#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
MYOM2	9172	genome.wustl.edu	37	8	2050535	2050535	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr8:2050535G>C	ENST00000262113.4	+	21	2839	c.2698G>C	c.(2698-2700)Gac>Cac	p.D900H	MYOM2_ENST00000523438.1_Missense_Mutation_p.D325H	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	900	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GAAGCCCTCAGACACGTCGGA	0.502																																																0			8											78.0	67.0	71.0					8																	2050535		2203	4300	6503	2037942	SO:0001583	missense	9172				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2698G>C	8.37:g.2050535G>C	ENSP00000262113:p.Asp900His		2037942	Q7Z3Y2	Missense_Mutation	SNP	superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IG,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3,HMMPfam_ig,HMMSmart_IGc2	p.D900H	ENST00000262113.4	37	c.2698	CCDS5957.1	8	.	.	.	.	.	.	.	.	.	.	G	8.896	0.955098	0.18507	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.55930	0.49;0.49	4.93	4.04	0.47022	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.437344	0.25774	N	0.028398	T	0.63674	0.2531	M	0.80746	2.51	0.09310	N	1	P	0.40302	0.712	P	0.46076	0.503	T	0.61466	-0.7057	10	0.59425	D	0.04	.	15.5763	0.76392	0.0:0.1385:0.8615:0.0	.	900	P54296	MYOM2_HUMAN	H	900;325	ENSP00000262113:D900H;ENSP00000428396:D325H	ENSP00000262113:D900H	D	+	1	0	MYOM2	2037942	1.000000	0.71417	0.005000	0.12908	0.002000	0.02628	3.331000	0.52075	1.176000	0.42840	0.609000	0.83330	GAC	-	superfamily_FN_III-like		0.502	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOM2	protein_coding	OTTHUMT00000251249.1	G	NM_003970		2037942	+1	no_errors	NM_003970	genbank	human	validated	54_36p	missense	SNP	0.048	C
KREMEN2	79412	genome.wustl.edu	37	16	3014558	3014558	+	Missense_Mutation	SNP	C	C	G			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr16:3014558C>G	ENST00000303746.5	+	1	614	c.37C>G	c.(37-39)Ctc>Gtc	p.L13V	KREMEN2_ENST00000575769.1_Missense_Mutation_p.L13V|KREMEN2_ENST00000571007.1_Missense_Mutation_p.L13V|KREMEN2_ENST00000572045.1_Missense_Mutation_p.L13V|KREMEN2_ENST00000319500.6_Missense_Mutation_p.L13V|KREMEN2_ENST00000575885.1_Missense_Mutation_p.L13V			Q8NCW0	KREM2_HUMAN	kringle containing transmembrane protein 2	13					Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						CCTCTTTCTCCTCTTCCTCCC	0.687																																																0			16											58.0	62.0	61.0					16																	3014558		2198	4300	6498	2954559	SO:0001583	missense	79412			BC003533	CCDS10483.1, CCDS10484.1, CCDS58412.1, CCDS58413.1	16p13.11	2008-08-04			ENSG00000131650	ENSG00000131650			18797	protein-coding gene	gene with protein product		609899				12050670	Standard	NM_172229		Approved	MGC10791, KRM2	uc002csg.3	Q8NCW0	OTTHUMG00000128976	ENST00000303746.5:c.37C>G	16.37:g.3014558C>G	ENSP00000304422:p.Leu13Val		2954559	B4DXF6|I3L2S2|Q8N2J4|Q8NCW1|Q96GL8|Q9BTP9	Missense_Mutation	SNP	superfamily_Kringle-like,HMMSmart_SM00130,HMMPfam_Kringle,PatternScan_KRINGLE_1,HMMSmart_SM00321,HMMPfam_WSC,superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042	p.L13V	ENST00000303746.5	37	c.37	CCDS10483.1	16	.	.	.	.	.	.	.	.	.	.	c	11.93	1.786657	0.31593	.	.	ENSG00000131650	ENST00000303746;ENST00000319500	T;T	0.56444	0.46;0.49	4.58	-2.68	0.06041	Kringle-like fold (1);	0.000000	0.27951	U	0.017188	T	0.29126	0.0724	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B;B	0.18166	0.007;0.015;0.012;0.012;0.026;0.007	B;B;B;B;B;B	0.19148	0.006;0.01;0.015;0.024;0.022;0.006	T	0.07046	-1.0793	10	0.25751	T	0.34	.	3.2014	0.06651	0.2974:0.3213:0.0:0.3813	.	13;13;13;13;13;13	B4DXF6;Q53F67;Q8NCW0-2;Q8NCW0-4;Q8NCW0-3;Q8NCW0	.;.;.;.;.;KREM2_HUMAN	V	13	ENSP00000304422:L13V;ENSP00000322079:L13V	ENSP00000304422:L13V	L	+	1	0	KREMEN2	2954559	0.000000	0.05858	0.001000	0.08648	0.208000	0.24298	0.041000	0.13927	-0.413000	0.07507	-0.348000	0.07805	CTC	-	superfamily_Kringle-like		0.687	KREMEN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KREMEN2	protein_coding	OTTHUMT00000250964.2	C	NM_145347		2954559	+1	no_errors	NM_172229	genbank	human	reviewed	54_36p	missense	SNP	0.001	G
MAVS	57506	genome.wustl.edu	37	20	3845437	3845437	+	Splice_Site	SNP	T	T	G			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr20:3845437T>G	ENST00000428216.2	+	6	1286		c.e6+2		MAVS_ENST00000358134.6_Splice_Site|MAVS_ENST00000416600.2_Splice_Site	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein						activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						AGAAATGAGGTGAGTCCTCGC	0.632																																																0			20											82.0	76.0	78.0					20																	3845437		2203	4300	6503	3793437	SO:0001630	splice_region_variant	57506			DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.1158+2T>G	20.37:g.3845437T>G			3793437	A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Splice_Site	SNP	-	e5+2	ENST00000428216.2	37	c.1158+2	CCDS33437.1	20	.	.	.	.	.	.	.	.	.	.	T	8.947	0.967220	0.18659	.	.	ENSG00000088888	ENST00000416600;ENST00000428216	.	.	.	3.98	3.98	0.46160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.5348	0.39216	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAVS	3793437	1.000000	0.71417	0.999000	0.59377	0.011000	0.07611	2.947000	0.49058	2.042000	0.60477	0.482000	0.46254	.	-	-		0.632	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VISA	protein_coding	OTTHUMT00000077784.3	T	NM_020746	Intron	3793437	+1	no_errors	NM_020746	genbank	human	validated	54_36p	splice_site	SNP	0.969	G
DNAJA3	9093	genome.wustl.edu	37	16	4475904	4475904	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr16:4475904C>A	ENST00000262375.6	+	1	99	c.22C>A	c.(22-24)Cgc>Agc	p.R8S	DNAJA3_ENST00000431375.2_5'UTR|DNAJA3_ENST00000355296.4_Missense_Mutation_p.R8S	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	8					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation-induced cell death of T cells (GO:0006924)|cell aging (GO:0007569)|mitochondrial DNA replication (GO:0006264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of programmed cell death (GO:0043069)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell proliferation (GO:0042102)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|response to heat (GO:0009408)|response to interferon-gamma (GO:0034341)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation in thymus (GO:0033077)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of plasma membrane (GO:0019897)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|interferon-gamma receptor binding (GO:0005133)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|small GTPase regulator activity (GO:0005083)|transcription factor binding (GO:0008134)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						GTGCTCCACACGCTGGTTGCT	0.751																																																0			16											6.0	8.0	7.0					16																	4475904		2084	4073	6157	4415905	SO:0001583	missense	9093			AF061749	CCDS10515.1, CCDS45400.1, CCDS66930.1	16p13.3	2011-09-02			ENSG00000103423	ENSG00000103423		"""Heat shock proteins / DNAJ (HSP40)"""	11808	protein-coding gene	gene with protein product		608382		TID1		9683573	Standard	NM_005147		Approved	hTid-1	uc002cwk.3	Q96EY1	OTTHUMG00000129470	ENST00000262375.6:c.22C>A	16.37:g.4475904C>A	ENSP00000262375:p.Arg8Ser		4415905	B2RAJ5|B4DI33|E7ES32|O75472|Q8WUJ6|Q8WXJ3|Q96D76|Q96IV1|Q9NYH8	Missense_Mutation	SNP	superfamily_DnaJ_N,HMMSmart_DnaJ,HMMPfam_DnaJ,PatternScan_DNAJ_1,superfamily_HSP_DnaJ_cys-rich,HMMPfam_DnaJ_CXXCXGXG,HMMPfam_DnaJ_C,superfamily_HSP40_DnaJ_pep	p.R8S	ENST00000262375.6	37	c.22	CCDS10515.1	16	.	.	.	.	.	.	.	.	.	.	C	35	5.510085	0.96386	.	.	ENSG00000103423	ENST00000262375;ENST00000355296	T;T	0.66099	-0.19;-0.15	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.70351	0.3214	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.72520	-0.4268	10	0.87932	D	0	-17.9338	15.7769	0.78228	0.0:1.0:0.0:0.0	.	8;8	Q96EY1-2;Q96EY1	.;DNJA3_HUMAN	S	8	ENSP00000262375:R8S;ENSP00000347445:R8S	ENSP00000262375:R8S	R	+	1	0	DNAJA3	4415905	0.999000	0.42202	1.000000	0.80357	0.930000	0.56654	1.628000	0.37060	2.797000	0.96272	0.655000	0.94253	CGC	-	NULL		0.751	DNAJA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNAJA3	protein_coding	OTTHUMT00000251633.1	C			4415905	+1	no_errors	NM_005147	genbank	human	validated	54_36p	missense	SNP	1.000	A
SLC29A4	222962	genome.wustl.edu	37	7	5336737	5336737	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr7:5336737C>T	ENST00000396872.3	+	7	951	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W	SLC29A4_ENST00000297195.4_Missense_Mutation_p.R264W|SLC29A4_ENST00000406453.3_Missense_Mutation_p.R250W			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	264					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	CTATACCACACGGCCGCGTGA	0.652																																																0			7											38.0	38.0	38.0					7																	5336737		2200	4298	6498	5303263	SO:0001583	missense	222962			AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"""Solute carriers"""	23097	protein-coding gene	gene with protein product		609149	"""solute carrier family 29 (nucleoside transporters), member 4"""			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.790C>T	7.37:g.5336737C>T	ENSP00000380081:p.Arg264Trp		5303263	Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	superfamily_MFS general substrate transporter,HMMPfam_Nucleoside_tran	p.R264W	ENST00000396872.3	37	c.790	CCDS5340.1	7	.	.	.	.	.	.	.	.	.	.	.	12.74	2.029882	0.35797	.	.	ENSG00000164638	ENST00000396872;ENST00000297195;ENST00000406453	D;D;D	0.82433	-1.61;-1.61;-1.61	3.75	0.615	0.17608	Major facilitator superfamily domain, general substrate transporter (1);	1.493740	0.05121	U	0.490737	D	0.86703	0.5996	L	0.54323	1.7	0.31881	N	0.618423	D;D	0.76494	0.998;0.999	P;D	0.63033	0.804;0.91	T	0.74515	-0.3640	10	0.59425	D	0.04	-12.5143	5.6145	0.17423	0.4839:0.4142:0.0:0.1019	.	250;264	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	W	264;264;250	ENSP00000380081:R264W;ENSP00000297195:R264W;ENSP00000385845:R250W	ENSP00000297195:R264W	R	+	1	2	SLC29A4	5303263	0.676000	0.27567	0.017000	0.16124	0.061000	0.15899	0.192000	0.17096	-0.233000	0.09797	0.555000	0.69702	CGG	-	superfamily_MFS general substrate transporter,HMMPfam_Nucleoside_tran		0.652	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A4	protein_coding	OTTHUMT00000060118.6	C	NM_153247		5303263	+1	no_errors	NM_001040661	genbank	human	reviewed	54_36p	missense	SNP	0.639	T
GAPDH	2597	genome.wustl.edu	37	12	6646542	6646542	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr12:6646542G>C	ENST00000229239.5	+	7	1177	c.511G>C	c.(511-513)Gtg>Ctg	p.V171L	GAPDH_ENST00000396859.1_Missense_Mutation_p.V171L|GAPDH_ENST00000396856.1_Missense_Mutation_p.V96L|GAPDH_ENST00000396858.1_Missense_Mutation_p.V129L|GAPDH_ENST00000396861.1_Missense_Mutation_p.V171L|RP5-940J5.9_ENST00000602946.1_RNA	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	171					carbohydrate metabolic process (GO:0005975)|cellular response to interferon-gamma (GO:0071346)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of translation (GO:0017148)|neuron apoptotic process (GO:0051402)|peptidyl-cysteine S-trans-nitrosylation (GO:0035606)|protein stabilization (GO:0050821)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GAIT complex (GO:0097452)|lipid particle (GO:0005811)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|identical protein binding (GO:0042802)|microtubule binding (GO:0008017)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|peptidyl-cysteine S-nitrosylase activity (GO:0035605)			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						CTTTGGTATCGTGGAAGGACT	0.587																																																0			12											54.0	51.0	52.0					12																	6646542		2203	4300	6503	6516803	SO:0001583	missense	2597			AF261085	CCDS8549.1, CCDS58201.1	12p13.31	2012-10-02		2005-05-06	ENSG00000111640	ENSG00000111640	1.2.1.12		4141	protein-coding gene	gene with protein product		138400		GAPD		3170585	Standard	NM_002046		Approved		uc001qop.2	P04406	OTTHUMG00000137379	ENST00000229239.5:c.511G>C	12.37:g.6646542G>C	ENSP00000229239:p.Val171Leu		6516803	E7EUT4|P00354|Q53X65	Missense_Mutation	SNP	HMMPfam_Gp_dh_N,superfamily_NAD(P)-binding Rossmann-fold domains,PatternScan_GAPDH,superfamily_Glyceraldehyde-3-phosphate dehydrogenase-like C-terminal domain,HMMPfam_Gp_dh_C	p.V171L	ENST00000229239.5	37	c.511	CCDS8549.1	12	.	.	.	.	.	.	.	.	.	.	G	14.99	2.701588	0.48307	.	.	ENSG00000111640	ENST00000229239;ENST00000450282;ENST00000396856;ENST00000396861;ENST00000396859;ENST00000396858	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	4.62	4.62	0.57501	Glyceraldehyde 3-phosphate dehydrogenase, catalytic domain (1);	0.147218	0.46145	D	0.000320	T	0.38692	0.1050	L	0.52364	1.645	0.28314	N	0.922535	B;B;B;B;B	0.17038	0.006;0.006;0.006;0.004;0.02	B;B;B;B;B	0.17098	0.008;0.008;0.005;0.012;0.017	T	0.36432	-0.9748	10	0.52906	T	0.07	.	13.4227	0.61007	0.0:0.1574:0.8426:0.0	.	129;146;171;96;171	E7EUT4;Q0QET7;Q2TSD0;E7EUT5;P04406	.;.;.;.;G3P_HUMAN	L	171;171;96;171;171;129	ENSP00000229239:V171L;ENSP00000380065:V96L;ENSP00000380070:V171L;ENSP00000380068:V171L;ENSP00000380067:V129L	ENSP00000229239:V171L	V	+	1	0	GAPDH	6516803	1.000000	0.71417	0.997000	0.53966	0.880000	0.50808	4.161000	0.58170	2.403000	0.81681	0.561000	0.74099	GTG	-	superfamily_NAD(P)-binding Rossmann-fold domains,superfamily_Glyceraldehyde-3-phosphate dehydrogenase-like C-terminal domain,HMMPfam_Gp_dh_C		0.587	GAPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAPDH	protein_coding	OTTHUMT00000268059.1	G	NM_002046		6516803	+1	no_errors	NM_002046	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
TP53	7157	genome.wustl.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	17	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50.0	50.0	50.0					17																	7578406		2203	4300	6503	7519131	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		7519131	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.R175H	ENST00000269305.4	37	c.524	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	-	HMMPfam_P53,superfamily_p53-like transcription factors		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7519131	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
CAMTA1	23261	genome.wustl.edu	37	1	7723535	7723535	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr1:7723535G>C	ENST00000303635.7	+	9	1135	c.928G>C	c.(928-930)Gag>Cag	p.E310Q	CAMTA1_ENST00000439411.2_Missense_Mutation_p.E310Q	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	310					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TGACGTGTCGGAGGGCAAGCA	0.637			T	WWTR1	epitheliod hemangioendothelioma																																		Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0			1											102.0	101.0	101.0					1																	7723535		2203	4300	6503	7646122	SO:0001583	missense	23261			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.928G>C	1.37:g.7723535G>C	ENSP00000306522:p.Glu310Gln		7646122	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	HMMPfam_CG-1,superfamily_E set domains,HMMPfam_TIG,superfamily_Ankyrin repeat,HMMPfam_Ank,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_IQ	p.E310Q	ENST00000303635.7	37	c.928	CCDS30576.1	1	.	.	.	.	.	.	.	.	.	.	g	13.09	2.133419	0.37630	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.27256	1.68;1.68	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.48822	0.1521	L	0.61218	1.895	0.48901	D	0.999724	D	0.69078	0.997	D	0.75484	0.986	T	0.39603	-0.9606	10	0.34782	T	0.22	-20.1914	18.0692	0.89400	0.0:0.0:1.0:0.0	.	310	Q9Y6Y1	CMTA1_HUMAN	Q	310	ENSP00000306522:E310Q;ENSP00000402561:E310Q	ENSP00000306522:E310Q	E	+	1	0	CAMTA1	7646122	1.000000	0.71417	0.929000	0.37066	0.194000	0.23727	9.695000	0.98691	2.271000	0.75665	0.549000	0.68633	GAG	-	NULL		0.637	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	protein_coding	OTTHUMT00000003588.3	G	NM_015215		7646122	+1	no_errors	NM_015215	genbank	human	validated	54_36p	missense	SNP	1.000	C
PLCB4	5332	genome.wustl.edu	37	20	9402041	9402041	+	Missense_Mutation	SNP	G	G	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr20:9402041G>T	ENST00000378493.1	+	23	2231	c.2216G>T	c.(2215-2217)cGa>cTa	p.R739L	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.R739L|PLCB4_ENST00000334005.3_Missense_Mutation_p.R739L|PLCB4_ENST00000414679.2_Missense_Mutation_p.R751L|PLCB4_ENST00000378473.3_Missense_Mutation_p.R751L|PLCB4_ENST00000378501.2_Missense_Mutation_p.R739L			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	739	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AAGGAATTCCGAACTCGCATG	0.398																																																0			20											140.0	124.0	130.0					20																	9402041		2203	4300	6503	9350041	SO:0001583	missense	5332				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2216G>T	20.37:g.9402041G>T	ENSP00000367754:p.Arg739Leu		9350041	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	superfamily_SSF50729,superfamily_SSF47473,HMMPfam_efhand_like,HMMSmart_PLCXc,HMMPfam_PI-PLC-X,superfamily_PLC-like_Pdiesterase_TIM-brl,HMMPfam_PI-PLC-Y,HMMSmart_PLCYc,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2,HMMPfam_DUF1154	p.R739L	ENST00000378493.1	37	c.2216	CCDS13105.1	20	.	.	.	.	.	.	.	.	.	.	G	34	5.349423	0.95830	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74;-0.74	5.8	5.8	0.92144	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.90072	0.6899	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	0.999;0.991;0.99;1.0	D;P;D;D	0.80764	0.959;0.876;0.977;0.994	D	0.91611	0.5303	10	0.87932	D	0	.	20.0693	0.97712	0.0:0.0:1.0:0.0	.	751;586;739;739	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	L	739;751;739;739;739;587	ENSP00000334105:R739L;ENSP00000367734:R751L;ENSP00000278655:R739L;ENSP00000367754:R739L;ENSP00000367762:R739L;ENSP00000390616:R587L	ENSP00000278655:R739L	R	+	2	0	PLCB4	9350041	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	9.869000	0.99810	2.758000	0.94735	0.563000	0.77884	CGA	-	superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2		0.398	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	protein_coding	OTTHUMT00000077948.2	G			9350041	+1	no_errors	NM_000933	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
Unknown	0	genome.wustl.edu	37	12	9465266	9465266	+	IGR	SNP	C	C	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr12:9465266C>A								SNORA75 (25848 upstream) : RP13-735L24.1 (54793 downstream)																							AGAACCTGTGCATGAAGGCCG	0.642																																																0			12																																								9356533	SO:0001628	intergenic_variant	0																															12.37:g.9465266C>A			9356533		Nonsense_Mutation	SNP	superfamily_SSF52540,HMMSmart_DEXDc2,HMMPfam_DEAD_2,HMMSmart_HELICc2	p.C838*		37	c.2514		12																																																																																			-	HMMSmart_HELICc2	0	0.642					ENSG00000111788			C			9356533	+1	no_errors	ENST00000341155	ensembl	human	known	54_36p	nonsense	SNP	0.999	A
DNAH9	1770	genome.wustl.edu	37	17	11572543	11572543	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr17:11572543G>A	ENST00000262442.4	+	16	2962	c.2894G>A	c.(2893-2895)cGg>cAg	p.R965Q	DNAH9_ENST00000454412.2_Missense_Mutation_p.R965Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	965	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGGTGCCACGGCTTTCCCCA	0.532																																																0			17											107.0	101.0	103.0					17																	11572543		2203	4300	6503	11513268	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2894G>A	17.37:g.11572543G>A	ENSP00000262442:p.Arg965Gln		11513268	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	HMMPfam_DHC_N1,superfamily_Spectrin repeat,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,HMMPfam_Dynein_heavy,PatternScan_CPSASE_2	p.R965Q	ENST00000262442.4	37	c.2894	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943186	0.92526	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.27557	1.7;1.66	5.6	4.63	0.57726	.	0.153884	0.42682	D	0.000675	T	0.54481	0.1861	M	0.89287	3.02	0.80722	D	1	D	0.61080	0.989	P	0.55391	0.775	T	0.63310	-0.6666	10	0.45353	T	0.12	.	14.515	0.67814	0.0707:0.0:0.9293:0.0	.	965	Q9NYC9	DYH9_HUMAN	Q	965	ENSP00000262442:R965Q;ENSP00000414874:R965Q	ENSP00000262442:R965Q	R	+	2	0	DNAH9	11513268	1.000000	0.71417	0.729000	0.30791	0.932000	0.56968	6.426000	0.73374	1.373000	0.46208	0.655000	0.94253	CGG	-	NULL		0.532	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	protein_coding	OTTHUMT00000252756.2	G	NM_001372		11513268	+1	no_errors	NM_001372	genbank	human	reviewed	54_36p	missense	SNP	0.947	A
