#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
ZNF721	170960	genome.wustl.edu	37	4	438000	438000	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr4:438000G>A	ENST00000338977.5	-	2	268	c.220C>T	c.(220-222)Cgt>Tgt	p.R74C	ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.R86C			Q8TF20	ZN721_HUMAN	zinc finger protein 721	74					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						ACTTTGACACGTGCATTACAT	0.313																																																0			4											63.0	69.0	67.0					4																	438000		2068	4252	6320	428000	SO:0001583	missense	170960			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.220C>T	4.37:g.438000G>A	ENSP00000340524:p.Arg74Cys		428000	Q69YG7	Missense_Mutation	SNP	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.R86C	ENST00000338977.5	37	c.256		4	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.899827	0.00058	.	.	ENSG00000182903	ENST00000338977;ENST00000511833;ENST00000505900	T;T;T	0.09163	3.41;3.4;3.01	0.436	-0.871	0.10642	.	.	.	.	.	T	0.01905	0.0060	N	0.00399	-1.545	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.24764	-1.0151	9	0.02654	T	1	.	3.8041	0.08770	0.3927:0.2039:0.4034:0.0	.	74;86;86	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	C	74;86;118	ENSP00000340524:R74C;ENSP00000428878:R86C;ENSP00000421325:R118C	ENSP00000340524:R74C	R	-	1	0	ZNF721	428000	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.180000	0.16860	-3.324000	0.00187	-2.634000	0.00153	CGT	-	superfamily_C2H2 and C2HC zinc fingers		0.313	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	ZNF721	protein_coding	OTTHUMT00000357939.1	G	NM_133474		428000	-1	no_errors	NM_133474	genbank	human	validated	54_36p	missense	SNP	0.613	A
FAM86A	196483	genome.wustl.edu	37	16	5143514	5143514	+	Missense_Mutation	SNP	G	G	A	rs537216471		TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr16:5143514G>A	ENST00000427587.4	-	3	279	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W	FAM86A_ENST00000587133.1_Intron|FAM86A_ENST00000458008.4_Missense_Mutation_p.R71W	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	71						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						AGAAAGCACCGGGCATATTTG	0.562													G|||	1	0.000199681	0.0	0.0	5008	,	,		19614	0.0		0.0	False		,,,				2504	0.001															0			16											71.0	66.0	68.0					16																	5143514		2197	4300	6497	5083515	SO:0001583	missense	196483			BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.211C>T	16.37:g.5143514G>A	ENSP00000398502:p.Arg71Trp		5083515	D3DUF0|Q96S85	Missense_Mutation	SNP	superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_Methyltransf_16	p.R71W	ENST00000427587.4	37	c.211	CCDS10529.1	16	.	.	.	.	.	.	.	.	.	.	G	4.650	0.120864	0.08881	.	.	ENSG00000118894	ENST00000458008;ENST00000427587	T;T	0.19669	2.13;2.13	4.06	2.07	0.26955	.	0.148508	0.42964	U	0.000627	T	0.06826	0.0174	N	0.01874	-0.695	0.09310	N	1	B;B	0.25850	0.136;0.017	B;B	0.14023	0.01;0.002	T	0.26573	-1.0099	10	0.54805	T	0.06	.	6.739	0.23424	0.2225:0.0:0.7775:0.0	.	71;71	Q96G04-2;Q96G04	.;FA86A_HUMAN	W	71	ENSP00000389710:R71W;ENSP00000398502:R71W	ENSP00000398502:R71W	R	-	1	2	FAM86A	5083515	0.468000	0.25839	0.003000	0.11579	0.236000	0.25371	3.143000	0.50608	0.378000	0.24764	-0.463000	0.05309	CGG	-	NULL		0.562	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM86A	protein_coding	OTTHUMT00000251713.1	G	NM_201400		5083515	-1	no_errors	NM_201400	genbank	human	validated	54_36p	missense	SNP	0.175	A
