	.	624;914	E9PG04;Q08999	.;RBL2_HUMAN	C	914;624	ENSP00000262133:R914C	ENSP00000262133:R914C	R	+	1	0	RBL2	52070603	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.391000	0.66266	2.338000	0.79540	0.650000	0.86243	CGT	-	HMMPfam_RB_B,superfamily_Cyclin_like,HMMSmart_CYCLIN		0.418	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBL2	protein_coding	OTTHUMT00000256908.3	C	NM_005611		52070603	+1	no_errors	NM_005611	genbank	human	validated	54_36p	missense	SNP	1.000	T
PAN2	9924	genome.wustl.edu	37	12	56713505	56713505	+	Missense_Mutation	SNP	T	T	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr12:56713505T>A	ENST00000425394.2	-	22	3378	c.3002A>T	c.(3001-3003)aAa>aTa	p.K1001I	PAN2_ENST00000257931.5_Missense_Mutation_p.K1000I|PAN2_ENST00000549090.1_5'Flank|PAN2_ENST00000548043.1_Missense_Mutation_p.K1001I|PAN2_ENST00000440411.3_Missense_Mutation_p.K997I	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	CTGGCTTGGTTTAATGGTAGA	0.463																																																0			12											197.0	173.0	181.0					12																	56713505		2203	4300	6503	54999772	SO:0001583	missense	9924			AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.3002A>T	12.37:g.56713505T>A	ENSP00000401721:p.Lys1001Ile		54999772		Missense_Mutation	SNP	superfamily_WD40 repeat-like,superfamily_Cysteine proteinases,HMMPfam_UCH,superfamily_Ribonuclease H-like,HMMSmart_SM00479,HMMPfam_Exonuc_X-T	p.K997I	ENST00000425394.2	37	c.2990	CCDS44922.1	12	.	.	.	.	.	.	.	.	.	.	T	27.4	4.831009	0.91036	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	5.66	5.66	0.87406	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.56615	0.1997	M	0.87682	2.9	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.996	D;D;D	0.75020	0.974;0.974;0.985	T	0.64499	-0.6393	10	0.87932	D	0	-13.8957	15.2009	0.73136	0.0:0.0:0.0:1.0	.	1000;997;1001	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	I	1001;997;1000;1001	ENSP00000401721:K1001I;ENSP00000388231:K997I;ENSP00000257931:K1000I;ENSP00000449861:K1001I	ENSP00000257931:K1000I	K	-	2	0	PAN2	54999772	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.961000	0.87903	2.291000	0.77112	0.533000	0.62120	AAA	-	superfamily_Ribonuclease H-like,HMMSmart_SM00479,HMMPfam_Exonuc_X-T		0.463	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN2	protein_coding	OTTHUMT00000409024.1	T	NM_014871		54999772	-1	no_errors	NM_014871	genbank	human	validated	54_36p	missense	SNP	1.000	A
CTAGE16P	341689	genome.wustl.edu	37	13	59105003	59105003	+	IGR	SNP	G	G	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr13:59105003G>C								RNY4P29 (3118 upstream) : RNU7-88P (949200 downstream)																							TTTGCAATGAGAAATGTCTAT	0.507																																																0			13																																								58003004	SO:0001628	intergenic_variant	341689																															13.37:g.59105003G>C			58003004		RNA	SNP	-	NULL		37	NULL		13																																																																																			-	-	0	0.507					LOC341689			G			58003004	+1	no_errors	XR_017487	genbank	human	model	54_36p	rna	SNP	0.999	C
ZNF816	125893	genome.wustl.edu	37	19	53454173	53454173	+	Nonsense_Mutation	SNP	G	G	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr19:53454173G>T	ENST00000357666.4	-	5	1155	c.855C>A	c.(853-855)taC>taA	p.Y285*	ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Nonsense_Mutation_p.Y285*	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	285					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)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						CATTACACTTGTAAGTTTTCT	0.383																																																0			19											151.0	140.0	143.0					19																	53454173		2203	4300	6503	58145985	SO:0001587	stop_gained	125893			BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.855C>A	19.37:g.53454173G>T	ENSP00000350295:p.Tyr285*		58145985	A8K7H5|Q3KR39|Q659B3	Nonsense_Mutation	SNP	superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF48695	p.Y285*	ENST00000357666.4	37	c.855	CCDS33096.1	19	.	.	.	.	.	.	.	.	.	.	-	13.55	2.270366	0.40194	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	.	.	.	1.79	0.704	0.18121	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.4972	0.27496	0.1677:0.0:0.8323:0.0	.	.	.	.	X	285	.	ENSP00000350295:Y285X	Y	-	3	2	ZNF816	58145985	0.000000	0.05858	0.653000	0.29593	0.047000	0.14425	-0.815000	0.04481	0.965000	0.38133	0.205000	0.17691	TAC	-	superfamily_SSF48695,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2		0.383	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF816A	protein_coding	OTTHUMT00000396132.1	G	NM_001031665		58145985	-1	no_errors	NM_001031665	genbank	human	validated	54_36p	nonsense	SNP	0.022	T
ZNF471	57573	genome.wustl.edu	37	19	57036523	57036523	+	Missense_Mutation	SNP	C	C	G	rs201149317		TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr19:57036523C>G	ENST00000308031.5	+	5	1220	c.1087C>G	c.(1087-1089)Cgt>Ggt	p.R363G	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Missense_Mutation_p.F222L	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	363					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)	p.R363C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		ATCTTTTATTCGTCACTGGAG	0.413																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)											1	Substitution - Missense(1)	skin(1)	19											75.0	80.0	78.0					19																	57036523		2203	4300	6503	61728335	SO:0001583	missense	57573			AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.1087C>G	19.37:g.57036523C>G	ENSP00000309161:p.Arg363Gly		61728335	B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.R363G	ENST00000308031.5	37	c.1087	CCDS12945.1	19	.	.	.	.	.	.	.	.	.	.	C	12.03	1.816477	0.32145	.	.	ENSG00000196263	ENST00000308031	T	0.26660	1.72	3.63	-2.85	0.05734	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24624	0.0597	M	0.77406	2.37	0.09310	N	1	D	0.53462	0.96	B	0.42422	0.387	T	0.24693	-1.0153	9	0.31617	T	0.26	.	4.9008	0.13773	0.0:0.3576:0.1591:0.4833	.	363	Q9BX82	ZN471_HUMAN	G	363	ENSP00000309161:R363G	ENSP00000309161:R363G	R	+	1	0	ZNF471	61728335	0.000000	0.05858	0.001000	0.08648	0.971000	0.66376	-1.745000	0.01831	-0.124000	0.11724	0.462000	0.41574	CGT	-	superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1		0.413	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF471	protein_coding	OTTHUMT00000458405.1	C	NM_020813		61728335	+1	no_errors	NM_020813	genbank	human	validated	54_36p	missense	SNP	0.000	G
INADL	10207	genome.wustl.edu	37	1	62271127	62271127	+	Silent	SNP	C	C	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr1:62271127C>G	ENST00000371158.2	+	13	1671	c.1557C>G	c.(1555-1557)gtC>gtG	p.V519V	INADL_ENST00000316485.6_Silent_p.V519V	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	519					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CAGAAAAAGTCCCAGACTCTC	0.363																																																0			1											79.0	85.0	83.0					1																	62271127		2203	4300	6503	62043715	SO:0001819	synonymous_variant	10207			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.1557C>G	1.37:g.62271127C>G			62043715	O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Silent	SNP	HMMPfam_L27_2,HMMSmart_SM00569,superfamily_L27 domain,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228	p.V519	ENST00000371158.2	37	c.1557	CCDS617.2	1																																																																																			-	NULL		0.363	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INADL	protein_coding	OTTHUMT00000023639.2	C	NM_170605		62043715	+1	no_errors	NM_176877	genbank	human	reviewed	54_36p	silent	SNP	0.001	G
IGDCC3	9543	genome.wustl.edu	37	15	65623543	65623543	+	Missense_Mutation	SNP	T	T	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr15:65623543T>C	ENST00000327987.4	-	9	1657	c.1406A>G	c.(1405-1407)gAg>gGg	p.E469G	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	469	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ATACTCCAGCTCCGGTGGGTC	0.617											OREG0007241	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=PUNC|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																																				0			15											120.0	120.0	120.0					15																	65623543		2201	4299	6500	63410596	SO:0001583	missense	9543			AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.1406A>G	15.37:g.65623543T>C	ENSP00000332773:p.Glu469Gly	1085	63410596	O95215	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3	p.E469G	ENST00000327987.4	37	c.1406	CCDS10205.1	15	.	.	.	.	.	.	.	.	.	.	T	9.123	1.009510	0.19277	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.57907	0.37	5.17	5.17	0.71159	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.215444	0.42294	D	0.000726	T	0.31979	0.0814	N	0.04148	-0.265	0.42570	D	0.993173	B	0.09022	0.002	B	0.12156	0.007	T	0.11494	-1.0585	10	0.30854	T	0.27	-18.7394	15.0317	0.71713	0.0:0.0:0.0:1.0	.	469	Q8IVU1	IGDC3_HUMAN	G	469;332	ENSP00000332773:E469G	ENSP00000332773:E469G	E	-	2	0	IGDCC3	63410596	0.998000	0.40836	0.692000	0.30179	0.123000	0.20343	5.130000	0.64745	1.937000	0.56155	0.533000	0.62120	GAG	-	superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3		0.617	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGDCC3	protein_coding	OTTHUMT00000256826.1	T	NM_004884		63410596	-1	no_errors	NM_004884	genbank	human	validated	54_36p	missense	SNP	0.989	C
PLCB3	5331	genome.wustl.edu	37	11	64034924	64034924	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr11:64034924G>T	ENST00000540288.1	+	31	3704	c.3601G>T	c.(3601-3603)Gac>Tac	p.D1201Y	PLCB3_ENST00000325234.5_Missense_Mutation_p.D1134Y|PLCB3_ENST00000279230.6_Missense_Mutation_p.D1201Y	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1201					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GGGGCTGGGGGACGGGCCTCT	0.726																																																0			11											5.0	6.0	6.0					11																	64034924		2107	4112	6219	63791500	SO:0001583	missense	5331			Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.3601G>T	11.37:g.64034924G>T	ENSP00000443631:p.Asp1201Tyr		63791500	A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	superfamily_EF-hand,HMMPfam_efhand_like,HMMSmart_SM00148,HMMPfam_PI-PLC-X,superfamily_PLC-like phosphodiesterases,HMMPfam_PI-PLC-Y,HMMSmart_SM00149,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,HMMPfam_PLC-beta_C	p.D1201Y	ENST00000540288.1	37	c.3601	CCDS8064.1	11	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963459	0.53507	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.23147	2.05;2.05;1.92	4.21	4.21	0.49690	.	0.734974	0.13046	N	0.418144	T	0.37348	0.1000	L	0.36672	1.1	0.34792	D	0.735806	P;D	0.62365	0.815;0.991	B;D	0.63381	0.246;0.914	T	0.45131	-0.9282	10	0.66056	D	0.02	.	11.1537	0.48476	0.0:0.0:0.8155:0.1845	.	1134;1201	G5E960;Q01970	.;PLCB3_HUMAN	Y	1201;1201;1134	ENSP00000279230:D1201Y;ENSP00000443631:D1201Y;ENSP00000324660:D1134Y	ENSP00000279230:D1201Y	D	+	1	0	PLCB3	63791500	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	2.345000	0.44018	2.354000	0.79902	0.561000	0.74099	GAC	-	HMMPfam_PLC-beta_C		0.726	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	PLCB3	protein_coding	OTTHUMT00000396405.1	G			63791500	+1	no_errors	NM_000932	genbank	human	provisional	54_36p	missense	SNP	0.981	T
CDH5	1003	genome.wustl.edu	37	16	66436859	66436859	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr16:66436859C>G	ENST00000341529.3	+	12	2290	c.2142C>G	c.(2140-2142)gaC>gaG	p.D714E	CDH5_ENST00000539168.1_Missense_Mutation_p.D153E	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	714					adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	TGAAGAAGGACGAGGCGGACC	0.682																																																0			16											44.0	40.0	42.0					16																	66436859		2201	4300	6501	64994360	SO:0001583	missense	1003			X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.2142C>G	16.37:g.66436859C>G	ENSP00000344115:p.Asp714Glu		64994360	Q4VAI5|Q4VAI6	Missense_Mutation	SNP	superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C	p.D714E	ENST00000341529.3	37	c.2142	CCDS10804.1	16	.	.	.	.	.	.	.	.	.	.	C	14.25	2.480541	0.44044	.	.	ENSG00000179776	ENST00000341529;ENST00000379531;ENST00000539262;ENST00000539168	T;T	0.75704	-0.96;-0.96	5.32	-0.377	0.12501	Cadherin, cytoplasmic domain (1);	.	.	.	.	T	0.55784	0.1942	L	0.28608	0.87	0.45415	D	0.998396	P	0.35107	0.484	B	0.39971	0.315	T	0.40813	-0.9543	9	0.15066	T	0.55	.	1.6519	0.02773	0.1349:0.4478:0.124:0.2933	.	714	P33151	CADH5_HUMAN	E	714;599;455;153	ENSP00000344115:D714E;ENSP00000461880:D153E	ENSP00000344115:D714E	D	+	3	2	CDH5	64994360	0.286000	0.24305	0.997000	0.53966	0.972000	0.66771	-0.462000	0.06704	-0.035000	0.13691	0.462000	0.41574	GAC	-	HMMPfam_Cadherin_C		0.682	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH5	protein_coding	OTTHUMT00000268767.1	C	NM_001795		64994360	+1	no_errors	NM_001795	genbank	human	reviewed	54_36p	missense	SNP	0.995	G
E2F4	1874	genome.wustl.edu	37	16	67226979	67226979	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr16:67226979G>A	ENST00000379378.3	+	3	372	c.313G>A	c.(313-315)Gag>Aag	p.E105K	EXOC3L1_ENST00000562887.1_5'Flank|E2F4_ENST00000564718.1_3'UTR|EXOC3L1_ENST00000314586.6_5'Flank	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	105	Dimerization. {ECO:0000255}.				blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		GGCAGAGATCGAGGAGCTGCA	0.597																																																0			16											39.0	32.0	35.0					16																	67226979		2191	4292	6483	65784480	SO:0001583	missense	1874			BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975	ENST00000379378.3:c.313G>A	16.37:g.67226979G>A	ENSP00000368686:p.Glu105Lys		65784480	A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	superfamily_SSF46785,HMMPfam_E2F_TDP	p.E105K	ENST00000379378.3	37	c.313	CCDS32464.1	16	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168135	0.78339	.	.	ENSG00000205250	ENST00000379378	D	0.86097	-2.07	4.43	4.43	0.53597	.	0.126669	0.56097	D	0.000036	T	0.79052	0.4381	L	0.43701	1.375	0.53005	D	0.999966	P	0.49253	0.921	B	0.37601	0.254	T	0.81792	-0.0770	10	0.46703	T	0.11	-16.6767	15.7776	0.78236	0.0:0.0:1.0:0.0	.	105	Q16254	E2F4_HUMAN	K	105	ENSP00000368686:E105K	ENSP00000368686:E105K	E	+	1	0	E2F4	65784480	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.475000	0.66787	2.299000	0.77371	0.467000	0.42956	GAG	-	NULL		0.597	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	E2F4	protein_coding	OTTHUMT00000421565.1	G	NM_001950		65784480	+1	no_errors	NM_001950	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
KLC2	64837	genome.wustl.edu	37	11	66033414	66033414	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr11:66033414G>A	ENST00000417856.1	+	13	1776	c.1533G>A	c.(1531-1533)atG>atA	p.M511I	KLC2_ENST00000394078.1_Intron|KLC2_ENST00000394066.2_Missense_Mutation_p.M434I|RP11-867G23.2_ENST00000533287.1_RNA|RAB1B_ENST00000311481.6_5'Flank|KLC2_ENST00000316924.5_Missense_Mutation_p.M511I|RP11-867G23.1_ENST00000530805.1_RNA|KLC2_ENST00000394065.2_Missense_Mutation_p.M372I|KLC2_ENST00000421552.1_Missense_Mutation_p.M434I|RAB1B_ENST00000527397.1_5'Flank|KLC2_ENST00000394067.2_Missense_Mutation_p.M511I	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	511					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GCCGAGACATGGCTGGGGGTG	0.677																																																0			11											31.0	38.0	35.0					11																	66033414		2193	4284	6477	65789990	SO:0001583	missense	64837			AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"""Tetratricopeptide (TTC) repeat domain containing"""	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.1533G>A	11.37:g.66033414G>A	ENSP00000399403:p.Met511Ile		65789990	A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Missense_Mutation	SNP	HMMPfam_Rab5-bind,superfamily_SSF48452,PatternScan_KINESIN_LIGHT,HMMPfam_TPR_1,HMMSmart_TPR	p.M511I	ENST00000417856.1	37	c.1533	CCDS8130.1	11	.	.	.	.	.	.	.	.	.	.	G	2.378	-0.342841	0.05243	.	.	ENSG00000174996	ENST00000417856;ENST00000394067;ENST00000316924;ENST00000421552;ENST00000394066;ENST00000394065	T;T;T;T;T;D	0.82433	-0.98;-0.98;-0.98;-0.98;-0.98;-1.61	3.71	-0.711	0.11230	.	0.442134	0.18896	N	0.128166	T	0.59128	0.2171	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.47169	-0.9138	10	0.40728	T	0.16	-0.7477	2.9957	0.05997	0.0998:0.1447:0.462:0.2935	.	372;434;511	A8MZ87;A8MXL7;Q9H0B6	.;.;KLC2_HUMAN	I	511;511;511;434;434;372	ENSP00000399403:M511I;ENSP00000377631:M511I;ENSP00000314837:M511I;ENSP00000408484:M434I;ENSP00000377630:M434I;ENSP00000377629:M372I	ENSP00000314837:M511I	M	+	3	0	KLC2	65789990	0.000000	0.05858	0.001000	0.08648	0.416000	0.31233	-0.131000	0.10482	0.248000	0.21435	0.491000	0.48974	ATG	-	NULL		0.677	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KLC2	protein_coding	OTTHUMT00000258200.1	G	NM_022822		65789990	+1	no_errors	NM_022822	genbank	human	validated	54_36p	missense	SNP	0.001	A
Unknown	0	genome.wustl.edu	37	8	70042169	70042169	+	IGR	SNP	A	A	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr8:70042169A>G								RNU7-102P (19360 upstream) : RP11-21C17.1 (45644 downstream)																							AAAGAGGCCAAGCACATTGCG	0.522																																																0			8																																								70204723	SO:0001628	intergenic_variant	0																															8.37:g.70042169A>G			70204723		RNA	SNP	-	NULL		37	NULL		8																																																																																			-	-	0	0.522					LOC100129096			A			70204723	+1	pseudogene	XR_037300	genbank	human	model	54_36p	rna	SNP	1.000	G
TPH2	121278	genome.wustl.edu	37	12	72366384	72366384	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr12:72366384C>G	ENST00000333850.3	+	6	835	c.694C>G	c.(694-696)Ccc>Gcc	p.P232A		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	232					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CAAACTCTATCCCACTCATGC	0.473																																																0			12											278.0	287.0	284.0					12																	72366384		2203	4300	6503	70652651	SO:0001583	missense	121278			AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.694C>G	12.37:g.72366384C>G	ENSP00000329093:p.Pro232Ala		70652651	A6NGA4|Q14CB0	Missense_Mutation	SNP	superfamily_SSF55021,HMMPfam_ACT,superfamily_Aaa_hydroxylase,HMMPfam_Biopterin_H,PatternScan_BIOPTERIN_HYDROXYL	p.P232A	ENST00000333850.3	37	c.694	CCDS31859.1	12	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609905	0.66558	.	.	ENSG00000139287	ENST00000333850	D	0.99563	-6.17	5.48	5.48	0.80851	Aromatic amino acid hydroxylase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99180	0.9716	M	0.81112	2.525	0.80722	D	1	B	0.31680	0.335	B	0.36335	0.222	D	0.99956	1.1639	10	0.38643	T	0.18	-17.152	19.3506	0.94384	0.0:1.0:0.0:0.0	.	232	Q8IWU9	TPH2_HUMAN	A	232	ENSP00000329093:P232A	ENSP00000329093:P232A	P	+	1	0	TPH2	70652651	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.814000	0.86154	2.566000	0.86566	0.462000	0.41574	CCC	-	superfamily_Aaa_hydroxylase,HMMPfam_Biopterin_H		0.473	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPH2	protein_coding	OTTHUMT00000405234.1	C	NM_173353		70652651	+1	no_errors	NM_173353	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