PDE3B	5140	genome.wustl.edu	37	11	14665916	14665916	+	Missense_Mutation	SNP	G	G	C	rs200051655	byFrequency	TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr11:14665916G>C	ENST00000282096.4	+	1	648	c.295G>C	c.(295-297)Gag>Cag	p.E99Q	PDE3B_ENST00000455098.2_Missense_Mutation_p.E99Q|PDE3B_ENST00000534317.1_3'UTR|PSMA1_ENST00000418988.2_5'Flank	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	99					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	CGCGGAACCCGAGAGCTGGGC	0.716																																																0			11											15.0	17.0	16.0					11																	14665916		2183	4279	6462	14622492	SO:0001583	missense	5140			U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.295G>C	11.37:g.14665916G>C	ENSP00000282096:p.Glu99Gln		14622492	B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	superfamily_HD-domain/PDEase-like,HMMSmart_SM00471,HMMPfam_PDEase_I,PatternScan_PDEASE_I	p.E99Q	ENST00000282096.4	37	c.295	CCDS7817.1	11	.	.	.	.	.	.	.	.	.	.	G	14.19	2.460820	0.43736	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	T;T	0.63096	0.02;-0.02	3.4	2.46	0.29980	.	8.789750	0.00166	N	0.000000	T	0.50650	0.1628	N	0.22421	0.69	0.28932	N	0.8915	B;B;B	0.31680	0.199;0.089;0.335	B;B;B	0.28553	0.063;0.063;0.091	T	0.43540	-0.9385	10	0.29301	T	0.29	.	10.6175	0.45458	0.0:0.1955:0.8044:0.0	.	99;99;99	B7ZM37;Q13370;A7E2E5	.;PDE3B_HUMAN;.	Q	99	ENSP00000282096:E99Q;ENSP00000388644:E99Q	ENSP00000282096:E99Q	E	+	1	0	PDE3B	14622492	0.996000	0.38824	0.957000	0.39632	0.871000	0.50021	1.908000	0.39907	0.636000	0.30508	0.313000	0.20887	GAG	-	NULL		0.716	PDE3B-001	KNOWN	basic|CCDS	protein_coding	PDE3B	protein_coding	OTTHUMT00000386974.1	G	NM_000922		14622492	+1	no_errors	NM_000922	genbank	human	validated	54_36p	missense	SNP	0.999	C
OR10H1	26539	genome.wustl.edu	37	19	15917978	15917978	+	Silent	SNP	G	G	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr19:15917978G>A	ENST00000334920.2	-	1	958	c.870C>T	c.(868-870)atC>atT	p.I290I		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						TGAGGCTGAAGATGATGGGGC	0.488																																																0			19											82.0	71.0	75.0					19																	15917978		2203	4298	6501	15778978	SO:0001819	synonymous_variant	26539			AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"""GPCR / Class A : Olfactory receptors"""	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.870C>T	19.37:g.15917978G>A			15778978	Q6IFQ2|Q96R59	Silent	SNP	PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1	p.I290	ENST00000334920.2	37	c.870	CCDS12335.1	19																																																																																			-	superfamily_SSF81321,HMMPfam_7tm_1		0.488	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H1	protein_coding	OTTHUMT00000460364.1	G			15778978	-1	no_errors	NM_013940	genbank	human	validated	54_36p	silent	SNP	1.000	A
SLC7A2	6542	genome.wustl.edu	37	8	17400910	17400910	+	Missense_Mutation	SNP	C	C	T	rs546678343		TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr8:17400910C>T	ENST00000494857.1	+	3	280	c.62C>T	c.(61-63)aCc>aTc	p.T21I	SLC7A2_ENST00000004531.10_Missense_Mutation_p.T61I|SLC7A2_ENST00000470360.1_Missense_Mutation_p.T61I|SLC7A2_ENST00000522656.1_Missense_Mutation_p.T21I|SLC7A2_ENST00000398090.3_Missense_Mutation_p.T61I	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	21					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	AAAATCGTGACCCTGGACAGT	0.557																																																0			8											89.0	83.0	85.0					8																	17400910		2203	4300	6503	17445289	SO:0001583	missense	6542			D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.62C>T	8.37:g.17400910C>T	ENSP00000419140:p.Thr21Ile		17445289	B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	HMMPfam_AA_permease	p.T61I	ENST00000494857.1	37	c.182	CCDS34852.1	8	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026842	0.35797	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.88431	-2.21;-2.21;-2.38;-2.24;-2.38	5.5	4.62	0.57501	.	0.259629	0.45361	D	0.000375	D	0.83741	0.5320	L	0.36672	1.1	0.26472	N	0.975266	B;B;B	0.29162	0.235;0.214;0.157	B;B;B	0.35114	0.196;0.138;0.129	T	0.76836	-0.2812	10	0.59425	D	0.04	.	7.4013	0.26965	0.1258:0.6842:0.1215:0.0685	.	61;61;21	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	I	21;21;61;61;61	ENSP00000419140:T21I;ENSP00000430464:T21I;ENSP00000419873:T61I;ENSP00000004531:T61I;ENSP00000381164:T61I	ENSP00000004531:T61I	T	+	2	0	SLC7A2	17445289	0.004000	0.15560	0.675000	0.29917	0.861000	0.49209	1.295000	0.33377	1.466000	0.48025	0.655000	0.94253	ACC	-	NULL		0.557	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A2	protein_coding	OTTHUMT00000253367.3	C	NM_003046		17445289	+1	no_errors	NM_003046	genbank	human	validated	54_36p	missense	SNP	0.526	T
PI4KAP1	728233	genome.wustl.edu	37	22	20383893	20383893	+	RNA	SNP	G	G	C			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr22:20383893G>C	ENST00000430523.3	-	0	2197					NR_003563.1		Q8N8J0	PI4P1_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1						phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)												CATTCTGATAGTACTGGATCA	0.602																																																0			22																																								18763893			728233					22q11.21	2007-08-14	2007-08-14			ENSG00000274602			33576	pseudogene	pseudogene							Standard	NR_003563		Approved		uc010gsg.2	Q8N8J0			22.37:g.20383893G>C			18763893		Nonsense_Mutation	SNP	superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2	p.Y569*	ENST00000430523.3	37	c.1707		22																																																																																			-	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00146		0.602	PI4KAP1-005	KNOWN	basic	processed_transcript	PI4KAP1	pseudogene	OTTHUMT00000319534.5	G			18763893	-1	no_errors	ENST00000400467	ensembl	human	known	54_36p	nonsense	SNP	1.000	C
LATS2	26524	genome.wustl.edu	37	13	21553914	21553914	+	Nonsense_Mutation	SNP	C	C	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr13:21553914C>T	ENST00000382592.4	-	7	3093	c.2688G>A	c.(2686-2688)tgG>tgA	p.W896*	LATS2_ENST00000542899.1_Nonsense_Mutation_p.W896*	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CAACACTCCACCAGTCACAGA	0.493																																																0			13											91.0	74.0	80.0					13																	21553914		2203	4300	6503	20451914	SO:0001587	stop_gained	26524			AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.2688G>A	13.37:g.21553914C>T	ENSP00000372035:p.Trp896*		20451914		Nonsense_Mutation	SNP	HMMPfam_UBA,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X,HMMPfam_Pkinase_C	p.W896*	ENST00000382592.4	37	c.2688	CCDS9294.1	13	.	.	.	.	.	.	.	.	.	.	C	44	10.934400	0.99491	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	.	.	.	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.8612	0.96785	0.0:1.0:0.0:0.0	.	.	.	.	X	896	.	ENSP00000372035:W896X	W	-	3	0	LATS2	20451914	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.770000	0.85390	2.767000	0.95098	0.555000	0.69702	TGG	-	superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase		0.493	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS2	protein_coding	OTTHUMT00000044102.1	C			20451914	-1	no_errors	NM_014572	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T
NFATC4	4776	genome.wustl.edu	37	14	24845700	24845700	+	Missense_Mutation	SNP	G	G	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr14:24845700G>T	ENST00000250373.4	+	9	2398	c.2257G>T	c.(2257-2259)Ggg>Tgg	p.G753W	NFATC4_ENST00000539237.2_Missense_Mutation_p.G785W|NFATC4_ENST00000556169.1_Missense_Mutation_p.G741W|NFATC4_ENST00000413692.2_Missense_Mutation_p.G816W|NFATC4_ENST00000554473.1_Missense_Mutation_p.G288W|NFATC4_ENST00000556279.1_Missense_Mutation_p.G785W|NFATC4_ENST00000553708.1_Missense_Mutation_p.G753W|NFATC4_ENST00000554966.1_Missense_Mutation_p.G766W|NFATC4_ENST00000555453.1_Missense_Mutation_p.G741W|NFATC4_ENST00000557767.1_Missense_Mutation_p.G41W|NFATC4_ENST00000554591.1_Missense_Mutation_p.G816W|NFATC4_ENST00000555590.1_Missense_Mutation_p.G766W|NFATC4_ENST00000554661.1_Missense_Mutation_p.G683W|NFATC4_ENST00000555802.1_Missense_Mutation_p.G41W|NFATC4_ENST00000422617.3_Missense_Mutation_p.G741W|NFATC4_ENST00000554050.1_Missense_Mutation_p.G753W|NFATC4_ENST00000556759.1_Missense_Mutation_p.G288W|NFATC4_ENST00000557451.1_Missense_Mutation_p.G683W|NFATC4_ENST00000553469.1_Missense_Mutation_p.G785W|NFATC4_ENST00000555167.1_Missense_Mutation_p.G288W|NFATC4_ENST00000554344.1_Missense_Mutation_p.G683W|NFATC4_ENST00000424781.2_Missense_Mutation_p.G766W|NFATC4_ENST00000555393.1_Missense_Mutation_p.G41W|NFATC4_ENST00000553879.1_Missense_Mutation_p.G683W	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	753	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CCCCCAGACGGGGCCCCCACC	0.622																																																0			14											44.0	48.0	46.0					14																	24845700		2203	4300	6503	23915540	SO:0001583	missense	4776			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.2257G>T	14.37:g.24845700G>T	ENSP00000250373:p.Gly753Trp		23915540	B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	superfamily_p53-like transcription factors,HMMPfam_RHD,HMMSmart_SM00429,superfamily_E set domains,HMMPfam_TIG	p.G753W	ENST00000250373.4	37	c.2257	CCDS9629.1	14	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034369	0.75617	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453;ENST00000554473;ENST00000556759;ENST00000555167;ENST00000557767;ENST00000555393;ENST00000555802	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.62364	3.04;3.15;3.12;3.17;3.08;3.07;3.11;3.16;3.17;3.12;3.07;2.8;2.8;2.85;2.84;2.76;2.75;2.78;1.44;1.35;1.34;0.03;0.08	5.13	5.13	0.70059	.	0.000000	0.56097	D	0.000038	T	0.64811	0.2632	N	0.19112	0.55	0.40897	D	0.984122	D;D;D;D;D;D;D;D;D;D;D;D;D	0.71674	0.998;0.998;0.998;0.998;0.998;0.998;0.998;0.998;0.998;0.998;0.998;0.998;0.997	D;D;D;D;D;D;D;D;D;D;D;D;D	0.71870	0.963;0.975;0.975;0.975;0.975;0.975;0.975;0.975;0.975;0.975;0.975;0.975;0.945	T	0.65051	-0.6262	10	0.38643	T	0.18	-11.0484	13.9397	0.64048	0.0:0.0:1.0:0.0	.	741;741;785;785;766;766;766;816;816;741;785;816;753	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	W	816;816;766;766;766;785;785;785;753;753;753;683;683;683;741;683;741;741;288;288;288;41;41;41	ENSP00000388910:G816W;ENSP00000452039:G816W;ENSP00000451224:G766W;ENSP00000450644:G766W;ENSP00000388668:G766W;ENSP00000439350:G785W;ENSP00000452270:G785W;ENSP00000451502:G785W;ENSP00000451151:G753W;ENSP00000250373:G753W;ENSP00000450590:G753W;ENSP00000452349:G683W;ENSP00000450469:G683W;ENSP00000450733:G683W;ENSP00000451454:G741W;ENSP00000451284:G683W;ENSP00000396788:G741W;ENSP00000450686:G741W;ENSP00000450810:G288W;ENSP00000451183:G288W;ENSP00000451395:G288W;ENSP00000451801:G41W;ENSP00000451590:G41W	ENSP00000250373:G753W	G	+	1	0	NFATC4	23915540	0.996000	0.38824	0.998000	0.56505	0.997000	0.91878	3.364000	0.52328	2.667000	0.90743	0.561000	0.74099	GGG	-	NULL		0.622	NFATC4-001	KNOWN	basic|CCDS	protein_coding	NFATC4	protein_coding	OTTHUMT00000073206.6	G	NM_004554		23915540	+1	no_errors	NM_004554	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
CPD	1362	genome.wustl.edu	37	17	28772784	28772784	+	Silent	SNP	C	C	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr17:28772784C>A	ENST00000225719.4	+	12	2695	c.2619C>A	c.(2617-2619)tcC>tcA	p.S873S	CPD_ENST00000543464.2_Silent_p.S626S	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	873	Carboxypeptidase-like 2.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						TTGTTCGATCCTCAACAGATT	0.393																																																0			17											46.0	43.0	44.0					17																	28772784		2203	4300	6503	25796910	SO:0001819	synonymous_variant	1362			U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.2619C>A	17.37:g.28772784C>A			25796910	B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Silent	SNP	superfamily_SSF53187,HMMSmart_Zn_pept,HMMPfam_Peptidase_M14,PatternScan_CARBOXYPEPT_ZN_1,PatternScan_CARBOXYPEPT_ZN_2,superfamily_CarboxypepD_reg	p.S873	ENST00000225719.4	37	c.2619	CCDS11257.1	17																																																																																			-	HMMSmart_Zn_pept,superfamily_CarboxypepD_reg		0.393	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPD	protein_coding	OTTHUMT00000256214.3	C	NM_001304		25796910	+1	no_errors	NM_001304	genbank	human	reviewed	54_36p	silent	SNP	0.402	A
BTN3A3	10384	genome.wustl.edu	37	6	26451915	26451915	+	Missense_Mutation	SNP	T	T	C			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr6:26451915T>C	ENST00000244519.2	+	11	1274	c.1031T>C	c.(1030-1032)cTg>cCg	p.L344P	BTN3A3_ENST00000339789.4_Missense_Mutation_p.L302P|BTN3A3_ENST00000361232.3_Missense_Mutation_p.L295P	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	344	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GATGTGATTCTGGATCCAGAC	0.557																																																0			6											60.0	64.0	63.0					6																	26451915		2203	4300	6503	26559894	SO:0001583	missense	10384			U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.1031T>C	6.37:g.26451915T>C	ENSP00000244519:p.Leu344Pro		26559894	B4DWI7|E9PCP5	Missense_Mutation	SNP	superfamily_SSF48726,HMMPfam_V-set,HMMSmart_IG,HMMSmart_PRY,HMMPfam_SPRY,HMMSmart_SPRY	p.L344P	ENST00000244519.2	37	c.1031	CCDS4611.1	6	.	.	.	.	.	.	.	.	.	.	T	16.97	3.269962	0.59540	.	.	ENSG00000111801	ENST00000244519;ENST00000339789;ENST00000361232;ENST00000490254	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	3.06	3.06	0.35304	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.60366	0.2263	M	0.92026	3.265	0.58432	D	0.999998	D;D	0.89917	0.999;1.0	D;D	0.97110	0.998;1.0	T	0.67821	-0.5571	9	0.66056	D	0.02	.	9.7972	0.40742	0.0:0.0:0.0:1.0	.	295;344	E9PCP5;O00478	.;BT3A3_HUMAN	P	344;302;295;134	ENSP00000244519:L344P;ENSP00000344968:L302P;ENSP00000355238:L295P;ENSP00000419736:L134P	ENSP00000244519:L344P	L	+	2	0	BTN3A3	26559894	1.000000	0.71417	0.614000	0.29051	0.699000	0.40488	5.980000	0.70516	1.335000	0.45486	0.374000	0.22700	CTG	-	HMMSmart_PRY		0.557	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	BTN3A3	protein_coding	OTTHUMT00000040116.2	T	NM_006994		26559894	+1	no_errors	NM_006994	genbank	human	validated	54_36p	missense	SNP	0.999	C
FLT3	2322	genome.wustl.edu	37	13	28611346	28611346	+	Missense_Mutation	SNP	T	T	C			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr13:28611346T>C	ENST00000241453.7	-	10	1366	c.1285A>G	c.(1285-1287)Aaa>Gaa	p.K429E	FLT3_ENST00000537084.1_Missense_Mutation_p.K429E|FLT3_ENST00000380982.4_Missense_Mutation_p.K429E	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	429					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTGAACATTTTGGTAAATTGG	0.289			"""Mis, O"""		"""AML, ALL"""																																		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0			13											105.0	107.0	106.0					13																	28611346		2203	4300	6503	27509346	SO:0001583	missense	2322			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1285A>G	13.37:g.28611346T>C	ENSP00000241453:p.Lys429Glu		27509346	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	superfamily_SSF48726,HMMPfam_ig,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR	p.K429E	ENST00000241453.7	37	c.1285	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	T	18.70	3.680529	0.68042	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.77877	-1.06;-1.13;-0.86	6.08	4.88	0.63580	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80160	0.4572	L	0.29908	0.895	0.36316	D	0.857937	D;D	0.76494	0.999;0.997	D;D	0.72625	0.978;0.929	T	0.80567	-0.1325	10	0.25751	T	0.34	.	13.5183	0.61553	0.0:0.0:0.1302:0.8697	.	429;429	P36888-2;P36888	.;FLT3_HUMAN	E	429	ENSP00000241453:K429E;ENSP00000370369:K429E;ENSP00000438139:K429E	ENSP00000241453:K429E	K	-	1	0	FLT3	27509346	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	5.647000	0.67923	1.099000	0.41499	0.533000	0.62120	AAA	-	NULL		0.289	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	T			27509346	-1	no_errors	NM_004119	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
AP1B1	162	genome.wustl.edu	37	22	29735018	29735018	+	Silent	SNP	G	G	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr22:29735018G>A	ENST00000405198.1	-	15	2155	c.2124C>T	c.(2122-2124)ggC>ggT	p.G708G	AP1B1_ENST00000432560.2_Silent_p.G701G|AP1B1_ENST00000415447.1_Silent_p.G701G|AP1B1_ENST00000317368.7_Silent_p.G701G|AP1B1_ENST00000356015.2_Silent_p.G701G|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000402502.1_Silent_p.G701G|AP1B1_ENST00000357586.2_Silent_p.G708G			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	708	Pro-rich (stalk region).				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGGTGCCCACGCCACTGGTCA	0.572																																																0			22											143.0	144.0	144.0					22																	29735018		2203	4300	6503	28065018	SO:0001819	synonymous_variant	162			L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.2124C>T	22.37:g.29735018G>A			28065018	C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Silent	SNP	superfamily_ARM repeat,HMMPfam_Adaptin_N,HMMSmart_SM00185,superfamily_Clathrin adaptor appendage domain,HMMSmart_SM00809,HMMPfam_Alpha_adaptinC2,superfamily_Subdomain of clathrin and coatomer appendage domain,HMMPfam_B2-adapt-app_C	p.G708	ENST00000405198.1	37	c.2124	CCDS13855.1	22																																																																																			-	NULL		0.572	AP1B1-001	KNOWN	basic|CCDS	protein_coding	AP1B1	protein_coding	OTTHUMT00000321374.1	G	NM_001127		28065018	-1	no_errors	NM_001127	genbank	human	reviewed	54_36p	silent	SNP	0.611	A
MICB	4277	genome.wustl.edu	37	6	31473486	31473486	+	Missense_Mutation	SNP	C	C	T	rs200411452	byFrequency	TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr6:31473486C>T	ENST00000252229.6	+	2	242	c.163C>T	c.(163-165)Ccc>Tcc	p.P55S	MICB_ENST00000538442.1_Missense_Mutation_p.P23S|MICB_ENST00000399150.3_Missense_Mutation_p.P55S	NM_005931.3	NP_005922.2			MHC class I polypeptide-related sequence B											NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						GGATGGTCAGCCCTTCCTGCG	0.577													c|||	28	0.00559105	0.0166	0.0029	5008	,	,		19886	0.0		0.004	False		,,,				2504	0.0															0			6						C	SER/PRO	31,2551		0,31,1260	87.0	91.0	90.0		163	-2.3	0.0	6		90	19,5107		0,19,2544	no	missense	MICB	NM_005931.3	74	0,50,3804	TT,TC,CC		0.3707,1.2006,0.6487	probably-damaging	55/384	31473486	50,7658	1291	2563	3854	31581465	SO:0001583	missense	4277				CCDS43449.1, CCDS75422.1, CCDS75423.1	6p21.3	2013-01-11			ENSG00000204516	ENSG00000204516		"""Immunoglobulin superfamily / C1-set domain containing"""	7091	protein-coding gene	gene with protein product		602436				8022771	Standard	NM_005931		Approved	PERB11.2	uc003ntn.4	Q29980	OTTHUMG00000031074	ENST00000252229.6:c.163C>T	6.37:g.31473486C>T	ENSP00000252229:p.Pro55Ser		31581465		Missense_Mutation	SNP	superfamily_MHC antigen-recognition domain,HMMPfam_MHC_I,superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407	p.P55S	ENST00000252229.6	37	c.163	CCDS43449.1	6	.	.	.	.	.	.	.	.	.	.	N	8.006	0.756365	0.15846	0.012006	0.003707	ENSG00000204516	ENST00000538442;ENST00000399150;ENST00000252229	T;T;T	0.00675	5.88;5.88;5.88	2.68	-2.31	0.06765	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	2.218800	0.02503	U	0.090691	T	0.00967	0.0032	M	0.75615	2.305	0.09310	N	1	P;D;D	0.57899	0.956;0.965;0.981	P;P;P	0.61533	0.711;0.89;0.81	T	0.33420	-0.9869	10	0.49607	T	0.09	.	1.9003	0.03266	0.1824:0.2617:0.4172:0.1387	.	23;55;55	F5H7Q8;A2AC57;Q29980	.;.;MICB_HUMAN	S	23;55;55	ENSP00000442345:P23S;ENSP00000382103:P55S;ENSP00000252229:P55S	ENSP00000252229:P55S	P	+	1	0	MICB	31581465	0.000000	0.05858	0.001000	0.08648	0.037000	0.13140	-0.329000	0.07935	-0.406000	0.07588	0.305000	0.20034	CCC	-	superfamily_MHC antigen-recognition domain,HMMPfam_MHC_I		0.577	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICB	protein_coding	OTTHUMT00000076102.3	C	NM_005931		31581465	+1	no_errors	NM_005931	genbank	human	reviewed	54_36p	missense	SNP	0.000	T