TRIM5	85363	genome.wustl.edu	37	11	5701015	5701015	+	Silent	SNP	T	T	C			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr11:5701015T>C	ENST00000380034.3	-	2	649	c.393A>G	c.(391-393)acA>acG	p.T131T	TRIM5_ENST00000380027.1_Silent_p.T131T|TRIM5_ENST00000396855.3_Silent_p.T131T|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000305836.5_Silent_p.T131T|TRIM5_ENST00000396847.3_Silent_p.T131T|TRIM5_ENST00000396853.4_Silent_p.T131T	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	131					activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CAACCTCCTCTGTGAGGAACG	0.507																																																0			11											121.0	106.0	111.0					11																	5701015		2201	4297	6498	5657591	SO:0001819	synonymous_variant	85363			AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.393A>G	11.37:g.5701015T>C			5657591	A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Silent	SNP	superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_SM00336,HMMPfam_SPRY,HMMSmart_SM00449	p.T131	ENST00000380034.3	37	c.393	CCDS31393.1	11	.	.	.	.	.	.	.	.	.	.	T	0.140	-1.103622	0.01828	.	.	ENSG00000132256	ENST00000438025	.	.	.	4.07	-8.15	0.01065	.	.	.	.	.	T	0.44685	0.1305	.	.	.	0.44268	D	0.997129	.	.	.	.	.	.	T	0.49643	-0.8918	4	.	.	.	.	5.637	0.17542	0.4707:0.1857:0.0:0.3436	.	.	.	.	R	8	.	.	Q	-	2	0	TRIM5	5657591	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.041000	0.00157	-2.621000	0.00439	-2.352000	0.00242	CAG	-	HMMPfam_zf-B_box,HMMSmart_SM00336		0.507	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM5	protein_coding	OTTHUMT00000143360.3	T	NM_033034		5657591	-1	no_errors	NM_033034	genbank	human	reviewed	54_36p	silent	SNP	0.514	C
CHD5	26038	genome.wustl.edu	37	1	6191693	6191693	+	Missense_Mutation	SNP	T	T	A			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr1:6191693T>A	ENST00000262450.3	-	21	3359	c.3260A>T	c.(3259-3261)aAt>aTt	p.N1087I	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGGGGTACCATTGAATCTGTC	0.567																																																0			1											81.0	76.0	77.0					1																	6191693		2203	4300	6503	6114280	SO:0001583	missense	26038			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.3260A>T	1.37:g.6191693T>A	ENSP00000262450:p.Asn1087Ile		6114280	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	PatternScan_CHROMO_1,HMMPfam_CHDNT,superfamily_FYVE_PHD_ZnF,HMMSmart_PHD,HMMPfam_PHD,HMMSmart_RING,superfamily_Chromodomain-like,HMMSmart_CHROMO,superfamily_SSF52540,HMMPfam_Chromo,HMMSmart_DEXDc,HMMPfam_SNF2_N,PatternScan_DEAH_ATP_HELICASE,HMMSmart_HELICc,HMMPfam_Helicase_C,HMMPfam_DUF1087,HMMPfam_DUF1086,HMMPfam_CHDCT2	p.N1087I	ENST00000262450.3	37	c.3260	CCDS57.1	1	.	.	.	.	.	.	.	.	.	.	T	17.63	3.437946	0.62955	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	T	0.78246	-1.16	5.09	5.09	0.68999	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.91942	0.7448	H	0.97023	3.925	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.94576	0.7775	10	0.87932	D	0	-19.5675	15.156	0.72743	0.0:0.0:0.0:1.0	.	1087	Q8TDI0	CHD5_HUMAN	I	1087;603;495;495	ENSP00000262450:N1087I	ENSP00000262450:N1087I	N	-	2	0	CHD5	6114280	1.000000	0.71417	0.957000	0.39632	0.219000	0.24729	7.917000	0.87498	2.045000	0.60652	0.459000	0.35465	AAT	-	superfamily_SSF52540,HMMSmart_HELICc,HMMPfam_Helicase_C		0.567	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	protein_coding	OTTHUMT00000002823.2	T	NM_015557		6114280	-1	no_errors	NM_015557	genbank	human	provisional	54_36p	missense	SNP	0.999	A