ATG16L2	89849	genome.wustl.edu	37	11	72527857	72527857	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr11:72527857C>T	ENST00000321297.5	+	2	341	c.203C>T	c.(202-204)aCc>aTc	p.T68I	ATG16L2_ENST00000451353.2_3'UTR|ATG16L2_ENST00000534905.1_Missense_Mutation_p.T68I	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	68					autophagy (GO:0006914)|negative stranded viral RNA replication (GO:0039689)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			ACTCCCACCACCCACCAGGGC	0.587																																																0			11											72.0	65.0	67.0					11																	72527857		2200	4293	6493	72205505	SO:0001583	missense	89849			AK024423	CCDS31634.1	11q13.4	2014-02-12	2012-06-06		ENSG00000168010	ENSG00000168010		"""WD repeat domain containing"""	25464	protein-coding gene	gene with protein product			"""ATG16 autophagy related 16-like 2 (S. cerevisiae)"""			11214971	Standard	XM_005274378		Approved	FLJ00012, WDR80, ATG16B	uc001otd.3	Q8NAA4	OTTHUMG00000167961	ENST00000321297.5:c.203C>T	11.37:g.72527857C>T	ENSP00000326340:p.Thr68Ile		72205505	A5PL30|B2RPK5|Q658V4|Q6PID3|Q8NBG0	Missense_Mutation	SNP	HMMPfam_ATG16,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1	p.T68I	ENST00000321297.5	37	c.203	CCDS31634.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.294|6.294	0.422286|0.422286	0.11928|0.11928	.|.	.|.	ENSG00000168010|ENSG00000168010	ENST00000540567|ENST00000321297;ENST00000534905	.|T;T	.|0.51325	.|0.71;0.71	4.0|4.0	-1.32|-1.32	0.09201|0.09201	.|Autophagy-related protein 16 (1);	.|1.394770	.|0.05236	.|N	.|0.511296	T|T	0.36524|0.36524	0.0970|0.0970	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.30482	.|0.194;0.281;0.022;0.178	.|B;B;B;B	.|0.30105	.|0.064;0.111;0.037;0.054	T|T	0.25502|0.25502	-1.0130|-1.0130	5|10	.|0.38643	.|T	.|0.18	.|.	4.1627|4.1627	0.10291|0.10291	0.0:0.3942:0.174:0.4319|0.0:0.3942:0.174:0.4319	.|.	.|68;68;68;67	.|B4E090;F5GWZ9;Q8NAA4;Q2VPK0	.|.;.;A16L2_HUMAN;.	S|I	73|68	.|ENSP00000326340:T68I;ENSP00000441189:T68I	.|ENSP00000326340:T68I	P|T	+|+	1|2	0|0	ATG16L2|ATG16L2	72205505|72205505	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.701000|0.701000	0.40568|0.40568	-0.569000|-0.569000	0.05902|0.05902	-0.241000|-0.241000	0.09681|0.09681	0.561000|0.561000	0.74099|0.74099	CCC|ACC	-	HMMPfam_ATG16		0.587	ATG16L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG16L2	protein_coding	OTTHUMT00000397305.1	C	NM_033388		72205505	+1	no_errors	NM_033388	genbank	human	validated	54_36p	missense	SNP	0.000	T
MFSD11	79157	genome.wustl.edu	37	17	74774279	74774279	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr17:74774279G>A	ENST00000588460.1	+	13	3237	c.1195G>A	c.(1195-1197)Gca>Aca	p.A399T	MFSD11_ENST00000355954.3_Missense_Mutation_p.A347T|MFSD11_ENST00000586622.1_Missense_Mutation_p.A399T|MFSD11_ENST00000336509.4_Missense_Mutation_p.A399T|MFSD11_ENST00000590514.1_Missense_Mutation_p.A399T|MFSD11_ENST00000590070.1_3'UTR|MFSD11_ENST00000593181.1_Missense_Mutation_p.A347T	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	399						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						GTCTATTTGCGCAGCCGTGGC	0.493																																																0			17											163.0	148.0	153.0					17																	74774279		2203	4300	6503	72285874	SO:0001583	missense	79157			BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.1195G>A	17.37:g.74774279G>A	ENSP00000464932:p.Ala399Thr		72285874	O43442|Q9NXI5	Missense_Mutation	SNP	superfamily_MFS general substrate transporter,HMMPfam_DUF895	p.A399T	ENST00000588460.1	37	c.1195	CCDS11750.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.093075	0.97276	.	.	ENSG00000092931	ENST00000336509;ENST00000355954	D;D	0.81739	-1.53;-1.53	6.07	6.07	0.98685	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.88570	0.6472	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.985	D	0.86531	0.1822	10	0.44086	T	0.13	-20.4795	20.2544	0.98414	0.0:0.0:1.0:0.0	.	347;399	O43934-2;O43934	.;MFS11_HUMAN	T	399;347	ENSP00000337240:A399T;ENSP00000348225:A347T	ENSP00000337240:A399T	A	+	1	0	MFSD11	72285874	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.731000	0.98807	2.885000	0.99019	0.655000	0.94253	GCA	-	superfamily_MFS general substrate transporter		0.493	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MFSD11	protein_coding	OTTHUMT00000451516.1	G	NM_024311		72285874	+1	no_errors	NM_024311	genbank	human	provisional	54_36p	missense	SNP	1.000	A
CYP1A2	1544	genome.wustl.edu	37	15	75042402	75042402	+	Missense_Mutation	SNP	G	G	A	rs376179316		TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr15:75042402G>A	ENST00000343932.4	+	2	386	c.323G>A	c.(322-324)cGg>cAg	p.R108Q		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	108					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	TTCAAGGGCCGGCCTGACCTC	0.677																																																0			15						G	GLN/ARG	0,4394		0,0,2197	54.0	50.0	51.0		323	4.8	1.0	15		51	1,8589	1.2+/-3.3	0,1,4294	no	missense	CYP1A2	NM_000761.3	43	0,1,6491	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	108/517	75042402	1,12983	2197	4295	6492	72829455	SO:0001583	missense	1544			AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.323G>A	15.37:g.75042402G>A	ENSP00000342007:p.Arg108Gln		72829455	Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450	p.R108Q	ENST00000343932.4	37	c.323	CCDS32293.1	15	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865895	0.91511	0.0	1.16E-4	ENSG00000140505	ENST00000343932	D	0.82984	-1.67	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.95319	0.8481	H	0.99286	4.5	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97559	1.0097	10	0.87932	D	0	.	18.1026	0.89510	0.0:0.0:1.0:0.0	.	108	P05177-2	.	Q	108	ENSP00000342007:R108Q	ENSP00000342007:R108Q	R	+	2	0	CYP1A2	72829455	1.000000	0.71417	1.000000	0.80357	0.557000	0.35523	9.325000	0.96381	2.499000	0.84300	0.561000	0.74099	CGG	-	HMMPfam_p450,superfamily_Cytochrome_P450		0.677	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP1A2	protein_coding	OTTHUMT00000421263.2	G	NM_000761		72829455	+1	no_errors	NM_000761	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
POLD3	10714	genome.wustl.edu	37	11	74303709	74303709	+	Silent	SNP	G	G	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr11:74303709G>A	ENST00000263681.2	+	1	135	c.6G>A	c.(4-6)gcG>gcA	p.A2A	POLD3_ENST00000532497.1_5'UTR|POLD3_ENST00000527458.1_5'UTR|POLD3_ENST00000532784.1_3'UTR	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	2					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					GCACCATGGCGGACCAGCTTT	0.617																																																0			11											24.0	25.0	25.0					11																	74303709		2200	4293	6493	73981357	SO:0001819	synonymous_variant	10714			D26018	CCDS8233.1	11q14	2014-06-13			ENSG00000077514	ENSG00000077514		"""DNA polymerases"""	20932	protein-coding gene	gene with protein product	"""DNA polymerase delta subunit p66"", ""Pol delta C subunit (p66)"", ""protein phosphatase 1, regulatory subunit 128"""	611415				10219083	Standard	NM_006591		Approved	P66, KIAA0039, P68, PPP1R128	uc001ovf.2	Q15054	OTTHUMG00000165621	ENST00000263681.2:c.6G>A	11.37:g.74303709G>A			73981357	B7ZAI6|Q32MZ9|Q32N00	Silent	SNP	HMMPfam_CDC27	p.A2	ENST00000263681.2	37	c.6	CCDS8233.1	11																																																																																			-	NULL		0.617	POLD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLD3	protein_coding	OTTHUMT00000385376.1	G	NM_006591		73981357	+1	no_errors	NM_006591	genbank	human	validated	54_36p	silent	SNP	1.000	A
LGALS3BP	3959	genome.wustl.edu	37	17	76967999	76967999	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr17:76967999C>T	ENST00000262776.3	-	6	1725	c.1417G>A	c.(1417-1419)Gac>Aac	p.D473N	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	473					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			ACCCTCTTGTCCTGGAAGAGG	0.567											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(89;1105 1755 18102 21513)											0			17											71.0	62.0	65.0					17																	76967999		2203	4300	6503	74479594	SO:0001583	missense	3959			L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"""BTB/POZ domain containing"", ""Endogenous ligands"""	6564	protein-coding gene	gene with protein product	"""L3 antigen"", ""Mac-2-binding protein"", ""serum protein 90K"", ""transport and golgi organization 10 homolog B (Drosophila)"""	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.1417G>A	17.37:g.76967999C>T	ENSP00000262776:p.Asp473Asn	1172	74479594	Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Missense_Mutation	SNP	superfamily_Srcr_receptor,HMMSmart_SR,HMMPfam_SRCR,PatternScan_SRCR_1,HMMPfam_BACK	p.D473N	ENST00000262776.3	37	c.1417	CCDS11759.1	17	.	.	.	.	.	.	.	.	.	.	C	8.760	0.923261	0.18056	.	.	ENSG00000108679	ENST00000262776;ENST00000536190	T	0.01438	4.89	3.25	-1.47	0.08772	.	0.907418	0.09081	N	0.851266	T	0.01287	0.0042	L	0.35854	1.095	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47249	-0.9132	10	0.38643	T	0.18	-5.9578	2.6756	0.05080	0.2126:0.3713:0.0:0.4161	.	473	Q08380	LG3BP_HUMAN	N	473;461	ENSP00000262776:D473N	ENSP00000262776:D473N	D	-	1	0	LGALS3BP	74479594	0.000000	0.05858	0.001000	0.08648	0.945000	0.59286	-0.462000	0.06704	-0.242000	0.09667	0.561000	0.74099	GAC	-	NULL		0.567	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS3BP	protein_coding	OTTHUMT00000437785.3	C	NM_005567		74479594	-1	no_errors	NM_005567	genbank	human	reviewed	54_36p	missense	SNP	0.236	T
PPBP	5473	genome.wustl.edu	37	4	74853710	74853710	+	Silent	SNP	G	G	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr4:74853710G>C	ENST00000296028.3	-	1	204	c.111C>G	c.(109-111)acC>acG	p.T37T		NM_002704.3	NP_002695.1	P02775	CXCL7_HUMAN	pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)	37					blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|defense response to bacterium (GO:0042742)|glucose transport (GO:0015758)|immune response (GO:0006955)|leukocyte migration involved in inflammatory response (GO:0002523)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell division (GO:0051781)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)	glucose transmembrane transporter activity (GO:0005355)			breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			TTTGTCCTTTGGTGGAGGAAG	0.522																																																0			4											136.0	125.0	129.0					4																	74853710		2203	4300	6503	75072574	SO:0001819	synonymous_variant	5473			M54995	CCDS3563.1	4q12-q13	2013-02-25	2002-08-22		ENSG00000163736	ENSG00000163736		"""Endogenous ligands"""	9240	protein-coding gene	gene with protein product	"""platelet basic protein"", ""beta-thromboglobulin"", ""connective tissue-activating peptide III"", ""neutrophil-activating peptide-2"""	121010		THBGB1		1826003	Standard	NM_002704		Approved	SCYB7, TGB, NAP-2-L1, LA-PF4, MDGF, LDGF, Beta-TG, CTAP3, CXCL7, PBP, b-TG1, TGB1, CTAPIII, NAP-2	uc003hhj.3	P02775	OTTHUMG00000130008	ENST00000296028.3:c.111C>G	4.37:g.74853710G>C			75072574	B2R5F3|Q6IBJ8	Silent	SNP	HMMPfam_IL8,superfamily_Interleukin 8-like chemokines,HMMSmart_SM00199,PatternScan_SMALL_CYTOKINES_CXC	p.T37	ENST00000296028.3	37	c.111	CCDS3563.1	4																																																																																			-	NULL		0.522	PPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPBP	protein_coding	OTTHUMT00000252281.2	G	NM_002704		75072574	-1	no_errors	NM_002704	genbank	human	reviewed	54_36p	silent	SNP	0.000	C
RASGRF1	5923	genome.wustl.edu	37	15	79304860	79304860	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr15:79304860C>A	ENST00000419573.3	-	14	2110	c.1836G>T	c.(1834-1836)agG>agT	p.R612S	RASGRF1_ENST00000560334.1_Intron|RASGRF1_ENST00000558480.2_Intron	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	612					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						tggtcccCTCCCTGGTCCTCC	0.458																																																0			15											100.0	89.0	93.0					15																	79304860		2196	4293	6489	77091915	SO:0001583	missense	5923			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1836G>T	15.37:g.79304860C>A	ENSP00000405963:p.Arg612Ser		77091915	F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_IQ,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1,superfamily_Ras GEF,HMMSmart_SM00229,HMMPfam_RasGEF_N,HMMSmart_SM00147,HMMPfam_RasGEF,PatternScan_RASGEF	p.R612S	ENST00000419573.3	37	c.1836	CCDS10309.1	15	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.977649	0.00452	.	.	ENSG00000058335	ENST00000419573	T	0.57907	0.37	0.779	-1.56	0.08532	.	5.504280	0.01098	N	0.005315	T	0.29817	0.0745	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09751	-1.0660	10	0.15952	T	0.53	.	5.3263	0.15908	0.3638:0.6362:0.0:0.0	.	612	Q13972	RGRF1_HUMAN	S	612	ENSP00000405963:R612S	ENSP00000405963:R612S	R	-	3	2	RASGRF1	77091915	0.001000	0.12720	0.001000	0.08648	0.292000	0.27327	-1.334000	0.02665	-1.149000	0.02843	-1.206000	0.01644	AGG	-	NULL		0.458	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	protein_coding	OTTHUMT00000291371.3	C	NM_002891		77091915	-1	no_errors	NM_002891	genbank	human	reviewed	54_36p	missense	SNP	0.004	A
CDYL2	124359	genome.wustl.edu	37	16	80654773	80654773	+	Silent	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr16:80654773C>T	ENST00000570137.2	-	4	1049	c.894G>A	c.(892-894)ctG>ctA	p.L298L	CDYL2_ENST00000562812.1_Silent_p.L299L|CDYL2_ENST00000566173.1_Silent_p.L299L|CDYL2_ENST00000563890.1_Silent_p.L299L	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	298						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CGCTGAGGAGCAGCAGTTTGC	0.562																																																0			16											59.0	54.0	56.0					16																	80654773		2203	4300	6503	79212274	SO:0001819	synonymous_variant	124359			AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"""chromodomain Y-like protein 2"""			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.894G>A	16.37:g.80654773C>T			79212274	Q7Z5I8	Silent	SNP	superfamily_Chromodomain-like,HMMSmart_CHROMO,HMMPfam_Chromo,PatternScan_CHROMO_1,superfamily_SSF52096,HMMPfam_ECH	p.L298	ENST00000570137.2	37	c.894	CCDS32493.1	16																																																																																			-	superfamily_SSF52096,HMMPfam_ECH		0.562	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDYL2	protein_coding	OTTHUMT00000434727.2	C	NM_152342		79212274	-1	no_errors	NM_152342	genbank	human	validated	54_36p	silent	SNP	1.000	T
ZC2HC1A	51101	genome.wustl.edu	37	8	79578437	79578437	+	Intron	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr8:79578437C>T	ENST00000263849.4	+	1	118				ZC2HC1A_ENST00000521176.1_Intron	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A								metal ion binding (GO:0046872)										ACGGCTAGAGCGGGCCCGAAA	0.701																																																0			8											101.0	76.0	84.0					8																	79578437		2182	4274	6456	79740992	SO:0001627	intron_variant	728967				CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"""Zinc fingers, C2HC-type containing"""	24277	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 70"", ""family with sequence similarity 164, member A"""	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.16+38C>T	8.37:g.79578437C>T			79740992	Q9Y372	Silent	SNP	NULL	p.P111	ENST00000263849.4	37	c.333	CCDS6223.1	8																																																																																			-	NULL		0.701	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC728967	protein_coding	OTTHUMT00000379423.2	C	NM_016010		79740992	-1	no_errors	XM_001129977	genbank	human	model	54_36p	silent	SNP	0.001	T
CD36	948	genome.wustl.edu	37	7	80300301	80300301	+	Missense_Mutation	SNP	A	A	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr7:80300301A>G	ENST00000435819.1	+	13	1511	c.827A>G	c.(826-828)tAt>tGt	p.Y276C	CD36_ENST00000432207.1_Missense_Mutation_p.Y276C|CD36_ENST00000538969.1_Missense_Mutation_p.Y216C|CD36_ENST00000394788.3_Missense_Mutation_p.Y276C|CD36_ENST00000544133.1_Intron|CD36_ENST00000447544.2_Missense_Mutation_p.Y276C|CD36_ENST00000309881.7_Missense_Mutation_p.Y276C|CD36_ENST00000433696.2_Missense_Mutation_p.Y237C|CD36_ENST00000534394.1_Missense_Mutation_p.Y200C			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	276					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						AGGTCAATCTATGCTGTATTT	0.373																																																0			7											163.0	169.0	167.0					7																	80300301		2203	4300	6503	80138237	SO:0001583	missense	948			Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"""CD molecules"""	1663	protein-coding gene	gene with protein product		173510	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)"""			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.827A>G	7.37:g.80300301A>G	ENSP00000399421:p.Tyr276Cys		80138237	D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Missense_Mutation	SNP	HMMPfam_CD36	p.Y276C	ENST00000435819.1	37	c.827	CCDS34673.1	7	.	.	.	.	.	.	.	.	.	.	A	18.12	3.552064	0.65311	.	.	ENSG00000135218	ENST00000435819;ENST00000309881;ENST00000534394;ENST00000394788;ENST00000447544;ENST00000432207;ENST00000419819;ENST00000538969;ENST00000433696	T;T;T;T;T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64	5.85	4.71	0.59529	.	0.059601	0.64402	D	0.000001	D	0.85583	0.5730	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86984	0.2106	9	.	.	.	-12.5485	11.1854	0.48653	0.9282:0.0:0.0718:0.0	.	276	P16671	CD36_HUMAN	C	276;276;200;276;276;276;276;216;237	ENSP00000399421:Y276C;ENSP00000308165:Y276C;ENSP00000431296:Y200C;ENSP00000378268:Y276C;ENSP00000415743:Y276C;ENSP00000411411:Y276C;ENSP00000392298:Y276C;ENSP00000439543:Y216C;ENSP00000401863:Y237C	.	Y	+	2	0	CD36	80138237	1.000000	0.71417	0.974000	0.42286	0.968000	0.65278	5.023000	0.64084	1.064000	0.40671	0.477000	0.44152	TAT	-	HMMPfam_CD36		0.373	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD36	protein_coding	OTTHUMT00000339767.6	A	NM_001001547		80138237	+1	no_errors	NM_000072	genbank	human	reviewed	54_36p	missense	SNP	0.977	G
HELQ	113510	genome.wustl.edu	37	4	84374423	84374423	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr4:84374423C>G	ENST00000295488.3	-	2	1135	c.973G>C	c.(973-975)Gac>Cac	p.D325H	MRPS18C_ENST00000507019.1_5'Flank|HELQ_ENST00000440639.2_5'Flank|MRPS18C_ENST00000295491.4_5'Flank|MRPS18C_ENST00000507349.1_5'Flank|HELQ_ENST00000510985.1_Missense_Mutation_p.D325H	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	325					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						GCATAAAGGTCTCTCACTTTG	0.323								Other identified genes with known or suspected DNA repair function																																								0			4											63.0	67.0	66.0					4																	84374423		2203	4300	6503	84593447	SO:0001583	missense	113510			AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.973G>C	4.37:g.84374423C>G	ENSP00000295488:p.Asp325His		84593447	Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,HMMSmart_SM00490,HMMPfam_Helicase_C	p.D325H	ENST00000295488.3	37	c.973	CCDS3603.1	4	.	.	.	.	.	.	.	.	.	.	C	15.32	2.800031	0.50208	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.60672	0.17;0.17	5.92	5.92	0.95590	.	0.105146	0.64402	D	0.000007	T	0.65729	0.2719	L	0.41824	1.3	0.28235	N	0.925932	P;B;D;B	0.71674	0.482;0.353;0.998;0.124	B;B;P;B	0.59487	0.11;0.152;0.858;0.033	T	0.61103	-0.7130	10	0.44086	T	0.13	-39.9316	17.2641	0.87081	0.0:0.8749:0.1251:0.0	.	325;325;288;325	E3W980;E3W982;Q8TDG4-2;Q8TDG4	.;.;.;HELQ_HUMAN	H	325	ENSP00000295488:D325H;ENSP00000424539:D325H	ENSP00000295488:D325H	D	-	1	0	HELQ	84593447	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.478000	0.66806	2.804000	0.96469	0.655000	0.94253	GAC	-	superfamily_P-loop containing nucleoside triphosphate hydrolases		0.323	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELQ	protein_coding	OTTHUMT00000252810.1	C	NM_133636		84593447	-1	no_errors	NM_133636	genbank	human	validated	54_36p	missense	SNP	1.000	G