KRT18P52	100418769	genome.wustl.edu	37	2	32048273	32048273	+	RNA	SNP	A	A	C			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr2:32048273A>C	ENST00000580521.1	-	0	0																											CAGTCAACCCAGAGCTGGCAA	0.517																																																0			2																																								31901777			339736																															2.37:g.32048273A>C			31901777		RNA	SNP	-	NULL	ENST00000580521.1	37	NULL		2																																																																																			-	-		0.517	AL121652.3-201	NOVEL	basic	miRNA	AK2P2	miRNA		A			31901777	-1	pseudogene	XR_017211	genbank	human	model	54_36p	rna	SNP	0.996	C
DPH6	89978	genome.wustl.edu	37	15	35590988	35590988	+	Intron	SNP	G	G	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr15:35590988G>T	ENST00000560386.1	-	3	200							Q7L8W6	DPH6_HUMAN	diphthamine biosynthesis 6						peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		ATP binding (GO:0005524)|diphthine-ammonia ligase activity (GO:0017178)										GGCCGGGTTGGAGATCTCGGT	0.572																																																0			15																																								33378280	SO:0001627	intron_variant	0				CCDS10043.1, CCDS45213.1	15q14	2013-06-19	2013-06-19	2013-05-02	ENSG00000134146	ENSG00000134146	6.3.1.14		30543	protein-coding gene	gene with protein product	"""diphthine--ammonia ligase"""		"""ATP binding domain 4"", ""DPH6 homolog (S. cerevisiae)"""	ATPBD4		23169644, 23468660	Standard	NM_080650		Approved	MGC14798		Q7L8W6	OTTHUMG00000129759	ENST00000560386.1:c.3238+74733C>A	15.37:g.35590988G>T			33378280	B3KWG1|Q96HJ6	RNA	SNP	-	NULL	ENST00000560386.1	37	NULL		15																																																																																			-	-		0.572	DPH6-003	KNOWN	basic	processed_transcript	LOC100128974	protein_coding	OTTHUMT00000417824.1	G	NM_080650		33378280	-1	pseudogene	XR_038065	genbank	human	model	54_36p	rna	SNP	1.000	T
CPNE1	8904	genome.wustl.edu	37	20	34219904	34219904	+	Missense_Mutation	SNP	T	T	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr20:34219904T>A	ENST00000317619.3	-	8	894	c.500A>T	c.(499-501)cAg>cTg	p.Q167L	CPNE1_ENST00000397445.1_Missense_Mutation_p.Q167L|CPNE1_ENST00000397446.1_Missense_Mutation_p.Q167L|CPNE1_ENST00000352393.4_Missense_Mutation_p.Q167L|CPNE1_ENST00000397442.1_Missense_Mutation_p.Q167L|CPNE1_ENST00000317677.5_Missense_Mutation_p.Q172L|CPNE1_ENST00000397443.1_Missense_Mutation_p.Q167L			Q99829	CPNE1_HUMAN	copine I	167	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCCATCACCCTGGCGGAAGAA	0.527																																																0			20											76.0	72.0	73.0					20																	34219904		2203	4300	6503	33683318	SO:0001583	missense	8904			U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.500A>T	20.37:g.34219904T>A	ENSP00000326126:p.Gln167Leu		33683318	E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Missense_Mutation	SNP	HMMSmart_C2,HMMPfam_C2,superfamily_C2_CaLB,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_Copine	p.Q167L	ENST00000317619.3	37	c.500	CCDS13260.1	20	.	.	.	.	.	.	.	.	.	.	t	13.01	2.108835	0.37242	.	.	ENSG00000214078	ENST00000352393;ENST00000317677;ENST00000317619;ENST00000397446;ENST00000397445;ENST00000397443;ENST00000397442;ENST00000437340;ENST00000430570;ENST00000412056;ENST00000414664;ENST00000416778;ENST00000439806;ENST00000420363;ENST00000434795;ENST00000440240	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.37235	1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.21	4.96	4.96	0.65561	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.302276	0.31392	U	0.007737	T	0.42899	0.1223	N	0.17872	0.535	0.41823	D	0.990035	D;D;D;B;D	0.67145	0.993;0.993;0.996;0.009;0.969	D;D;D;B;P	0.70487	0.955;0.955;0.969;0.004;0.873	T	0.32587	-0.9901	10	0.32370	T	0.25	-13.8564	14.4526	0.67394	0.0:0.0:0.0:1.0	.	172;167;167;167;147	B0QZ18;E7ENH5;A6PVH9;Q99829;Q59EI4	.;.;.;CPNE1_HUMAN;.	L	167;172;167;167;167;167;167;167;143;143;167;143;167;167;167;167	ENSP00000336945:Q167L;ENSP00000317257:Q172L;ENSP00000326126:Q167L;ENSP00000380588:Q167L;ENSP00000380587:Q167L;ENSP00000380585:Q167L;ENSP00000380584:Q167L;ENSP00000415597:Q167L;ENSP00000390626:Q143L;ENSP00000416962:Q143L;ENSP00000404355:Q167L;ENSP00000389662:Q143L;ENSP00000387434:Q167L;ENSP00000401915:Q167L;ENSP00000409794:Q167L;ENSP00000397638:Q167L	ENSP00000326126:Q167L	Q	-	2	0	CPNE1	33683318	0.404000	0.25328	0.998000	0.56505	0.230000	0.25150	0.909000	0.28558	2.086000	0.62901	0.456000	0.33151	CAG	-	superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2		0.527	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE1	protein_coding	OTTHUMT00000078909.3	T	NM_152930		33683318	-1	no_errors	NM_003915	genbank	human	reviewed	54_36p	missense	SNP	0.853	A
KDELR3	11015	genome.wustl.edu	37	22	38881982	38881982	+	IGR	SNP	T	T	C			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr22:38881982T>C	ENST00000216014.4	+	0	1728				DDX17_ENST00000444597.1_Silent_p.Q168Q|DDX17_ENST00000381633.3_Silent_p.Q639Q|DDX17_ENST00000396821.3_Silent_p.Q718Q	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3						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)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					gaggaggGTATTGGTAGGCAG	0.517																																					Ovarian(11;103 529 24120 28493 32980)											0			22											164.0	148.0	154.0					22																	38881982		2203	4300	6503	37211928	SO:0001628	intergenic_variant	10521			AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520		22.37:g.38881982T>C			37211928	A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Silent	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,PatternScan_DEAD_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C	p.Q718	ENST00000216014.4	37	c.2154	CCDS13972.1	22	.	.	.	.	.	.	.	.	.	.	T	7.313	0.615371	0.14129	.	.	ENSG00000100201	ENST00000404499	.	.	.	5.42	-7.84	0.01196	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0852	0.81042	0.0909:0.7396:0.0:0.1695	.	.	.	.	.	-1	.	.	.	-	.	.	DDX17	37211928	0.002000	0.14202	0.819000	0.32651	0.960000	0.62799	-1.402000	0.02499	-1.339000	0.02230	-0.994000	0.02522	.	-	NULL		0.517	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX17	protein_coding	OTTHUMT00000331474.1	T			37211928	-1	no_errors	NM_001098504	genbank	human	reviewed	54_36p	silent	SNP	0.996	C
SLC9B1P3	100421008	genome.wustl.edu	37	10	38979396	38979396	+	IGR	SNP	G	G	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr10:38979396G>T								RP11-291L22.4 (224292 upstream) : None (None downstream)																							AAATCTACCTGTGGATCGAGT	0.353																																																0			10																																								39019402	SO:0001628	intergenic_variant	727860																															10.37:g.38979396G>T			39019402		RNA	SNP	-	NULL		37	NULL		10																																																																																			-	-	0	0.353					LOC727860			G			39019402	-1	pseudogene	XR_037651	genbank	human	model	54_36p	rna	SNP	0.999	T
BRWD1	54014	genome.wustl.edu	37	21	40670383	40670383	+	Missense_Mutation	SNP	C	C	G			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr21:40670383C>G	ENST00000333229.2	-	5	651	c.324G>C	c.(322-324)agG>agC	p.R108S	BRWD1_ENST00000470108.1_5'UTR|BRWD1_ENST00000342449.3_Missense_Mutation_p.R108S|BRWD1_ENST00000380800.3_Missense_Mutation_p.R108S|BRWD1_ENST00000341322.4_Missense_Mutation_p.R108S	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	108					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GCAAAGACTGCCTTCCTGCAC	0.373																																					Melanoma(170;988 1986 4794 16843 39731)											0			21											115.0	124.0	121.0					21																	40670383		2203	4300	6503	39592253	SO:0001583	missense	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.324G>C	21.37:g.40670383C>G	ENSP00000330753:p.Arg108Ser		39592253	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40,PatternScan_WD_REPEATS_1,HMMSmart_SM00297,superfamily_Bromodomain,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1	p.R108S	ENST00000333229.2	37	c.324	CCDS13662.1	21	.	.	.	.	.	.	.	.	.	.	C	18.06	3.540067	0.65085	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800;ENST00000341322	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.55	3.73	0.42828	.	0.068493	0.64402	D	0.000012	T	0.52517	0.1739	L	0.46947	1.48	0.45056	D	0.998073	P;D;D	0.89917	0.873;1.0;0.993	B;D;P	0.74348	0.436;0.983;0.84	T	0.52305	-0.8593	10	0.56958	D	0.05	-10.9142	8.7993	0.34898	0.0:0.7119:0.0:0.2881	.	108;108;108	Q6P2D1;Q9NSI6-2;Q9NSI6	.;.;BRWD1_HUMAN	S	108	ENSP00000330753:R108S;ENSP00000344333:R108S;ENSP00000370178:R108S;ENSP00000342106:R108S	ENSP00000330753:R108S	R	-	3	2	BRWD1	39592253	0.895000	0.30542	1.000000	0.80357	0.997000	0.91878	0.010000	0.13242	1.359000	0.45940	0.467000	0.42956	AGG	-	NULL		0.373	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	protein_coding	OTTHUMT00000141398.3	C	NM_033656		39592253	-1	no_errors	NM_018963	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
ANK1	286	genome.wustl.edu	37	8	41545726	41545726	+	Silent	SNP	C	C	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr8:41545726C>T	ENST00000347528.4	-	35	4289	c.4206G>A	c.(4204-4206)caG>caA	p.Q1402Q	ANK1_ENST00000352337.4_Silent_p.Q1402Q|ANK1_ENST00000379758.2_Silent_p.Q1402Q|ANK1_ENST00000265709.8_Silent_p.Q1443Q|ANK1_ENST00000396942.1_Silent_p.Q1402Q|ANK1_ENST00000289734.7_Silent_p.Q1402Q|ANK1_ENST00000396945.1_Silent_p.Q1402Q	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1402	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCATCTCTGCCTGCTCTGTCC	0.542																																																0			8											258.0	217.0	231.0					8																	41545726		2203	4300	6503	41664883	SO:0001819	synonymous_variant	286			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4206G>A	8.37:g.41545726C>T			41664883	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_ZU5,HMMSmart_SM00218,HMMSmart_SM00005,superfamily_DEATH domain,HMMPfam_Death	p.Q1402	ENST00000347528.4	37	c.4206	CCDS6119.1	8	.	.	.	.	.	.	.	.	.	.	C	0.193	-1.051908	0.01981	.	.	ENSG00000029534	ENST00000520299	.	.	.	5.64	-6.44	0.01920	.	.	.	.	.	T	0.39279	0.1072	.	.	.	0.37692	D	0.923887	.	.	.	.	.	.	T	0.45279	-0.9272	4	.	.	.	.	4.7171	0.12899	0.1051:0.4364:0.3035:0.155	.	.	.	.	S	724	.	.	G	-	1	0	ANK1	41664883	0.136000	0.22515	0.000000	0.03702	0.098000	0.18820	-0.288000	0.08377	-0.889000	0.03950	0.563000	0.77884	GGC	-	HMMSmart_SM00005,superfamily_DEATH domain		0.542	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	protein_coding	OTTHUMT00000317297.1	C	NM_020475		41664883	-1	no_errors	NM_020476	genbank	human	reviewed	54_36p	silent	SNP	0.459	T
CATSPER2	117155	genome.wustl.edu	37	15	43939654	43939654	+	Missense_Mutation	SNP	G	G	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr15:43939654G>T	ENST00000321596.5	-	3	356	c.157C>A	c.(157-159)Cag>Aag	p.Q53K	CATSPER2_ENST00000396879.1_Missense_Mutation_p.Q53K|CATSPER2_ENST00000464721.1_5'UTR|CATSPER2_ENST00000354127.4_Missense_Mutation_p.Q53K|CATSPER2_ENST00000381761.1_Missense_Mutation_p.Q59K|CATSPER2_ENST00000355438.2_Missense_Mutation_p.Q53K|STRC_ENST00000541030.1_Intron			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	53					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AGTTTCTTCTGGCGGGAAGGA	0.443																																																0			15											73.0	84.0	80.0					15																	43939654		2199	4296	6495	41726946	SO:0001583	missense	117155			AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"""Voltage-gated ion channels / Cation channels, sperm associated"""	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.157C>A	15.37:g.43939654G>T	ENSP00000321463:p.Gln53Lys		41726946	Q8NHT9|Q96P54|Q96P55	Missense_Mutation	SNP	superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans	p.Q53K	ENST00000321596.5	37	c.157	CCDS10099.1	15	.	.	.	.	.	.	.	.	.	.	G	12.48	1.950110	0.34377	.	.	ENSG00000166762	ENST00000396879;ENST00000299989;ENST00000381761;ENST00000321596;ENST00000354127;ENST00000355438;ENST00000432420;ENST00000409481	T;T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73;1.73	3.38	1.11	0.20524	.	4.360870	0.01645	U	0.024241	T	0.32346	0.0826	M	0.72118	2.19	0.09310	N	1	P;P;P	0.44690	0.831;0.841;0.754	B;B;B	0.43052	0.384;0.406;0.23	T	0.26430	-1.0103	10	0.21540	T	0.41	.	7.2873	0.26346	0.0:0.0:0.5219:0.4781	.	53;59;53	Q96P56-4;F8W9H2;Q96P56	.;.;CTSR2_HUMAN	K	53;53;59;53;53;53;53;53	ENSP00000380088:Q53K;ENSP00000371180:Q59K;ENSP00000321463:Q53K;ENSP00000339137:Q53K;ENSP00000347613:Q53K;ENSP00000407694:Q53K;ENSP00000386595:Q53K	ENSP00000299989:Q53K	Q	-	1	0	CATSPER2	41726946	0.962000	0.33011	0.484000	0.27391	0.257000	0.26127	1.690000	0.37711	0.686000	0.31488	0.184000	0.17185	CAG	-	NULL		0.443	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CATSPER2	protein_coding	OTTHUMT00000133151.2	G	NM_054020		41726946	-1	no_errors	NM_172095	genbank	human	reviewed	54_36p	missense	SNP	0.002	T
TNFSF11	8600	genome.wustl.edu	37	13	43180995	43180995	+	Missense_Mutation	SNP	C	C	G			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr13:43180995C>G	ENST00000239849.6	+	5	1046	c.895C>G	c.(895-897)Ctg>Gtg	p.L299V	TNFSF11_ENST00000358545.2_Missense_Mutation_p.L226V|TNFSF11_ENST00000398795.2_Missense_Mutation_p.L226V|TNFSF11_ENST00000544862.1_Missense_Mutation_p.L226V|TNFSF11_ENST00000405262.2_Missense_Mutation_p.L226V			O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	299					activation of JUN kinase activity (GO:0007257)|bone resorption (GO:0045453)|calcium ion homeostasis (GO:0055074)|cytokine-mediated signaling pathway (GO:0019221)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|monocyte chemotaxis (GO:0002548)|organ morphogenesis (GO:0009887)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of bone resorption (GO:0045780)|positive regulation of corticotropin-releasing hormone secretion (GO:0051466)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast development (GO:2001206)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	cytokine activity (GO:0005125)|tumor necrosis factor receptor binding (GO:0005164)|tumor necrosis factor receptor superfamily binding (GO:0032813)			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	Denosumab(DB06643)|Lenalidomide(DB00480)	CCCCTCCTTACTGGATCCGGA	0.418																																																0			13											95.0	98.0	97.0					13																	43180995		2203	4300	6503	42078995	SO:0001583	missense	8600			AF013171	CCDS9384.1, CCDS9385.1	13q14	2008-02-05			ENSG00000120659	ENSG00000120659		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11926	protein-coding gene	gene with protein product		602642				9312132, 9367155	Standard	NM_003701		Approved	TRANCE, RANKL, OPGL, ODF, CD254	uc001uyu.2	O14788	OTTHUMG00000016807	ENST00000239849.6:c.895C>G	13.37:g.43180995C>G	ENSP00000239849:p.Leu299Val		42078995	O14723|Q96Q17|Q9P2Q3	Missense_Mutation	SNP	superfamily_TNF-like,HMMSmart_SM00207,HMMPfam_TNF	p.L299V	ENST00000239849.6	37	c.895	CCDS9384.1	13	.	.	.	.	.	.	.	.	.	.	C	9.633	1.136872	0.21123	.	.	ENSG00000120659	ENST00000358545;ENST00000405262;ENST00000239849;ENST00000398795;ENST00000544862	D;D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32;-3.32	5.74	4.01	0.46588	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.000000	0.64402	D	0.000001	D	0.90889	0.7137	N	0.16368	0.405	0.54753	D	0.999981	D	0.89917	1.0	D	0.91635	0.999	D	0.86203	0.1620	10	0.02654	T	1	-12.1267	10.251	0.43368	0.0:0.797:0.0:0.203	.	299	O14788	TNF11_HUMAN	V	226;226;299;226;226	ENSP00000351347:L226V;ENSP00000384042:L226V;ENSP00000239849:L299V;ENSP00000381775:L226V;ENSP00000444913:L226V	ENSP00000239849:L299V	L	+	1	2	TNFSF11	42078995	1.000000	0.71417	0.971000	0.41717	0.632000	0.37999	0.898000	0.28404	0.877000	0.35895	0.563000	0.77884	CTG	-	superfamily_TNF-like,HMMSmart_SM00207,HMMPfam_TNF		0.418	TNFSF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF11	protein_coding	OTTHUMT00000044702.2	C			42078995	+1	no_errors	NM_003701	genbank	human	reviewed	54_36p	missense	SNP	0.975	G
ADAMTS20	80070	genome.wustl.edu	37	12	43826516	43826516	+	Missense_Mutation	SNP	T	T	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr12:43826516T>A	ENST00000389420.3	-	20	2818	c.2819A>T	c.(2818-2820)cAg>cTg	p.Q940L	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.Q94L|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.Q940L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	940	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTGAACAGTCTGTCCTTCATG	0.423																																																0			12											200.0	171.0	181.0					12																	43826516		2203	4300	6503	42112783	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.2819A>T	12.37:g.43826516T>A	ENSP00000374071:p.Gln940Leu		42112783	A6NNC9|J3QT00	Missense_Mutation	SNP	"HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,HMMPfam_GON"	p.Q940L	ENST00000389420.3	37	c.2819	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	T	12.50	1.957627	0.34565	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.61980	0.23;0.06;0.07;0.06	4.43	4.43	0.53597	.	0.447145	0.18824	N	0.130162	T	0.47746	0.1462	L	0.38838	1.175	0.28963	N	0.889694	B;B	0.20368	0.012;0.044	B;B	0.14023	0.009;0.01	T	0.42015	-0.9476	10	0.45353	T	0.12	.	5.9595	0.19291	0.1538:0.0:0.2647:0.5815	.	940;94	P59510;E9PBD5	ATS20_HUMAN;.	L	940;106;94;940;940	ENSP00000374071:Q940L;ENSP00000447427:Q106L;ENSP00000378911:Q94L;ENSP00000448341:Q940L	ENSP00000374068:Q940L	Q	-	2	0	ADAMTS20	42112783	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	3.730000	0.55006	1.931000	0.55961	0.533000	0.62120	CAG	-	HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat		0.423	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	protein_coding	OTTHUMT00000403643.1	T	NM_025003		42112783	-1	no_errors	NM_025003	genbank	human	validated	54_36p	missense	SNP	1.000	A
SPG11	80208	genome.wustl.edu	37	15	44900695	44900695	+	Missense_Mutation	SNP	A	A	C			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr15:44900695A>C	ENST00000261866.7	-	19	3416	c.3400T>G	c.(3400-3402)Tgc>Ggc	p.C1134G	SPG11_ENST00000558319.1_Missense_Mutation_p.C1134G|SPG11_ENST00000427534.2_Missense_Mutation_p.C1134G|SPG11_ENST00000535302.2_Missense_Mutation_p.C1134G	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1134					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GGAGGAGTGCACTGTGGGAAG	0.418																																																0			15											151.0	135.0	141.0					15																	44900695		2198	4298	6496	42687987	SO:0001583	missense	80208				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.3400T>G	15.37:g.44900695A>C	ENSP00000261866:p.Cys1134Gly		42687987	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	PatternScan_GLYCOSYL_HYDROL_F1_1	p.C1134G	ENST00000261866.7	37	c.3400	CCDS10112.1	15	.	.	.	.	.	.	.	.	.	.	A	8.948	0.967397	0.18659	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.30981	1.51;1.51;1.51	5.88	4.72	0.59763	.	0.502110	0.21773	N	0.069336	T	0.21267	0.0512	N	0.22421	0.69	0.80722	D	1	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.02942	-1.1091	10	0.30078	T	0.28	.	12.1092	0.53830	0.8632:0.0:0.0:0.1368	.	1134;1134;1134	C4B7M2;F5H3N6;Q96JI7	.;.;SPTCS_HUMAN	G	1134	ENSP00000261866:C1134G;ENSP00000445278:C1134G;ENSP00000396110:C1134G	ENSP00000261866:C1134G	C	-	1	0	SPG11	42687987	0.835000	0.29415	0.886000	0.34754	0.989000	0.77384	0.450000	0.21762	0.970000	0.38263	0.533000	0.62120	TGC	-	NULL		0.418	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	protein_coding	OTTHUMT00000253927.1	A			42687987	-1	no_errors	NM_025137	genbank	human	reviewed	54_36p	missense	SNP	0.971	C
OPN5	221391	genome.wustl.edu	37	6	47754322	47754322	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr6:47754322G>A	ENST00000371211.2	+	2	230	c.202G>A	c.(202-204)Gct>Act	p.A68T	OPN5_ENST00000489301.2_Missense_Mutation_p.A68T|OPN5_ENST00000393699.2_Missense_Mutation_p.A68T	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	68					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						GCTGAGACCCGCTGAAATAAT	0.388																																					Melanoma(28;740 973 10870 42660 45347)											0			6											132.0	123.0	126.0					6																	47754322		2203	4300	6503	47862281	SO:0001583	missense	221391			AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"""GPCR / Class A : Opsin receptors"""	19992	protein-coding gene	gene with protein product	"""neuropsin"""	609042	"""transmembrane protein 13"""	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.202G>A	6.37:g.47754322G>A	ENSP00000360255:p.Ala68Thr		47862281	A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,PatternScan_OPSIN	p.A68T	ENST00000371211.2	37	c.202	CCDS4923.1	6	.	.	.	.	.	.	.	.	.	.	G	17.13	3.309648	0.60414	.	.	ENSG00000124818	ENST00000489301;ENST00000371211;ENST00000393699	T;T;T	0.33654	1.4;1.4;1.4	5.97	5.97	0.96955	GPCR, rhodopsin-like superfamily (1);	0.047479	0.85682	D	0.000000	T	0.19765	0.0475	L	0.31120	0.905	0.49915	D	0.999839	P	0.49961	0.93	B	0.43194	0.411	T	0.01914	-1.1248	10	0.15066	T	0.55	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	68	Q6U736	OPN5_HUMAN	T	68	ENSP00000426991:A68T;ENSP00000360255:A68T;ENSP00000377302:A68T	ENSP00000360255:A68T	A	+	1	0	OPN5	47862281	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.310000	0.72830	2.836000	0.97738	0.655000	0.94253	GCT	-	superfamily_SSF81321,HMMPfam_7tm_1		0.388	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPN5	protein_coding	OTTHUMT00000359451.1	G	NM_181744		47862281	+1	no_errors	NM_181744	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