FAM64A	54478	genome.wustl.edu	37	17	6348467	6348467	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr17:6348467C>A	ENST00000250056.8	+	2	120	c.37C>A	c.(37-39)Cgc>Agc	p.R13S	FAM64A_ENST00000571373.1_Missense_Mutation_p.R13S|FAM64A_ENST00000572595.2_Missense_Mutation_p.R13S|FAM64A_ENST00000576056.1_Missense_Mutation_p.R13S|FAM64A_ENST00000572447.1_Missense_Mutation_p.R13S|FAM64A_ENST00000570337.2_Missense_Mutation_p.R13S	NM_001195228.1	NP_001182157.1	Q9BSJ6	FA64A_HUMAN	family with sequence similarity 64, member A	13					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				COAD - Colon adenocarcinoma(228;0.141)		GACCTCCGTGCGCCGGAGATC	0.632																																																0			17											26.0	29.0	28.0					17																	6348467		2203	4300	6503	6289191	SO:0001583	missense	54478				CCDS32541.1, CCDS56016.1	17p13.2	2013-10-11			ENSG00000129195	ENSG00000129195			25483	protein-coding gene	gene with protein product	"""CALM interacting protein expressed in thymus and spleen"""					19383357, 16491119	Standard	NM_019013		Approved	FLJ10156, FLJ10491, CATS	uc002gcw.2	Q9BSJ6	OTTHUMG00000177832	ENST00000250056.8:c.37C>A	17.37:g.6348467C>A	ENSP00000250056:p.Arg13Ser		6289191	Q96CT4|Q9NVV1|Q9NWB5	Missense_Mutation	SNP	HMMPfam_DUF1466	p.R13S	ENST00000250056.8	37	c.37	CCDS56016.1	17	.	.	.	.	.	.	.	.	.	.	C	9.106	1.005367	0.19199	.	.	ENSG00000129195	ENST00000250056;ENST00000308855	T	0.57595	0.39	4.66	3.64	0.41730	.	0.300775	0.23969	N	0.042800	T	0.52075	0.1712	M	0.68317	2.08	0.09310	N	1	P;B	0.43169	0.8;0.275	P;B	0.45071	0.468;0.09	T	0.44267	-0.9339	10	0.29301	T	0.29	-6.2058	9.8394	0.40989	0.0:0.7728:0.2272:0.0	.	13;13	Q9BSJ6;Q9BSJ6-2	FA64A_HUMAN;.	S	13	ENSP00000250056:R13S	ENSP00000250056:R13S	R	+	1	0	FAM64A	6289191	0.440000	0.25618	0.200000	0.23457	0.009000	0.06853	2.119000	0.41958	2.405000	0.81733	0.655000	0.94253	CGC	-	HMMPfam_DUF1466		0.632	FAM64A-008	KNOWN	basic|CCDS	protein_coding	FAM64A	protein_coding	OTTHUMT00000439156.1	C	NM_019013		6289191	+1	no_errors	NM_019013	genbank	human	predicted	54_36p	missense	SNP	0.018	A
DCHS1	8642	genome.wustl.edu	37	11	6653811	6653811	+	Missense_Mutation	SNP	G	G	A	rs201160085		TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr11:6653811G>A	ENST00000299441.3	-	6	3343	c.2932C>T	c.(2932-2934)Cgc>Tgc	p.R978C	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	978	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCTGGTGCGTGGTGGGGAG	0.667													G|||	1	0.000199681	0.0	0.0	5008	,	,		14142	0.0		0.001	False		,,,				2504	0.0															0			11						G	CYS/ARG	2,4364		0,2,2181	7.0	7.0	7.0		2932	4.6	1.0	11		7	5,8509		0,5,4252	yes	missense	DCHS1	NM_003737.2	180	0,7,6433	AA,AG,GG		0.0587,0.0458,0.0543	probably-damaging	978/3299	6653811	7,12873	2183	4257	6440	6610387	SO:0001583	missense	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.2932C>T	11.37:g.6653811G>A	ENSP00000299441:p.Arg978Cys		6610387	O15098	Missense_Mutation	SNP	superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1	p.R978C	ENST00000299441.3	37	c.2932	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	G	18.07	3.540564	0.65085	4.58E-4	5.87E-4	ENSG00000166341	ENST00000299441	T	0.55234	0.53	4.6	4.6	0.57074	Cadherin (4);Cadherin-like (1);	0.161186	0.29529	N	0.011883	T	0.72835	0.3510	M	0.79693	2.465	0.52099	D	0.999942	D	0.89917	1.0	D	0.85130	0.997	T	0.74106	-0.3772	10	0.44086	T	0.13	.	15.2989	0.73931	0.0:0.0:1.0:0.0	.	978	Q96JQ0	PCD16_HUMAN	C	978	ENSP00000299441:R978C	ENSP00000299441:R978C	R	-	1	0	DCHS1	6610387	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	7.268000	0.78473	2.560000	0.86352	0.561000	0.74099	CGC	-	superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA		0.667	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	protein_coding	OTTHUMT00000257258.1	G	NM_003737		6610387	-1	no_errors	NM_003737	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7578275	7578275	+	Nonsense_Mutation	SNP	G	G	A			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr17:7578275G>A	ENST00000269305.4	-	6	763	c.574C>T	c.(574-576)Cag>Tag	p.Q192*	TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q192*	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	192	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; 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.