KIF27	55582	genome.wustl.edu	37	9	86502015	86502015	+	Missense_Mutation	SNP	C	C	G	rs543373060		TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr9:86502015C>G	ENST00000297814.2	-	9	2323	c.2180G>C	c.(2179-2181)aGa>aCa	p.R727T	KIF27_ENST00000413982.1_Missense_Mutation_p.R727T|KIF27_ENST00000334204.2_Missense_Mutation_p.R727T|KIF27_ENST00000376347.1_Missense_Mutation_p.R118T	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	727					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TGTAAGTTCTCTCATTTTTTG	0.289																																																0			9											112.0	104.0	107.0					9																	86502015		2202	4298	6500	85691835	SO:0001583	missense	55582			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.2180G>C	9.37:g.86502015C>G	ENSP00000297814:p.Arg727Thr		85691835	B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1	p.R727T	ENST00000297814.2	37	c.2180	CCDS6665.1	9	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615055	0.66672	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204;ENST00000376347	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	4.27	2.38	0.29361	.	0.189508	0.35615	N	0.003088	T	0.62889	0.2465	M	0.79258	2.445	0.33692	D	0.613461	B;D;P	0.52996	0.386;0.957;0.851	B;P;B	0.54590	0.178;0.756;0.253	T	0.74297	-0.3711	10	0.62326	D	0.03	.	9.6498	0.39890	0.0:0.8272:0.0:0.1728	.	727;727;727	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	T	727;727;727;118	ENSP00000297814:R727T;ENSP00000401688:R727T;ENSP00000333928:R727T;ENSP00000365525:R118T	ENSP00000297814:R727T	R	-	2	0	KIF27	85691835	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.524000	0.53495	0.913000	0.36797	0.305000	0.20034	AGA	-	NULL		0.289	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF27	protein_coding	OTTHUMT00000052861.1	C	NM_017576		85691835	-1	no_errors	NM_017576	genbank	human	provisional	54_36p	missense	SNP	1.000	G
TMTC3	160418	genome.wustl.edu	37	12	88586468	88586468	+	Silent	SNP	T	T	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr12:88586468T>C	ENST00000266712.6	+	13	2014	c.1794T>C	c.(1792-1794)gaT>gaC	p.D598D		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	598					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						ATAATGCAGATCTTTGGTACA	0.338																																																0			12											94.0	99.0	97.0					12																	88586468		2203	4299	6502	87110599	SO:0001819	synonymous_variant	160418				CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1794T>C	12.37:g.88586468T>C			87110599	Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Silent	SNP	HMMPfam_DUF1736,superfamily_Prenyl_trans,HMMPfam_TPR_1,HMMSmart_TPR	p.D598	ENST00000266712.6	37	c.1794	CCDS9032.1	12																																																																																			-	superfamily_Prenyl_trans,HMMPfam_TPR_1,HMMSmart_TPR		0.338	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC3	protein_coding	OTTHUMT00000406421.1	T	NM_181783		87110599	+1	no_errors	NM_181783	genbank	human	validated	54_36p	silent	SNP	0.998	C
CPNE7	27132	genome.wustl.edu	37	16	89643970	89643970	+	Silent	SNP	G	G	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr16:89643970G>C	ENST00000268720.5	+	2	328	c.198G>C	c.(196-198)cgG>cgC	p.R66R	CPNE7_ENST00000319518.8_Silent_p.R66R	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	66	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		AGGTGGTCCGGAGCAGCCTGC	0.637																																																0			16											126.0	75.0	92.0					16																	89643970		2142	4196	6338	88171471	SO:0001819	synonymous_variant	27132			AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.198G>C	16.37:g.89643970G>C			88171471		Silent	SNP	HMMSmart_SM00239,HMMPfam_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_Copine	p.R66	ENST00000268720.5	37	c.198	CCDS10980.1	16																																																																																			-	HMMSmart_SM00239,HMMPfam_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)		0.637	CPNE7-002	KNOWN	basic|CCDS	protein_coding	CPNE7	protein_coding	OTTHUMT00000269929.2	G			88171471	+1	no_errors	NM_014427	genbank	human	reviewed	54_36p	silent	SNP	1.000	C
RARS2	57038	genome.wustl.edu	37	6	88251647	88251647	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr6:88251647G>T	ENST00000369536.5	-	8	646	c.601C>A	c.(601-603)Cat>Aat	p.H201N		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	201					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		TCAAAGAGATGCTGTAGAGGA	0.348																																																0			6											76.0	76.0	76.0					6																	88251647		2203	4300	6503	88308366	SO:0001583	missense	57038			AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	21406	protein-coding gene	gene with protein product	"""arginine tRNA ligase 2, mitochondrial (putative)"""	611524	"""arginyl-tRNA synthetase-like"""	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.601C>A	6.37:g.88251647G>T	ENSP00000358549:p.His201Asn		88308366	B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	superfamily_Arginyl-tRNA synthetase (ArgRS) N-terminal 'additional' domain,HMMPfam_tRNA-synt_1d,superfamily_Nucleotidylyl transferase,PatternScan_AA_TRNA_LIGASE_I,superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases,HMMPfam_DALR_1	p.H201N	ENST00000369536.5	37	c.601	CCDS5011.1	6	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444135	0.83993	.	.	ENSG00000146282	ENST00000369536	T	0.63255	-0.03	5.85	5.85	0.93711	Arginyl-tRNA synthetase, class Ia, core (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.71728	0.3374	M	0.63428	1.95	0.80722	D	1	D	0.63880	0.993	D	0.67900	0.954	T	0.65869	-0.6063	10	0.32370	T	0.25	.	19.7539	0.96283	0.0:0.0:1.0:0.0	.	201	Q5T160	SYRM_HUMAN	N	201	ENSP00000358549:H201N	ENSP00000358549:H201N	H	-	1	0	RARS2	88308366	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.499000	0.81566	2.770000	0.95276	0.563000	0.77884	CAT	-	HMMPfam_tRNA-synt_1d,superfamily_Nucleotidylyl transferase		0.348	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RARS2	protein_coding	OTTHUMT00000041448.1	G	NM_020320		88308366	-1	no_errors	NM_020320	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
GJA10	84694	genome.wustl.edu	37	6	90605258	90605258	+	Silent	SNP	A	A	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr6:90605258A>C	ENST00000369352.1	+	1	1071	c.1071A>C	c.(1069-1071)tcA>tcC	p.S357S	Y_RNA_ENST00000517082.1_RNA	NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	0					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		ACCATTCCTCATTTGGCCTGC	0.542																																																0			6											106.0	99.0	101.0					6																	90605258		2203	4300	6503	90661979	SO:0001819	synonymous_variant	84694			AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.1071A>C	6.37:g.90605258A>C			90661979	B2R722|B3KVQ2|Q5TA63|Q96KG0	Silent	SNP	HMMPfam_Connexin,HMMSmart_CNX,PatternScan_CONNEXINS_1,HMMPfam_Connexin_CCC,PatternScan_CONNEXINS_2	p.S357	ENST00000369352.1	37	c.1071	CCDS5025.1	6																																																																																			-	NULL		0.542	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA10	protein_coding	OTTHUMT00000041505.1	A	NM_032602		90661979	+1	no_errors	NM_032602	genbank	human	validated	54_36p	silent	SNP	0.000	C
AKAP9	10142	genome.wustl.edu	37	7	91708846	91708846	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr7:91708846G>T	ENST00000359028.2	+	32	7660	c.7435G>T	c.(7435-7437)Gta>Tta	p.V2479L	AKAP9_ENST00000356239.3_Missense_Mutation_p.V2467L|AKAP9_ENST00000358100.2_Missense_Mutation_p.V2479L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2479	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGAACTAGAAGTAGTCCTTAC	0.358			T	BRAF	papillary thyroid																																		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0			7											84.0	86.0	85.0					7																	91708846		2203	4300	6503	91546782	SO:0001583	missense	10142			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.7435G>T	7.37:g.91708846G>T	ENSP00000351922:p.Val2479Leu		91546782	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	PatternScan_CPSASE_2,HMMPfam_PACT_coil_coil	p.V2467L	ENST00000359028.2	37	c.7399		7	.	.	.	.	.	.	.	.	.	.	G	2.252	-0.371263	0.05034	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03413	4.02;4.02;4.01;3.94	3.85	-0.127	0.13510	.	1.020340	0.07907	N	0.973650	T	0.04048	0.0113	L	0.46157	1.445	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.001	B;B;B;B	0.08055	0.001;0.001;0.003;0.003	T	0.45891	-0.9230	10	0.27785	T	0.31	.	6.2412	0.20791	0.2411:0.1455:0.6134:0.0	.	2471;2479;2467;2459	Q99996-6;Q99996;Q99996-2;Q99996-3	.;AKAP9_HUMAN;.;.	L	2467;2479;2479;2471;313	ENSP00000348573:V2467L;ENSP00000351922:V2479L;ENSP00000350813:V2479L;ENSP00000378042:V313L	ENSP00000348573:V2467L	V	+	1	0	AKAP9	91546782	1.000000	0.71417	0.000000	0.03702	0.265000	0.26407	4.120000	0.57897	-0.031000	0.13781	0.460000	0.39030	GTA	-	NULL		0.358	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	protein_coding		G	NM_005751		91546782	+1	no_errors	NM_005751	genbank	human	reviewed	54_36p	missense	SNP	0.181	T
MTNR1B	4544	genome.wustl.edu	37	11	92702947	92702947	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr11:92702947G>A	ENST00000257068.2	+	1	62	c.56G>A	c.(55-57)cGc>cAc	p.R19H		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	19					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	TGGGCAGTGCGCCCGGGCTGG	0.741																																																0			11											8.0	10.0	9.0					11																	92702947		2098	4072	6170	92342595	SO:0001583	missense	4544			AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.56G>A	11.37:g.92702947G>A	ENSP00000257068:p.Arg19His		92342595		Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.R19H	ENST00000257068.2	37	c.56	CCDS8290.1	11	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013391	0.35511	.	.	ENSG00000134640	ENST00000257068	T	0.73575	-0.76	4.36	-0.271	0.12922	.	0.746897	0.12367	N	0.475152	T	0.55862	0.1947	N	0.22421	0.69	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.45101	-0.9284	10	0.42905	T	0.14	-7.715	6.8946	0.24249	0.1613:0.2447:0.594:0.0	.	19	P49286	MTR1B_HUMAN	H	19	ENSP00000257068:R19H	ENSP00000257068:R19H	R	+	2	0	MTNR1B	92342595	0.001000	0.12720	0.494000	0.27515	0.025000	0.11179	0.555000	0.23422	0.307000	0.22880	-0.463000	0.05309	CGC	-	NULL		0.741	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTNR1B	protein_coding	OTTHUMT00000394323.1	G			92342595	+1	no_errors	NM_005959	genbank	human	reviewed	54_36p	missense	SNP	0.005	A
ANKRD1	27063	genome.wustl.edu	37	10	92675935	92675935	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr10:92675935C>T	ENST00000371697.3	-	6	892	c.644G>A	c.(643-645)cGa>cAa	p.R215Q		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	215					cardiac muscle tissue morphogenesis (GO:0055008)|cellular lipid metabolic process (GO:0044255)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|skeletal muscle cell differentiation (GO:0035914)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I band (GO:0031674)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|p53 binding (GO:0002039)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|titin binding (GO:0031432)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				TACCTTATCTCGGGCGCTAAT	0.527																																																0			10											82.0	79.0	80.0					10																	92675935		2203	4300	6503	92665915	SO:0001583	missense	27063			X83703	CCDS7412.1	10q23.33	2014-09-17			ENSG00000148677	ENSG00000148677		"""Ankyrin repeat domain containing"""	15819	protein-coding gene	gene with protein product		609599				7730328	Standard	NM_014391		Approved	C-193, ALRP, CARP, CVARP, MCARP	uc001khe.1	Q15327	OTTHUMG00000018734	ENST00000371697.3:c.644G>A	10.37:g.92675935C>T	ENSP00000360762:p.Arg215Gln		92665915	Q96LE7	Missense_Mutation	SNP	superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK	p.R215Q	ENST00000371697.3	37	c.644	CCDS7412.1	10	.	.	.	.	.	.	.	.	.	.	C	32	5.178885	0.94846	.	.	ENSG00000148677	ENST00000371697	T	0.67345	-0.26	5.35	5.35	0.76521	Ankyrin repeat-containing domain (4);	0.089153	0.46442	D	0.000299	T	0.58680	0.2139	N	0.12637	0.245	0.58432	D	0.999999	P	0.35468	0.503	B	0.42343	0.384	T	0.63883	-0.6536	10	0.56958	D	0.05	.	19.0606	0.93091	0.0:1.0:0.0:0.0	.	215	Q15327	ANKR1_HUMAN	Q	215	ENSP00000360762:R215Q	ENSP00000360762:R215Q	R	-	2	0	ANKRD1	92665915	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.977000	0.76141	2.511000	0.84671	0.484000	0.47621	CGA	-	superfamily_ANK,HMMPfam_Ank		0.527	ANKRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD1	protein_coding	OTTHUMT00000049357.1	C	NM_014391		92665915	-1	no_errors	NM_014391	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
ANKRD32	84250	genome.wustl.edu	37	5	94030921	94030921	+	Silent	SNP	A	A	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr5:94030921A>G	ENST00000265140.5	+	21	3500	c.3081A>G	c.(3079-3081)gaA>gaG	p.E1027E	ANKRD32_ENST00000493934.1_Intron	NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	1027						centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		TTCTTAAGGAACTGCCTGAGA	0.403																																																0			5											108.0	113.0	111.0					5																	94030921		2203	4297	6500	94056677	SO:0001819	synonymous_variant	84250			AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"""Ankyrin repeat domain containing"""	25408	protein-coding gene	gene with protein product			"""BRCT domain containing 1"""	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.3081A>G	5.37:g.94030921A>G			94056677	B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Silent	SNP	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank	p.E391	ENST00000265140.5	37	c.1173	CCDS4071.2	5																																																																																			-	NULL		0.403	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD32	protein_coding	OTTHUMT00000241610.1	A	NM_032290		94056677	+1	no_errors	NM_032290	genbank	human	validated	54_36p	silent	SNP	0.980	G
WNK2	65268	genome.wustl.edu	37	9	96054853	96054853	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr9:96054853G>T	ENST00000297954.4	+	23	5217	c.5217G>T	c.(5215-5217)gaG>gaT	p.E1739D	WNK2_ENST00000395477.2_Missense_Mutation_p.E1702D|WNK2_ENST00000427277.2_Missense_Mutation_p.E1314D|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.E1351D|WNK2_ENST00000356055.3_Missense_Mutation_p.E66D	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1739					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GCTCGGCAGAGCCCCCGCCGA	0.627																																																0			9											28.0	26.0	26.0					9																	96054853		2199	4297	6496	95094674	SO:0001583	missense	65268			AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.5217G>T	9.37:g.96054853G>T	ENSP00000297954:p.Glu1739Asp		95094674	Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST	p.E1702D	ENST00000297954.4	37	c.5106		9	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	11.77|11.77|11.77	1.738946|1.738946|1.738946	0.30774|0.30774|0.30774	.|.|.	.|.|.	ENSG00000165238|ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277;ENST00000356055|ENST00000432730;ENST00000448251;ENST00000453718	.|T;T;T;T;D|.	.|0.83506|.	.|-0.4;-0.39;0.2;0.2;-1.73|.	4.55|4.55|4.55	0.501|0.501|0.501	0.16925|0.16925|0.16925	.|.|.	.|0.914177|.	.|0.09556|.	.|N|.	.|0.786209|.	T|T|T	0.31295|0.31295|0.31295	0.0792|0.0792|0.0792	L|L|L	0.29908|0.29908|0.29908	0.895|0.895|0.895	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|B;D;B;D;P|.	.|0.61697|.	.|0.335;0.965;0.244;0.99;0.92|.	.|B;P;B;P;B|.	.|0.55999|.	.|0.135;0.549;0.073;0.789;0.422|.	T|T|T	0.27773|0.27773|0.27773	-1.0064|-1.0064|-1.0064	5|10|5	.|0.12766|.	.|T|.	.|0.61|.	.|.|.	8.4319|8.4319|8.4319	0.32764|0.32764|0.32764	0.4452:0.0:0.5548:0.0|0.4452:0.0:0.5548:0.0|0.4452:0.0:0.5548:0.0	.|.|.	.|1702;1697;1305;1702;1739|.	.|Q9Y3S1-2;A6PVR3;A6PVR4;F8W9F9;Q9Y3S1|.	.|.;.;.;.;WNK2_HUMAN|.	S|D|I	1306|1739;1702;1351;1314;66|1698;499;224	.|ENSP00000297954:E1739D;ENSP00000378860:E1702D;ENSP00000297876:E1351D;ENSP00000411181:E1314D;ENSP00000348347:E66D|.	.|ENSP00000297954:E1739D|.	A|E|S	+|+|+	1|3|2	0|2|0	WNK2|WNK2|WNK2	95094674|95094674|95094674	0.001000|0.001000|0.001000	0.12720|0.12720|0.12720	0.005000|0.005000|0.005000	0.12908|0.12908|0.12908	0.013000|0.013000|0.013000	0.08279|0.08279|0.08279	0.374000|0.374000|0.374000	0.20501|0.20501|0.20501	0.162000|0.162000|0.162000	0.19483|0.19483|0.19483	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GCC|GAG|AGC	-	NULL		0.627	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	WNK2	protein_coding	OTTHUMT00000317359.1	G	NM_006648		95094674	+1	no_errors	NM_006648	genbank	human	reviewed	54_36p	missense	SNP	0.003	T
OR5AC2	81050	genome.wustl.edu	37	3	97806545	97806545	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr3:97806545C>T	ENST00000358642.2	+	1	529	c.529C>T	c.(529-531)Cat>Tat	p.H177Y		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	177					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TAACATAATACATTATTTCTA	0.318																																																0			3											77.0	82.0	81.0					3																	97806545		2203	4300	6503	99289235	SO:0001583	missense	81050			AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"""GPCR / Class A : Olfactory receptors"""	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.529C>T	3.37:g.97806545C>T	ENSP00000351466:p.His177Tyr		99289235		Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.H177Y	ENST00000358642.2	37	c.529	CCDS33796.1	3	.	.	.	.	.	.	.	.	.	.	C	15.45	2.838040	0.50951	.	.	ENSG00000196578	ENST00000358642	T	0.00198	8.57	5.15	3.33	0.38152	GPCR, rhodopsin-like superfamily (1);	0.281711	0.19799	U	0.105793	T	0.00356	0.0011	M	0.67517	2.055	0.09310	N	0.999999	D	0.55385	0.971	P	0.62560	0.904	T	0.47799	-0.9089	10	0.66056	D	0.02	-1.4115	4.4256	0.11501	0.1582:0.6033:0.1532:0.0853	.	177	Q9NZP5	O5AC2_HUMAN	Y	177	ENSP00000351466:H177Y	ENSP00000351466:H177Y	H	+	1	0	OR5AC2	99289235	0.000000	0.05858	0.938000	0.37757	0.737000	0.42083	-0.425000	0.07017	0.575000	0.29434	0.590000	0.80494	CAT	-	superfamily_SSF81321,HMMPfam_7tm_1		0.318	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AC2	protein_coding	OTTHUMT00000359116.1	C			99289235	+1	no_errors	NM_054106	genbank	human	provisional	54_36p	missense	SNP	0.000	T