GDF2	2658	genome.wustl.edu	37	10	48413728	48413728	+	Silent	SNP	C	C	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr10:48413728C>T	ENST00000249598.1	-	2	1299	c.1140G>A	c.(1138-1140)gtG>gtA	p.V380V		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	380					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						ACTTGAGATGCACCAGGGTCT	0.592																																																0			10											128.0	102.0	110.0					10																	48413728		2203	4300	6503	48033734	SO:0001819	synonymous_variant	2658			AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"""Endogenous ligands"""	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.1140G>A	10.37:g.48413728C>T			48033734	Q5VSQ9|Q9Y571	Silent	SNP	HMMPfam_TGFb_propeptide,superfamily_Cystine-knot cytokines,HMMPfam_TGF_beta,HMMSmart_SM00204,PatternScan_TGF_BETA_1	p.V380	ENST00000249598.1	37	c.1140	CCDS7219.1	10																																																																																			-	superfamily_Cystine-knot cytokines,HMMPfam_TGF_beta,HMMSmart_SM00204		0.592	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF2	protein_coding	OTTHUMT00000047891.1	C	NM_016204		48033734	-1	no_errors	NM_016204	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
CLCN5	1184	genome.wustl.edu	37	X	49851437	49851437	+	Silent	SNP	G	G	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chrX:49851437G>A	ENST00000307367.2	+	8	1548	c.1257G>A	c.(1255-1257)ccG>ccA	p.P419P	CLCN5_ENST00000376091.3_Silent_p.P489P|CLCN5_ENST00000376108.3_Silent_p.P419P|CLCN5_ENST00000376088.3_Silent_p.P489P			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	419					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					CTGACAGACCGGCTGGCGTGG	0.473																																																0			X											80.0	73.0	75.0					X																	49851437		2203	4300	6503	49738177	SO:0001819	synonymous_variant	1184			X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.1257G>A	X.37:g.49851437G>A			49738177	A1L475|B3KPN6|Q5JQD5|Q7RTN8	Silent	SNP	superfamily_Clc chloride channel,HMMPfam_Voltage_CLC,superfamily_CBS-domain,HMMSmart_SM00116,HMMPfam_CBS	p.P419	ENST00000307367.2	37	c.1257	CCDS14328.1	X																																																																																			-	superfamily_Clc chloride channel,HMMPfam_Voltage_CLC		0.473	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN5	protein_coding	OTTHUMT00000056544.1	G			49738177	+1	no_errors	NM_000084	genbank	human	reviewed	54_36p	silent	SNP	0.262	A
ACVRL1	94	genome.wustl.edu	37	12	52306961	52306961	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr12:52306961G>A	ENST00000388922.4	+	3	423	c.140G>A	c.(139-141)cGg>cAg	p.R47Q	ACVRL1_ENST00000419526.2_Intron|ACVRL1_ENST00000550683.1_Missense_Mutation_p.R61Q	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	47					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CCTACCTGCCGGGGGGCCTGG	0.682																																																0			12	GRCh37	CM060789	ACVRL1	M																																				50593228	SO:0001583	missense	94			L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.140G>A	12.37:g.52306961G>A	ENSP00000373574:p.Arg47Gln		50593228	A6NGA8	Missense_Mutation	SNP	HMMPfam_Activin_recp,superfamily_SSF57302,HMMPfam_TGF_beta_GS,HMMSmart_GS,superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.R47Q	ENST00000388922.4	37	c.140	CCDS31804.1	12	.	.	.	.	.	.	.	.	.	.	G	10.07	1.249563	0.22880	.	.	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000547400;ENST00000550683	D;D;D	0.93659	-3.26;-3.26;-3.26	5.76	0.734	0.18294	.	0.562600	0.14942	N	0.289472	T	0.80048	0.4552	N	0.05383	-0.06	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.65236	-0.6217	10	0.08179	T	0.78	.	4.955	0.14035	0.6981:0.0:0.1633:0.1386	.	47	P37023	ACVL1_HUMAN	Q	47;47;61;61	ENSP00000373574:R47Q;ENSP00000446724:R61Q;ENSP00000447884:R61Q	ENSP00000267008:R47Q	R	+	2	0	ACVRL1	50593228	0.871000	0.30034	0.999000	0.59377	0.809000	0.45718	-0.086000	0.11233	0.101000	0.17610	-0.960000	0.02634	CGG	-	HMMPfam_Activin_recp,superfamily_SSF57302		0.682	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVRL1	protein_coding	OTTHUMT00000404520.2	G			50593228	+1	no_errors	NM_000020	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
KRT83	3889	genome.wustl.edu	37	12	52710722	52710722	+	Missense_Mutation	SNP	A	A	G			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr12:52710722A>G	ENST00000293670.3	-	5	898	c.836T>C	c.(835-837)aTc>aCc	p.I279T		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	279	Coil 2.|Rod.		I -> M (in dbSNP:rs2852464). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9084137}.		aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CTCGGCAACGATGCAGTCCAT	0.592																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)											0			12											178.0	147.0	158.0					12																	52710722		2203	4300	6503	50996989	SO:0001583	missense	3889			X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6460	protein-coding gene	gene with protein product	"""hard keratin type II"""	602765	"""keratin, hair, basic, 3"""	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.836T>C	12.37:g.52710722A>G	ENSP00000293670:p.Ile279Thr		50996989	A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	HMMPfam_Filament,PatternScan_IF	p.I279T	ENST00000293670.3	37	c.836	CCDS8823.1	12	.	.	.	.	.	.	.	.	.	.	A	17.23	3.336663	0.60963	.	.	ENSG00000170523	ENST00000293670	D	0.90261	-2.64	3.9	3.9	0.45041	Filament (1);	0.648869	0.12705	U	0.446038	D	0.92080	0.7490	M	0.78801	2.425	0.33265	D	0.560229	B	0.30104	0.268	B	0.39339	0.297	D	0.94184	0.7434	10	0.72032	D	0.01	.	13.0274	0.58823	1.0:0.0:0.0:0.0	.	279	P78385	KRT83_HUMAN	T	279	ENSP00000293670:I279T	ENSP00000293670:I279T	I	-	2	0	KRT83	50996989	1.000000	0.71417	0.057000	0.19452	0.632000	0.37999	9.178000	0.94855	1.544000	0.49359	0.459000	0.35465	ATC	-	HMMPfam_Filament		0.592	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT83	protein_coding	OTTHUMT00000405182.1	A	NM_002282		50996989	-1	no_errors	NM_002282	genbank	human	reviewed	54_36p	missense	SNP	0.996	G
PNMAL2	57469	genome.wustl.edu	37	19	46997806	46997806	+	Intron	SNP	G	G	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr19:46997806G>A	ENST00000377655.2	-	1	734				PNMAL2_ENST00000599531.1_Missense_Mutation_p.P306L|AC011484.1_ENST00000377652.3_5'UTR|PNMAL2_ENST00000594749.1_Intron			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GCTGTCCACCGGCTCCTCGTC	0.572																																																0			19											62.0	65.0	64.0					19																	46997806		2203	4299	6502	51689646	SO:0001627	intron_variant	0			AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"""Paraneoplastic Ma antigens"""	29206	protein-coding gene	gene with protein product			"""PNMA-like 2"""			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.734+182C>T	19.37:g.46997806G>A			51689646	C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Missense_Mutation	SNP	NULL	p.P306L	ENST00000377655.2	37	c.917		19																																																																																			-	NULL		0.572	PNMAL2-201	KNOWN	basic	protein_coding	PNMAL2	protein_coding		G	NM_020709		51689646	-1	no_errors	NM_020709	genbank	human	validated	54_36p	missense	SNP	0.000	A
PRKG1	5592	genome.wustl.edu	37	10	54048544	54048544	+	Missense_Mutation	SNP	G	G	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr10:54048544G>T	ENST00000401604.2	+	15	1917	c.1723G>T	c.(1723-1725)Gac>Tac	p.D575Y	PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373985.1_Missense_Mutation_p.D563Y|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373975.2_Missense_Mutation_p.D293Y|PRKG1_ENST00000373980.4_Missense_Mutation_p.D590Y			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	575	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)	p.D590N(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		GAGGGGGATTGACATGATAGA	0.338																																																1	Substitution - Missense(1)	large_intestine(1)	10											96.0	98.0	97.0					10																	54048544		2203	4300	6503	53718550	SO:0001583	missense	5592				CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.1723G>T	10.37:g.54048544G>T	ENSP00000384200:p.Asp575Tyr		53718550	A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_SM00133	p.D590Y	ENST00000401604.2	37	c.1768	CCDS44399.1	10	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569842	0.86542	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000332193;ENST00000373975	T;T;T	0.64803	-0.12;-0.12;-0.12	5.26	5.26	0.73747	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	0.85682	D	0.000000	T	0.68742	0.3034	N	0.20530	0.585	0.80722	D	1	D;D;D	0.89917	0.982;1.0;1.0	D;D;D	0.81914	0.93;0.994;0.995	T	0.74166	-0.3753	10	0.87932	D	0	-7.2551	18.4561	0.90721	0.0:0.0:1.0:0.0	.	293;590;575	B3KSF3;Q13976-2;Q13976	.;.;KGP1_HUMAN	Y	575;563;590;293;187	ENSP00000384200:D575Y;ENSP00000363097:D563Y;ENSP00000363092:D590Y	ENSP00000327642:D293Y	D	+	1	0	PRKG1	53718550	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.444000	0.82710	0.655000	0.94253	GAC	-	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase		0.338	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG1	protein_coding		G			53718550	+1	no_errors	NM_006258	genbank	human	validated	54_36p	missense	SNP	1.000	T
OR2AP1	121129	genome.wustl.edu	37	12	55968885	55968885	+	Silent	SNP	C	C	G			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr12:55968885C>G	ENST00000321688.1	+	1	687	c.687C>G	c.(685-687)gcC>gcG	p.A229A	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001258285.1	NP_001245214.1	Q8NGE2	O2AP1_HUMAN	olfactory receptor, family 2, subfamily AP, member 1	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			lung(2)|ovary(1)	3						TCCCCTCTGCCCAACAAAGGA	0.448																																																0			12																																								54255152	SO:0001819	synonymous_variant	0			BK004260	CCDS58241.1	12q13.2	2012-08-09	2004-12-10	2004-03-10	ENSG00000179615	ENSG00000179615		"""GPCR / Class A : Olfactory receptors"""	15335	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily AP, member 1 pseudogene"""	OR2AP1P			Standard	NM_001258285		Approved		uc031qhr.1	Q8NGE2	OTTHUMG00000169960	ENST00000321688.1:c.687C>G	12.37:g.55968885C>G			54255152		Silent	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.A229	ENST00000321688.1	37	c.687	CCDS58241.1	12																																																																																			-	superfamily_SSF81321,HMMPfam_7tm_1		0.448	OR2AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2AP1	protein_coding	OTTHUMT00000406679.1	C			54255152	+1	no_errors	ENST00000321688	ensembl	human	known	54_36p	silent	SNP	0.002	G
PCDH15	65217	genome.wustl.edu	37	10	55944984	55944984	+	Silent	SNP	T	T	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr10:55944984T>A	ENST00000320301.6	-	12	1744	c.1350A>T	c.(1348-1350)tcA>tcT	p.S450S	PCDH15_ENST00000373965.2_Silent_p.S457S|PCDH15_ENST00000409834.1_Silent_p.S61S|PCDH15_ENST00000361849.3_Silent_p.S450S|PCDH15_ENST00000437009.1_Silent_p.S450S|PCDH15_ENST00000373957.3_Silent_p.S428S|PCDH15_ENST00000395438.1_Silent_p.S450S|PCDH15_ENST00000414778.1_Silent_p.S455S|PCDH15_ENST00000395432.2_Silent_p.S413S|PCDH15_ENST00000395433.1_Silent_p.S428S|PCDH15_ENST00000373955.1_Silent_p.S450S|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Silent_p.S457S|PCDH15_ENST00000395430.1_Silent_p.S450S|PCDH15_ENST00000395446.1_Silent_p.S450S	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	450	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CGGTGAAGACTGAGGTGTAGT	0.398										HNSCC(58;0.16)																																						0			10											166.0	149.0	155.0					10																	55944984		2203	4300	6503	55614990	SO:0001819	synonymous_variant	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1350A>T	10.37:g.55944984T>A			55614990	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like,HMMPfam_Cadherin	p.S450	ENST00000320301.6	37	c.1350	CCDS7248.1	10																																																																																			-	superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112		0.398	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	protein_coding	OTTHUMT00000048121.2	T	NM_033056		55614990	-1	no_errors	NM_033056	genbank	human	reviewed	54_36p	silent	SNP	0.965	A
NDRG4	65009	genome.wustl.edu	37	16	58538308	58538308	+	Silent	SNP	C	C	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr16:58538308C>T	ENST00000570248.1	+	4	400	c.294C>T	c.(292-294)agC>agT	p.S98S	NDRG4_ENST00000563799.1_Silent_p.S116S|NDRG4_ENST00000356752.4_Silent_p.S128S|NDRG4_ENST00000394282.4_Silent_p.S150S|NDRG4_ENST00000562999.1_Silent_p.S98S|NDRG4_ENST00000258187.5_Silent_p.S130S|NDRG4_ENST00000568640.1_Silent_p.S116S|NDRG4_ENST00000566192.1_Silent_p.S98S|NDRG4_ENST00000394279.2_Silent_p.S130S|NDRG4_ENST00000569923.1_Silent_p.S43S	NM_001242835.1	NP_001229764.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	98					cell differentiation (GO:0030154)|cell growth (GO:0016049)|response to stress (GO:0006950)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						TGCTCCCCAGCGTGGTGCAGC	0.672																																																0			16											93.0	98.0	97.0					16																	58538308		2198	4300	6498	57095809	SO:0001819	synonymous_variant	65009			AB044947	CCDS10797.1, CCDS45500.1, CCDS55999.1, CCDS58465.1, CCDS58466.1, CCDS58467.1	16q21-q22.3	2008-07-04			ENSG00000103034	ENSG00000103034			14466	protein-coding gene	gene with protein product		614463				11352569, 16408304	Standard	NM_020465		Approved	KIAA1180, SMAP-8	uc002enk.3	Q9ULP0	OTTHUMG00000133485	ENST00000570248.1:c.294C>T	16.37:g.58538308C>T			57095809	B3KNU2|B4DK66|B4DSW5|H7C600|Q6ZNE7|Q6ZTI7|Q96PL9|Q9GZM1|Q9GZN3|Q9GZX0	Silent	SNP	superfamily_SSF53474,HMMPfam_Ndr	p.S130	ENST00000570248.1	37	c.390	CCDS58466.1	16																																																																																			-	superfamily_SSF53474,HMMPfam_Ndr		0.672	NDRG4-009	KNOWN	basic|CCDS	protein_coding	NDRG4	protein_coding	OTTHUMT00000422671.2	C			57095809	+1	no_errors	NM_020465	genbank	human	reviewed	54_36p	silent	SNP	0.649	T
CACNG7	59284	genome.wustl.edu	37	19	54417766	54417766	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr19:54417766G>A	ENST00000391767.1	+	3	421	c.209G>A	c.(208-210)gGt>gAt	p.G70D	CACNG7_ENST00000391766.1_Missense_Mutation_p.G70D|CACNG7_ENST00000468076.1_Intron|CACNG7_ENST00000222212.2_Missense_Mutation_p.G70D			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	70					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CGGGAGAAAGGTCGCTGTGTG	0.557																																																0			19											68.0	60.0	63.0					19																	54417766		2203	4300	6503	59109578	SO:0001583	missense	59284			AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.209G>A	19.37:g.54417766G>A	ENSP00000375647:p.Gly70Asp		59109578	Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Missense_Mutation	SNP	HMMPfam_PMP22_Claudin	p.G70D	ENST00000391767.1	37	c.209	CCDS12868.1	19	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969087	0.74131	.	.	ENSG00000105605	ENST00000391767;ENST00000222212;ENST00000391766	D;D;D	0.89050	-2.46;-2.46;-2.46	3.14	3.14	0.36123	.	0.000000	0.85682	D	0.000000	D	0.91161	0.7216	M	0.73372	2.23	0.80722	D	1	D	0.53312	0.959	P	0.56088	0.791	D	0.90267	0.4305	10	0.38643	T	0.18	-8.4437	12.5577	0.56263	0.0:0.0:1.0:0.0	.	70	P62955	CCG7_HUMAN	D	70	ENSP00000375647:G70D;ENSP00000222212:G70D;ENSP00000375646:G70D	ENSP00000222212:G70D	G	+	2	0	CACNG7	59109578	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.208000	0.89748	2.084000	0.62774	0.561000	0.74099	GGT	-	HMMPfam_PMP22_Claudin		0.557	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG7	protein_coding	OTTHUMT00000139240.2	G			59109578	+1	no_errors	NM_031896	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
DIDO1	11083	genome.wustl.edu	37	20	61512109	61512109	+	Silent	SNP	G	G	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr20:61512109G>A	ENST00000266070.4	-	16	5524	c.5199C>T	c.(5197-5199)acC>acT	p.T1733T	DIDO1_ENST00000395343.1_Silent_p.T1733T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1733	Pro-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGAGCGGGGCGGTGCCCTCGC	0.632																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											0			20											51.0	62.0	58.0					20																	61512109		2203	4297	6500	60982554	SO:0001819	synonymous_variant	11083			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5199C>T	20.37:g.61512109G>A			60982554	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Elongation factor TFIIS domain 2,HMMPfam_TFIIS_M,HMMSmart_SM00510,HMMPfam_SPOC	p.T1733	ENST00000266070.4	37	c.5199	CCDS33506.1	20																																																																																			-	NULL		0.632	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	protein_coding	OTTHUMT00000080091.2	G	NM_080796		60982554	-1	no_errors	NM_033081	genbank	human	reviewed	54_36p	silent	SNP	0.000	A
KCNH5	27133	genome.wustl.edu	37	14	63246582	63246582	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr14:63246582G>A	ENST00000322893.7	-	10	2151	c.1883C>T	c.(1882-1884)gCg>gTg	p.A628V	KCNH5_ENST00000420622.2_Intron|KCNH5_ENST00000394968.1_Missense_Mutation_p.A570V	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	628					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CCGGACGTTCGCACATGCATG	0.453																																																0			14											104.0	91.0	96.0					14																	63246582		2203	4300	6503	62316335	SO:0001583	missense	27133			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1883C>T	14.37:g.63246582G>A	ENSP00000321427:p.Ala628Val		62316335	C9JP98	Missense_Mutation	SNP	superfamily_PYP-like sensor domain (PAS domain),HMMPfam_PAS,HMMSmart_SM00086,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding	p.A628V	ENST00000322893.7	37	c.1883	CCDS9756.1	14	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785688	0.70337	.	.	ENSG00000140015	ENST00000322893;ENST00000394968	D;D	0.94092	-3.35;-3.35	5.72	5.72	0.89469	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.96583	0.8885	M	0.78344	2.41	0.80722	D	1	D;D	0.71674	0.983;0.998	P;D	0.65684	0.66;0.937	D	0.96344	0.9253	10	0.59425	D	0.04	.	19.8759	0.96870	0.0:0.0:1.0:0.0	.	570;628	Q8NCM2-3;Q8NCM2	.;KCNH5_HUMAN	V	628;570	ENSP00000321427:A628V;ENSP00000378419:A570V	ENSP00000321427:A628V	A	-	2	0	KCNH5	62316335	1.000000	0.71417	1.000000	0.80357	0.052000	0.14988	9.864000	0.99589	2.704000	0.92352	0.585000	0.79938	GCG	-	superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding		0.453	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH5	protein_coding	OTTHUMT00000411747.1	G	NM_139318		62316335	-1	no_errors	NM_139318	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
ZNF107	51427	genome.wustl.edu	37	7	64167243	64167243	+	Silent	SNP	C	C	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr7:64167243C>T	ENST00000395391.1	+	4	1936	c.561C>T	c.(559-561)ccC>ccT	p.P187P	ZNF107_ENST00000344930.3_Silent_p.P187P|ZNF107_ENST00000423627.1_Silent_p.P187P			Q9UII5	ZN107_HUMAN	zinc finger protein 107	187					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AAGAGAAACCCAACAAATGTG	0.363																																																0			7											34.0	37.0	36.0					7																	64167243		2200	4297	6497	63804678	SO:0001819	synonymous_variant	51427			AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.561C>T	7.37:g.64167243C>T			63804678		Silent	SNP	superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.P187	ENST00000395391.1	37	c.561	CCDS5527.1	7																																																																																			-	superfamily_SSF57667		0.363	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF107	protein_coding	OTTHUMT00000251593.1	C	NM_016220		63804678	+1	no_errors	NM_001013746	genbank	human	validated	54_36p	silent	SNP	0.019	T