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(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)	ATAAGATGCTGAGGAGGGGCC	0.557		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"""	144	Substitution - Nonsense(95)|Deletion - In frame(19)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(6)|Unknown(6)|Insertion - Frameshift(1)|Complex - frameshift(1)|Substitution - Missense(1)	breast(26)|ovary(20)|urinary_tract(15)|lung(12)|upper_aerodigestive_tract(10)|skin(8)|biliary_tract(7)|oesophagus(7)|large_intestine(6)|kidney(6)|stomach(5)|haematopoietic_and_lymphoid_tissue(5)|liver(5)|bone(4)|central_nervous_system(3)|pancreas(2)|cervix(1)|endometrium(1)|eye(1)	17											89.0	80.0	83.0					17																	7578275		2203	4300	6503	7519000	SO:0001587	stop_gained	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.574C>T	17.37:g.7578275G>A	ENSP00000269305:p.Gln192*		7519000	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	Nonsense_Mutation	SNP	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.Q192*	ENST00000269305.4	37	c.574	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	13.54	2.269040	0.40095	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	3.36	0.38483	.	0.242461	0.43260	D	0.000594	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-22.6404	8.6971	0.34303	0.0:0.1484:0.545:0.3066	.	.	.	.	X	192;192;192;192;192;192;181;99;60;99;60	.	ENSP00000269305:Q192X	Q	-	1	0	TP53	7519000	1.000000	0.71417	0.987000	0.45799	0.035000	0.12851	2.163000	0.42377	0.732000	0.32470	0.655000	0.94253	CAG	-	HMMPfam_P53,superfamily_p53-like transcription factors		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546		7519000	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A
FBN3	84467	genome.wustl.edu	37	19	8160335	8160335	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr19:8160335G>C	ENST00000600128.1	-	46	6123	c.5709C>G	c.(5707-5709)tgC>tgG	p.C1903W	FBN3_ENST00000601739.1_Missense_Mutation_p.C1903W|FBN3_ENST00000270509.2_Missense_Mutation_p.C1903W			Q75N90	FBN3_HUMAN	fibrillin 3	1903	EGF-like 30; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTGTGTTGAGGCAATGGCCAA	0.552																																																0			19											118.0	83.0	95.0					19																	8160335		2203	4300	6503	8066335	SO:0001583	missense	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.5709C>G	19.37:g.8160335G>C	ENSP00000470498:p.Cys1903Trp		8066335	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	HMMSmart_SM00181,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_TB module/8-cys domain,HMMPfam_TB,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,PatternScan_ASX_HYDROXYL,HMMPfam_EGF,superfamily_Growth factor receptor domain	p.C1903W	ENST00000600128.1	37	c.5709	CCDS12196.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.35|15.35	2.806227|2.806227	0.50421|0.50421	.|.	.|.	ENSG00000142449|ENSG00000142449	ENST00000341066|ENST00000270509	.|D	.|0.99445	.|-5.91	4.68|4.68	-2.13|-2.13	0.07144|0.07144	.|EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.|0.000000	.|0.85682	.|U	.|0.000000	D|D	0.99654|0.99654	0.9872|0.9872	H|H	0.99090|0.99090	4.425|4.425	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	D|D	0.98572|0.98572	1.0646|1.0646	6|10	0.87932|0.87932	D|D	0|0	.|.	10.4518|10.4518	0.44526|0.44526	0.4826:0.0:0.5174:0.0|0.4826:0.0:0.5174:0.0	.|.	.|1903	.|Q75N90	.|FBN3_HUMAN	G|W	23|1903	.|ENSP00000270509:C1903W	ENSP00000341317:A23G|ENSP00000270509:C1903W	A|C	-|-	2|3	0|2	FBN3|FBN3	8066335|8066335	0.005000|0.005000	0.15991|0.15991	0.959000|0.959000	0.39883|0.39883	0.797000|0.797000	0.45037|0.45037	-0.387000|-0.387000	0.07361|0.07361	-0.190000|-0.190000	0.10465|0.10465	-0.345000|-0.345000	0.07892|0.07892	GCC|TGC	-	superfamily_EGF/Laminin,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_ASX_HYDROXYL		0.552	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	protein_coding	OTTHUMT00000461428.2	G	NM_032447		8066335	-1	no_errors	NM_032447	genbank	human	reviewed	54_36p	missense	SNP	0.996	C