CHSY1	22856	genome.wustl.edu	37	15	101718613	101718613	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr15:101718613C>G	ENST00000254190.3	-	3	1864	c.1389G>C	c.(1387-1389)atG>atC	p.M463I	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	463					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAGGGACCGTCATTTTCTTCC	0.512																																																0			15											46.0	44.0	45.0					15																	101718613		2203	4300	6503	99536136	SO:0001583	missense	22856			AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	17198	protein-coding gene	gene with protein product		608183	"""carbohydrate (chondroitin) synthase 1"""			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.1389G>C	15.37:g.101718613C>G	ENSP00000254190:p.Met463Ile		99536136	Q6UX38|Q7LFU5|Q9Y2J5	Missense_Mutation	SNP	HMMPfam_CHGN,superfamily_SSF53448	p.M463I	ENST00000254190.3	37	c.1389	CCDS10390.1	15	.	.	.	.	.	.	.	.	.	.	C	13.71	2.316961	0.40996	.	.	ENSG00000131873	ENST00000254190;ENST00000543813	T	0.16324	2.35	5.8	5.8	0.92144	.	0.042833	0.85682	D	0.000000	T	0.22898	0.0553	L	0.60845	1.875	0.80722	D	1	B	0.19583	0.037	B	0.18871	0.023	T	0.01966	-1.1238	10	0.33940	T	0.23	-47.466	20.063	0.97692	0.0:1.0:0.0:0.0	.	463	Q86X52	CHSS1_HUMAN	I	463;191	ENSP00000254190:M463I	ENSP00000254190:M463I	M	-	3	0	CHSY1	99536136	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.818000	0.69236	2.735000	0.93741	0.655000	0.94253	ATG	-	HMMPfam_CHGN,superfamily_SSF53448		0.512	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHSY1	protein_coding	OTTHUMT00000313624.1	C	NM_014918		99536136	-1	no_errors	NM_014918	genbank	human	validated	54_36p	missense	SNP	1.000	G
TFR2	7036	genome.wustl.edu	37	7	100224455	100224455	+	Silent	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr7:100224455C>T	ENST00000462107.1	-	18	2354	c.2067G>A	c.(2065-2067)cgG>cgA	p.R689R	TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000223051.3_Silent_p.R689R|TFR2_ENST00000544242.1_Silent_p.R230R			Q9UP52	TFR2_HUMAN	transferrin receptor 2	689					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	AGATCTCCTGCCGCAGCTTTT	0.706																																																0			7											32.0	23.0	26.0					7																	100224455		2010	3900	5910	100062391	SO:0001819	synonymous_variant	7036			AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.2067G>A	7.37:g.100224455C>T			100062391	A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Silent	SNP	superfamily_Transferrin receptor ectodomain apical domain,HMMPfam_PA,superfamily_Zn-dependent exopeptidases,HMMPfam_Peptidase_M28,superfamily_Transferrin receptor ectodomain C-terminal domain,HMMPfam_TFR_dimer	p.R689	ENST00000462107.1	37	c.2067	CCDS34707.1	7																																																																																			-	superfamily_Transferrin receptor ectodomain C-terminal domain,HMMPfam_TFR_dimer		0.706	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFR2	protein_coding	OTTHUMT00000356392.3	C	NM_003227		100062391	-1	no_errors	NM_003227	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
OR4F6	390648	genome.wustl.edu	37	15	102346199	102346199	+	Missense_Mutation	SNP	T	T	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr15:102346199T>C	ENST00000328882.4	+	1	298	c.277T>C	c.(277-279)Tct>Cct	p.S93P		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CAAGACCATCTCTTTTGGGGG	0.463																																																0			15											204.0	195.0	198.0					15																	102346199		2203	4300	6503	100163722	SO:0001583	missense	390648			AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"""GPCR / Class A : Olfactory receptors"""	15372	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily F, member 12"""	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.277T>C	15.37:g.102346199T>C	ENSP00000327525:p.Ser93Pro		100163722	B9EH28|Q6IF95	Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.S93P	ENST00000328882.4	37	c.277	CCDS32341.1	15	.	.	.	.	.	.	.	.	.	.	.	14.04	2.418037	0.42918	.	.	ENSG00000184140	ENST00000328882	T	0.00737	5.76	4.85	4.85	0.62838	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000050	T	0.04227	0.0117	M	0.82056	2.57	0.24271	N	0.995243	D	0.76494	0.999	D	0.73380	0.98	T	0.06373	-1.0830	10	0.72032	D	0.01	.	12.6892	0.56964	0.0:0.0:0.0:1.0	.	93	Q8NGB9	OR4F6_HUMAN	P	93	ENSP00000327525:S93P	ENSP00000327525:S93P	S	+	1	0	OR4F6	100163722	0.003000	0.15002	0.797000	0.32132	0.322000	0.28314	0.920000	0.28705	2.157000	0.67596	0.482000	0.46254	TCT	-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.463	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4F6	protein_coding	OTTHUMT00000417593.1	T			100163722	+1	no_errors	NM_001005326	genbank	human	provisional	54_36p	missense	SNP	0.537	C
PPIP5K2	23262	genome.wustl.edu	37	5	102482230	102482230	+	Splice_Site	SNP	G	G	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr5:102482230G>A	ENST00000358359.3	+	6	996		c.e6-1		PPIP5K2_ENST00000513500.1_Splice_Site|PPIP5K2_ENST00000321521.9_Splice_Site|PPIP5K2_ENST00000414217.1_Splice_Site	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2						inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTGTTTTATAGAATGTAATCT	0.328																																																0			5											80.0	85.0	83.0					5																	102482230		2201	4299	6500	102510129	SO:0001630	splice_region_variant	23262			AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.488-1G>A	5.37:g.102482230G>A			102510129	A1NI53|A6NGS8|Q8TB50	Splice_Site	SNP	-	e5-1	ENST00000358359.3	37	c.488-1		5	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335030	0.81801	.	.	ENSG00000145725	ENST00000321521;ENST00000507921;ENST00000358359;ENST00000451606;ENST00000414217;ENST00000507310	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9007	0.92442	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPIP5K2	102510129	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	9.420000	0.97426	2.549000	0.85964	0.650000	0.86243	.	-	-		0.328	PPIP5K2-003	KNOWN	basic	protein_coding	HISPPD1	protein_coding	OTTHUMT00000370487.1	G	NM_015216	Intron	102510129	+1	no_errors	NM_015216	genbank	human	provisional	54_36p	splice_site	SNP	1.000	A
NAMPT	10135	genome.wustl.edu	37	7	105912982	105912982	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr7:105912982C>G	ENST00000222553.3	-	4	748	c.441G>C	c.(439-441)tgG>tgC	p.W147C	NAMPT_ENST00000354289.4_Missense_Mutation_p.W147C|NAMPT_ENST00000484527.1_5'UTR	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	147					cell-cell signaling (GO:0007267)|circadian regulation of gene expression (GO:0032922)|NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|nicotinamide metabolic process (GO:0006769)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|nicotinamide phosphoribosyltransferase activity (GO:0047280)|nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TTACCTCAATCCAATTTGTAA	0.318																																																0			7											49.0	48.0	49.0					7																	105912982		2202	4300	6502	105700218	SO:0001583	missense	10135			U02020	CCDS5737.1	7q22.3	2012-10-02	2008-03-27	2008-03-27	ENSG00000105835	ENSG00000105835			30092	protein-coding gene	gene with protein product	"""visfatin"""	608764	"""pre-B-cell colony enhancing factor 1"""	PBEF1		8289818	Standard	NM_005746		Approved	PBEF	uc003vdq.3	P43490	OTTHUMG00000140388	ENST00000222553.3:c.441G>C	7.37:g.105912982C>G	ENSP00000222553:p.Trp147Cys		105700218	A4D0Q9|A4D0R0|Q3KQV0|Q8WW95	Missense_Mutation	SNP	HMMPfam_NAPRTase	p.W147C	ENST00000222553.3	37	c.441	CCDS5737.1	7	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498915	0.85069	.	.	ENSG00000105835	ENST00000222553;ENST00000354289	T;T	0.26067	1.76;1.76	5.2	5.2	0.72013	.	0.173725	0.56097	D	0.000040	T	0.53481	0.1799	M	0.82823	2.61	0.80722	D	1	D;D;D	0.76494	0.999;0.98;0.986	P;P;P	0.60949	0.881;0.802;0.741	T	0.60647	-0.7222	10	0.87932	D	0	-0.4563	19.1572	0.93516	0.0:1.0:0.0:0.0	.	60;128;147	B7Z8W6;Q5SYT8;P43490	.;.;NAMPT_HUMAN	C	147	ENSP00000222553:W147C;ENSP00000346242:W147C	ENSP00000222553:W147C	W	-	3	0	NAMPT	105700218	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.792000	0.62467	2.604000	0.88044	0.650000	0.86243	TGG	-	NULL		0.318	NAMPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAMPT	protein_coding	OTTHUMT00000277146.1	C	NM_182790		105700218	-1	no_errors	NM_005746	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
INTS12	57117	genome.wustl.edu	37	4	106614528	106614528	+	Missense_Mutation	SNP	T	T	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr4:106614528T>A	ENST00000451321.2	-	4	904	c.425A>T	c.(424-426)gAc>gTc	p.D142V	INTS12_ENST00000340139.5_Missense_Mutation_p.D142V|INTS12_ENST00000394735.1_Missense_Mutation_p.D142V	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	142					snRNA processing (GO:0016180)	integrator complex (GO:0032039)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		ACTGGAAAGGTCAGCCATAGG	0.433																																																0			4											224.0	221.0	222.0					4																	106614528		2203	4300	6503	106833977	SO:0001583	missense	57117				CCDS3671.1	4q24	2013-01-28	2006-03-15	2006-03-15	ENSG00000138785	ENSG00000138785		"""Zinc fingers, PHD-type"""	25067	protein-coding gene	gene with protein product	"""hypothetical nuclear factor SBBI22"""	611355	"""PHD finger protein 22"""	PHF22		16239144	Standard	NM_020395		Approved	SBBI22, INT12	uc010ilr.3	Q96CB8	OTTHUMG00000131215	ENST00000451321.2:c.425A>T	4.37:g.106614528T>A	ENSP00000415433:p.Asp142Val		106833977	B2RC48|Q3B6Z3|Q9HD71	Missense_Mutation	SNP	superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1	p.D142V	ENST00000451321.2	37	c.425	CCDS3671.1	4	.	.	.	.	.	.	.	.	.	.	T	27.3	4.821514	0.90873	.	.	ENSG00000138785	ENST00000394735;ENST00000340139;ENST00000451321;ENST00000503746	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.93	5.93	0.95920	.	0.045090	0.85682	D	0.000000	T	0.49983	0.1589	L	0.54323	1.7	0.80722	D	1	P	0.51240	0.943	P	0.49637	0.617	T	0.47560	-0.9108	10	0.45353	T	0.12	-5.6051	16.3871	0.83514	0.0:0.0:0.0:1.0	.	142	Q96CB8	INT12_HUMAN	V	142	ENSP00000378221:D142V;ENSP00000340737:D142V;ENSP00000415433:D142V;ENSP00000423618:D142V	ENSP00000340737:D142V	D	-	2	0	INTS12	106833977	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.484000	0.66844	2.270000	0.75569	0.482000	0.46254	GAC	-	NULL		0.433	INTS12-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	INTS12	protein_coding	OTTHUMT00000318624.1	T	NM_020395		106833977	-1	no_errors	NM_020395	genbank	human	validated	54_36p	missense	SNP	1.000	A
TMEM38B	55151	genome.wustl.edu	37	9	108483838	108483838	+	Missense_Mutation	SNP	C	C	G	rs547699490		TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr9:108483838C>G	ENST00000374692.3	+	3	407	c.290C>G	c.(289-291)cCg>cGg	p.P97R	TMEM38B_ENST00000374688.1_Missense_Mutation_p.P43R	NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	97						integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						TTTTTTTGCCCGCATGACCTA	0.358																																																0			9											75.0	69.0	71.0					9																	108483838		2202	4300	6502	107523659	SO:0001583	missense	55151			BC031938	CCDS6768.1	9q31.3	2013-05-23	2004-12-21	2004-12-22	ENSG00000095209	ENSG00000095209			25535	protein-coding gene	gene with protein product		611236	"""chromosome 9 open reading frame 87"""	C9orf87		17611541, 23316006	Standard	NM_018112		Approved	FLJ10493, bA219P18.1, D4Ertd89e, TRIC-B	uc004bcu.2	Q9NVV0	OTTHUMG00000020429	ENST00000374692.3:c.290C>G	9.37:g.108483838C>G	ENSP00000363824:p.Pro97Arg		107523659	Q5JR63|Q5SVN5|Q5SVN6|Q5VTE2|Q6IA97	Missense_Mutation	SNP	HMMPfam_DUF714	p.P97R	ENST00000374692.3	37	c.290	CCDS6768.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.88|15.88	2.964057|2.964057	0.53507|0.53507	.|.	.|.	ENSG00000095209|ENSG00000095209	ENST00000374692;ENST00000374688|ENST00000435034	T;D|.	0.85171|.	-0.49;-1.95|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82296|0.82296	0.5006|0.5006	M|M	0.82823|0.82823	2.61|2.61	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.82768|0.82768	-0.0294|-0.0294	10|5	0.87932|.	D|.	0|.	-14.4034|-14.4034	18.9027|18.9027	0.92449|0.92449	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	97|.	Q9NVV0|.	TM38B_HUMAN|.	R|G	97;43|34	ENSP00000363824:P97R;ENSP00000363820:P43R|.	ENSP00000363820:P43R|.	P|R	+|+	2|1	0|0	TMEM38B|TMEM38B	107523659|107523659	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.123000|0.123000	0.20343|0.20343	7.029000|7.029000	0.76477|0.76477	2.709000|2.709000	0.92574|0.92574	0.655000|0.655000	0.94253|0.94253	CCG|CGC	-	HMMPfam_DUF714		0.358	TMEM38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM38B	protein_coding	OTTHUMT00000053517.1	C	NM_018112		107523659	+1	no_errors	NM_018112	genbank	human	provisional	54_36p	missense	SNP	0.995	G
HENMT1	113802	genome.wustl.edu	37	1	109192951	109192951	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr1:109192951G>C	ENST00000370032.5	-	7	1058	c.638C>G	c.(637-639)cCa>cGa	p.P213R	HENMT1_ENST00000370031.1_Missense_Mutation_p.P213R|HENMT1_ENST00000493676.1_5'UTR|HENMT1_ENST00000402983.1_Missense_Mutation_p.P213R	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	213					gene silencing by RNA (GO:0031047)|piRNA metabolic process (GO:0034587)|RNA methylation (GO:0001510)	P granule (GO:0043186)	metal ion binding (GO:0046872)|O-methyltransferase activity (GO:0008171)|RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						TCCAGCTGGTGGTTCCCCGAC	0.433																																																0			1											113.0	104.0	107.0					1																	109192951		2203	4300	6503	108994474	SO:0001583	missense	113802				CCDS787.1	1p13.3	2011-01-28	2011-01-28	2011-01-28	ENSG00000162639	ENSG00000162639			26400	protein-coding gene	gene with protein product	"""HEN1 methyltransferase homolog (Arabidopsis)"""	612178	"""chromosome 1 open reading frame 59"""	C1orf59			Standard	NM_144584		Approved	FLJ30525, HEN1	uc001dvt.4	Q5T8I9	OTTHUMG00000011123	ENST00000370032.5:c.638C>G	1.37:g.109192951G>C	ENSP00000359049:p.Pro213Arg		108994474	A8MRR6|B1AM16|B1AM17|Q96EJ7|Q96NN0	Missense_Mutation	SNP	superfamily_SSF53335	p.P213R	ENST00000370032.5	37	c.638	CCDS787.1	1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.621707	0.46736	.	.	ENSG00000162639	ENST00000402983;ENST00000370031;ENST00000370032;ENST00000420055	T;T;T;T	0.31247	1.9;1.95;1.9;1.5	5.39	4.47	0.54385	.	0.059788	0.64402	D	0.000002	T	0.32763	0.0840	L	0.34521	1.04	0.54753	D	0.999981	D	0.89917	1.0	D	0.76575	0.988	T	0.03784	-1.1004	10	0.46703	T	0.11	.	13.182	0.59660	0.0781:0.0:0.9219:0.0	.	213	Q5T8I9	HENMT_HUMAN	R	213	ENSP00000385655:P213R;ENSP00000359048:P213R;ENSP00000359049:P213R;ENSP00000403953:P213R	ENSP00000359048:P213R	P	-	2	0	HENMT1	108994474	1.000000	0.71417	0.135000	0.22099	0.029000	0.11900	5.170000	0.64990	2.529000	0.85273	0.655000	0.94253	CCA	-	NULL		0.433	HENMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf59	protein_coding	OTTHUMT00000030592.1	G	NM_144584		108994474	-1	no_errors	NM_001102592	genbank	human	validated	54_36p	missense	SNP	0.901	C
WDR47	22911	genome.wustl.edu	37	1	109525396	109525396	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr1:109525396C>A	ENST00000369962.3	-	12	2323	c.2101G>T	c.(2101-2103)Gat>Tat	p.D701Y	WDR47_ENST00000361054.3_Missense_Mutation_p.D673Y|WDR47_ENST00000400794.3_Missense_Mutation_p.D709Y|WDR47_ENST00000369965.4_Missense_Mutation_p.D702Y|WDR47_ENST00000357672.3_Missense_Mutation_p.D673Y			O94967	WDR47_HUMAN	WD repeat domain 47	701					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		AATTCCAGATCTGGTCCTGAA	0.378																																																0			1											56.0	59.0	58.0					1																	109525396		2203	4300	6503	109326919	SO:0001583	missense	22911			AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.2101G>T	1.37:g.109525396C>A	ENSP00000358979:p.Asp701Tyr		109326919	A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	HMMSmart_LisH,HMMSmart_CTLH,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1	p.D702Y	ENST00000369962.3	37	c.2104	CCDS44187.1	1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515378	0.85389	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.58060	0.36;0.4;0.36;0.36;0.36	5.25	5.25	0.73442	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.097019	0.64402	D	0.000001	T	0.43787	0.1263	N	0.22421	0.69	0.80722	D	1	D;D;P	0.57571	0.98;0.979;0.935	P;P;P	0.53809	0.547;0.707;0.735	T	0.51036	-0.8756	10	0.72032	D	0.01	-13.9671	17.0163	0.86420	0.0:1.0:0.0:0.0	.	709;701;702	A8MX09;O94967;O94967-3	.;WDR47_HUMAN;.	Y	709;701;673;702;673	ENSP00000383599:D709Y;ENSP00000358979:D701Y;ENSP00000354339:D673Y;ENSP00000358982:D702Y;ENSP00000350301:D673Y	ENSP00000350301:D673Y	D	-	1	0	WDR47	109326919	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.452000	0.82932	0.561000	0.74099	GAT	-	superfamily_WD40_like,HMMSmart_WD40		0.378	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR47	protein_coding	OTTHUMT00000032414.2	C	NM_014969		109326919	-1	no_errors	NM_014969	genbank	human	validated	54_36p	missense	SNP	1.000	A
POU2AF1	5450	genome.wustl.edu	37	11	111225140	111225140	+	Missense_Mutation	SNP	A	A	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr11:111225140A>G	ENST00000393067.3	-	5	1131	c.617T>C	c.(616-618)gTc>gCc	p.V206A		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	206					humoral immune response (GO:0006959)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		GGGGAGCTGGACAAACTGGGG	0.612			T	BCL6	NHL																																		Dom	yes		11	11q23.1	5450	"""POU domain, class 2, associating factor 1 (OBF1)"""		L	0			11											51.0	55.0	54.0					11																	111225140		2201	4297	6498	110730350	SO:0001583	missense	5450				CCDS31675.1	11q23.1	2011-06-01	2007-07-13			ENSG00000110777			9211	protein-coding gene	gene with protein product		601206	"""POU domain class 2, associating factor 1"""			8617501	Standard	NM_006235		Approved	OBF1	uc001plg.4	Q16633		ENST00000393067.3:c.617T>C	11.37:g.111225140A>G	ENSP00000376786:p.Val206Ala		110730350	B2R8Z9|Q14983	Missense_Mutation	SNP	HMMPfam_PD-C2-AF1	p.V206A	ENST00000393067.3	37	c.617	CCDS31675.1	11	.	.	.	.	.	.	.	.	.	.	A	18.42	3.620556	0.66787	.	.	ENSG00000110777	ENST00000393067	T	0.36157	1.27	4.94	4.94	0.65067	.	0.074563	0.51477	D	0.000087	T	0.38852	0.1056	L	0.53249	1.67	0.38423	D	0.946223	P	0.42456	0.78	B	0.42112	0.376	T	0.48317	-0.9046	10	0.72032	D	0.01	-36.8693	14.4288	0.67236	1.0:0.0:0.0:0.0	.	206	Q16633	OBF1_HUMAN	A	206	ENSP00000376786:V206A	ENSP00000376786:V206A	V	-	2	0	POU2AF1	110730350	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.556000	0.73932	2.067000	0.61834	0.460000	0.39030	GTC	-	HMMPfam_PD-C2-AF1		0.612	POU2AF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU2AF1	protein_coding	OTTHUMT00000391002.1	A	NM_006235		110730350	-1	no_errors	NM_006235	genbank	human	validated	54_36p	missense	SNP	1.000	G
UPF3A	65110	genome.wustl.edu	37	13	115057249	115057249	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr13:115057249G>C	ENST00000375299.3	+	7	884	c.828G>C	c.(826-828)gaG>gaC	p.E276D	UPF3A_ENST00000475218.2_3'UTR|UPF3A_ENST00000351487.5_Missense_Mutation_p.E243D	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	276					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		aaattgcagagaaagaagTAA	0.308																																																0			13											41.0	42.0	42.0					13																	115057249		2197	4297	6494	114075351	SO:0001583	missense	65110			AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.828G>C	13.37:g.115057249G>C	ENSP00000364448:p.Glu276Asp		114075351	A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Missense_Mutation	SNP	HMMPfam_Smg4_UPF3,superfamily_RNA-binding domain RBD	p.E276D	ENST00000375299.3	37	c.828	CCDS9543.1	13	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872163	0.33069	.	.	ENSG00000169062	ENST00000375299;ENST00000351487;ENST00000543577	D;T	0.82619	-1.63;1.5	5.84	4.82	0.62117	.	0.364269	0.30227	N	0.010110	D	0.88764	0.6525	M	0.74881	2.28	0.41506	D	0.98831	P;D	0.69078	0.724;0.997	P;D	0.72625	0.487;0.978	D	0.88091	0.2813	9	.	.	.	-12.5724	8.9135	0.35568	0.171:0.0:0.829:0.0	.	243;276	Q9H1J1-2;Q9H1J1	.;REN3A_HUMAN	D	276;243;75	ENSP00000364448:E276D;ENSP00000329592:E243D	.	E	+	3	2	UPF3A	114075351	1.000000	0.71417	1.000000	0.80357	0.332000	0.28634	0.576000	0.23744	2.765000	0.95021	0.655000	0.94253	GAG	-	NULL		0.308	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPF3A	protein_coding	OTTHUMT00000045968.2	G			114075351	+1	no_errors	NM_023011	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