ROR1	4919	genome.wustl.edu	37	1	64643492	64643492	+	Missense_Mutation	SNP	G	G	A	rs374512783		TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr1:64643492G>A	ENST00000371079.1	+	9	2143	c.1768G>A	c.(1768-1770)Gga>Aga	p.G590R	ROR1_ENST00000545203.1_Missense_Mutation_p.G41R	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	590	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.G590R(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CCTGGACCACGGAGATTTTCT	0.478													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20528	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	large_intestine(1)	1						G	ARG/GLY	0,4406		0,0,2203	70.0	73.0	72.0		1768	6.0	0.7	1		72	1,8599	1.2+/-3.3	0,1,4299	no	missense	ROR1	NM_005012.2	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	590/938	64643492	1,13005	2203	4300	6503	64416080	SO:0001583	missense	4919			M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.1768G>A	1.37:g.64643492G>A	ENSP00000360120:p.Gly590Arg		64416080	Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_Fz,superfamily_Kringle-like,HMMSmart_SM00130,HMMPfam_Kringle,PatternScan_KRINGLE_1,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_TYR	p.G590R	ENST00000371079.1	37	c.1768	CCDS626.1	1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987330	0.53934	0.0	1.16E-4	ENSG00000185483	ENST00000371079;ENST00000544776;ENST00000545203	D;D	0.82081	-1.57;-1.57	5.97	5.97	0.96955	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42682	D	0.000666	T	0.58666	0.2138	N	0.04387	-0.21	0.80722	D	1	P	0.39060	0.657	B	0.38020	0.263	T	0.65084	-0.6254	10	0.23302	T	0.38	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	590	Q01973	ROR1_HUMAN	R	590;593;41	ENSP00000360120:G590R;ENSP00000441637:G41R	ENSP00000360120:G590R	G	+	1	0	ROR1	64416080	1.000000	0.71417	0.670000	0.29842	0.988000	0.76386	6.361000	0.73070	2.836000	0.97738	0.655000	0.94253	GGA	-	superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220		0.478	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR1	protein_coding	OTTHUMT00000025002.1	G	NM_005012		64416080	+1	no_errors	NM_005012	genbank	human	validated	54_36p	missense	SNP	0.997	A
HAS3	3038	genome.wustl.edu	37	16	69148781	69148781	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr16:69148781C>T	ENST00000306560.1	+	4	1430	c.1274C>T	c.(1273-1275)aCc>aTc	p.T425I	HAS3_ENST00000569188.1_Missense_Mutation_p.T425I|HAS3_ENST00000219322.3_Intron	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	425					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		ATCAAGGCCACCTACGCCTGC	0.537																																																0			16											120.0	112.0	115.0					16																	69148781		2198	4300	6498	67706282	SO:0001583	missense	3038			BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.1274C>T	16.37:g.69148781C>T	ENSP00000304440:p.Thr425Ile		67706282	A8K5T5|Q8WTZ0|Q9NYP0	Missense_Mutation	SNP	superfamily_SSF53448,HMMPfam_Glycos_transf_2	p.T425I	ENST00000306560.1	37	c.1274	CCDS10871.1	16	.	.	.	.	.	.	.	.	.	.	C	12.78	2.041709	0.35989	.	.	ENSG00000103044	ENST00000306560	T	0.41065	1.01	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.31231	0.0790	N	0.21142	0.635	0.49483	D	0.999795	B	0.11235	0.004	B	0.09377	0.004	T	0.18023	-1.0350	10	0.07990	T	0.79	-18.0988	20.2544	0.98414	0.0:1.0:0.0:0.0	.	425	O00219	HAS3_HUMAN	I	425	ENSP00000304440:T425I	ENSP00000304440:T425I	T	+	2	0	HAS3	67706282	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.044000	0.71012	2.885000	0.99019	0.655000	0.94253	ACC	-	NULL		0.537	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAS3	protein_coding	OTTHUMT00000268898.2	C	NM_138612		67706282	+1	no_errors	NM_005329	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
NFAT5	10725	genome.wustl.edu	37	16	69693665	69693665	+	Missense_Mutation	SNP	C	C	G			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr16:69693665C>G	ENST00000354436.2	+	6	1496	c.1178C>G	c.(1177-1179)gCt>gGt	p.A393G	NFAT5_ENST00000349945.1_Missense_Mutation_p.A317G|NFAT5_ENST00000432919.1_Missense_Mutation_p.A411G|NFAT5_ENST00000393742.2_Missense_Mutation_p.A317G|NFAT5_ENST00000567239.1_Missense_Mutation_p.A411G|NFAT5_ENST00000566899.1_Missense_Mutation_p.A317G	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	393	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TTGAGGAATGCTGATGTCGAA	0.363																																																0			16											132.0	126.0	128.0					16																	69693665		2198	4300	6498	68251166	SO:0001583	missense	10725			AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.1178C>G	16.37:g.69693665C>G	ENSP00000346420:p.Ala393Gly		68251166	A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	superfamily_p53-like transcription factors,HMMPfam_RHD,superfamily_E set domains,HMMSmart_SM00429,HMMPfam_TIG	p.A411G	ENST00000354436.2	37	c.1232	CCDS10881.1	16	.	.	.	.	.	.	.	.	.	.	C	28.3	4.912466	0.92178	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.08	5.08	0.68730	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.62660	0.2446	L	0.59436	1.845	0.80722	D	1	P;P;D;P	0.71674	0.73;0.855;0.998;0.46	P;P;D;B	0.79108	0.5;0.586;0.992;0.174	T	0.65768	-0.6088	10	0.72032	D	0.01	.	18.4551	0.90717	0.0:1.0:0.0:0.0	.	411;393;411;317	A2RRB4;O94916;E9PHR7;O94916-2	.;NFAT5_HUMAN;.;.	G	411;411;317;393;317	ENSP00000396538:A411G;ENSP00000338806:A317G;ENSP00000346420:A393G;ENSP00000377343:A317G	ENSP00000338806:A317G	A	+	2	0	NFAT5	68251166	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.790000	0.85794	2.361000	0.80049	0.460000	0.39030	GCT	-	superfamily_p53-like transcription factors,HMMPfam_RHD		0.363	NFAT5-001	KNOWN	basic|CCDS	protein_coding	NFAT5	protein_coding	OTTHUMT00000268952.2	C	NM_138714		68251166	+1	no_errors	NM_138713	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
PCNX	22990	genome.wustl.edu	37	14	71513768	71513768	+	Missense_Mutation	SNP	A	A	G			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr14:71513768A>G	ENST00000304743.2	+	21	4552	c.4106A>G	c.(4105-4107)aAt>aGt	p.N1369S	PCNX_ENST00000439984.3_Missense_Mutation_p.N1258S|PCNX_ENST00000238570.5_Missense_Mutation_p.N1369S	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1369						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ATTGTTCTCAATGAACTGAGC	0.393																																																0			14											111.0	106.0	107.0					14																	71513768		2203	4300	6503	70583521	SO:0001583	missense	22990			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.4106A>G	14.37:g.71513768A>G	ENSP00000304192:p.Asn1369Ser		70583521	B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	HMMPfam_Pecanex_C	p.N1369S	ENST00000304743.2	37	c.4106	CCDS9806.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.36|10.36	1.329664|1.329664	0.24167|0.24167	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000554691|ENST00000304743;ENST00000238570;ENST00000439984	.|T;T;T	.|0.09350	.|3.38;3.37;2.99	4.8|4.8	3.65|3.65	0.41850|0.41850	.|.	.|0.044078	.|0.85682	.|N	.|0.000000	T|T	0.07548|0.07548	0.0190|0.0190	L|L	0.34521|0.34521	1.04|1.04	0.54753|0.54753	D|D	0.999988|0.999988	.|P;B;B	.|0.35745	.|0.518;0.22;0.15	.|B;B;B	.|0.33690	.|0.147;0.168;0.097	T|T	0.30268|0.30268	-0.9984|-0.9984	5|10	.|0.11794	.|T	.|0.64	.|.	10.503|10.503	0.44817|0.44817	0.9225:0.0:0.0775:0.0|0.9225:0.0:0.0775:0.0	.|.	.|1369;1258;1369	.|Q96RV3-3;B2RTR6;Q96RV3	.|.;.;PCX1_HUMAN	V|S	428|1369;1369;1258	.|ENSP00000304192:N1369S;ENSP00000238570:N1369S;ENSP00000396617:N1258S	.|ENSP00000238570:N1369S	M|N	+|+	1|2	0|0	PCNX|PCNX	70583521|70583521	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	4.548000|4.548000	0.60718|0.60718	0.788000|0.788000	0.33755|0.33755	0.374000|0.374000	0.22700|0.22700	ATG|AAT	-	NULL		0.393	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNX	protein_coding	OTTHUMT00000412479.1	A	NM_014982		70583521	+1	no_errors	NM_014982	genbank	human	validated	54_36p	missense	SNP	1.000	G
ADD2	119	genome.wustl.edu	37	2	70933508	70933508	+	Silent	SNP	C	C	T	rs369382641		TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr2:70933508C>T	ENST00000264436.4	-	3	477	c.33G>A	c.(31-33)tcG>tcA	p.S11S	ADD2_ENST00000473232.1_5'Flank|ADD2_ENST00000430656.1_Silent_p.S27S|ADD2_ENST00000355733.3_Silent_p.S11S|ADD2_ENST00000407644.2_Silent_p.S11S|ADD2_ENST00000413157.2_Silent_p.S11S	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	11					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)	p.S11S(2)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GGGGCGGCGGCGAGGCAGCCT	0.642																																																2	Substitution - coding silent(2)	large_intestine(2)	2											43.0	47.0	46.0					2																	70933508		2202	4300	6502	70787016	SO:0001819	synonymous_variant	119			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.33G>A	2.37:g.70933508C>T			70787016	A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Silent	SNP	superfamily_AraD-like aldolase/epimerase,HMMPfam_Aldolase_II	p.S11	ENST00000264436.4	37	c.33	CCDS1906.1	2																																																																																			-	NULL		0.642	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADD2	protein_coding	OTTHUMT00000251918.4	C	NM_001617		70787016	-1	no_errors	NM_001617	genbank	human	reviewed	54_36p	silent	SNP	0.956	T
ABHD11	83451	genome.wustl.edu	37	7	73152009	73152009	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr7:73152009G>C	ENST00000222800.3	-	3	414	c.345C>G	c.(343-345)agC>agG	p.S115R	ABHD11_ENST00000468998.1_5'Flank|ABHD11_ENST00000458339.1_Missense_Mutation_p.S115R|LINC00035_ENST00000427153.1_RNA|ABHD11_ENST00000437775.2_Missense_Mutation_p.S108R|ABHD11_ENST00000395147.4_Missense_Mutation_p.S115R	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	115						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				TGATCTCGTAGCTCATGTCTG	0.627																																																0			7											80.0	64.0	69.0					7																	73152009		2203	4300	6503	72789945	SO:0001583	missense	83451			AF217971	CCDS5558.1, CCDS47607.1, CCDS47608.1, CCDS75615.1	7q11.23	2010-08-05	2005-01-24	2005-01-27	ENSG00000106077	ENSG00000106077		"""Abhydrolase domain containing"""	16407	protein-coding gene	gene with protein product			"""Williams Beuren syndrome chromosome region 21"""	WBSCR21		12073013	Standard	NR_026910		Approved	PP1226	uc003tzb.3	Q8NFV4	OTTHUMG00000130029	ENST00000222800.3:c.345C>G	7.37:g.73152009G>C	ENSP00000222800:p.Ser115Arg		72789945	H7BYM8|Q6PJU0|Q8N722|Q8N723|Q8NFV2|Q8NFV3|Q9HBS8	Missense_Mutation	SNP	superfamily_alpha/beta-Hydrolases,HMMPfam_Abhydrolase_1	p.S115R	ENST00000222800.3	37	c.345	CCDS5558.1	7	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560011	0.86335	.	.	ENSG00000106077	ENST00000437775;ENST00000222800;ENST00000322862;ENST00000458339;ENST00000395147	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	5.2	5.2	0.72013	.	0.046589	0.85682	D	0.000000	T	0.78349	0.4269	L	0.58302	1.8	0.58432	D	0.999996	D;D;P	0.76494	0.999;0.987;0.607	D;D;P	0.77557	0.99;0.921;0.61	T	0.80148	-0.1503	10	0.72032	D	0.01	-22.2254	14.2279	0.65873	0.0:0.0:1.0:0.0	.	115;108;115	C9J7Q4;Q8NFV4-4;Q8NFV4	.;.;ABHDB_HUMAN	R	108;115;108;115;115	ENSP00000416970:S108R;ENSP00000222800:S115R;ENSP00000397666:S115R;ENSP00000378579:S115R	ENSP00000222800:S115R	S	-	3	2	ABHD11	72789945	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	3.210000	0.51129	2.424000	0.82194	0.498000	0.49722	AGC	-	superfamily_alpha/beta-Hydrolases,HMMPfam_Abhydrolase_1		0.627	ABHD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD11	protein_coding	OTTHUMT00000252306.1	G			72789945	-1	no_errors	NM_148912	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
IDH3A	3419	genome.wustl.edu	37	15	78452454	78452454	+	Silent	SNP	G	G	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr15:78452454G>A	ENST00000299518.2	+	4	278	c.195G>A	c.(193-195)gaG>gaA	p.E65E	IDH3A_ENST00000441490.2_Intron|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000558554.1_Silent_p.E65E	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	65					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						AGTGGGAGGAGCGGAACGTCA	0.478																																																0			15											89.0	82.0	84.0					15																	78452454		2196	4293	6489	76239509	SO:0001819	synonymous_variant	3419				CCDS10297.1	15q25.1-q25.2	2008-07-18			ENSG00000166411	ENSG00000166411	1.1.1.41		5384	protein-coding gene	gene with protein product	"""H-IDH alpha"", ""isocitric dehydrogenase"", ""isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial"", ""NAD+-specific ICDH"", ""NAD(H)-specific isocitrate dehydrogenase alpha subunit"", ""isocitrate dehydrogenase (NAD+) alpha chain"""	601149				8833160	Standard	NM_005530		Approved		uc002bdd.3	P50213	OTTHUMG00000143732	ENST00000299518.2:c.195G>A	15.37:g.78452454G>A			76239509	D3DW83|Q9H3X0	Silent	SNP	superfamily_Isocitrate/Isopropylmalate dehydrogenase-like,HMMPfam_Iso_dh,PatternScan_IDH_IMDH	p.E65	ENST00000299518.2	37	c.195	CCDS10297.1	15																																																																																			-	superfamily_Isocitrate/Isopropylmalate dehydrogenase-like,HMMPfam_Iso_dh		0.478	IDH3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDH3A	protein_coding	OTTHUMT00000289799.4	G	NM_005530		76239509	+1	no_errors	NM_005530	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
ADAMTS7	11173	genome.wustl.edu	37	15	79058719	79058719	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr15:79058719C>A	ENST00000388820.4	-	19	3744	c.3534G>T	c.(3532-3534)agG>agT	p.R1178S	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1178					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CAGTGGAAACCCTGGGCCAGG	0.617																																																0			15											13.0	15.0	14.0					15																	79058719		2162	4214	6376	76845774	SO:0001583	missense	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3534G>T	15.37:g.79058719C>A	ENSP00000373472:p.Arg1178Ser		76845774	Q14F51|Q6P7J9	Missense_Mutation	SNP	"HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1"	p.R1178S	ENST00000388820.4	37	c.3534	CCDS32303.1	15	.	.	.	.	.	.	.	.	.	.	c	0.150	-1.092218	0.01858	.	.	ENSG00000136378	ENST00000388820	T	0.58506	0.33	3.41	-5.28	0.02755	.	1.515930	0.03868	N	0.275092	T	0.33498	0.0865	N	0.22421	0.69	0.09310	N	1	B	0.23442	0.085	B	0.19666	0.026	T	0.32241	-0.9914	10	0.05525	T	0.97	.	5.7144	0.17952	0.2979:0.4604:0.2416:0.0	.	1178	Q9UKP4	ATS7_HUMAN	S	1178	ENSP00000373472:R1178S	ENSP00000373472:R1178S	R	-	3	2	ADAMTS7	76845774	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.995000	0.03712	-0.881000	0.03992	-0.549000	0.04216	AGG	-	NULL		0.617	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS7	protein_coding	OTTHUMT00000421331.1	C	NM_014272		76845774	-1	no_errors	NM_014272	genbank	human	reviewed	54_36p	missense	SNP	0.000	A
AP3B1	8546	genome.wustl.edu	37	5	77477334	77477334	+	Silent	SNP	A	A	C			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr5:77477334A>C	ENST00000255194.6	-	8	1114	c.939T>G	c.(937-939)gcT>gcG	p.A313A	AP3B1_ENST00000519295.1_Silent_p.A264A	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	313					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		AACATACCGCAGCATTCCTGC	0.333									Hermansky-Pudlak syndrome																																							0			5											87.0	87.0	87.0					5																	77477334		2203	4300	6503	77513090	SO:0001819	synonymous_variant	8546	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.939T>G	5.37:g.77477334A>C			77513090	E5RJ68|O00580|Q7Z393|Q9HD66	Silent	SNP	HMMPfam_Adaptin_N,superfamily_ARM repeat	p.A313	ENST00000255194.6	37	c.939	CCDS4041.1	5																																																																																			-	HMMPfam_Adaptin_N,superfamily_ARM repeat		0.333	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B1	protein_coding	OTTHUMT00000225548.2	A			77513090	-1	no_errors	NM_003664	genbank	human	reviewed	54_36p	silent	SNP	0.860	C
SHROOM3	57619	genome.wustl.edu	37	4	77700128	77700128	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr4:77700128C>T	ENST00000296043.6	+	11	6742	c.5789C>T	c.(5788-5790)aCg>aTg	p.T1930M	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1930	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ATGAAGTCCACGCTCCTCATT	0.542																																																0			4											103.0	100.0	101.0					4																	77700128		2203	4300	6503	77919152	SO:0001583	missense	57619			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.5789C>T	4.37:g.77700128C>T	ENSP00000296043:p.Thr1930Met		77919152	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMPfam_ASD1,HMMPfam_ASD2	p.T1929M	ENST00000296043.6	37	c.5786	CCDS3579.2	4	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820523	0.71028	.	.	ENSG00000138771	ENST00000296043	T	0.30714	1.52	5.31	4.47	0.54385	Apx/shroom, ASD2 (2);	0.652135	0.15514	N	0.258405	T	0.27489	0.0675	L	0.36672	1.1	0.37705	D	0.924345	D	0.54397	0.966	B	0.41412	0.356	T	0.29366	-1.0014	10	0.87932	D	0	-4.0445	14.0021	0.64439	0.0:0.9277:0.0:0.0723	.	1930	Q8TF72	SHRM3_HUMAN	M	1930	ENSP00000296043:T1930M	ENSP00000296043:T1930M	T	+	2	0	SHROOM3	77919152	0.999000	0.42202	0.349000	0.25694	0.685000	0.39939	5.563000	0.67352	1.482000	0.48325	0.591000	0.81541	ACG	-	HMMPfam_ASD2		0.542	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM3	protein_coding	OTTHUMT00000252408.2	C	NM_020859		77919152	+1	no_errors	NM_020859	genbank	human	validated	54_36p	missense	SNP	0.960	T
HAPLN1	1404	genome.wustl.edu	37	5	82937415	82937415	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr5:82937415C>A	ENST00000274341.4	-	5	1815	c.965G>T	c.(964-966)aGa>aTa	p.R322I		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	322	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	GCAGCGCCTTCTTGGCCTAGA	0.542																																																0			5											108.0	114.0	112.0					5																	82937415		2203	4300	6503	82973171	SO:0001583	missense	1404				CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.965G>T	5.37:g.82937415C>A	ENSP00000274341:p.Arg322Ile		82973171	B2R9A9	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_V-set,HMMSmart_SM00406,HMMSmart_SM00445,HMMPfam_Xlink,superfamily_C-type lectin-like,PatternScan_LINK_1	p.R322I	ENST00000274341.4	37	c.965	CCDS4061.1	5	.	.	.	.	.	.	.	.	.	.	C	14.10	2.435702	0.43224	.	.	ENSG00000145681	ENST00000274341	T	0.10477	2.87	5.22	4.35	0.52113	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.000000	0.85682	D	0.000000	T	0.44074	0.1276	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60429	-0.7265	10	0.87932	D	0	.	13.9622	0.64188	0.0:0.927:0.0:0.073	.	322	P10915	HPLN1_HUMAN	I	322	ENSP00000274341:R322I	ENSP00000274341:R322I	R	-	2	0	HAPLN1	82973171	0.857000	0.29778	0.031000	0.17742	0.055000	0.15305	7.741000	0.84997	1.326000	0.45319	0.655000	0.94253	AGA	-	HMMSmart_SM00445,HMMPfam_Xlink,superfamily_C-type lectin-like,PatternScan_LINK_1		0.542	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAPLN1	protein_coding	OTTHUMT00000239256.2	C	NM_001884		82973171	-1	no_errors	NM_001884	genbank	human	validated	54_36p	missense	SNP	1.000	A
Unknown	0	genome.wustl.edu	37	5	86180377	86180377	+	IGR	SNP	C	C	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr5:86180377C>T								CTC-493L21.2 (84280 upstream) : RP11-72L22.1 (82760 downstream)																							AAAAACGCATCATACTTCTTG	0.488																																																0			5																																								86216133	SO:0001628	intergenic_variant	728979																															5.37:g.86180377C>T			86216133		RNA	SNP	-	NULL		37	NULL		5																																																																																			-	-	0	0.488					LOC728979			C			86216133	-1	pseudogene	XR_015799	genbank	human	model	54_36p	rna	SNP	1.000	T