AC017074.1	0	genome.wustl.edu	37	2	114426077	114426077	+	lincRNA	SNP	C	C	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr2:114426077C>G	ENST00000439382.1	+	0	0																											TCGATCTTGCCTACAGGATAC	0.582																																																0			2																																								114142547			645529																															2.37:g.114426077C>G			114142547		Missense_Mutation	SNP	HMMSmart_SM00020,superfamily_Trypsin-like serine proteases,HMMPfam_Trypsin,PatternScan_TRYPSIN_SER	p.G165R	ENST00000439382.1	37	c.493		2																																																																																			-	HMMSmart_SM00020,superfamily_Trypsin-like serine proteases,HMMPfam_Trypsin		0.582	AC017074.1-001	KNOWN	basic	lincRNA	LOC645529	lincRNA	OTTHUMT00000330953.1	C			114142547	-1	no_errors	XM_001716670	genbank	human	model	54_36p	missense	SNP	0.194	G
DFNB31	25861	genome.wustl.edu	37	9	117165559	117165559	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr9:117165559C>A	ENST00000362057.3	-	11	2647	c.2479G>T	c.(2479-2481)Ggc>Tgc	p.G827C	DFNB31_ENST00000374059.3_Missense_Mutation_p.G476C|DFNB31_ENST00000265134.6_Missense_Mutation_p.G444C	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	827	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATGGCGATGCCCAGGGTGGCC	0.612																																																0			9											53.0	58.0	56.0					9																	117165559		2203	4300	6503	116205380	SO:0001583	missense	25861			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.2479G>T	9.37:g.117165559C>A	ENSP00000354623:p.Gly827Cys		116205380	A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228	p.G827C	ENST00000362057.3	37	c.2479	CCDS6806.1	9	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166133	0.78339	.	.	ENSG00000095397	ENST00000265134;ENST00000374059;ENST00000362057	D;D;D	0.81659	-1.52;-1.52;-1.52	4.96	4.96	0.65561	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	D	0.93674	0.7979	H	0.97365	3.99	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96063	0.9040	10	0.87932	D	0	-28.0327	18.2113	0.89871	0.0:1.0:0.0:0.0	.	826;827;476	B9EGE6;Q9P202;Q9P202-4	.;WHRN_HUMAN;.	C	444;476;827	ENSP00000265134:G444C;ENSP00000363172:G476C;ENSP00000354623:G827C	ENSP00000265134:G444C	G	-	1	0	DFNB31	116205380	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	7.212000	0.77941	2.287000	0.76781	0.655000	0.94253	GGC	-	superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228		0.612	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNB31	protein_coding	OTTHUMT00000053776.2	C	NM_015404		116205380	-1	no_errors	NM_015404	genbank	human	validated	54_36p	missense	SNP	1.000	A
SIK3	23387	genome.wustl.edu	37	11	116824810	116824810	+	Missense_Mutation	SNP	T	T	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr11:116824810T>G	ENST00000292055.4	-	3	265	c.230A>C	c.(229-231)gAa>gCa	p.E77A	SIK3_ENST00000375300.1_Missense_Mutation_p.E135A|SIK3_ENST00000542607.1_Missense_Mutation_p.E77A|SIK3_ENST00000446921.2_Missense_Mutation_p.E135A|SIK3_ENST00000434315.2_5'UTR|SIK3_ENST00000375288.1_5'UTR	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	77	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						AATCATCCGTTCTGTCTCCAT	0.398																																																0			11											134.0	111.0	119.0					11																	116824810		2201	4296	6497	116330020	SO:0001583	missense	23387			AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.230A>C	11.37:g.116824810T>G	ENSP00000292055:p.Glu77Ala		116330020	A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.E77A	ENST00000292055.4	37	c.230	CCDS8379.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.9|25.9	4.684961|4.684961	0.88639|0.88639	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000375300;ENST00000292055;ENST00000542607|ENST00000445177;ENST00000446921;ENST00000413553	T;T;T|.	0.25749|.	1.78;1.78;1.78|.	5.36|5.36	5.36|5.36	0.76844|0.76844	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.41712|.	U|.	0.000831|.	T|T	0.59797|0.59797	0.2220|0.2220	L|L	0.39467|0.39467	1.215|1.215	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.991;0.997|.	D;D|.	0.72982|.	0.979;0.969|.	T|T	0.56535|0.56535	-0.7963|-0.7963	10|5	0.66056|.	D|.	0.02|.	.|.	15.655|15.655	0.77126|0.77126	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	77;77|.	A1A5A8;Q9Y2K2|.	.;SIK3_HUMAN|.	A|S	135;77;77|128;99;37	ENSP00000364449:E135A;ENSP00000292055:E77A;ENSP00000438108:E77A|.	ENSP00000292055:E77A|.	E|R	-|-	2|3	0|2	SIK3|SIK3	116330020|116330020	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.655000|7.655000	0.83696|0.83696	2.173000|2.173000	0.68751|0.68751	0.533000|0.533000	0.62120|0.62120	GAA|AGA	-	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase		0.398	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA0999	protein_coding		T	NM_025164		116330020	-1	no_errors	NM_025164	genbank	human	validated	54_36p	missense	SNP	1.000	G
BCL9L	283149	genome.wustl.edu	37	11	118773562	118773562	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr11:118773562C>A	ENST00000334801.3	-	6	1854	c.890G>T	c.(889-891)gGc>gTc	p.G297V	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	297	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CTGCGGGGTGCCTGCTGACGG	0.701																																																0			11											7.0	9.0	8.0					11																	118773562		2128	4210	6338	118278772	SO:0001583	missense	283149			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.890G>T	11.37:g.118773562C>A	ENSP00000335320:p.Gly297Val		118278772	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	PatternScan_RIBOSOMAL_S6E	p.G297V	ENST00000334801.3	37	c.890	CCDS8403.1	11	.	.	.	.	.	.	.	.	.	.	C	14.03	2.412966	0.42817	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	T	0.65364	-0.15	3.87	3.87	0.44632	.	0.300767	0.23910	N	0.043349	T	0.60521	0.2275	N	0.24115	0.695	0.50813	D	0.999891	D;D	0.61080	0.989;0.982	P;P	0.61132	0.884;0.769	T	0.63386	-0.6649	10	0.72032	D	0.01	.	8.4408	0.32814	0.0:0.8788:0.0:0.1212	.	292;297	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	V	297;260;297;297	ENSP00000335320:G297V	ENSP00000335320:G297V	G	-	2	0	BCL9L	118278772	0.007000	0.16637	1.000000	0.80357	0.203000	0.24098	0.901000	0.28445	2.007000	0.58848	0.305000	0.20034	GGC	-	NULL		0.701	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	protein_coding	OTTHUMT00000389653.1	C	NM_182557		118278772	-1	no_errors	NM_182557	genbank	human	validated	54_36p	missense	SNP	0.957	A
HPD	3242	genome.wustl.edu	37	12	122281642	122281642	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr12:122281642C>G	ENST00000289004.4	-	12	963	c.928G>C	c.(928-930)Gtg>Ctg	p.V310L	HPD_ENST00000543163.1_Missense_Mutation_p.V271L	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	310					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TTCTCCTTCACCTTGATCTTG	0.517																																																0			12											161.0	132.0	142.0					12																	122281642		2203	4300	6503	120766025	SO:0001583	missense	3242			BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"""glyoxalase domain containing 3"""	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.928G>C	12.37:g.122281642C>G	ENSP00000289004:p.Val310Leu		120766025	A8K461|B3KQ63|Q13234	Missense_Mutation	SNP	superfamily_Glyoxalase/Bleomycin resistance protein/Dihydroxybiphenyl dioxygenase,HMMPfam_Glyoxalase	p.V310L	ENST00000289004.4	37	c.928	CCDS9224.1	12	.	.	.	.	.	.	.	.	.	.	C	9.954	1.220992	0.22457	.	.	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	T;T	0.62364	0.03;0.03	4.39	4.39	0.52855	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.129222	0.52532	D	0.000070	T	0.55337	0.1914	L	0.49571	1.57	0.80722	D	1	B	0.09022	0.002	B	0.12837	0.008	T	0.52533	-0.8563	10	0.13108	T	0.6	-28.1461	16.7761	0.85550	0.0:1.0:0.0:0.0	.	310	P32754	HPPD_HUMAN	L	310;307;271	ENSP00000289004:V310L;ENSP00000441677:V271L	ENSP00000289004:V310L	V	-	1	0	HPD	120766025	0.996000	0.38824	0.972000	0.41901	0.797000	0.45037	2.894000	0.48640	2.284000	0.76573	0.561000	0.74099	GTG	-	superfamily_Glyoxalase/Bleomycin resistance protein/Dihydroxybiphenyl dioxygenase,HMMPfam_Glyoxalase		0.517	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HPD	protein_coding	OTTHUMT00000402184.1	C	NM_002150		120766025	-1	no_errors	NM_002150	genbank	human	validated	54_36p	missense	SNP	0.995	G
SORL1	6653	genome.wustl.edu	37	11	121428091	121428091	+	Silent	SNP	T	T	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr11:121428091T>C	ENST00000260197.7	+	19	2769	c.2640T>C	c.(2638-2640)gcT>gcC	p.A880A		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	880					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GTCCCAGGGCTCTGGTCCTCG	0.502																																																0			11											151.0	125.0	133.0					11																	121428091		2203	4299	6502	120933301	SO:0001819	synonymous_variant	6653			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.2640T>C	11.37:g.121428091T>C			120933301	B2RNX7|Q92856	Silent	SNP	superfamily_Oligoxyloglucan reducing end-specific cellobiohydrolase,HMMSmart_SM00602,superfamily_YWTD domain,HMMSmart_SM00135,HMMPfam_Ldl_recept_b,PatternScan_EGF_2,superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,PatternScan_COPPER_BLUE,superfamily_Fibronectin type III,HMMPfam_fn3,HMMSmart_SM00060	p.A880	ENST00000260197.7	37	c.2640	CCDS8436.1	11																																																																																			-	superfamily_YWTD domain,HMMPfam_Ldl_recept_b,HMMSmart_SM00135		0.502	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	protein_coding	OTTHUMT00000387626.2	T	NM_003105		120933301	+1	no_errors	NM_003105	genbank	human	reviewed	54_36p	silent	SNP	0.971	C
SEC23IP	11196	genome.wustl.edu	37	10	121658043	121658043	+	Missense_Mutation	SNP	A	A	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr10:121658043A>C	ENST00000369075.3	+	2	340	c.268A>C	c.(268-270)Agt>Cgt	p.S90R	SEC23IP_ENST00000543134.1_Intron	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	90	Interaction with SEC23A.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		ATCAAGCAGCAGTGATCCTTT	0.473																																																0			10											189.0	171.0	177.0					10																	121658043		2203	4300	6503	121648033	SO:0001583	missense	11196			AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.268A>C	10.37:g.121658043A>C	ENSP00000358071:p.Ser90Arg		121648033	D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1,HMMPfam_DDHD	p.S90R	ENST00000369075.3	37	c.268	CCDS7618.1	10	.	.	.	.	.	.	.	.	.	.	A	15.07	2.724027	0.48728	.	.	ENSG00000107651	ENST00000369075	D	0.97041	-4.22	5.27	4.14	0.48551	.	0.335640	0.39341	N	0.001395	D	0.95156	0.8430	M	0.64997	1.995	0.80722	D	1	B	0.25351	0.124	B	0.26310	0.068	D	0.92403	0.5931	10	0.59425	D	0.04	-2.0434	9.4792	0.38891	0.9105:0.0:0.0895:0.0	.	90	Q9Y6Y8	S23IP_HUMAN	R	90	ENSP00000358071:S90R	ENSP00000358071:S90R	S	+	1	0	SEC23IP	121648033	1.000000	0.71417	0.879000	0.34478	0.983000	0.72400	2.378000	0.44309	0.872000	0.35775	0.533000	0.62120	AGT	-	NULL		0.473	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC23IP	protein_coding	OTTHUMT00000050688.1	A			121648033	+1	no_errors	NM_007190	genbank	human	reviewed	54_36p	missense	SNP	0.999	C
OR8A1	390275	genome.wustl.edu	37	11	124440034	124440034	+	Missense_Mutation	SNP	T	T	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr11:124440034T>G	ENST00000284287.3	+	1	142	c.70T>G	c.(70-72)Tct>Gct	p.S24A		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	24					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		AGGAAATCACTCTACAGTGAC	0.517																																																0			11											74.0	71.0	72.0					11																	124440034		2201	4299	6500	123945244	SO:0001583	missense	390275			BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"""GPCR / Class A : Olfactory receptors"""	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.70T>G	11.37:g.124440034T>G	ENSP00000284287:p.Ser24Ala		123945244	Q6IEW7|Q96RC6	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.S24A	ENST00000284287.3	37	c.70	CCDS31712.1	11	.	.	.	.	.	.	.	.	.	.	T	12.89	2.073924	0.36566	.	.	ENSG00000196119	ENST00000284287	T	0.01414	4.92	5.08	5.08	0.68730	.	0.000000	0.44483	D	0.000454	T	0.06325	0.0163	M	0.82923	2.615	0.31564	N	0.657183	P	0.52842	0.956	P	0.56474	0.799	T	0.00953	-1.1502	10	0.87932	D	0	.	9.9921	0.41877	0.151:0.0:0.0:0.849	.	24	Q8NGG7	OR8A1_HUMAN	A	24	ENSP00000284287:S24A	ENSP00000284287:S24A	S	+	1	0	OR8A1	123945244	0.001000	0.12720	0.996000	0.52242	0.020000	0.10135	0.562000	0.23531	2.130000	0.65690	0.477000	0.44152	TCT	-	superfamily_SSF81321		0.517	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8A1	protein_coding	OTTHUMT00000387062.1	T	NM_001005194		123945244	+1	no_errors	NM_001005194	genbank	human	provisional	54_36p	missense	SNP	0.969	G
ROBO4	54538	genome.wustl.edu	37	11	124765553	124765553	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr11:124765553G>T	ENST00000306534.3	-	6	1321	c.836C>A	c.(835-837)tCt>tAt	p.S279Y	ROBO4_ENST00000533054.1_Missense_Mutation_p.S134Y|ROBO4_ENST00000526899.1_5'Flank	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	279	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGCCGTGTAAGATTGGGCAGG	0.662																																																0			11											36.0	44.0	41.0					11																	124765553		2195	4292	6487	124270763	SO:0001583	missense	54538			AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.836C>A	11.37:g.124765553G>T	ENSP00000304945:p.Ser279Tyr		124270763	A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III	p.S279Y	ENST00000306534.3	37	c.836	CCDS8455.1	11	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710268	0.68730	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.54675	0.56;0.56	5.49	4.38	0.52667	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.37623	N	0.002012	T	0.58581	0.2132	L	0.51422	1.61	0.28453	N	0.916266	D;D	0.67145	0.995;0.996	P;P	0.61201	0.885;0.862	T	0.53019	-0.8497	10	0.42905	T	0.14	.	7.8138	0.29247	0.0979:0.1689:0.7332:0.0	.	169;279	Q8WZ75-3;Q8WZ75	.;ROBO4_HUMAN	Y	279;169;134	ENSP00000304945:S279Y;ENSP00000437129:S134Y	ENSP00000304945:S279Y	S	-	2	0	ROBO4	124270763	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	2.157000	0.42320	2.575000	0.86900	0.561000	0.74099	TCT	-	HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III		0.662	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO4	protein_coding	OTTHUMT00000387111.1	G	NM_019055		124270763	-1	no_errors	NM_019055	genbank	human	validated	54_36p	missense	SNP	0.997	T
PRELID1P1	728666	genome.wustl.edu	37	6	126965323	126965323	+	RNA	SNP	A	A	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr6:126965323A>G	ENST00000567272.1	+	0	690									PRELI domain containing 1 pseudogene 1																		ACTTGTTGGGACAGCCAAGGA	0.547																																																0			6																																								127007016			728666					6q22.32	2012-04-23			ENSG00000217325	ENSG00000217325			43886	pseudogene	pseudogene							Standard	NG_022903		Approved				OTTHUMG00000015520		6.37:g.126965323A>G			127007016		RNA	SNP	-	NULL	ENST00000567272.1	37	NULL		6																																																																																			-	-		0.547	PRELID1P1-002	KNOWN	basic	processed_transcript	LOC728666	pseudogene	OTTHUMT00000436205.1	A	NG_022903		127007016	+1	no_errors	XR_015645	genbank	human	model	54_36p	rna	SNP	1.000	G
FBN2	2201	genome.wustl.edu	37	5	127697452	127697452	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr5:127697452C>T	ENST00000508053.1	-	25	3492	c.2518G>A	c.(2518-2520)Ggg>Agg	p.G840R	FBN2_ENST00000262464.4_Missense_Mutation_p.G840R|FBN2_ENST00000508989.1_Missense_Mutation_p.G807R			P35556	FBN2_HUMAN	fibrillin 2	840	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AACACATACCCTGGTGGGCAC	0.443																																																0			5											187.0	159.0	169.0					5																	127697452		2203	4300	6503	127725351	SO:0001583	missense	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2518G>A	5.37:g.127697452C>T	ENSP00000424571:p.Gly840Arg		127725351	B4DU01|Q59ES6	Missense_Mutation	SNP	superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Concanavalin A-like lectins/glucanases,superfamily_TB module/8-cys domain,HMMPfam_TB,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,PatternScan_ASX_HYDROXYL,HMMPfam_EGF,superfamily_Growth factor receptor domain	p.G840R	ENST00000508053.1	37	c.2518	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	C	33	5.203473	0.95033	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.92595	-3.07;-3.07;-3.07	4.79	4.79	0.61399	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	D	0.97420	0.9156	H	0.95260	3.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97996	1.0357	10	0.87932	D	0	.	19.1533	0.93499	0.0:1.0:0.0:0.0	.	807;840	D6RJI3;P35556	.;FBN2_HUMAN	R	840;840;807	ENSP00000262464:G840R;ENSP00000424571:G840R;ENSP00000425596:G807R	ENSP00000262464:G840R	G	-	1	0	FBN2	127725351	1.000000	0.71417	0.924000	0.36721	0.921000	0.55340	7.587000	0.82613	2.941000	0.99782	0.655000	0.94253	GGG	-	superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_EGF_2		0.443	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	protein_coding	OTTHUMT00000371618.2	C	NM_001999		127725351	-1	no_errors	NM_001999	genbank	human	reviewed	54_36p	missense	SNP	0.997	T
AFF4	27125	genome.wustl.edu	37	5	132234820	132234820	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr5:132234820G>A	ENST00000265343.5	-	9	1581	c.1202C>T	c.(1201-1203)aCa>aTa	p.T401I	AFF4_ENST00000378595.3_Missense_Mutation_p.T401I	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	401	Ser-rich.				spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTCGGCATTGTCTTATCACA	0.348																																					Ovarian(126;889 1733 2942 10745 11605)											0			5											58.0	60.0	59.0					5																	132234820		2203	4300	6503	132262719	SO:0001583	missense	27125			AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.1202C>T	5.37:g.132234820G>A	ENSP00000265343:p.Thr401Ile		132262719	B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	HMMPfam_AF-4	p.T401I	ENST00000265343.5	37	c.1202	CCDS4164.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.76|17.76	3.469688|3.469688	0.63625|0.63625	.|.	.|.	ENSG00000072364|ENSG00000072364	ENST00000425658|ENST00000265343;ENST00000378595	.|T;T	.|0.64438	.|-0.1;-0.1	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|0.045374	.|0.85682	.|D	.|0.000000	.|T	.|0.79221	.|0.4409	M|M	0.65498|0.65498	2.005|2.005	0.45046|0.45046	D|D	0.998068|0.998068	.|B;D	.|0.69078	.|0.4;0.997	.|B;D	.|0.79108	.|0.075;0.992	.|T	.|0.77869	.|-0.2427	.|10	.|0.52906	.|T	.|0.07	-12.6801|-12.6801	20.2956|20.2956	0.98549|0.98549	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|401;401	.|Q9UHB7-2;Q9UHB7	.|.;AFF4_HUMAN	X|I	97|401	.|ENSP00000265343:T401I;ENSP00000367858:T401I	.|ENSP00000265343:T401I	Q|T	-|-	1|2	0|0	AFF4|AFF4	132262719|132262719	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.728000|4.728000	0.62000|0.62000	2.805000|2.805000	0.96524|0.96524	0.460000|0.460000	0.39030|0.39030	CAA|ACA	-	HMMPfam_AF-4		0.348	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF4	protein_coding	OTTHUMT00000133049.1	G	NM_014423		132262719	-1	no_errors	NM_014423	genbank	human	validated	54_36p	missense	SNP	1.000	A
RALGDS	5900	genome.wustl.edu	37	9	135982607	135982607	+	Silent	SNP	C	C	T	rs376963822		TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr9:135982607C>T	ENST00000372050.3	-	7	1299	c.1278G>A	c.(1276-1278)ctG>ctA	p.L426L	RALGDS_ENST00000542690.1_Silent_p.L497L|RALGDS_ENST00000372062.3_Silent_p.L397L|RALGDS_ENST00000372047.3_Silent_p.L414L|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000393157.3_Silent_p.L425L|RALGDS_ENST00000393160.3_Silent_p.L371L	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	426	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TGGTGGGCGCCAGGTGCTCCT	0.612			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																Melanoma(189;762 2088 15384 21931 52515)		Dom	yes		9	9q34.3	5900	ral guanine nucleotide dissociation stimulator		L	0			9						C	,	1,4405	2.1+/-5.4	0,1,2202	94.0	83.0	87.0		1113,1278	3.5	1.0	9		87	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RALGDS	NM_001042368.1,NM_006266.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	371/860,426/915	135982607	1,13005	2203	4300	6503	134972428	SO:0001819	synonymous_variant	5900			AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.1278G>A	9.37:g.135982607C>T			134972428	B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Silent	SNP	superfamily_Ras GEF,HMMSmart_SM00229,HMMPfam_RasGEF_N,HMMSmart_SM00147,HMMPfam_RasGEF,PatternScan_RASGEF,superfamily_Ubiquitin-like,HMMPfam_RA,HMMSmart_SM00314	p.L426	ENST00000372050.3	37	c.1278	CCDS6959.1	9																																																																																			-	superfamily_Ras GEF,HMMSmart_SM00147,HMMPfam_RasGEF		0.612	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALGDS	protein_coding	OTTHUMT00000054837.1	C	NM_006266		134972428	-1	no_errors	NM_006266	genbank	human	validated	54_36p	silent	SNP	1.000	T
Unknown	0	genome.wustl.edu	37	6	135219083	135219083	+	IGR	SNP	G	G	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr6:135219083G>A								RP1-287H17.1 (190596 upstream) : ALDH8A1 (19444 downstream)																							GACCACAGCTGAATGCACAGC	0.517																																																0			6																																								135260776	SO:0001628	intergenic_variant	645175																															6.37:g.135219083G>A			135260776		RNA	SNP	-	NULL		37	NULL		6																																																																																			-	-	0	0.517					LOC645175			G			135260776	+1	pseudogene	XR_017268	genbank	human	model	54_36p	rna	SNP	1.000	A
CHRM2	1129	genome.wustl.edu	37	7	136699622	136699622	+	Missense_Mutation	SNP	T	T	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr7:136699622T>A	ENST00000445907.2	+	3	538	c.10T>A	c.(10-12)Tca>Aca	p.S4T	hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.S4T|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.S4T|CHRM2_ENST00000453373.1_Missense_Mutation_p.S4T|CHRM2_ENST00000401861.1_Missense_Mutation_p.S4T|CHRM2_ENST00000320658.5_Missense_Mutation_p.S4T|hsa-mir-490_ENST00000439694.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	4					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	AATGAATAACTCAACAAACTC	0.353																																																0			7											88.0	86.0	87.0					7																	136699622		2203	4300	6503	136350162	SO:0001583	missense	1129				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.10T>A	7.37:g.136699622T>A	ENSP00000399745:p.Ser4Thr		136350162	Q4VBK6|Q9P1X9	Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.S4T	ENST00000445907.2	37	c.10	CCDS5843.1	7	.	.	.	.	.	.	.	.	.	.	T	10.05	1.245270	0.22796	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12	5.33	5.33	0.75918	.	.	.	.	.	T	0.44435	0.1293	L	0.40543	1.245	0.42611	D	0.993312	B	0.32620	0.378	B	0.24006	0.05	T	0.40213	-0.9575	9	0.11182	T	0.66	.	15.3404	0.74290	0.0:0.0:0.0:1.0	.	4	P08172	ACM2_HUMAN	T	4	ENSP00000399745:S4T;ENSP00000415386:S4T;ENSP00000319984:S4T;ENSP00000380733:S4T;ENSP00000384937:S4T;ENSP00000384401:S4T	ENSP00000319984:S4T	S	+	1	0	CHRM2	136350162	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.586000	0.60984	2.024000	0.59613	0.477000	0.44152	TCA	-	superfamily_Family A G protein-coupled receptor-like		0.353	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM2	protein_coding	OTTHUMT00000341010.1	T			136350162	+1	no_errors	NM_000739	genbank	human	reviewed	54_36p	missense	SNP	0.997	A
DGKI	9162	genome.wustl.edu	37	7	137076016	137076016	+	Missense_Mutation	SNP	G	G	A	rs200049424		TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr7:137076016G>A	ENST00000288490.5	-	34	3148	c.3148C>T	c.(3148-3150)Cgt>Tgt	p.R1050C	DGKI_ENST00000446122.1_Missense_Mutation_p.R1032C|DGKI_ENST00000424189.2_Missense_Mutation_p.R1063C|DGKI_ENST00000453654.2_Missense_Mutation_p.R719C|DGKI_ENST00000494390.1_5'UTR	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	1050					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TAGTTCTGACGGCTTTCTAGG	0.478													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17631	0.0		0.0	False		,,,				2504	0.0															0			7											129.0	117.0	121.0					7																	137076016		2203	4300	6503	136726556	SO:0001583	missense	9162			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.3148C>T	7.37:g.137076016G>A	ENSP00000288490:p.Arg1050Cys		136726556	A4D1Q9|Q9NZ49	Missense_Mutation	SNP	PatternScan_ZF_DAG_PE_1,HMMSmart_C1,HMMPfam_C1_1,HMMPfam_DAGK_cat,HMMSmart_DAGKc,HMMPfam_DAGK_acc,HMMSmart_DAGKa,superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK	p.R1050C	ENST00000288490.5	37	c.3148	CCDS5845.1	7	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	17.21	3.331271	0.60853	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.34472	1.36;1.36;1.36	5.92	3.17	0.36434	.	0.317776	0.35615	N	0.003086	T	0.44435	0.1293	L	0.38175	1.15	0.48975	D	0.999739	D;B	0.76494	0.999;0.134	D;B	0.64877	0.93;0.023	T	0.28038	-1.0056	10	0.62326	D	0.03	.	9.8382	0.40982	0.2613:0.0:0.7387:0.0	.	719;1050	E9PFX6;O75912	.;DGKI_HUMAN	C	719;967;1053;1050;1032	ENSP00000392161:R719C;ENSP00000288490:R1050C;ENSP00000399131:R1032C	ENSP00000288490:R1050C	R	-	1	0	DGKI	136726556	1.000000	0.71417	0.972000	0.41901	0.993000	0.82548	2.443000	0.44881	0.425000	0.26087	-0.127000	0.14921	CGT	-	superfamily_ANK		0.478	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKI	protein_coding	OTTHUMT00000341286.3	G	NM_004717		136726556	-1	no_errors	NM_004717	genbank	human	reviewed	54_36p	missense	SNP	0.999	A
FCN2	2220	genome.wustl.edu	37	9	137774380	137774380	+	Missense_Mutation	SNP	A	A	G	rs146943969		TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr9:137774380A>G	ENST00000291744.6	+	2	119	c.109A>G	c.(109-111)Atg>Gtg	p.M37V	FCN2_ENST00000350339.2_Intron	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	37					complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		AGAGGTGAAGATGGTGGGCCT	0.592																																																0			9											78.0	79.0	79.0					9																	137774380		2203	4300	6503	136914201	SO:0001583	missense	2220			D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"""Fibrinogen C domain containing"""	3624	protein-coding gene	gene with protein product	"""hucolin"", ""collagen/fibrinogen domain-containing protein 2"", ""ficolin B"", ""serum lectin p35"", ""L-ficolin"""	601624	"""ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"""			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.109A>G	9.37:g.137774380A>G	ENSP00000291744:p.Met37Val		136914201	A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Missense_Mutation	SNP	HMMPfam_Collagen,HMMSmart_SM00186,HMMPfam_Fibrinogen_C,superfamily_Fibrinogen C-terminal domain-like,PatternScan_FIBRIN_AG_C_DOMAIN	p.M37V	ENST00000291744.6	37	c.109	CCDS6983.1	9	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.141838	0.00029	.	.	ENSG00000160339	ENST00000291744	T	0.44083	0.93	3.39	-4.96	0.03038	.	1.274830	0.06091	N	0.663692	T	0.11196	0.0273	N	0.01219	-0.95	0.32125	N	0.587496	B	0.02656	0.0	B	0.01281	0.0	T	0.41998	-0.9477	10	0.02654	T	1	.	5.2952	0.15749	0.4:0.2625:0.3376:0.0	.	37	Q15485	FCN2_HUMAN	V	37	ENSP00000291744:M37V	ENSP00000291744:M37V	M	+	1	0	FCN2	136914201	0.764000	0.28473	0.029000	0.17559	0.142000	0.21351	-0.295000	0.08298	-0.951000	0.03654	-1.558000	0.00888	ATG	-	NULL		0.592	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCN2	protein_coding	OTTHUMT00000054960.1	A	NM_004108		136914201	+1	no_errors	NM_004108	genbank	human	reviewed	54_36p	missense	SNP	0.415	G
KCNT1	57582	genome.wustl.edu	37	9	138642002	138642002	+	Missense_Mutation	SNP	T	T	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr9:138642002T>C	ENST00000263604.3	+	3	256	c.256T>C	c.(256-258)Ttc>Ctc	p.F86L	KCNT1_ENST00000491806.2_Missense_Mutation_p.F72L|KCNT1_ENST00000487664.1_Missense_Mutation_p.F57L|KCNT1_ENST00000298480.5_Missense_Mutation_p.F105L|KCNT1_ENST00000490355.2_Missense_Mutation_p.F86L|KCNT1_ENST00000488444.2_Missense_Mutation_p.F86L|KCNT1_ENST00000371757.2_Missense_Mutation_p.F105L|KCNT1_ENST00000486577.2_Missense_Mutation_p.F66L			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	86					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CAAGCTGTTCTTCATCAAAAA	0.607																																																0			9											78.0	65.0	69.0					9																	138642002		2203	4300	6503	137781823	SO:0001583	missense	57582			AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.256T>C	9.37:g.138642002T>C	ENSP00000263604:p.Phe86Leu		137781823	B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	superfamily_SSF81324,HMMPfam_Ion_trans_2,superfamily_NAD(P)-bd,HMMPfam_BK_channel_a	p.F105L	ENST00000263604.3	37	c.313		9	.	.	.	.	.	.	.	.	.	.	.	20.5	4.000150	0.74818	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000473941;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T;T	0.59906	1.22;0.99;0.98;0.23;1.13	4.18	4.18	0.49190	.	0.062995	0.64402	U	0.000004	T	0.60379	0.2264	M	0.75085	2.285	0.80722	D	1	B;B	0.27286	0.064;0.174	B;B	0.33254	0.048;0.16	T	0.64445	-0.6406	10	0.59425	D	0.04	-31.5342	12.7101	0.57083	0.0:0.0:0.0:1.0	.	105;57	B9EGP2;G5E9V0	.;.	L	57;105;105;52;66;72;86;86;86	ENSP00000417851:F57L;ENSP00000298480:F105L;ENSP00000360822:F105L;ENSP00000420764:F52L;ENSP00000263604:F86L	ENSP00000263604:F86L	F	+	1	0	KCNT1	137781823	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.713000	0.84693	1.670000	0.50864	0.459000	0.35465	TTC	-	NULL		0.607	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	KCNT1	protein_coding		T	NM_020822		137781823	+1	no_errors	NM_020822	genbank	human	provisional	54_36p	missense	SNP	1.000	C
PCDHB11	56125	genome.wustl.edu	37	5	140579941	140579941	+	Missense_Mutation	SNP	G	G	T	rs374892195		TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr5:140579941G>T	ENST00000354757.3	+	1	594	c.594G>T	c.(592-594)aaG>aaT	p.K198N	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	198	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTGGACAAGGCGCTGGATT	0.493																																																0			5											69.0	72.0	71.0					5																	140579941		2203	4300	6503	140560125	SO:0001583	missense	56125			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.594G>T	5.37:g.140579941G>T	ENSP00000346802:p.Lys198Asn		140560125	B4DSF7|Q2M223	Missense_Mutation	SNP	HMMPfam_Cadherin_2,superfamily_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin	p.K198N	ENST00000354757.3	37	c.594	CCDS4253.1	5	.	.	.	.	.	.	.	.	.	.	G	13.34	2.206728	0.39003	.	.	ENSG00000197479	ENST00000354757	T	0.57107	0.42	2.7	-3.01	0.05463	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.68742	0.3034	M	0.87900	2.915	0.09310	N	1	D	0.67145	0.996	D	0.76071	0.987	T	0.59495	-0.7444	9	0.72032	D	0.01	.	5.3935	0.16257	0.68:0.0:0.1582:0.1618	.	198	Q9Y5F2	PCDBB_HUMAN	N	198	ENSP00000346802:K198N	ENSP00000346802:K198N	K	+	3	2	PCDHB11	140560125	0.000000	0.05858	0.000000	0.03702	0.109000	0.19521	-2.533000	0.00942	-0.735000	0.04837	0.467000	0.42956	AAG	-	superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA		0.493	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	protein_coding	OTTHUMT00000251813.1	G	NM_018931		140560125	+1	no_errors	NM_018931	genbank	human	reviewed	54_36p	missense	SNP	0.006	T
PCDHB18	54660	genome.wustl.edu	37	5	140615491	140615491	+	RNA	SNP	C	C	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr5:140615491C>G	ENST00000526308.1	+	0	1554					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						CCCAAACCTCCTACACCCTGT	0.602																																																0			5																																								140595675			54660			AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140615491C>G			140595675	B3KTF8	Silent	SNP	HMMPfam_Cadherin_2,PatternScan_CADHERIN_1,superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA	p.S402	ENST00000526308.1	37	c.1206		5																																																																																			-	superfamily_Cadherin		0.602	PCDHB18-002	KNOWN	basic	processed_transcript	PCDHB18	pseudogene	OTTHUMT00000394776.1	C			140595675	+1	no_errors	ENST00000274705	ensembl	human	known	54_36p	silent	SNP	0.799	G
PRSS37	136242	genome.wustl.edu	37	7	141536936	141536936	+	Silent	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr7:141536936C>T	ENST00000350549.3	-	4	914	c.543G>A	c.(541-543)gtG>gtA	p.V181V	PRSS37_ENST00000438520.1_Silent_p.V181V	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	181	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				binding of sperm to zona pellucida (GO:0007339)|cell migration (GO:0016477)|protein maturation (GO:0051604)	extracellular region (GO:0005576)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						TGAATACTTTCACAAATTTCA	0.398																																																0			7											98.0	99.0	99.0					7																	141536936		2203	4300	6503	141183405	SO:0001819	synonymous_variant	136242				CCDS34764.1	7q34	2010-05-07			ENSG00000165076	ENSG00000165076		"""Serine peptidases / Serine peptidases"""	29211	protein-coding gene	gene with protein product							Standard	NM_001008270		Approved		uc003vws.2	A4D1T9	OTTHUMG00000157174	ENST00000350549.3:c.543G>A	7.37:g.141536936C>T			141183405	B2RPB5	Silent	SNP	PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys,HMMPfam_Trypsin	p.V181	ENST00000350549.3	37	c.543	CCDS34764.1	7																																																																																			-	HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys		0.398	PRSS37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC136242	protein_coding	OTTHUMT00000347763.1	C	NM_001008270		141183405	-1	no_errors	NM_001008270	genbank	human	predicted	54_36p	silent	SNP	0.702	T
CLCN1	1180	genome.wustl.edu	37	7	143027916	143027916	+	Missense_Mutation	SNP	A	A	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr7:143027916A>G	ENST00000343257.2	+	8	992	c.905A>G	c.(904-906)tAc>tGc	p.Y302C	CLCN1_ENST00000495612.1_3'UTR	NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	302					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GTTCGGAACTACTGGAGAGGA	0.552																																																0			7											164.0	130.0	142.0					7																	143027916		2203	4300	6503	142738038	SO:0001583	missense	1180			Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.905A>G	7.37:g.143027916A>G	ENSP00000339867:p.Tyr302Cys		142738038	A4D2H5|Q2M202	Missense_Mutation	SNP	superfamily_Clc chloride channel,HMMPfam_Voltage_CLC,superfamily_CBS-domain,HMMPfam_CBS	p.Y302C	ENST00000343257.2	37	c.905	CCDS5881.1	7	.	.	.	.	.	.	.	.	.	.	A	21.5	4.157064	0.78114	.	.	ENSG00000188037	ENST00000343257	D	0.94280	-3.39	4.57	4.57	0.56435	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.97374	0.9141	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98342	1.0539	10	0.87932	D	0	.	13.9361	0.64026	1.0:0.0:0.0:0.0	.	302	P35523	CLCN1_HUMAN	C	302	ENSP00000339867:Y302C	ENSP00000339867:Y302C	Y	+	2	0	CLCN1	142738038	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.304000	0.96190	1.696000	0.51158	0.372000	0.22366	TAC	-	superfamily_Clc chloride channel,HMMPfam_Voltage_CLC		0.552	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN1	protein_coding	OTTHUMT00000327420.1	A	NM_000083		142738038	+1	no_errors	NM_000083	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
PDE4DIP	9659	genome.wustl.edu	37	1	144994641	144994641	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr1:144994641C>G	ENST00000369354.3	-	1	280	c.91G>C	c.(91-93)Gag>Cag	p.E31Q	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E31Q|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.E168Q|PDE4DIP_ENST00000369347.4_Missense_Mutation_p.E31Q|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.E168Q|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E168Q|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.E31Q|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E97Q|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.E31Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	31					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGCATGCGCTCCTCCAGGAAG	0.592			T	PDGFRB	MPD																																		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0			1											166.0	144.0	151.0					1																	144994641		2203	4300	6503	143705998	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.91G>C	1.37:g.144994641C>G	ENSP00000358360:p.Glu31Gln		143705998	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	HMMPfam_Microtub_assoc	p.E31Q	ENST00000369354.3	37	c.91	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.492954	0.96339	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000530078;ENST00000534536;ENST00000369347;ENST00000369348;ENST00000531369	T;T;T;T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.78	5.78	0.91487	Spindle associated (1);	.	.	.	.	T	0.48909	0.1526	M	0.66506	2.035	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.997;1.0;0.994;1.0;0.999;1.0	D;D;D;D;D;D;D	0.91635	0.998;0.984;0.999;0.993;0.998;0.998;0.999	T	0.48399	-0.9039	9	0.87932	D	0	.	17.5005	0.87730	0.0:1.0:0.0:0.0	.	31;97;31;168;97;34;31	Q5VU43-7;Q5VU43-3;Q5VU43;E9PJ64;E9PQH9;E9PS60;Q5VU43-10	.;.;MYOME_HUMAN;.;.;.;.	Q	97;31;31;168;168;31;31;97;34;31;168;98	ENSP00000327209:E97Q;ENSP00000358360:E31Q;ENSP00000358363:E31Q;ENSP00000435654:E168Q;ENSP00000358366:E168Q;ENSP00000358357:E31Q;ENSP00000358355:E31Q;ENSP00000435920:E34Q;ENSP00000358353:E31Q;ENSP00000358354:E168Q;ENSP00000435616:E98Q	ENSP00000327209:E97Q	E	-	1	0	PDE4DIP	143705998	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.708000	0.84633	2.731000	0.93534	0.650000	0.86243	GAG	-	HMMPfam_Microtub_assoc		0.592	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	protein_coding	OTTHUMT00000038858.2	C	NM_022359		143705998	-1	no_errors	NM_014644	genbank	human	validated	54_36p	missense	SNP	1.000	G