GBP4	115361	genome.wustl.edu	37	1	89655818	89655818	+	Missense_Mutation	SNP	A	A	G			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr1:89655818A>G	ENST00000355754.6	-	7	1197	c.1100T>C	c.(1099-1101)cTg>cCg	p.L367P		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	367						cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		CACGTCCAGCAGCTCCTGGAG	0.572																																																0			1											81.0	76.0	78.0					1																	89655818		2203	4300	6503	89428406	SO:0001583	missense	115361			AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.1100T>C	1.37:g.89655818A>G	ENSP00000359490:p.Leu367Pro		89428406	B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	superfamily_SSF52540,HMMPfam_GBP,HMMPfam_GBP_C,superfamily_GBP	p.L367P	ENST00000355754.6	37	c.1100	CCDS721.1	1	.	.	.	.	.	.	.	.	.	.	A	17.63	3.438288	0.62955	.	.	ENSG00000162654	ENST00000355754	T	0.71222	-0.55	5.07	3.93	0.45458	Guanylate-binding protein, C-terminal (3);	0.081833	0.49916	D	0.000126	D	0.84982	0.5593	H	0.96080	3.765	0.53688	D	0.999973	D	0.89917	1.0	D	0.97110	1.0	D	0.88078	0.2805	10	0.87932	D	0	.	10.519	0.44907	0.8369:0.1631:0.0:0.0	.	367	Q96PP9	GBP4_HUMAN	P	367	ENSP00000359490:L367P	ENSP00000359490:L367P	L	-	2	0	GBP4	89428406	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	3.752000	0.55172	1.044000	0.40200	0.533000	0.62120	CTG	-	HMMPfam_GBP_C,superfamily_GBP		0.572	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP4	protein_coding	OTTHUMT00000029409.1	A	NM_052941		89428406	-1	no_errors	NM_052941	genbank	human	validated	54_36p	missense	SNP	1.000	G
EEA1	8411	genome.wustl.edu	37	12	93247726	93247726	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr12:93247726G>C	ENST00000322349.8	-	6	635	c.371C>G	c.(370-372)gCc>gGc	p.A124G		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	124					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						ATCAGGTTTGGCCTCCTCAAT	0.299																																																0			12											44.0	41.0	42.0					12																	93247726		2203	4298	6501	91771857	SO:0001583	missense	8411			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.371C>G	12.37:g.93247726G>C	ENSP00000317955:p.Ala124Gly		91771857	Q14221	Missense_Mutation	SNP	HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_FYVE_PHD_ZnF,HMMSmart_FYVE,HMMPfam_FYVE	p.A124G	ENST00000322349.8	37	c.371	CCDS31874.1	12	.	.	.	.	.	.	.	.	.	.	G	5.331	0.246467	0.10130	.	.	ENSG00000102189	ENST00000322349;ENST00000540777	T	0.66099	-0.19	5.6	3.41	0.39046	.	0.303339	0.23700	N	0.045438	T	0.41166	0.1147	N	0.14661	0.345	0.09310	N	1	B	0.17038	0.02	B	0.14023	0.01	T	0.21724	-1.0237	10	0.29301	T	0.29	.	9.4147	0.38514	0.09:0.1502:0.7598:0.0	.	124	Q15075	EEA1_HUMAN	G	124;123	ENSP00000317955:A124G	ENSP00000317955:A124G	A	-	2	0	EEA1	91771857	0.866000	0.29940	0.745000	0.31077	0.314000	0.28054	1.945000	0.40273	1.341000	0.45600	-0.282000	0.10007	GCC	-	NULL		0.299	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEA1	protein_coding	OTTHUMT00000407304.1	G	NM_003566		91771857	-1	no_errors	NM_003566	genbank	human	validated	54_36p	missense	SNP	0.165	C
TSGA10	80705	genome.wustl.edu	37	2	99614684	99614684	+	Splice_Site	SNP	C	C	G			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr2:99614684C>G	ENST00000393483.3	-	21	2917	c.2073G>C	c.(2071-2073)gaG>gaC	p.E691D	TSGA10_ENST00000355053.4_Splice_Site_p.E691D|TSGA10_ENST00000539964.1_Splice_Site_p.E691D|TSGA10_ENST00000410001.1_Splice_Site_p.E691D	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	691					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						AGCAAAGATTCCTATAAGAGA	0.299																																																0			2											51.0	56.0	55.0					2																	99614684		2203	4297	6500	98981116	SO:0001630	splice_region_variant	80705			AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.2073-1G>C	2.37:g.99614684C>G			98981116	B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	NULL	p.E691D	ENST00000393483.3	37	c.2073	CCDS2037.1	2	.	.	.	.	.	.	.	.	.	.	C	11.24	1.579688	0.28180	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.54	4.54	0.55810	.	0.307941	0.25439	N	0.030673	T	0.47469	0.1447	N	0.22421	0.69	0.80722	D	1	P	0.49696	0.927	P	0.56563	0.801	T	0.39143	-0.9628	10	0.38643	T	0.18	.	12.6395	0.56702	0.0:1.0:0.0:0.0	.	691	Q9BZW7	TSG10_HUMAN	D	691	ENSP00000377123:E691D;ENSP00000386956:E691D;ENSP00000347161:E691D;ENSP00000444419:E691D	ENSP00000347161:E691D	E	-	3	2	TSGA10	98981116	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.289000	0.51747	2.352000	0.79861	0.650000	0.86243	GAG	-	NULL		0.299	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSGA10	protein_coding	OTTHUMT00000253125.1	C	NM_182911	Missense_Mutation	98981116	-1	no_errors	NM_025244	genbank	human	validated	54_36p	missense	SNP	1.000	G
MUC17	140453	genome.wustl.edu	37	7	100680734	100680734	+	Missense_Mutation	SNP	A	A	G			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr7:100680734A>G	ENST00000306151.4	+	3	6101	c.6037A>G	c.(6037-6039)Agc>Ggc	p.S2013G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2013	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGTTGACACCAGCACTCCTGC	0.502																																																0			7											217.0	203.0	208.0					7																	100680734		2203	4300	6503	100467454	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6037A>G	7.37:g.100680734A>G	ENSP00000302716:p.Ser2013Gly		100467454	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	superfamily_EGF/Laminin,PatternScan_EGF_1,superfamily_SEA domain,HMMSmart_SM00200,HMMPfam_SEA	p.S2013G	ENST00000306151.4	37	c.6037	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	A	4.383	0.070624	0.08436	.	.	ENSG00000169876	ENST00000306151	T	0.02552	4.25	1.0	1.0	0.19881	.	.	.	.	.	T	0.02156	0.0067	L	0.27053	0.805	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.47560	-0.9108	9	0.20519	T	0.43	.	6.2388	0.20778	1.0:0.0:0.0:0.0	.	2013	Q685J3	MUC17_HUMAN	G	2013	ENSP00000302716:S2013G	ENSP00000302716:S2013G	S	+	1	0	MUC17	100467454	0.000000	0.05858	0.004000	0.12327	0.005000	0.04900	-0.137000	0.10389	0.714000	0.32081	0.113000	0.15668	AGC	-	NULL		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	protein_coding	OTTHUMT00000347161.1	A	NM_001040105		100467454	+1	no_errors	NM_001040105	genbank	human	provisional	54_36p	missense	SNP	0.370	G
KDELC1	79070	genome.wustl.edu	37	13	103450935	103450935	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr13:103450935G>A	ENST00000376004.4	-	1	422	c.86C>T	c.(85-87)cCg>cTg	p.P29L	BIVM_ENST00000257336.1_5'Flank|KDELC1_ENST00000460338.1_5'UTR|BIVM_ENST00000448849.2_5'Flank|BIVM_ENST00000419638.1_5'Flank	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	29						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GCTCTTCTCCGGGCTCAGCTG	0.517																																																0			13											64.0	62.0	63.0					13																	103450935		2203	4300	6503	102248936	SO:0001583	missense	79070			BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.86C>T	13.37:g.103450935G>A	ENSP00000365172:p.Pro29Leu		102248936	Q53HL3|Q9BVD2	Missense_Mutation	SNP	HMMPfam_Filamin,superfamily_Ig_E-set,HMMSmart_IG_FLMN,HMMPfam_DUF821,HMMSmart_CAP10,PatternScan_ER_TARGET	p.P29L	ENST00000376004.4	37	c.86	CCDS9504.1	13	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883994	0.91814	.	.	ENSG00000134901	ENST00000376004	T	0.28666	1.6	5.32	4.47	0.54385	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.112447	0.64402	D	0.000011	T	0.53753	0.1816	M	0.73217	2.22	0.58432	D	0.999992	D	0.71674	0.998	D	0.67231	0.95	T	0.59064	-0.7524	10	0.59425	D	0.04	.	15.9607	0.79928	0.0:0.1353:0.8647:0.0	.	29	Q6UW63	KDEL1_HUMAN	L	29	ENSP00000365172:P29L	ENSP00000365172:P29L	P	-	2	0	KDELC1	102248936	1.000000	0.71417	0.931000	0.37212	0.984000	0.73092	6.813000	0.75231	1.359000	0.45940	-0.182000	0.12963	CCG	-	HMMPfam_Filamin,superfamily_Ig_E-set,HMMSmart_IG_FLMN		0.517	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDELC1	protein_coding	OTTHUMT00000045699.1	G			102248936	-1	no_errors	NM_024089	genbank	human	reviewed	54_36p	missense	SNP	0.985	A
ACTL7A	10881	genome.wustl.edu	37	9	111624682	111624682	+	Missense_Mutation	SNP	C	C	T	rs559552010		TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr9:111624682C>T	ENST00000333999.3	+	1	80	c.80C>T	c.(79-81)gCc>gTc	p.A27V		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	27						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|motile cilium (GO:0031514)|nucleus (GO:0005634)|protein complex (GO:0043234)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CAGACACAGGCCCTCCAGACT	0.617																																					Esophageal Squamous(177;1480 3591 17554)											0			9											36.0	43.0	41.0					9																	111624682		2203	4300	6503	110664503	SO:0001583	missense	10881			BC014610	CCDS6772.1	9q31	2008-02-05			ENSG00000187003	ENSG00000187003			161	protein-coding gene	gene with protein product		604303				10373328	Standard	NM_006687		Approved		uc004bdj.1	Q9Y615	OTTHUMG00000020461	ENST00000333999.3:c.80C>T	9.37:g.111624682C>T	ENSP00000334300:p.Ala27Val		110664503	B2RC83|Q5JSV0	Missense_Mutation	SNP	HMMPfam_Actin,superfamily_Actin-like ATPase domain,HMMSmart_SM00268	p.A27V	ENST00000333999.3	37	c.80	CCDS6772.1	9	.	.	.	.	.	.	.	.	.	.	C	7.267	0.606380	0.14002	.	.	ENSG00000187003	ENST00000333999	D	0.94687	-3.49	5.08	-3.14	0.05250	.	1.852020	0.03143	N	0.166886	D	0.86748	0.6007	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.77568	-0.2539	10	0.72032	D	0.01	.	7.7755	0.29035	0.0:0.6555:0.1548:0.1897	.	27	Q9Y615	ACL7A_HUMAN	V	27	ENSP00000334300:A27V	ENSP00000334300:A27V	A	+	2	0	ACTL7A	110664503	0.000000	0.05858	0.086000	0.20670	0.931000	0.56810	-1.829000	0.01701	-0.314000	0.08716	0.655000	0.94253	GCC	-	NULL		0.617	ACTL7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL7A	protein_coding	OTTHUMT00000053570.1	C	NM_006687		110664503	+1	no_errors	NM_006687	genbank	human	reviewed	54_36p	missense	SNP	0.038	T
CDC16	8881	genome.wustl.edu	37	13	115030666	115030666	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr13:115030666G>C	ENST00000356221.3	+	17	1662	c.1554G>C	c.(1552-1554)atG>atC	p.M518I	CDC16_ENST00000252457.5_Missense_Mutation_p.M517I|CDC16_ENST00000375312.3_Missense_Mutation_p.M373I|CDC16_ENST00000375310.1_Missense_Mutation_p.M424I|CDC16_ENST00000252458.6_Missense_Mutation_p.M373I|CDC16_ENST00000461716.1_3'UTR|CDC16_ENST00000360383.3_Missense_Mutation_p.M518I|CDC16_ENST00000375308.1_Missense_Mutation_p.M424I			Q13042	CDC16_HUMAN	cell division cycle 16	518					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	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)			CTGTTACAATGCTTGGTCATT	0.348																																																0			13											341.0	320.0	327.0					13																	115030666		2203	4300	6503	114048768	SO:0001583	missense	8881			U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1720	protein-coding gene	gene with protein product	"""anaphase-promoting complex, subunit 6"""	603461	"""CDC16 (cell division cycle 16, S. cerevisiae, homolog)"", ""CDC16 cell division cycle 16 homolog (S. cerevisiae)"", ""cell division cycle 16 homolog (S. cerevisiae)"""			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.1554G>C	13.37:g.115030666G>C	ENSP00000348554:p.Met518Ile		114048768	A2A365|Q5T8C8|Q96AE6|Q9Y564	Missense_Mutation	SNP	superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028	p.M518I	ENST00000356221.3	37	c.1554	CCDS9542.2	13	.	.	.	.	.	.	.	.	.	.	G	17.69	3.453051	0.63290	.	.	ENSG00000130177	ENST00000360383;ENST00000375312;ENST00000356221;ENST00000375310;ENST00000252457;ENST00000375308;ENST00000252458	T;T	0.76060	-0.99;-0.99	5.79	5.79	0.91817	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.65575	0.2704	N	0.24115	0.695	0.80722	D	1	B;B;B	0.19073	0.023;0.033;0.019	B;B;B	0.26614	0.071;0.03;0.02	T	0.58381	-0.7646	9	.	.	.	-13.5267	20.0193	0.97489	0.0:0.0:1.0:0.0	.	466;517;518	Q13042-3;Q13042-2;Q13042	.;.;CDC16_HUMAN	I	518;373;518;424;517;424;373	ENSP00000364461:M373I;ENSP00000252458:M373I	.	M	+	3	0	CDC16	114048768	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.581000	0.90788	2.739000	0.93911	0.650000	0.86243	ATG	-	superfamily_TPR-like		0.348	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDC16	protein_coding	OTTHUMT00000276737.1	G	NM_003903		114048768	+1	no_errors	NM_001078645	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
SLC35F5	80255	genome.wustl.edu	37	2	114489221	114489221	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr2:114489221C>T	ENST00000245680.2	-	10	1338	c.925G>A	c.(925-927)Gga>Aga	p.G309R	SLC35F5_ENST00000470204.2_5'Flank	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	309	EamA.				transport (GO:0006810)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						ACAACGCCTCCAATGCTATGA	0.368																																																0			2											110.0	109.0	109.0					2																	114489221		2203	4300	6503	114205691	SO:0001583	missense	80255			AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"""Solute carriers"""	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.925G>A	2.37:g.114489221C>T	ENSP00000245680:p.Gly309Arg		114205691	Q9H6P8|Q9H7D8	Missense_Mutation	SNP	superfamily_Multidrug resistance efflux transporter EmrE,HMMPfam_DUF6	p.G309R	ENST00000245680.2	37	c.925	CCDS2119.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.2|24.2	4.503184|4.503184	0.85176|0.85176	.|.	.|.	ENSG00000115084|ENSG00000115084	ENST00000245680;ENST00000409106|ENST00000447673	T;T|.	0.52295|.	0.67;0.67|.	5.89|5.89	5.89|5.89	0.94794|0.94794	Drug/metabolite transporter (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76090|.	0.3939|.	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	D|.	0.67145|.	0.996|.	D|.	0.70016|.	0.967|.	T|.	0.74084|.	-0.3779|.	10|.	0.25751|.	T|.	0.34|.	-14.3304|-14.3304	18.4382|18.4382	0.90654|0.90654	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	309|.	Q8WV83|.	S35F5_HUMAN|.	R|X	309;303|71	ENSP00000245680:G309R;ENSP00000386754:G303R|.	ENSP00000245680:G309R|.	G|W	-|-	1|2	0|0	SLC35F5|SLC35F5	114205691|114205691	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.800000|5.800000	0.69108|0.69108	2.783000|2.783000	0.95769|0.95769	0.655000|0.655000	0.94253|0.94253	GGA|TGG	-	superfamily_Multidrug resistance efflux transporter EmrE,HMMPfam_DUF6		0.368	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35F5	protein_coding	OTTHUMT00000254150.1	C	NM_025181		114205691	-1	no_errors	NM_025181	genbank	human	provisional	54_36p	missense	SNP	1.000	T
HIP1R	9026	genome.wustl.edu	37	12	123332626	123332626	+	Nonsense_Mutation	SNP	G	G	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr12:123332626G>T	ENST00000253083.4	+	2	267	c.142G>T	c.(142-144)Gag>Tag	p.E48*		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	48	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CCCCGTGAAGGAGAAGCACGC	0.632																																																0			12											79.0	71.0	74.0					12																	123332626		2203	4300	6503	121898579	SO:0001587	stop_gained	9026			AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.142G>T	12.37:g.123332626G>T	ENSP00000253083:p.Glu48*		121898579	A6NHQ6|Q6NXG8|Q9UED9	Nonsense_Mutation	SNP	HMMPfam_ANTH,superfamily_ENTH_VHS,HMMSmart_ENTH,superfamily_SSF109885,HMMSmart_ILWEQ,HMMPfam_I_LWEQ	p.E48*	ENST00000253083.4	37	c.142	CCDS31922.1	12	.	.	.	.	.	.	.	.	.	.	G	37	6.304187	0.97458	.	.	ENSG00000130787	ENST00000253083	.	.	.	4.56	4.56	0.56223	.	0.101220	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-31.5716	17.3404	0.87294	0.0:0.0:1.0:0.0	.	.	.	.	X	48	.	ENSP00000253083:E48X	E	+	1	0	HIP1R	121898579	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.411000	0.97342	2.063000	0.61619	0.462000	0.41574	GAG	-	HMMPfam_ANTH,superfamily_ENTH_VHS,HMMSmart_ENTH		0.632	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIP1R	protein_coding	OTTHUMT00000400935.1	G	NM_003959		121898579	+1	no_errors	NM_003959	genbank	human	validated	54_36p	nonsense	SNP	1.000	T
SETD8	387893	genome.wustl.edu	37	12	123892121	123892121	+	Silent	SNP	C	C	T	rs200452780		TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr12:123892121C>T	ENST00000402868.3	+	8	1356	c.930C>T	c.(928-930)caC>caT	p.H310H	SETD8_ENST00000330479.4_Silent_p.H310H			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	351	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		CCAAACTGCACGACATCGACG	0.572																																																0			12											109.0	80.0	90.0					12																	123892121		2203	4298	6501	122458074	SO:0001819	synonymous_variant	387893			AY102937	CCDS9247.1	12q24.31	2011-07-01			ENSG00000183955	ENSG00000183955		"""Chromatin-modifying enzymes / K-methyltransferases"""	29489	protein-coding gene	gene with protein product		607240				15933070, 12086618, 12121615	Standard	NM_020382		Approved	SET8, SET07, PR-Set7, KMT5A	uc001uew.3	Q9NQR1	OTTHUMG00000150477	ENST00000402868.3:c.930C>T	12.37:g.123892121C>T			122458074	A8K9D0|Q86W83|Q8TD09	Silent	SNP	superfamily_SSF82199,HMMPfam_SET,HMMSmart_SET	p.H310	ENST00000402868.3	37	c.930	CCDS9247.1	12																																																																																			-	superfamily_SSF82199,HMMPfam_SET,HMMSmart_SET		0.572	SETD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD8	protein_coding	OTTHUMT00000318263.1	C	NM_020382		122458074	+1	no_errors	NM_020382	genbank	human	validated	54_36p	silent	SNP	1.000	T
SPAM1	6677	genome.wustl.edu	37	7	123593871	123593871	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr7:123593871G>A	ENST00000439500.1	+	4	860	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	SPAM1_ENST00000460182.1_Missense_Mutation_p.A83T|SPAM1_ENST00000340011.5_Missense_Mutation_p.A83T|SPAM1_ENST00000402183.2_Missense_Mutation_p.A83T|SPAM1_ENST00000223028.7_Missense_Mutation_p.A83T	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	83					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCGAATAAACGCCACCGGGCA	0.443																																																0			7											48.0	47.0	47.0					7																	123593871		2203	4299	6502	123381107	SO:0001583	missense	6677			L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.247G>A	7.37:g.123593871G>A	ENSP00000402123:p.Ala83Thr		123381107	Q8TC30	Missense_Mutation	SNP	HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat	p.A83T	ENST00000439500.1	37	c.247	CCDS5791.1	7	.	.	.	.	.	.	.	.	.	.	G	13.01	2.110218	0.37242	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	6.03	-10.3	0.00346	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	2.968830	0.00589	N	0.000344	T	0.19604	0.0471	L	0.57536	1.79	0.09310	N	1	B;P	0.35242	0.275;0.492	B;B	0.33750	0.11;0.169	T	0.08700	-1.0709	9	.	.	.	1.8871	4.5959	0.12329	0.5201:0.0726:0.0973:0.3099	.	83;83	Q8TC30;P38567	.;HYALP_HUMAN	T	83	ENSP00000386028:A83T;ENSP00000417934:A83T;ENSP00000345849:A83T;ENSP00000402123:A83T;ENSP00000223028:A83T	.	A	+	1	0	SPAM1	123381107	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.373000	0.07494	-2.605000	0.00448	-0.700000	0.03674	GCC	-	HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat		0.443	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPAM1	protein_coding	OTTHUMT00000348309.1	G			123381107	+1	no_errors	NM_003117	genbank	human	reviewed	54_36p	missense	SNP	0.000	A
VWA5A	4013	genome.wustl.edu	37	11	123994127	123994127	+	Missense_Mutation	SNP	T	T	C			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr11:123994127T>C	ENST00000456829.2	+	9	1236	c.985T>C	c.(985-987)Tat>Cat	p.Y329H	VWA5A_ENST00000361352.5_Missense_Mutation_p.Y329H|VWA5A_ENST00000392744.4_Missense_Mutation_p.Y345H|VWA5A_ENST00000392748.1_Missense_Mutation_p.Y329H|VWA5A_ENST00000360334.4_Missense_Mutation_p.Y329H|VWA5A_ENST00000449321.1_Missense_Mutation_p.Y329H	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	329	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TTTCAACATCTATGGATTTGG	0.403																																																0			11											131.0	129.0	130.0					11																	123994127		2201	4299	6500	123499337	SO:0001583	missense	4013			AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.985T>C	11.37:g.123994127T>C	ENSP00000407726:p.Tyr329His		123499337	Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	HMMSmart_SM00609,HMMPfam_VIT,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA	p.Y329H	ENST00000456829.2	37	c.985	CCDS8444.1	11	.	.	.	.	.	.	.	.	.	.	T	21.1	4.096098	0.76870	.	.	ENSG00000110002	ENST00000456829;ENST00000360334;ENST00000392748;ENST00000361352;ENST00000449321;ENST00000392744	T;T;T;T;T;T	0.22945	2.53;1.93;2.53;3.16;3.16;3.16	5.96	4.83	0.62350	von Willebrand factor, type A (3);	0.371383	0.31612	N	0.007346	T	0.50069	0.1594	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.987;0.992	T	0.51880	-0.8649	10	0.49607	T	0.09	-13.7139	5.4164	0.16376	0.1542:0.0814:0.0:0.7644	.	345;329	B4DHS6;O00534	.;VMA5A_HUMAN	H	329;329;329;329;329;345	ENSP00000407726:Y329H;ENSP00000353485:Y329H;ENSP00000376504:Y329H;ENSP00000355070:Y329H;ENSP00000404683:Y329H;ENSP00000376501:Y345H	ENSP00000353485:Y329H	Y	+	1	0	VWA5A	123499337	1.000000	0.71417	0.968000	0.41197	0.998000	0.95712	4.212000	0.58514	1.087000	0.41251	0.533000	0.62120	TAT	-	superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA		0.403	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA5A	protein_coding	OTTHUMT00000387273.1	T	NM_014622		123499337	+1	no_errors	NM_014622	genbank	human	validated	54_36p	missense	SNP	1.000	C
DENND1A	57706	genome.wustl.edu	37	9	126144764	126144764	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr9:126144764C>A	ENST00000373624.2	-	22	2178	c.1977G>T	c.(1975-1977)aaG>aaT	p.K659N	DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Missense_Mutation_p.K670N|DENND1A_ENST00000542603.1_Missense_Mutation_p.K444N	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	659	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GGGCTGAGGGCTTCTCAGGGG	0.647																																																0			9											48.0	52.0	51.0					9																	126144764		2203	4300	6503	125184585	SO:0001583	missense	57706			AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.1977G>T	9.37:g.126144764C>A	ENSP00000362727:p.Lys659Asn		125184585	A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	HMMPfam_uDENN,HMMSmart_SM00800,HMMPfam_DENN,HMMSmart_SM00799,HMMPfam_dDENN,HMMSmart_SM00801	p.K659N	ENST00000373624.2	37	c.1977	CCDS35133.1	9	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093615	0.36952	.	.	ENSG00000119522	ENST00000373624;ENST00000542603;ENST00000394219	T;T;T	0.25250	3.29;1.81;3.13	5.06	4.15	0.48705	.	0.374120	0.28371	N	0.015584	T	0.33876	0.0878	L	0.51422	1.61	0.80722	D	1	D;D;P;P	0.59357	0.968;0.985;0.704;0.651	P;P;B;B	0.54889	0.695;0.763;0.42;0.198	T	0.03017	-1.1082	10	0.49607	T	0.09	-22.8689	9.5825	0.39497	0.0:0.781:0.0:0.219	.	670;660;659;522	Q8TEH3-6;Q8TEH3-7;Q8TEH3;Q9HCG4	.;.;DEN1A_HUMAN;.	N	659;444;670	ENSP00000362727:K659N;ENSP00000437457:K444N;ENSP00000377766:K670N	ENSP00000362727:K659N	K	-	3	2	DENND1A	125184585	1.000000	0.71417	1.000000	0.80357	0.195000	0.23768	0.760000	0.26475	2.352000	0.79861	0.563000	0.77884	AAG	-	NULL		0.647	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DENND1A	protein_coding	OTTHUMT00000053997.1	C	NM_024820		125184585	-1	no_errors	NM_020946	genbank	human	validated	54_36p	missense	SNP	0.983	A
STK26	51765	genome.wustl.edu	37	X	131188771	131188771	+	Missense_Mutation	SNP	T	T	G			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chrX:131188771T>G	ENST00000354719.6	+	3	371	c.155T>G	c.(154-156)aTt>aGt	p.I52S	MST4_ENST00000394334.2_Missense_Mutation_p.I52S|MST4_ENST00000394335.2_Intron|MST4_ENST00000496850.1_Missense_Mutation_p.I52S|MST4_ENST00000481105.1_Missense_Mutation_p.I52S																endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					GTCGTTGCTATTAAAATCATA	0.388																																																0			X											81.0	75.0	77.0					X																	131188771		2203	4300	6503	131016452	SO:0001583	missense	51765																														ENST00000354719.6:c.155T>G	X.37:g.131188771T>G	ENSP00000346755:p.Ile52Ser		131016452		Missense_Mutation	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP	p.I52S	ENST00000354719.6	37	c.155		X	.	.	.	.	.	.	.	.	.	.	T	23.7	4.449332	0.84101	.	.	ENSG00000134602	ENST00000394334;ENST00000481105;ENST00000354719;ENST00000496850	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.3	5.3	0.74995	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	0.64402	D	0.000003	T	0.59662	0.2210	M	0.85542	2.76	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;0.999	D;D;D;D	0.77557	0.979;0.99;0.989;0.99	T	0.67078	-0.5761	10	0.87932	D	0	.	14.2816	0.66216	0.0:0.0:0.0:1.0	.	52;52;52;52	B4E0Y9;Q8NBY1;Q9P289-3;Q9P289	.;.;.;MST4_HUMAN	S	52	ENSP00000377867:I52S;ENSP00000418753:I52S;ENSP00000346755:I52S;ENSP00000419702:I52S	ENSP00000346755:I52S	I	+	2	0	AL109749.1	131016452	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.868000	0.87116	1.949000	0.56562	0.481000	0.45027	ATT	-	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP		0.388	MST4-002	NOVEL	basic|exp_conf	protein_coding	MST4	protein_coding	OTTHUMT00000058308.2	T			131016452	+1	no_errors	NM_016542	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
LOC401010	401010	genome.wustl.edu	37	2	132200436	132200436	+	IGR	SNP	G	G	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr2:132200436G>A								AC073869.19 (33814 upstream) : RP11-109E12.1 (18957 downstream)																							CCTCGGTGTCGTCCTCTTCAC	0.537																																																0			2																																								131916906	SO:0001628	intergenic_variant	401010																															2.37:g.132200436G>A			131916906		RNA	SNP	-	NULL		37	NULL		2																																																																																			-	-	0	0.537					LOC401010			G			131916906	-1	pseudogene	NR_002826	genbank	human	validated	54_36p	rna	SNP	0.459	A
SLC2A6	11182	genome.wustl.edu	37	9	136341446	136341446	+	Missense_Mutation	SNP	C	C	G			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr9:136341446C>G	ENST00000371899.4	-	4	552	c.475G>C	c.(475-477)Gag>Cag	p.E159Q	SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Missense_Mutation_p.E159Q	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	159					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GGAGCAATCTCAGACACGTAC	0.622																																																0			9											58.0	51.0	54.0					9																	136341446		2201	4300	6501	135331267	SO:0001583	missense	11182			AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326		"""Solute carriers"""	11011	protein-coding gene	gene with protein product		606813				10970791	Standard	NM_001145099		Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.475G>C	9.37:g.136341446C>G	ENSP00000360966:p.Glu159Gln		135331267	A6NNU6|Q5SXD7|Q8NCC2	Missense_Mutation	SNP	superfamily_MFS_gen_substrate_transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_2,PatternScan_SUGAR_TRANSPORT_1	p.E159Q	ENST00000371899.4	37	c.475	CCDS6975.1	9	.	.	.	.	.	.	.	.	.	.	C	25.2	4.618104	0.87359	.	.	ENSG00000160326	ENST00000371897;ENST00000371899;ENST00000432868;ENST00000414172	D;D;D	0.86097	-2.07;-2.07;-2.07	4.98	4.98	0.66077	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.95510	0.8541	H	0.98027	4.13	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.998;0.999	D	0.97456	1.0031	10	0.87932	D	0	.	17.2339	0.86992	0.0:1.0:0.0:0.0	.	159;159;159;159	B4DH85;F2Z2F6;Q9UGQ3-2;Q9UGQ3	.;.;.;GTR6_HUMAN	Q	159;159;159;86	ENSP00000360964:E159Q;ENSP00000360966:E159Q;ENSP00000405124:E159Q	ENSP00000360964:E159Q	E	-	1	0	SLC2A6	135331267	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	7.138000	0.77305	2.286000	0.76751	0.655000	0.94253	GAG	-	superfamily_MFS_gen_substrate_transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_2		0.622	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A6	protein_coding	OTTHUMT00000054909.1	C	NM_017585		135331267	-1	no_errors	NM_017585	genbank	human	validated	54_36p	missense	SNP	1.000	G
SARDH	1757	genome.wustl.edu	37	9	136598970	136598970	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr9:136598970G>A	ENST00000371872.4	-	2	583	c.326C>T	c.(325-327)aCg>aTg	p.T109M	SARDH_ENST00000422262.2_Intron|SARDH_ENST00000371867.1_Missense_Mutation_p.T20M|SARDH_ENST00000439388.1_Missense_Mutation_p.T109M|SARDH_ENST00000298628.5_Missense_Mutation_p.T109M	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	109					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CCTACCTGCCGTGTGCCAGGT	0.652																																																0			9											9.0	7.0	7.0					9																	136598970		2147	4194	6341	135588791	SO:0001583	missense	1757				CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.326C>T	9.37:g.136598970G>A	ENSP00000360938:p.Thr109Met		135588791	B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	superfamily_SSF51905,HMMPfam_DAO,superfamily_SSF54373,superfamily_SSF103025,HMMPfam_GCV_T,HMMPfam_GCV_T_C,superfamily_SSF101790	p.T109M	ENST00000371872.4	37	c.326	CCDS6978.1	9	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623923	0.46840	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000427237;ENST00000539227;ENST00000535281;ENST00000371867;ENST00000393050;ENST00000298628	D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52	4.77	3.87	0.44632	FAD dependent oxidoreductase (1);	0.061039	0.64402	D	0.000003	D	0.89079	0.6613	M	0.81179	2.53	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	D	0.89939	0.4071	10	0.87932	D	0	-16.7159	12.8142	0.57657	0.0796:0.0:0.9204:0.0	.	109	Q9UL12	SARDH_HUMAN	M	109;109;109;109;109;20;87;109	ENSP00000360938:T109M;ENSP00000403084:T109M;ENSP00000360933:T20M;ENSP00000298628:T109M	ENSP00000298628:T109M	T	-	2	0	SARDH	135588791	1.000000	0.71417	0.903000	0.35520	0.027000	0.11550	9.431000	0.97494	1.015000	0.39444	-0.218000	0.12543	ACG	-	superfamily_SSF51905,HMMPfam_DAO		0.652	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SARDH	protein_coding	OTTHUMT00000054931.1	G			135588791	-1	no_errors	NM_007101	genbank	human	reviewed	54_36p	missense	SNP	0.997	A
UTRN	7402	genome.wustl.edu	37	6	144783805	144783805	+	Missense_Mutation	SNP	C	C	G			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr6:144783805C>G	ENST00000367545.3	+	22	2869	c.2869C>G	c.(2869-2871)Ctt>Gtt	p.L957V		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	957					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGATGAAATCCTTGAGAATCA	0.308																																																0			6											35.0	37.0	36.0					6																	144783805		2202	4297	6499	144825498	SO:0001583	missense	7402			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.2869C>G	6.37:g.144783805C>G	ENSP00000356515:p.Leu957Val		144825498	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,HMMPfam_Spectrin,superfamily_Spectrin,HMMSmart_SPEC,superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_SSF47473,HMMPfam_efhand_1,HMMPfam_efhand_2,HMMPfam_ZZ,HMMSmart_ZnF_ZZ,PatternScan_ZF_ZZ_1	p.L957V	ENST00000367545.3	37	c.2869	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	C	13.98	2.398152	0.42512	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.63580	-0.05	5.36	5.36	0.76844	.	0.000000	0.45361	D	0.000364	T	0.36110	0.0955	L	0.32530	0.975	0.80722	D	1	B	0.32350	0.366	B	0.23852	0.049	T	0.45234	-0.9275	10	0.54805	T	0.06	.	13.9898	0.64359	0.1514:0.8486:0.0:0.0	.	957	P46939	UTRO_HUMAN	V	957	ENSP00000356515:L957V	ENSP00000356499:L957V	L	+	1	0	UTRN	144825498	0.988000	0.35896	1.000000	0.80357	0.948000	0.59901	1.277000	0.33167	2.486000	0.83907	0.655000	0.94253	CTT	-	superfamily_Spectrin,HMMSmart_SPEC		0.308	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	protein_coding	OTTHUMT00000042551.1	C			144825498	+1	no_errors	NM_007124	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
SMARCD3	6604	genome.wustl.edu	37	7	150937197	150937197	+	Splice_Site	SNP	C	C	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr7:150937197C>A	ENST00000262188.8	-	10	1584		c.e10+1		MIR671_ENST00000390183.1_RNA|RP4-548D19.3_ENST00000607902.1_RNA|SMARCD3_ENST00000356800.2_Splice_Site|SMARCD3_ENST00000392811.2_Splice_Site|SMARCD3_ENST00000477169.1_5'Flank	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3						cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTGGGCCCCACCTTACTGTCC	0.547																																																0			7											111.0	96.0	101.0					7																	150937197		2203	4300	6503	150568130	SO:0001630	splice_region_variant	6604			U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014			11108	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60C"", ""Swp73-like protein"", ""SWI/SNF complex 60 kDa subunit C"", ""60kDa BRG-1/Brm associated factor subunit c"""	601737				8804307, 9693044	Standard	NM_001003801		Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431	ENST00000262188.8:c.1173+1G>T	7.37:g.150937197C>A			150568130	D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	Splice_Site	SNP	-	e10+1	ENST00000262188.8	37	c.1173+1	CCDS34780.1	7	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870837	0.72065	.	.	ENSG00000082014	ENST00000262188;ENST00000392811;ENST00000356800;ENST00000347683	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.12	0.81346	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SMARCD3	150568130	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.075000	0.71261	2.368000	0.80403	0.655000	0.94253	.	-	-		0.547	SMARCD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCD3	protein_coding	OTTHUMT00000348825.1	C	NM_001003801	Intron	150568130	-1	no_errors	NM_001003801	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	A
SLC36A3	285641	genome.wustl.edu	37	5	150678161	150678161	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr5:150678161C>T	ENST00000335230.3	-	2	623	c.212G>A	c.(211-213)gGc>gAc	p.G71D	SLC36A3_ENST00000377713.3_Missense_Mutation_p.G71D	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	71						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TACCAACAAGCCGGCATTCTT	0.507																																																0			5											87.0	75.0	79.0					5																	150678161		2203	4300	6503	150658354	SO:0001583	missense	285641			AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"""Solute carriers"""	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.212G>A	5.37:g.150678161C>T	ENSP00000334750:p.Gly71Asp		150658354	Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Missense_Mutation	SNP	HMMPfam_Aa_trans	p.G71D	ENST00000335230.3	37	c.212	CCDS4314.1	5	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630473	0.46944	.	.	ENSG00000186334	ENST00000335230;ENST00000377713	T;T	0.64260	-0.09;-0.09	4.62	3.75	0.43078	.	0.000000	0.85682	D	0.000000	D	0.84065	0.5390	H	0.96943	3.91	0.36980	D	0.894252	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88887	0.3343	10	0.87932	D	0	.	10.114	0.42579	0.1985:0.8015:0.0:0.0	.	71;71	Q495N2-3;Q495N2	.;S36A3_HUMAN	D	71	ENSP00000334750:G71D;ENSP00000366942:G71D	ENSP00000334750:G71D	G	-	2	0	SLC36A3	150658354	1.000000	0.71417	0.909000	0.35828	0.468000	0.32798	5.171000	0.64996	1.154000	0.42482	0.655000	0.94253	GGC	-	HMMPfam_Aa_trans		0.507	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A3	protein_coding	OTTHUMT00000252436.1	C	NM_181774		150658354	-1	no_errors	NM_181774	genbank	human	validated	54_36p	missense	SNP	0.334	T
OPN1LW	5956	genome.wustl.edu	37	X	153418474	153418474	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chrX:153418474G>C	ENST00000369951.4	+	3	531	c.471G>C	c.(469-471)aaG>aaC	p.K157N	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	157					phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGTGTGCAAGCCCTTTGGCA	0.562																																																0			X											253.0	173.0	202.0					X																	153418474		2153	3906	6059	153071668	SO:0001583	missense	5956			Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"""GPCR / Class A : Opsin receptors"""	9936	protein-coding gene	gene with protein product	"""cone dystrophy 5 (X-linked)"""	300822	"""color blindness, protan"", ""red cone photoreceptor pigment"""	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.471G>C	X.37:g.153418474G>C	ENSP00000358967:p.Lys157Asn		153071668		Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,PatternScan_OPSIN	p.K157N	ENST00000369951.4	37	c.471	CCDS14742.1	X	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287383	0.59976	.	.	ENSG00000102076	ENST00000369951;ENST00000442922	T;T	0.37752	1.18;1.18	4.57	1.59	0.23543	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.46425	0.1392	M	0.92367	3.3	0.54753	D	0.999989	P	0.41546	0.754	B	0.44163	0.443	T	0.44329	-0.9335	10	0.87932	D	0	.	3.4156	0.07375	0.4086:0.196:0.3954:0.0	.	157	P04000	OPSR_HUMAN	N	157;20	ENSP00000358967:K157N;ENSP00000402493:K20N	ENSP00000358967:K157N	K	+	3	2	OPN1LW	153071668	0.712000	0.27916	1.000000	0.80357	0.969000	0.65631	-0.052000	0.11865	0.295000	0.22570	0.432000	0.28606	AAG	-	superfamily_SSF81321,HMMPfam_7tm_1		0.562	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN1LW	protein_coding	OTTHUMT00000082839.2	G	NM_020061		153071668	+1	no_errors	NM_020061	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
CTAG2	30848	genome.wustl.edu	37	X	153881764	153881764	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chrX:153881764C>T	ENST00000247306.4	-	1	89	c.26G>A	c.(25-27)gGg>gAg	p.G9E	CTAG2_ENST00000369585.3_Missense_Mutation_p.G9E	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	9	Gly-rich.					centrosome (GO:0005813)				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGTCGAACCCCCTGTGCCCTG	0.711																																																0			X											5.0	11.0	10.0					X																	153881764		1044	3580	4624	153534958	SO:0001583	missense	30848			AJ012833	CCDS14759.1, CCDS35455.1	Xq28	2009-08-18			ENSG00000126890	ENSG00000126890			2492	protein-coding gene	gene with protein product	"""CTL-recognized antigen on melanoma"", ""LAGE-1a protein"", ""cancer/testis antigen family 6, member 2a"", ""cancer/testis antigen family 6, member 2b"""	300396				9626360, 10399963	Standard	NM_020994		Approved	LAGE-1, CAMEL, LAGE1, ESO2, MGC3803, MGC138724, CT6.2a, CT6.2b, LAGE-1a, LAGE-1b	uc004fmi.2	O75638	OTTHUMG00000024239	ENST00000247306.4:c.26G>A	X.37:g.153881764C>T	ENSP00000247306:p.Gly9Glu		153534958	O75637|Q0VIL6|Q14CD6|Q2Z1N4|Q9BU80|Q9UJ89|Q9Y479	Missense_Mutation	SNP	HMMPfam_Pcc1	p.G9E	ENST00000247306.4	37	c.26	CCDS14759.1	X	.	.	.	.	.	.	.	.	.	.	c	9.266	1.044566	0.19748	.	.	ENSG00000126890	ENST00000247306;ENST00000369585	T;T	0.37235	1.21;1.35	2.31	-2.48	0.06423	.	.	.	.	.	T	0.32346	0.0826	N	0.19112	0.55	0.09310	N	1	D;D	0.71674	0.985;0.998	P;D	0.63703	0.827;0.917	T	0.16453	-1.0402	9	0.62326	D	0.03	.	1.576	0.02624	0.3295:0.3672:0.1792:0.1241	.	9;9	O75638;O75638-2	CTAG2_HUMAN;.	E	9	ENSP00000247306:G9E;ENSP00000358598:G9E	ENSP00000247306:G9E	G	-	2	0	CTAG2	153534958	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.541000	0.06099	-0.842000	0.04195	-0.510000	0.04470	GGG	-	NULL		0.711	CTAG2-001	PUTATIVE	basic|CCDS	protein_coding	CTAG2	protein_coding	OTTHUMT00000061176.1	C	NM_020994		153534958	-1	no_errors	NM_020994	genbank	human	validated	54_36p	missense	SNP	0.000	T
IPCEF1	26034	genome.wustl.edu	37	6	154489077	154489077	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr6:154489077C>A	ENST00000265198.4	-	11	1234	c.1079G>T	c.(1078-1080)cGa>cTa	p.R360L	IPCEF1_ENST00000422970.2_Missense_Mutation_p.R361L|OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000367220.4_Missense_Mutation_p.R361L|IPCEF1_ENST00000519344.1_Missense_Mutation_p.R332L	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1	Q8WWN9	ICEF1_HUMAN	interaction protein for cytohesin exchange factors 1	360					oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of GTP catabolic process (GO:0033126)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						ATTCAATGTTCGGATTTTGTG	0.413																																																0			6											144.0	134.0	138.0					6																	154489077		2203	4300	6503	154530769	SO:0001583	missense	26034			AB007863	CCDS5245.1, CCDS47509.1	6q25.2	2013-01-10			ENSG00000074706	ENSG00000074706		"""Pleckstrin homology (PH) domain containing"""	21204	protein-coding gene	gene with protein product	"""phosphoinositide binding protein PIP3-E"""					11804589, 19756519	Standard	NM_001130699		Approved	PIP3-E, KIAA0403	uc021zhc.1	Q8WWN9	OTTHUMG00000015872	ENST00000265198.4:c.1079G>T	6.37:g.154489077C>A	ENSP00000265198:p.Arg360Leu		154530769	A8K1K2|B7ZL78|B7ZL80|O43153|Q5HYL8	Missense_Mutation	SNP	superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233	p.R360L	ENST00000265198.4	37	c.1079	CCDS5245.1	6	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772229	0.90108	.	.	ENSG00000074706	ENST00000265198;ENST00000422970;ENST00000367220;ENST00000519344	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.08	5.17	5.17	0.71159	.	0.060126	0.64402	D	0.000003	T	0.81370	0.4808	M	0.85462	2.755	0.38292	D	0.942744	D;D;D	0.76494	0.998;0.999;0.997	D;D;P	0.70716	0.934;0.97;0.884	D	0.85099	0.0956	10	0.87932	D	0	-25.2055	18.6676	0.91497	0.0:1.0:0.0:0.0	.	360;361;332	Q8WWN9;Q8WWN9-2;G3V132	ICEF1_HUMAN;.;.	L	360;361;361;332	ENSP00000265198:R360L;ENSP00000394751:R361L;ENSP00000356189:R361L;ENSP00000430287:R332L	ENSP00000265198:R360L	R	-	2	0	IPCEF1	154530769	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.487000	0.81328	2.413000	0.81919	0.591000	0.81541	CGA	-	NULL		0.413	IPCEF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IPCEF1	protein_coding	OTTHUMT00000042789.2	C	NM_001130699		154530769	-1	no_errors	NM_015553	genbank	human	validated	54_36p	missense	SNP	1.000	A