ANKRD34A	284615	genome.wustl.edu	37	1	145474108	145474108	+	Silent	SNP	A	A	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr1:145474108A>T	ENST00000323397.4	+	4	2073	c.780A>T	c.(778-780)ccA>ccT	p.P260P	LIX1L_ENST00000369308.3_5'Flank|RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	260	Pro-rich.					cytoplasm (GO:0005737)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AACCAGTCCCACCCACTGAAG	0.632																																																0			1											48.0	55.0	53.0					1																	145474108		2203	4300	6503	144185465	SO:0001819	synonymous_variant	284615			AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"""Ankyrin repeat domain containing"""	27639	protein-coding gene	gene with protein product			"""ankyrin repeat domain 34"""	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.780A>T	1.37:g.145474108A>T			144185465	B3KSU3	Silent	SNP	HMMSmart_SM00248,HMMPfam_Ank,superfamily_Ankyrin repeat	p.P260	ENST00000323397.4	37	c.780	CCDS30829.1	1																																																																																			-	NULL		0.632	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD34A	protein_coding	OTTHUMT00000038512.1	A			144185465	+1	no_errors	NM_001039888	genbank	human	validated	54_36p	silent	SNP	0.162	T
ESR1	2099	genome.wustl.edu	37	6	152265553	152265553	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr6:152265553C>A	ENST00000206249.3	+	4	1368	c.1006C>A	c.(1006-1008)Ccc>Acc	p.P336T	ESR1_ENST00000427531.2_Missense_Mutation_p.P163T|ESR1_ENST00000338799.5_Missense_Mutation_p.P336T|ESR1_ENST00000443427.1_Missense_Mutation_p.P336T|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000440973.1_Missense_Mutation_p.P336T|ESR1_ENST00000482101.1_3'UTR|ESR1_ENST00000456483.2_Intron	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	336	Interaction with AKAP13.|Self-association.|Steroid-binding.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	TCCTACCAGACCCTTCAGTGA	0.552																																																0			6											111.0	102.0	105.0					6																	152265553		2203	4300	6503	152307246	SO:0001583	missense	2099			X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.1006C>A	6.37:g.152265553C>A	ENSP00000206249:p.Pro336Thr		152307246	Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	HMMPfam_Oest_recep,superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00399,HMMPfam_zf-C4,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep	p.P336T	ENST00000206249.3	37	c.1006	CCDS5234.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.67|16.67	3.187257|3.187257	0.57909|0.57909	.|.	.|.	ENSG00000091831|ENSG00000091831	ENST00000427531|ENST00000440973;ENST00000338799;ENST00000431219;ENST00000443427;ENST00000206249;ENST00000431590;ENST00000544394	.|D;D;D;D;D	.|0.96522	.|-4.04;-4.04;-4.04;-4.04;-4.04	5.66|5.66	5.66|5.66	0.87406|0.87406	.|Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98257|0.98257	0.9423|0.9423	M|M	0.85710|0.85710	2.77|2.77	0.80722|0.80722	D|D	1|1	.|B;D;P;P;B;B	.|0.71674	.|0.392;0.998;0.84;0.801;0.216;0.257	.|B;D;P;P;B;B	.|0.74348	.|0.302;0.983;0.713;0.573;0.201;0.302	D|D	0.98829|0.98829	1.0750|1.0750	5|10	.|0.87932	.|D	.|0	.|.	19.7375|19.7375	0.96212|0.96212	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|240;117;78;335;336;336	.|B0QYW6;E7EVR3;Q9Y2W8;A8KAF4;G4XH65;P03372	.|.;.;.;.;.;ESR1_HUMAN	E|T	240|336;336;117;336;336;264;163	.|ENSP00000405330:P336T;ENSP00000342630:P336T;ENSP00000387500:P336T;ENSP00000206249:P336T;ENSP00000445454:P163T	.|ENSP00000206249:P336T	D|P	+|+	3|1	2|0	ESR1|ESR1	152307246|152307246	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.306000|0.306000	0.27790|0.27790	7.818000|7.818000	0.86416|0.86416	2.680000|2.680000	0.91292|0.91292	0.655000|0.655000	0.94253|0.94253	GAC|CCC	-	superfamily_Nuclear receptor ligand-binding domain		0.552	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESR1	protein_coding	OTTHUMT00000043308.1	C			152307246	+1	no_errors	NM_000125	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
DAP3	7818	genome.wustl.edu	37	1	155701179	155701179	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr1:155701179C>G	ENST00000368336.5	+	10	1000	c.876C>G	c.(874-876)aaC>aaG	p.N292K	DAP3_ENST00000535183.1_Missense_Mutation_p.N251K|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000343043.3_Missense_Mutation_p.N292K|DAP3_ENST00000421487.2_Missense_Mutation_p.N258K|DAP3_ENST00000471642.2_Missense_Mutation_p.N251K	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	292					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TTGTTCACAACTTGAGGAAAA	0.368																																																0			1											147.0	138.0	141.0					1																	155701179		2203	4300	6503	153967803	SO:0001583	missense	7818			X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"""Mitochondrial ribosomal proteins / small subunits"""	2673	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S29"""	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.876C>G	1.37:g.155701179C>G	ENSP00000357320:p.Asn292Lys		153967803	B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Missense_Mutation	SNP	HMMPfam_DAP3	p.N292K	ENST00000368336.5	37	c.876	CCDS1120.1	1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.065243	0.55432	.	.	ENSG00000132676	ENST00000368336;ENST00000343043;ENST00000421487;ENST00000535183	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.1	-0.299	0.12808	.	0.097480	0.64402	D	0.000002	T	0.42539	0.1207	M	0.74881	2.28	0.48830	D	0.999713	P;P;P;D	0.55605	0.927;0.784;0.784;0.972	P;P;P;P	0.61275	0.744;0.744;0.744;0.886	T	0.41805	-0.9488	10	0.40728	T	0.16	-9.5439	9.1833	0.37154	0.0:0.4855:0.0:0.5145	.	251;258;258;292	B4DP59;B4DY62;E7EM60;P51398	.;.;.;RT29_HUMAN	K	292;292;258;251	ENSP00000357320:N292K;ENSP00000341692:N292K;ENSP00000412605:N258K;ENSP00000445003:N251K	ENSP00000341692:N292K	N	+	3	2	DAP3	153967803	0.807000	0.29009	0.520000	0.27837	0.768000	0.43524	-0.050000	0.11904	0.056000	0.16144	0.563000	0.77884	AAC	-	HMMPfam_DAP3		0.368	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAP3	protein_coding	OTTHUMT00000086042.1	C	NM_004632		153967803	+1	no_errors	NM_004632	genbank	human	reviewed	54_36p	missense	SNP	0.910	G
FCRL4	83417	genome.wustl.edu	37	1	157559023	157559023	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr1:157559023C>T	ENST00000271532.1	-	3	413	c.278G>A	c.(277-279)aGt>aAt	p.S93N	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	93	Ig-like C2-type 1.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CACAGGGTTACTTCGTGGGGA	0.502																																																0			1											73.0	77.0	76.0					1																	157559023		2203	4300	6503	155825647	SO:0001583	missense	83417			AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.278G>A	1.37:g.157559023C>T	ENSP00000271532:p.Ser93Asn		155825647	Q96PJ3|Q96RE0	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig	p.S93N	ENST00000271532.1	37	c.278	CCDS1166.1	1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184234	0.57800	.	.	ENSG00000163518	ENST00000271532	T	0.19806	2.12	4.2	4.2	0.49525	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.40385	N	0.001109	T	0.48132	0.1483	H	0.96175	3.78	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52238	-0.8602	10	0.72032	D	0.01	.	12.2383	0.54528	0.0:1.0:0.0:0.0	.	93	Q96PJ5	FCRL4_HUMAN	N	93	ENSP00000271532:S93N	ENSP00000271532:S93N	S	-	2	0	FCRL4	155825647	0.117000	0.22190	0.055000	0.19348	0.033000	0.12548	1.970000	0.40520	2.311000	0.77944	0.557000	0.71058	AGT	-	superfamily_Immunoglobulin,HMMSmart_SM00409		0.502	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRL4	protein_coding	OTTHUMT00000086180.1	C	NM_031282		155825647	-1	no_errors	NM_031282	genbank	human	provisional	54_36p	missense	SNP	0.043	T
FCRL3	115352	genome.wustl.edu	37	1	157666105	157666105	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr1:157666105G>C	ENST00000368184.3	-	7	1148	c.857C>G	c.(856-858)tCt>tGt	p.S286C	FCRL3_ENST00000368186.5_Missense_Mutation_p.S286C|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	286	Ig-like C2-type 4.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					ATTCACATTAGACACAGGGAC	0.527																																																0			1											72.0	70.0	71.0					1																	157666105		2203	4300	6503	155932729	SO:0001583	missense	115352			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.857C>G	1.37:g.157666105G>C	ENSP00000357167:p.Ser286Cys		155932729	A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	superfamily_Immunoglobulin,PatternScan_N6_MTASE,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig	p.S286C	ENST00000368184.3	37	c.857	CCDS1167.1	1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453039	0.43531	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.53423	0.62;0.62	5.22	5.22	0.72569	Immunoglobulin-like (1);	0.474951	0.16711	N	0.202670	T	0.69333	0.3099	M	0.93375	3.41	0.28599	N	0.909244	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.79784	0.984;0.971;0.993	T	0.68845	-0.5301	10	0.56958	D	0.05	.	14.2682	0.66135	0.0:0.0:1.0:0.0	.	286;191;286	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	C	286	ENSP00000357169:S286C;ENSP00000357167:S286C	ENSP00000292392:S286C	S	-	2	0	FCRL3	155932729	1.000000	0.71417	0.997000	0.53966	0.024000	0.10985	4.547000	0.60712	2.434000	0.82447	0.561000	0.74099	TCT	-	superfamily_Immunoglobulin		0.527	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	FCRL3	protein_coding	OTTHUMT00000051419.2	G	NM_052939		155932729	-1	no_errors	NM_052939	genbank	human	reviewed	54_36p	missense	SNP	0.954	C
GRIA2	2891	genome.wustl.edu	37	4	158257019	158257019	+	Missense_Mutation	SNP	T	T	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr4:158257019T>A	ENST00000264426.9	+	10	1742	c.1463T>A	c.(1462-1464)cTt>cAt	p.L488H	GRIA2_ENST00000296526.7_Missense_Mutation_p.L488H|GRIA2_ENST00000449365.1_Missense_Mutation_p.L441H|GRIA2_ENST00000507898.1_Missense_Mutation_p.L441H|GRIA2_ENST00000393815.2_Missense_Mutation_p.L441H	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	488					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GTTGGAGAACTTGTATATGGG	0.403																																																0			4											154.0	140.0	145.0					4																	158257019		2203	4300	6503	158476469	SO:0001583	missense	2891				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1463T>A	4.37:g.158257019T>A	ENSP00000264426:p.Leu488His		158476469	A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	superfamily_SSF53822,HMMPfam_ANF_receptor,superfamily_SSF53850,HMMSmart_PBPe,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan	p.L488H	ENST00000264426.9	37	c.1463	CCDS43274.1	4	.	.	.	.	.	.	.	.	.	.	T	20.7	4.038506	0.75617	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07	5.86	5.86	0.93980	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.95395	0.8505	H	0.98005	4.125	0.80722	D	1	D;D;D	0.76494	0.992;0.999;0.995	D;D;P	0.71414	0.913;0.973;0.879	D	0.97081	0.9784	10	0.87932	D	0	.	16.5602	0.84551	0.0:0.0:0.0:1.0	.	488;488;441	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	H	441;441;488;488;441	ENSP00000426845:L441H;ENSP00000377403:L441H;ENSP00000296526:L488H;ENSP00000264426:L488H;ENSP00000389837:L441H	ENSP00000264426:L488H	L	+	2	0	GRIA2	158476469	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.367000	0.80283	0.528000	0.53228	CTT	-	superfamily_SSF53850,HMMSmart_PBPe,HMMPfam_Lig_chan-Glu_bd		0.403	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA2	protein_coding	OTTHUMT00000258367.2	T			158476469	+1	no_errors	NM_000826	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
IL12A-AS1	101928376	genome.wustl.edu	37	3	159819580	159819580	+	RNA	SNP	G	G	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr3:159819580G>A	ENST00000497452.1	-	0	517									IL12A antisense RNA 1																		CATCTTGACCGCATTGTGAAG	0.433																																																0			3																																								161302274			647076			AK097161		3q25.33	2013-09-02			ENSG00000244040	ENSG00000244040		"""Long non-coding RNAs"""	49094	non-coding RNA	RNA, long non-coding							Standard	NR_108088		Approved				OTTHUMG00000158951		3.37:g.159819580G>A			161302274		RNA	SNP	-	NULL	ENST00000497452.1	37	NULL		3																																																																																			-	-		0.433	IL12A-AS1-001	KNOWN	basic	antisense	BRD7P2	antisense	OTTHUMT00000352647.1	G			161302274	+1	pseudogene	XR_017374	genbank	human	model	54_36p	rna	SNP	0.701	A
LRP2	4036	genome.wustl.edu	37	2	170062940	170062940	+	Silent	SNP	A	A	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr2:170062940A>G	ENST00000263816.3	-	39	7575	c.7290T>C	c.(7288-7290)agT>agC	p.S2430S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2430					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AGATTCTATCACTTACACTGT	0.428																																																0			2											86.0	89.0	88.0					2																	170062940		2203	4300	6503	169771186	SO:0001819	synonymous_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7290T>C	2.37:g.170062940A>G			169771186	O00711|Q16215	Silent	SNP	superfamily_LDL_rcpt_classA_cys-rich,HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,HMMSmart_EGF,superfamily_Grow_fac_recept,PatternScan_EGF_2,superfamily_SSF63825,HMMSmart_LY,HMMPfam_Ldl_recept_b,superfamily_SSF57196,HMMPfam_EGF,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,PatternScan_ASX_HYDROXYL,PatternScan_EGF_1	p.S2430	ENST00000263816.3	37	c.7290	CCDS2232.1	2																																																																																			-	superfamily_SSF63825,HMMSmart_LY		0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	protein_coding	OTTHUMT00000255231.2	A	NM_004525		169771186	-1	no_errors	NM_004525	genbank	human	validated	54_36p	silent	SNP	0.815	G
MYOC	4653	genome.wustl.edu	37	1	171621198	171621198	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr1:171621198C>T	ENST00000037502.6	-	1	625	c.554G>A	c.(553-555)tGt>tAt	p.C185Y		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	185					bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GGTCTGGGGACACTGGCCCCT	0.572																																																0			1											170.0	183.0	178.0					1																	171621198		2203	4300	6503	169887821	SO:0001583	missense	4653			BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.554G>A	1.37:g.171621198C>T	ENSP00000037502:p.Cys185Tyr		169887821	B2RD84|O00620|Q7Z6Q9	Missense_Mutation	SNP	HMMPfam_OLF,HMMSmart_SM00284	p.C185Y	ENST00000037502.6	37	c.554	CCDS1297.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016913	0.75161	.	.	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000536591;ENST00000537133	D	0.85955	-2.05	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.89873	0.6841	M	0.77103	2.36	0.58432	D	0.999998	D;D	0.89917	0.995;1.0	P;D	0.63703	0.903;0.917	D	0.89208	0.3562	10	0.45353	T	0.12	.	15.4284	0.75072	0.0:1.0:0.0:0.0	.	127;185	B4DV44;Q99972	.;MYOC_HUMAN	Y	185;138;118;185	ENSP00000037502:C185Y	ENSP00000037502:C185Y	C	-	2	0	MYOC	169887821	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	3.592000	0.53993	2.726000	0.93360	0.655000	0.94253	TGT	-	NULL		0.572	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOC	protein_coding	OTTHUMT00000084178.2	C	NM_000261		169887821	-1	no_errors	NM_000261	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
PDK1	5163	genome.wustl.edu	37	2	173431632	173431632	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr2:173431632C>G	ENST00000282077.3	+	6	922	c.740C>G	c.(739-741)tCt>tGt	p.S247C	PDK1_ENST00000544863.1_Missense_Mutation_p.S92C|PDK1_ENST00000543905.1_Missense_Mutation_p.S171C|PDK1_ENST00000410055.1_Missense_Mutation_p.S247C|PDK1_ENST00000392571.2_Missense_Mutation_p.S267C			Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	247	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cell proliferation (GO:0008283)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			TATATTAACTCTCCCGAACTA	0.303									Autosomal Dominant Polycystic Kidney Disease																																							0			2											152.0	152.0	152.0					2																	173431632		2203	4300	6503	173139878	SO:0001583	missense	5163	Familial Cancer Database	ADPKD	L42450	CCDS2250.1, CCDS63059.1	2q31.1	2008-05-23	2005-11-16		ENSG00000152256	ENSG00000152256			8809	protein-coding gene	gene with protein product		602524	"""pyruvate dehydrogenase kinase, isoenzyme 1"""			7499431	Standard	NR_103731		Approved		uc002uhs.3	Q15118	OTTHUMG00000132285	ENST00000282077.3:c.740C>G	2.37:g.173431632C>G	ENSP00000282077:p.Ser247Cys		173139878	B2R6T1|B7Z937|D3DPD8|E9PD65|Q308M4	Missense_Mutation	SNP	superfamily_alpha-ketoacid dehydrogenase kinase N-terminal domain,HMMPfam_BCDHK_Adom3,superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase,HMMPfam_HATPase_c,HMMSmart_SM00387	p.S247C	ENST00000282077.3	37	c.740	CCDS2250.1	2	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190830	0.58017	.	.	ENSG00000152256	ENST00000543905;ENST00000544863;ENST00000282077;ENST00000392571;ENST00000410055;ENST00000416991	T;T;T;T;T;T	0.65364	0.85;-0.15;1.17;1.16;1.17;-0.15	5.4	5.4	0.78164	ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.71508	0.3348	M	0.71920	2.185	0.80722	D	1	P;B	0.46578	0.88;0.109	P;B	0.51135	0.66;0.092	T	0.74743	-0.3562	10	0.62326	D	0.03	-18.0397	15.5207	0.75862	0.0:0.8615:0.1384:0.0	.	247;267	Q15118;E9PD65	PDK1_HUMAN;.	C	171;92;247;267;247;165	ENSP00000438567:S171C;ENSP00000437502:S92C;ENSP00000282077:S247C;ENSP00000376352:S267C;ENSP00000386985:S247C;ENSP00000399160:S165C	ENSP00000282077:S247C	S	+	2	0	PDK1	173139878	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.844000	0.62846	2.535000	0.85469	0.655000	0.94253	TCT	-	superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase		0.303	PDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDK1	protein_coding	OTTHUMT00000255380.3	C	NM_002610		173139878	+1	no_errors	NM_002610	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
FGFR4	2264	genome.wustl.edu	37	5	176517632	176517632	+	Silent	SNP	G	G	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr5:176517632G>A	ENST00000292408.4	+	3	578	c.333G>A	c.(331-333)caG>caA	p.Q111Q	FGFR4_ENST00000393648.2_Silent_p.Q111Q|FGFR4_ENST00000393637.1_Silent_p.Q111Q|FGFR4_ENST00000292410.3_Silent_p.Q111Q|FGFR4_ENST00000502906.1_Silent_p.Q111Q	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	111	Ig-like C2-type 1.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	TCGTCCTGCAGAATCTCACCT	0.587										TSP Lung(9;0.080)																																						0			5											57.0	55.0	56.0					5																	176517632		2203	4300	6503	176450238	SO:0001819	synonymous_variant	2264			AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.333G>A	5.37:g.176517632G>A			176450238	G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Silent	SNP	superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_I-set,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR	p.Q111	ENST00000292408.4	37	c.333	CCDS4410.1	5																																																																																			-	HMMSmart_SM00409		0.587	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGFR4	protein_coding	OTTHUMT00000253410.1	G			176450238	+1	no_errors	NM_002011	genbank	human	reviewed	54_36p	silent	SNP	0.889	A
ANGPTL1	9068	genome.wustl.edu	37	1	178834753	178834753	+	Silent	SNP	G	G	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr1:178834753G>A	ENST00000234816.2	-	3	606	c.159C>T	c.(157-159)ttC>ttT	p.F53F	ANGPTL1_ENST00000367629.1_Silent_p.F53F|RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000367634.2_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	53					transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						CAGGTACCAGGAATGTGTATG	0.413																																																0			1											239.0	177.0	198.0					1																	178834753		2203	4300	6503	177101376	SO:0001819	synonymous_variant	9068			AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"""Fibrinogen C domain containing"""	489	protein-coding gene	gene with protein product	"""angioarrestin"""	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.159C>T	1.37:g.178834753G>A			177101376	Q5T5Z5	Silent	SNP	superfamily_Fibrinogen_a/b/g_C,HMMSmart_FBG,HMMPfam_Fibrinogen_C,PatternScan_FIBRIN_AG_C_DOMAIN	p.F53	ENST00000234816.2	37	c.159	CCDS1327.1	1																																																																																			-	NULL		0.413	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL1	protein_coding	OTTHUMT00000084924.1	G	NM_004673		177101376	-1	no_errors	NM_004673	genbank	human	reviewed	54_36p	silent	SNP	0.991	A
MASP1	5648	genome.wustl.edu	37	3	186971048	186971048	+	Missense_Mutation	SNP	G	G	C	rs544747775		TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr3:186971048G>C	ENST00000337774.5	-	6	1189	c.800C>G	c.(799-801)cCc>cGc	p.P267R	MASP1_ENST00000169293.6_Missense_Mutation_p.P267R|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000296280.6_Missense_Mutation_p.P267R|MASP1_ENST00000392470.2_Missense_Mutation_p.P241R|MASP1_ENST00000392472.2_Missense_Mutation_p.P154R	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	267	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.|Interaction with FCN2.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GGTGCTGATGGGTTCTGGGGC	0.512																																																0			3											197.0	209.0	205.0					3																	186971048		2203	4300	6503	188453742	SO:0001583	missense	5648			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.800C>G	3.37:g.186971048G>C	ENSP00000336792:p.Pro267Arg		188453742	A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	HMMSmart_CUB,HMMPfam_CUB,superfamily_CUB,superfamily_SSF57196,PatternScan_EGF_CA,HMMSmart_EGF_CA,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2,superfamily_Complement_control_module,HMMPfam_Sushi,HMMSmart_CCP,superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_SER	p.P267R	ENST00000337774.5	37	c.800	CCDS33907.1	3	.	.	.	.	.	.	.	.	.	.	G	6.109	0.388437	0.11581	.	.	ENSG00000127241	ENST00000337774;ENST00000296280;ENST00000392472;ENST00000541896;ENST00000169293;ENST00000392470	T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26	5.63	0.488	0.16848	CUB (5);	0.429876	0.25227	N	0.032184	T	0.06371	0.0164	N	0.17312	0.475	0.26941	N	0.966252	B;B;B;B;B	0.13145	0.0;0.001;0.003;0.0;0.007	B;B;B;B;B	0.14578	0.001;0.002;0.004;0.001;0.011	T	0.30851	-0.9964	10	0.09338	T	0.73	.	1.3587	0.02187	0.1604:0.2585:0.3522:0.2289	.	241;267;154;267;267	F8W876;P48740-3;P48740-4;P48740-2;P48740	.;.;.;.;MASP1_HUMAN	R	267;267;154;154;267;241	ENSP00000336792:P267R;ENSP00000296280:P267R;ENSP00000376264:P154R;ENSP00000169293:P267R;ENSP00000376262:P241R	ENSP00000169293:P267R	P	-	2	0	MASP1	188453742	0.005000	0.15991	0.998000	0.56505	0.993000	0.82548	0.411000	0.21115	0.409000	0.25649	0.655000	0.94253	CCC	-	superfamily_CUB,HMMPfam_CUB,HMMSmart_CUB		0.512	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP1	protein_coding	OTTHUMT00000344262.1	G	NM_001879		188453742	-1	no_errors	NM_139125	genbank	human	reviewed	54_36p	missense	SNP	0.793	C
CDC73	79577	genome.wustl.edu	37	1	193099331	193099331	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr1:193099331C>G	ENST00000367435.3	+	3	449	c.265C>G	c.(265-267)Cct>Gct	p.P89A		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	89					cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						GGTTAGAAGACCTGATCGAAA	0.299																																																0			1											133.0	137.0	136.0					1																	193099331		2203	4300	6503	191365954	SO:0001583	missense	79577			AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.265C>G	1.37:g.193099331C>G	ENSP00000356405:p.Pro89Ala		191365954	A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	HMMPfam_CDC73	p.P89A	ENST00000367435.3	37	c.265	CCDS1382.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.059644	0.93846	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	D	0.85484	-1.99	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.91831	0.7415	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.88490	0.3075	10	0.15952	T	0.53	-17.4468	19.6662	0.95894	0.0:1.0:0.0:0.0	.	89	Q6P1J9	CDC73_HUMAN	A	89	ENSP00000356405:P89A	ENSP00000356405:P89A	P	+	1	0	CDC73	191365954	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.721000	0.84768	2.649000	0.89929	0.561000	0.74099	CCT	-	NULL		0.299	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC73	protein_coding	OTTHUMT00000086696.2	C	NM_024529		191365954	+1	no_errors	NM_024529	genbank	human	validated	54_36p	missense	SNP	1.000	G
STAT4	6775	genome.wustl.edu	37	2	191898662	191898662	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr2:191898662G>T	ENST00000392320.2	-	19	2004	c.1690C>A	c.(1690-1692)Cac>Aac	p.H564N	AC067945.4_ENST00000456176.1_RNA|STAT4_ENST00000470708.1_5'Flank|STAT4_ENST00000358470.4_Missense_Mutation_p.H564N	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	564					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GGAAGAATGTGTTTCTTAATT	0.313																																																0			2											131.0	138.0	136.0					2																	191898662		2203	4297	6500	191606907	SO:0001583	missense	6775				CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.1690C>A	2.37:g.191898662G>T	ENSP00000376134:p.His564Asn		191606907	Q96NZ6	Missense_Mutation	SNP	superfamily_STAT,HMMPfam_STAT_int,HMMPfam_STAT_alpha,HMMPfam_STAT_bind,superfamily_P53_like_DNA_bnd,superfamily_SSF55550,HMMPfam_SH2,HMMSmart_SH2	p.H564N	ENST00000392320.2	37	c.1690	CCDS2310.1	2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017088	0.75161	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	T;T	0.80304	-1.36;-1.36	5.65	5.65	0.86999	p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.047245	0.85682	D	0.000000	D	0.85427	0.5694	M	0.77712	2.385	0.80722	D	1	D;D;D	0.56521	0.976;0.976;0.976	P;P;P	0.51945	0.685;0.595;0.685	D	0.86897	0.2052	10	0.72032	D	0.01	-12.754	13.32	0.60428	0.0725:0.0:0.9275:0.0	.	473;564;564	Q53S87;B4DV04;Q14765	.;.;STAT4_HUMAN	N	564	ENSP00000351255:H564N;ENSP00000376134:H564N	ENSP00000351255:H564N	H	-	1	0	STAT4	191606907	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.292000	0.51772	2.821000	0.97095	0.650000	0.86243	CAC	-	superfamily_P53_like_DNA_bnd		0.313	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STAT4	protein_coding	OTTHUMT00000335586.1	G	NM_003151		191606907	-1	no_errors	NM_003151	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
RNPEP	6051	genome.wustl.edu	37	1	201965318	201965318	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr1:201965318G>C	ENST00000295640.4	+	4	824	c.781G>C	c.(781-783)Gag>Cag	p.E261Q	RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.5_ENST00000608886.1_RNA|RNPEP_ENST00000367286.3_Intron	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	261					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TGCTGCCAAGGAGGAGTACAA	0.493																																					GBM(19;39 479 7473 13131 19462)											0			1											207.0	190.0	196.0					1																	201965318		2203	4300	6503	200231941	SO:0001583	missense	6051			BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.781G>C	1.37:g.201965318G>C	ENSP00000295640:p.Glu261Gln		200231941	Q9BVM9|Q9H1D4|Q9NPT7	Missense_Mutation	SNP	superfamily_SSF63737,HMMPfam_Peptidase_M1,superfamily_SSF55486,PatternScan_ZINC_PROTEASE,superfamily_ARM-type_fold,HMMPfam_Leuk-A4-hydro_C	p.E261Q	ENST00000295640.4	37	c.781	CCDS1418.1	1	.	.	.	.	.	.	.	.	.	.	G	2.703	-0.270597	0.05716	.	.	ENSG00000176393	ENST00000295640;ENST00000447312;ENST00000449524	T;T;T	0.02656	4.21;4.21;4.21	5.3	-1.19	0.09585	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.510233	0.19866	N	0.104308	T	0.01558	0.0050	N	0.05306	-0.075	0.80722	D	1	B;B	0.12630	0.0;0.006	B;B	0.19666	0.01;0.026	T	0.55302	-0.8162	10	0.19147	T	0.46	-8.4612	11.0055	0.47631	0.5923:0.0:0.4077:0.0	.	269;261	Q7RU04;Q9H4A4	.;AMPB_HUMAN	Q	261;130;7	ENSP00000295640:E261Q;ENSP00000389602:E130Q;ENSP00000407614:E7Q	ENSP00000295640:E261Q	E	+	1	0	RNPEP	200231941	0.983000	0.35010	0.747000	0.31113	0.219000	0.24729	0.230000	0.17852	-0.563000	0.06078	-1.105000	0.02106	GAG	-	HMMPfam_Peptidase_M1,superfamily_SSF55486		0.493	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNPEP	protein_coding	OTTHUMT00000087345.1	G	NM_020216		200231941	+1	no_errors	NM_020216	genbank	human	validated	54_36p	missense	SNP	0.997	C
MDH1B	130752	genome.wustl.edu	37	2	207619911	207619911	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr2:207619911C>A	ENST00000374412.3	-	5	1007	c.732G>T	c.(730-732)gaG>gaT	p.E244D	MDH1B_ENST00000449792.1_Missense_Mutation_p.E146D|MDH1B_ENST00000454776.2_Missense_Mutation_p.E244D|MDH1B_ENST00000392214.2_Intron	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	244					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		GAGCATTTTTCTCTATCAGGT	0.507																																					Pancreas(76;29 1355 28675 37177 51207)											0			2											87.0	81.0	83.0					2																	207619911		2203	4300	6503	207328156	SO:0001583	missense	130752				CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.732G>T	2.37:g.207619911C>A	ENSP00000363533:p.Glu244Asp		207328156	A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	superfamily_NAD(P)-binding Rossmann-fold domains,superfamily_LDH C-terminal domain-like	p.E244D	ENST00000374412.3	37	c.732	CCDS33365.1	2	.	.	.	.	.	.	.	.	.	.	C	12.36	1.915256	0.33815	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776	T;T;T	0.08546	3.08;3.08;3.08	5.68	3.78	0.43462	NAD(P)-binding domain (1);	0.099426	0.64402	D	0.000001	T	0.07773	0.0195	L	0.49640	1.575	0.80722	D	1	B;B	0.17268	0.021;0.012	B;B	0.24541	0.054;0.024	T	0.20773	-1.0265	10	0.23302	T	0.38	-29.0857	5.0262	0.14385	0.1202:0.6276:0.1169:0.1353	.	244;244	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	D	244;146;244	ENSP00000363533:E244D;ENSP00000416577:E146D;ENSP00000389916:E244D	ENSP00000363533:E244D	E	-	3	2	MDH1B	207328156	0.982000	0.34865	0.836000	0.33094	0.009000	0.06853	0.184000	0.16939	1.530000	0.49136	0.650000	0.86243	GAG	-	superfamily_NAD(P)-binding Rossmann-fold domains		0.507	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDH1B	protein_coding	OTTHUMT00000256429.2	C	NM_001039845		207328156	-1	no_errors	NM_001039845	genbank	human	validated	54_36p	missense	SNP	1.000	A
IARS2	55699	genome.wustl.edu	37	1	220267775	220267775	+	Missense_Mutation	SNP	A	A	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr1:220267775A>G	ENST00000302637.5	+	1	321	c.217A>G	c.(217-219)Atg>Gtg	p.M73V	IARS2_ENST00000366922.1_Start_Codon_SNP_p.M1V	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	73					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GAGCTTCCCCATGAAGCTGCT	0.697																																																0			1											10.0	15.0	13.0					1																	220267775		2153	4212	6365	218334398	SO:0001583	missense	55699			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.217A>G	1.37:g.220267775A>G	ENSP00000303279:p.Met73Val		218334398	B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Missense_Mutation	SNP	superfamily_Nucleotidylyl transferase,HMMPfam_tRNA-synt_1,PatternScan_AA_TRNA_LIGASE_I,superfamily_ValRS/IleRS/LeuRS editing domain,superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases,HMMPfam_Anticodon_1,HMMPfam_zf-FPG_IleRS	p.M73V	ENST00000302637.5	37	c.217	CCDS1523.1	1	.	.	.	.	.	.	.	.	.	.	A	17.02	3.281315	0.59758	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	T;T	0.44083	2.08;0.93	4.28	4.28	0.50868	.	0.187133	0.56097	D	0.000028	T	0.46521	0.1397	M	0.89214	3.015	0.39121	D	0.961655	B	0.13145	0.007	B	0.09377	0.004	T	0.56679	-0.7939	10	0.87932	D	0	-0.0428	6.5318	0.22332	0.8513:0.0:0.1487:0.0	.	73	Q9NSE4	SYIM_HUMAN	V	1;73	ENSP00000355889:M1V;ENSP00000303279:M73V	ENSP00000303279:M73V	M	+	1	0	IARS2	218334398	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.772000	0.62324	1.784000	0.52394	0.482000	0.46254	ATG	-	superfamily_Nucleotidylyl transferase		0.697	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS2	protein_coding		A	NM_018060		218334398	+1	no_errors	NM_018060	genbank	human	validated	54_36p	missense	SNP	1.000	G
AAMP	14	genome.wustl.edu	37	2	219134725	219134725	+	Nonsense_Mutation	SNP	C	C	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr2:219134725C>A	ENST00000248450.4	-	1	255	c.85G>T	c.(85-87)Gag>Tag	p.E29*	AAMP_ENST00000420660.1_5'Flank|PNKD_ENST00000273077.4_5'Flank|PNKD_ENST00000248451.3_5'Flank|AAMP_ENST00000444053.1_Nonsense_Mutation_p.E29*			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	29					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|positive regulation of endothelial cell migration (GO:0010595)|smooth muscle cell migration (GO:0014909)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTACCACCTCGATAATCTCT	0.632																																																0			2											136.0	148.0	144.0					2																	219134725		2203	4300	6503	218842969	SO:0001587	stop_gained	14			AB209790	CCDS33378.1	2q	2013-01-10			ENSG00000127837	ENSG00000127837		"""WD repeat domain containing"""	18	protein-coding gene	gene with protein product		603488				7743515	Standard	XM_005246325		Approved		uc002vhk.3	Q13685	OTTHUMG00000155202	ENST00000248450.4:c.85G>T	2.37:g.219134725C>A	ENSP00000248450:p.Glu29*		218842969	Q8WUJ9|Q96H92	Nonsense_Mutation	SNP	superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1	p.E29*	ENST00000248450.4	37	c.85	CCDS33378.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.918258	0.97105	.	.	ENSG00000127837	ENST00000248450;ENST00000444053	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.5588	15.2759	0.73742	0.0:1.0:0.0:0.0	.	.	.	.	X	29	.	ENSP00000248450:E29X	E	-	1	0	AAMP	218842969	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.006000	0.63978	2.624000	0.88883	0.655000	0.94253	GAG	-	NULL		0.632	AAMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AAMP	protein_coding	OTTHUMT00000338756.1	C	NM_001087		218842969	-1	no_errors	NM_001087	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A
CCDC185	164127	genome.wustl.edu	37	1	223566876	223566876	+	Missense_Mutation	SNP	G	G	A	rs75945379	byFrequency	TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr1:223566876G>A	ENST00000366875.3	+	1	162	c.59G>A	c.(58-60)cGg>cAg	p.R20Q		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		20										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GAACCCCCGCGGCCCGGCGGA	0.736													G|||	406	0.0810703	0.0832	0.0648	5008	,	,		10145	0.131		0.0398	False		,,,				2504	0.0808															0			1						G	GLN/ARG	233,3717		5,223,1747	4.0	6.0	5.0		59	-0.5	0.0	1	dbSNP_131	5	244,7682		2,240,3721	yes	missense	C1orf65	NM_152610.2	43	7,463,5468	AA,AG,GG		3.0785,5.8987,4.0165	possibly-damaging	20/624	223566876	477,11399	1975	3963	5938	221633499	SO:0001583	missense	164127																														ENST00000366875.3:c.59G>A	1.37:g.223566876G>A	ENSP00000355840:p.Arg20Gln		221633499	Q8N746|Q8NA93	Missense_Mutation	SNP	NULL	p.R20Q	ENST00000366875.3	37	c.59	CCDS1537.1	1	136	0.06227106227106227	27	0.054878048780487805	17	0.04696132596685083	65	0.11363636363636363	27	0.03562005277044855	G	9.585	1.124649	0.20959	0.058987	0.030785	ENSG00000178395	ENST00000366875	T	0.17854	2.25	3.7	-0.51	0.11973	.	.	.	.	.	T	0.00109	0.0003	N	0.14661	0.345	0.80722	P	0.0	P	0.44006	0.824	B	0.28916	0.096	T	0.37957	-0.9683	8	0.16896	T	0.51	.	3.9747	0.09468	0.0:0.4708:0.1905:0.3387	.	20	Q8N715	CA065_HUMAN	Q	20	ENSP00000355840:R20Q	ENSP00000355840:R20Q	R	+	2	0	C1orf65	221633499	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.361000	0.07612	-0.318000	0.08665	-1.097000	0.02148	CGG	-	NULL		0.736	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf65	protein_coding	OTTHUMT00000092718.1	G			221633499	+1	no_errors	NM_152610	genbank	human	validated	54_36p	missense	SNP	0.002	A
UGT1A1	54658	genome.wustl.edu	37	2	234669339	234669339	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr2:234669339C>G	ENST00000608383.1	+	1	406	c.406C>G	c.(406-408)Ctc>Gtc	p.L136V	UGT1A1_ENST00000360418.3_Missense_Mutation_p.L136V|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A8_ENST00000305208.5_Missense_Mutation_p.L136V|UGT1A3_ENST00000482026.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron			P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	136					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	CAACAAGGAGCTCATGGCCTC	0.498																																																0			2											129.0	127.0	128.0					2																	234669339		2203	4300	6503	234334078	SO:0001583	missense	54658			M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000608383.1:c.406C>G	2.37:g.234669339C>G	ENSP00000476741:p.Leu136Val		234334078	A6NJC3|B8K286	Missense_Mutation	SNP	superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT,PatternScan_UDPGT	p.L136V	ENST00000608383.1	37	c.406	CCDS2510.1	2	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399626	0.62177	.	.	ENSG00000241635	ENST00000305208;ENST00000360418	T;T	0.62105	0.05;0.05	6.16	-1.63	0.08345	.	.	.	.	.	T	0.68915	0.3053	M	0.72576	2.205	0.20403	N	0.999902	P;B	0.41546	0.754;0.325	P;B	0.59115	0.852;0.248	T	0.61222	-0.7106	9	0.66056	D	0.02	.	1.9582	0.03381	0.1053:0.3543:0.227:0.3134	.	136;136	A6NJC3;P22309	.;UD11_HUMAN	V	136	ENSP00000304845:L136V;ENSP00000353593:L136V	ENSP00000304845:L136V	L	+	1	0	UGT1A1	234334078	0.000000	0.05858	0.675000	0.29917	0.994000	0.84299	-0.212000	0.09319	-0.368000	0.08040	0.650000	0.86243	CTC	-	superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT		0.498	UGT1A1-203	KNOWN	basic|CCDS	protein_coding	UGT1A1	protein_coding		C			234334078	+1	no_errors	NM_000463	genbank	human	reviewed	54_36p	missense	SNP	0.530	G
OR2T6	254879	genome.wustl.edu	37	1	248551628	248551628	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2587-01A-01D-1526-09	TCGA-42-2587-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8	a9c224d3-7f20-427c-97a0-8573e5bd2793	g.chr1:248551628C>A	ENST00000355728.2	+	1	719	c.719C>A	c.(718-720)aCc>aAc	p.T240N		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCTTTGCCACCTGCTCTTCA	0.507																																																0			1											274.0	228.0	244.0					1																	248551628		2203	4300	6503	246618251	SO:0001583	missense	254879			AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.719C>A	1.37:g.248551628C>A	ENSP00000347965:p.Thr240Asn		246618251	A6NE36	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.T240N	ENST00000355728.2	37	c.719	CCDS31114.1	1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582462	0.65992	.	.	ENSG00000198104	ENST00000355728	T	0.40476	1.03	4.02	4.02	0.46733	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000268	T	0.75889	0.3911	H	0.96604	3.85	0.51482	D	0.999922	D	0.89917	1.0	D	0.85130	0.997	D	0.85598	0.1250	10	0.87932	D	0	.	16.2973	0.82783	0.0:1.0:0.0:0.0	.	240	Q8NHC8	OR2T6_HUMAN	N	240	ENSP00000347965:T240N	ENSP00000347965:T240N	T	+	2	0	OR2T6	246618251	0.994000	0.37717	0.996000	0.52242	0.578000	0.36192	2.956000	0.49129	2.237000	0.73441	0.643000	0.83706	ACC	-	superfamily_SSF81321,HMMPfam_7tm_1		0.507	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T6	protein_coding	OTTHUMT00000097344.1	C	NM_001005471		246618251	+1	no_errors	NM_001005471	genbank	human	provisional	54_36p	missense	SNP	0.999	A