GPD2	2820	genome.wustl.edu	37	2	157352564	157352564	+	Silent	SNP	G	G	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr2:157352564G>A	ENST00000310454.6	+	3	483	c.111G>A	c.(109-111)ctG>ctA	p.L37L	GPD2_ENST00000540309.1_Silent_p.L37L|GPD2_ENST00000409125.4_Intron|GPD2_ENST00000409674.1_Silent_p.L37L|GPD2_ENST00000438166.2_Silent_p.L37L	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	37					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						AGATGAACCTGGCCTATGTTA	0.363																																																0			2											69.0	66.0	67.0					2																	157352564		2203	4300	6503	157060810	SO:0001819	synonymous_variant	2820				CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"""EF-hand domain containing"""	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.111G>A	2.37:g.157352564G>A			157060810	A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Silent	SNP	superfamily_FAD/NAD(P)-binding domain,HMMPfam_DAO,PatternScan_FAD_G3PDH_1,superfamily_FAD-linked reductases C-terminal domain,PatternScan_FAD_G3PDH_2,superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1	p.L37	ENST00000310454.6	37	c.111	CCDS2202.1	2																																																																																			-	NULL		0.363	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPD2	protein_coding	OTTHUMT00000254910.3	G			157060810	+1	no_errors	NM_000408	genbank	human	validated	54_36p	silent	SNP	1.000	A
CTSO	1519	genome.wustl.edu	37	4	156864417	156864417	+	Splice_Site	SNP	C	C	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr4:156864417C>T	ENST00000433477.3	-	2	205		c.e2-1			NM_001334.2	NP_001325.1	P43235	CATK_HUMAN	cathepsin O						bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		TAAGACTTTCCTAGAAGAAAA	0.303																																					Pancreas(148;2303 2598 8989 35298)											0			4											55.0	61.0	59.0					4																	156864417		2203	4294	6497	157083867	SO:0001630	splice_region_variant	1519			X77383	CCDS3794.1	4q32.1	2012-10-03			ENSG00000256043	ENSG00000256043		"""Cathepsins"""	2542	protein-coding gene	gene with protein product		600550		CTSO1		9790772	Standard	NM_001334		Approved		uc003ipg.3	P43234	OTTHUMG00000161942	ENST00000433477.3:c.136-1G>A	4.37:g.156864417C>T			157083867	Q6FHS6	Splice_Site	SNP	-	e2-1	ENST00000433477.3	37	c.136-1	CCDS3794.1	4	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328534	0.60743	.	.	ENSG00000256043	ENST00000433477	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7977	0.96492	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CTSO	157083867	1.000000	0.71417	1.000000	0.80357	0.564000	0.35744	6.132000	0.71676	2.698000	0.92095	0.655000	0.94253	.	-	-		0.303	CTSO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSO	protein_coding	OTTHUMT00000366469.1	C	NM_001334	Intron	157083867	-1	no_errors	NM_001334	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	T
UFC1	51506	genome.wustl.edu	37	1	161127060	161127060	+	Missense_Mutation	SNP	T	T	G			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr1:161127060T>G	ENST00000368003.5	+	3	454	c.208T>G	c.(208-210)Tgg>Ggg	p.W70G	USP21_ENST00000289865.8_5'Flank|UFC1_ENST00000473766.1_3'UTR|RP11-297K8.2_ENST00000420498.1_RNA|USP21_ENST00000368001.1_5'Flank|USP21_ENST00000368002.3_5'Flank	NM_016406.3	NP_057490.2	Q9Y3C8	UFC1_HUMAN	ubiquitin-fold modifier conjugating enzyme 1	70					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	extracellular vesicular exosome (GO:0070062)	UFM1 conjugating enzyme activity (GO:0071568)			endometrium(1)|lung(9)	10	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TGGAAAATGCTGGTATATCCA	0.433																																																0			1											232.0	232.0	232.0					1																	161127060		2203	4300	6503	159393684	SO:0001583	missense	51506			AF161504	CCDS1220.1	1q23.3	2008-02-05			ENSG00000143222	ENSG00000143222			26941	protein-coding gene	gene with protein product		610554				15071506, 11042152	Standard	NM_016406		Approved	HSPC155	uc001fyd.4	Q9Y3C8	OTTHUMG00000033155	ENST00000368003.5:c.208T>G	1.37:g.161127060T>G	ENSP00000356982:p.Trp70Gly		159393684	A8K9R1|D3DVF9|Q549X0|Q5VTX1|Q9BS96|Q9P009	Missense_Mutation	SNP	HMMPfam_UFC1	p.W70G	ENST00000368003.5	37	c.208	CCDS1220.1	1	.	.	.	.	.	.	.	.	.	.	T	19.40	3.820487	0.71028	.	.	ENSG00000143222	ENST00000368003	T	0.60040	0.22	5.43	5.43	0.79202	Ubiquitin-conjugating enzyme/RWD-like (1);	0.000000	0.85682	D	0.000000	T	0.77458	0.4133	M	0.92604	3.325	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.83917	0.0299	10	0.87932	D	0	-8.7911	14.4807	0.67579	0.0:0.0:0.0:1.0	.	70	Q9Y3C8	UFC1_HUMAN	G	70	ENSP00000356982:W70G	ENSP00000356982:W70G	W	+	1	0	UFC1	159393684	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.580000	0.74040	2.061000	0.61500	0.533000	0.62120	TGG	-	HMMPfam_UFC1		0.433	UFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UFC1	protein_coding	OTTHUMT00000080810.1	T	NM_016406		159393684	+1	no_errors	NM_016406	genbank	human	validated	54_36p	missense	SNP	1.000	G
TOR3A	64222	genome.wustl.edu	37	1	179063255	179063255	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr1:179063255G>C	ENST00000367627.3	+	5	1598	c.846G>C	c.(844-846)gaG>gaC	p.E282D	TOR3A_ENST00000352445.6_Missense_Mutation_p.E282D	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	282					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TAATCAATGAGGTGGTCCTAA	0.463																																																0			1											98.0	98.0	98.0					1																	179063255		2203	4300	6503	177329878	SO:0001583	missense	64222			BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"""ATP-dependant interferon responsive"""	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.846G>C	1.37:g.179063255G>C	ENSP00000356599:p.Glu282Asp		177329878	B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Missense_Mutation	SNP	HMMPfam_Torsin,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.E282D	ENST00000367627.3	37	c.846	CCDS1329.1	1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.042135	0.35989	.	.	ENSG00000186283	ENST00000367627;ENST00000352445;ENST00000447595	T;T;T	0.64438	1.52;1.52;-0.1	5.55	2.23	0.28157	.	0.148383	0.64402	D	0.000013	T	0.48677	0.1513	L	0.48877	1.53	0.48452	D	0.999654	B	0.32653	0.379	B	0.26517	0.07	T	0.42344	-0.9457	10	0.35671	T	0.21	-12.4954	9.6637	0.39972	0.2568:0.0:0.7432:0.0	.	282	Q9H497	TOR3A_HUMAN	D	282;282;174	ENSP00000356599:E282D;ENSP00000335351:E282D;ENSP00000410195:E174D	ENSP00000335351:E282D	E	+	3	2	TOR3A	177329878	0.783000	0.28701	0.989000	0.46669	0.930000	0.56654	-0.184000	0.09698	0.718000	0.32166	0.561000	0.74099	GAG	-	HMMPfam_Torsin,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.463	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR3A	protein_coding	OTTHUMT00000084927.1	G	NM_022371		177329878	+1	no_errors	NM_022371	genbank	human	validated	54_36p	missense	SNP	1.000	C
TOR1AIP1	26092	genome.wustl.edu	37	1	179858456	179858456	+	Missense_Mutation	SNP	G	G	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr1:179858456G>T	ENST00000606911.2	+	3	753	c.562G>T	c.(562-564)Gat>Tat	p.D188Y	TOR1AIP1_ENST00000528443.2_Missense_Mutation_p.D189Y|TOR1AIP1_ENST00000435319.4_Missense_Mutation_p.D67Y|TOR1AIP1_ENST00000474875.1_3'UTR|TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.D189Y			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	188					positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						AGTGAGTGAAGATCTTGTAAT	0.303																																																0			1											120.0	119.0	120.0					1																	179858456		2203	4298	6501	178125079	SO:0001583	missense	26092				CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"""lamina associated polypeptide 1B"""	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.562G>T	1.37:g.179858456G>T	ENSP00000476687:p.Asp188Tyr		178125079	A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Missense_Mutation	SNP	HMMPfam_LAP1C	p.D188Y	ENST00000606911.2	37	c.562	CCDS1335.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.15|18.15	3.559573|3.559573	0.65538|0.65538	.|.	.|.	ENSG00000143337|ENSG00000143337	ENST00000528443;ENST00000325993;ENST00000271583;ENST00000435319|ENST00000527391	T;T;T|.	0.27402|.	1.67;1.67;1.67|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.363229|.	0.23640|.	N|.	0.046025|.	T|T	0.71978|0.71978	0.3404|0.3404	M|M	0.66939|0.66939	2.045|2.045	0.38071|0.38071	D|D	0.936373|0.936373	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.73849|0.73849	-0.3853|-0.3853	9|5	.|.	.|.	.|.	-11.024|-11.024	14.7301|14.7301	0.69374|0.69374	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	188;189|.	Q5JTV8;E9PKD1|.	TOIP1_HUMAN;.|.	Y|I	189;188;189;188|64	ENSP00000435365:D189Y;ENSP00000271583:D189Y;ENSP00000393292:D188Y|.	.|.	D|R	+|+	1|2	0|0	TOR1AIP1|TOR1AIP1	178125079|178125079	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.081000|0.081000	0.17604|0.17604	4.200000|4.200000	0.58433|0.58433	2.598000|2.598000	0.87819|0.87819	0.557000|0.557000	0.71058|0.71058	GAT|AGA	-	HMMPfam_LAP1C		0.303	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	TOR1AIP1	protein_coding	OTTHUMT00000100313.4	G	NM_015602		178125079	+1	no_errors	NM_015602	genbank	human	validated	54_36p	missense	SNP	0.251	T
TRMT1L	81627	genome.wustl.edu	37	1	185109229	185109229	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr1:185109229C>A	ENST00000367506.5	-	8	1253	c.985G>T	c.(985-987)Gtg>Ttg	p.V329L	TRMT1L_ENST00000367504.3_Missense_Mutation_p.V173L	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	329	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.				adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						TTACTGTCCACCACCACTTTC	0.348																																																0			1											153.0	143.0	147.0					1																	185109229		2203	4299	6502	183375852	SO:0001583	missense	81627			AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"""TRM1-like"""	611673	"""chromosome 1 open reading frame 25"", ""TRM1 tRNA methyltransferase 1-like"""	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.985G>T	1.37:g.185109229C>A	ENSP00000356476:p.Val329Leu		183375852	Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Missense_Mutation	SNP	HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_TRM	p.V329L	ENST00000367506.5	37	c.985	CCDS1366.1	1	.	.	.	.	.	.	.	.	.	.	C	8.036	0.762728	0.15914	.	.	ENSG00000121486	ENST00000367504;ENST00000367506	.	.	.	5.92	2.64	0.31445	.	0.669278	0.16096	N	0.229825	T	0.13670	0.0331	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.12243	-1.0555	9	0.44086	T	0.13	-1.3663	2.2796	0.04111	0.2775:0.3843:0.2054:0.1327	.	329	Q7Z2T5	TRM1L_HUMAN	L	173;329	.	ENSP00000356474:V173L	V	-	1	0	TRMT1L	183375852	0.197000	0.23362	0.043000	0.18650	0.535000	0.34838	0.558000	0.23469	0.765000	0.33221	0.467000	0.42956	GTG	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_TRM		0.348	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf25	protein_coding	OTTHUMT00000085787.1	C	NM_030934		183375852	-1	no_errors	NM_030934	genbank	human	reviewed	54_36p	missense	SNP	0.005	A
PLXNA2	5362	genome.wustl.edu	37	1	208215600	208215600	+	Missense_Mutation	SNP	T	T	G			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr1:208215600T>G	ENST00000367033.3	-	22	4886	c.4129A>C	c.(4129-4131)Agt>Cgt	p.S1377R		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1377					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ATGGAGAAACTGCGCTGCAGC	0.612																																																0			1											106.0	104.0	105.0					1																	208215600		2203	4300	6503	206282223	SO:0001583	missense	5362			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.4129A>C	1.37:g.208215600T>G	ENSP00000356000:p.Ser1377Arg		206282223	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	superfamily_Sema domain,HMMPfam_Sema,HMMSmart_SM00630,HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat,HMMSmart_SM00429,superfamily_E set domains,HMMPfam_TIG,HMMPfam_Plexin_cytopl,superfamily_GTPase activation domain GAP	p.S1377R	ENST00000367033.3	37	c.4129	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	T	18.60	3.659222	0.67586	.	.	ENSG00000076356	ENST00000367033	T	0.12361	2.69	5.15	5.15	0.70609	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.124809	0.85682	D	0.000000	T	0.41442	0.1159	M	0.85197	2.74	0.58432	D	0.999997	D	0.69078	0.997	D	0.69824	0.966	T	0.46076	-0.9217	10	0.62326	D	0.03	.	14.9889	0.71371	0.0:0.0:0.0:1.0	.	1377	O75051	PLXA2_HUMAN	R	1377	ENSP00000356000:S1377R	ENSP00000356000:S1377R	S	-	1	0	PLXNA2	206282223	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	6.072000	0.71238	1.937000	0.56155	0.374000	0.22700	AGT	-	HMMPfam_Plexin_cytopl,superfamily_GTPase activation domain GAP		0.612	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	protein_coding	OTTHUMT00000088932.6	T	NM_025179		206282223	-1	no_errors	NM_025179	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
MAP2	4133	genome.wustl.edu	37	2	210569215	210569215	+	Intron	SNP	A	A	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr2:210569215A>T	ENST00000360351.4	+	11	5090				MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Intron|MAP2_ENST00000199940.6_Silent_p.T186T|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000475600.1_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2						axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AGGGTAGCACAAAGTCCCCAA	0.418																																					Pancreas(27;423 979 28787 29963)											0			2											89.0	88.0	89.0					2																	210569215		2203	4299	6502	210277460	SO:0001627	intron_variant	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4585-1089A>T	2.37:g.210569215A>T			210277460	Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	HMMPfam_RII_binding_1,HMMPfam_Tubulin-binding,PatternScan_TAU_MAP	p.T186	ENST00000360351.4	37	c.558	CCDS2384.1	2																																																																																			-	NULL		0.418	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	protein_coding	OTTHUMT00000256521.2	A	NM_001039538		210277460	+1	no_errors	NM_001039538	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
SERPINE2	5270	genome.wustl.edu	37	2	224866605	224866605	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr2:224866605G>C	ENST00000258405.4	-	2	255	c.13C>G	c.(13-15)Ctc>Gtc	p.L5V	SERPINE2_ENST00000409304.1_Missense_Mutation_p.L5V|SERPINE2_ENST00000409840.3_Missense_Mutation_p.L5V|SERPINE2_ENST00000447280.2_Missense_Mutation_p.L17V	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	5					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		AAGAGGGGGAGATGCCAGTTC	0.443																																																0			2											95.0	106.0	102.0					2																	224866605		2203	4300	6503	224574849	SO:0001583	missense	5270			M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"""Serine (or cysteine) peptidase inhibitors"""	8951	protein-coding gene	gene with protein product	"""glial-derived nexin 1"""	177010	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"""	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.13C>G	2.37:g.224866605G>C	ENSP00000258405:p.Leu5Val		224574849	B2R6A4|B4DIF2|Q53S15|Q5D0C4	Missense_Mutation	SNP	HMMPfam_Serpin,superfamily_Serpins,HMMSmart_SM00093,PatternScan_SERPIN	p.L5V	ENST00000258405.4	37	c.13	CCDS2460.1	2	.	.	.	.	.	.	.	.	.	.	G	3.871	-0.027830	0.07589	.	.	ENSG00000135919	ENST00000409304;ENST00000258405;ENST00000409840;ENST00000447280;ENST00000432738;ENST00000454956;ENST00000423446	D;T;D;D;D;D	0.85955	-2.0;-0.92;-2.0;-2.05;-1.68;-1.73	5.03	1.17	0.20885	Serpin domain (1);	0.640765	0.16622	N	0.206424	T	0.68201	0.2975	N	0.08118	0	0.09310	N	1	B;B	0.21381	0.055;0.016	B;B	0.21151	0.033;0.01	T	0.57568	-0.7789	10	0.46703	T	0.11	.	8.1362	0.31056	0.757:0.0:0.243:0.0	.	17;5	B4DIF2;P07093	.;GDN_HUMAN	V	5;5;5;17;5;5;5	ENSP00000386412:L5V;ENSP00000258405:L5V;ENSP00000386969:L5V;ENSP00000415786:L17V;ENSP00000408452:L5V;ENSP00000399655:L5V	ENSP00000258405:L5V	L	-	1	0	SERPINE2	224574849	0.989000	0.36119	0.051000	0.19133	0.037000	0.13140	1.106000	0.31098	0.021000	0.15133	0.561000	0.74099	CTC	-	NULL		0.443	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SERPINE2	protein_coding	OTTHUMT00000256865.2	G	NM_006216		224574849	-1	no_errors	NM_006216	genbank	human	validated	54_36p	missense	SNP	0.306	C
ARID4B	51742	genome.wustl.edu	37	1	235345708	235345708	+	Missense_Mutation	SNP	C	C	G	rs145247695		TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr1:235345708C>G	ENST00000264183.3	-	20	3023	c.2526G>C	c.(2524-2526)aaG>aaC	p.K842N	ARID4B_ENST00000366603.2_Missense_Mutation_p.K842N|ARID4B_ENST00000494543.1_5'Flank|ARID4B_ENST00000349213.3_Missense_Mutation_p.K756N	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	842					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			CCTTCTCTTCCTTTTTGCCAG	0.373																																																0			1											226.0	225.0	225.0					1																	235345708		2203	4299	6502	233412331	SO:0001583	missense	51742			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2526G>C	1.37:g.235345708C>G	ENSP00000264183:p.Lys842Asn		233412331	A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	HMMSmart_SM00333,HMMPfam_RBB1NT,superfamily_ARID-like,HMMPfam_ARID,HMMSmart_SM00501	p.K842N	ENST00000264183.3	37	c.2526	CCDS31061.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.012|4.012	-0.000453|-0.000453	0.07819|0.07819	.|.	.|.	ENSG00000054267|ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183|ENST00000444620	T;T;T|.	0.24538|.	1.85;1.86;1.86|.	5.62|5.62	4.52|4.52	0.55395|0.55395	.|.	0.423784|.	0.27354|.	N|.	0.019760|.	T|T	0.33904|0.33904	0.0879|0.0879	N|N	0.14661|0.14661	0.345|0.345	0.34771|0.34771	D|D	0.733706|0.733706	D;B;D;B|.	0.89917|.	1.0;0.11;1.0;0.006|.	D;B;D;B|.	0.83275|.	0.996;0.018;0.996;0.006|.	T|T	0.38845|0.38845	-0.9642|-0.9642	10|5	0.42905|.	T|.	0.14|.	-14.854|-14.854	10.0144|10.0144	0.42006|0.42006	0.1403:0.7781:0.0:0.0817|0.1403:0.7781:0.0:0.0817	.|.	523;842;756;842|.	Q4LE39-4;Q4LE39-3;Q4LE39-2;Q4LE39|.	.;.;.;ARI4B_HUMAN|.	N|T	842;756;842;842|242	ENSP00000264184:K756N;ENSP00000355562:K842N;ENSP00000264183:K842N|.	ENSP00000264183:K842N|.	K|R	-|-	3|2	2|0	ARID4B|ARID4B	233412331|233412331	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	1.741000|1.741000	0.38238|0.38238	2.645000|2.645000	0.89757|0.89757	0.650000|0.650000	0.86243|0.86243	AAG|AGG	-	NULL		0.373	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4B	protein_coding	OTTHUMT00000095566.3	C	NM_016374		233412331	-1	no_errors	NM_016374	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
EXO1	9156	genome.wustl.edu	37	1	242035520	242035520	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2372-01A-01D-1526-09	TCGA-59-2372-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1d360c98-deb5-4338-a615-348fae76a970	6c8deb64-732f-434d-bf72-e537052c2d61	g.chr1:242035520C>T	ENST00000366548.3	+	12	2047	c.1454C>T	c.(1453-1455)aCa>aTa	p.T485I	EXO1_ENST00000518483.1_Missense_Mutation_p.T485I|EXO1_ENST00000348581.5_Missense_Mutation_p.T485I	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	485	Interaction with MLH1.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AAATTTGCAACATTTTTACAA	0.393								Editing and processing nucleases																																								0			1											108.0	109.0	109.0					1																	242035520		2203	4300	6503	240102143	SO:0001583	missense	9156			AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.1454C>T	1.37:g.242035520C>T	ENSP00000355506:p.Thr485Ile		240102143	O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	HMMPfam_XPG_N,HMMSmart_SM00485,superfamily_PIN domain-like,PatternScan_XPG_1,HMMSmart_SM00484,HMMPfam_XPG_I,PatternScan_XPG_2,superfamily_5' to 3' exonuclease C-terminal subdomain,HMMSmart_SM00279	p.T485I	ENST00000366548.3	37	c.1454	CCDS1620.1	1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.753512	0.31046	.	.	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483	T;T;T	0.34667	1.35;1.35;1.35	5.94	5.94	0.96194	.	0.307523	0.34067	N	0.004287	T	0.31702	0.0805	L	0.39898	1.24	0.39886	D	0.973709	B;B;B	0.19583	0.022;0.037;0.022	B;B;B	0.21151	0.015;0.033;0.013	T	0.06162	-1.0842	10	0.33940	T	0.23	-4.8807	14.1735	0.65525	0.0:0.9279:0.0:0.0721	.	484;485;485	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	I	485	ENSP00000355506:T485I;ENSP00000311873:T485I;ENSP00000430251:T485I	ENSP00000311873:T485I	T	+	2	0	EXO1	240102143	0.211000	0.23529	0.997000	0.53966	0.284000	0.27059	1.646000	0.37249	2.822000	0.97130	0.557000	0.71058	ACA	-	NULL		0.393	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXO1	protein_coding	OTTHUMT00000096405.1	C	NM_006027		240102143	+1	no_errors	NM_006027	genbank	human	reviewed	54_36p	missense	SNP	0.981	T