MC2R	4158	genome.wustl.edu	37	18	13884676	13884676	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr18:13884676G>C	ENST00000327606.3	-	2	1022	c.842C>G	c.(841-843)cCa>cGa	p.P281R		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	281					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	CCTGAGCTCTGGGCTCCGGAA	0.498																																					Colon(141;1584 1782 35999 48227 48692)											0			18											111.0	107.0	108.0					18																	13884676		2203	4300	6503	13874676	SO:0001583	missense	4158				CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.842C>G	18.37:g.13884676G>C	ENSP00000333821:p.Pro281Arg		13874676	A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.P281R	ENST00000327606.3	37	c.842	CCDS11869.1	18	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085859	0.36758	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	T	0.35789	1.29	5.06	5.06	0.68205	.	0.267666	0.36972	N	0.002304	T	0.45538	0.1347	N	0.24115	0.695	0.34102	D	0.661955	D	0.65815	0.995	P	0.62184	0.899	T	0.58736	-0.7584	10	0.56958	D	0.05	.	18.425	0.90606	0.0:0.0:1.0:0.0	.	281	Q01718	ACTHR_HUMAN	R	281	ENSP00000333821:P281R	ENSP00000333821:P281R	P	-	2	0	MC2R	13874676	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.782000	0.47758	2.350000	0.79820	0.655000	0.94253	CCA	-	superfamily_Family A G protein-coupled receptor-like		0.498	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC2R	protein_coding	OTTHUMT00000254639.2	G			13874676	-1	no_errors	NM_000529	genbank	human	reviewed	54_36p	missense	SNP	0.984	C
DNAH5	1767	genome.wustl.edu	37	5	13886208	13886208	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr5:13886208G>A	ENST00000265104.4	-	18	2712	c.2608C>T	c.(2608-2610)Cat>Tat	p.H870Y	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	870	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTTTAAAATGTAGTATTTGT	0.328									Kartagener syndrome																																							0			5											59.0	56.0	57.0					5																	13886208		2202	4297	6499	13939208	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.2608C>T	5.37:g.13886208G>A	ENSP00000265104:p.His870Tyr		13939208	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	HMMPfam_DHC_N1,superfamily_Spectrin,HMMPfam_DHC_N2,superfamily_SSF52540,HMMSmart_AAA,HMMPfam_AAA_5,HMMPfam_Dynein_heavy	p.H870Y	ENST00000265104.4	37	c.2608	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	14.20	2.463667	0.43736	.	.	ENSG00000039139	ENST00000265104	T	0.22743	1.94	5.79	2.82	0.32997	.	0.345597	0.33534	N	0.004816	T	0.20129	0.0484	L	0.54323	1.7	0.38106	D	0.937404	B	0.06786	0.001	B	0.09377	0.004	T	0.09707	-1.0662	10	0.16896	T	0.51	.	14.5769	0.68255	0.0:0.0:0.6:0.4	.	870	Q8TE73	DYH5_HUMAN	Y	870	ENSP00000265104:H870Y	ENSP00000265104:H870Y	H	-	1	0	DNAH5	13939208	0.999000	0.42202	0.988000	0.46212	0.964000	0.63967	2.743000	0.47442	0.753000	0.32945	-0.181000	0.13052	CAT	-	NULL		0.328	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	protein_coding	OTTHUMT00000207057.2	G	NM_001369		13939208	-1	no_errors	NM_001369	genbank	human	validated	54_36p	missense	SNP	0.979	A
SSBP4	170463	genome.wustl.edu	37	19	18542826	18542826	+	Silent	SNP	C	C	T	rs368498567		TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr19:18542826C>T	ENST00000270061.7	+	9	876	c.582C>T	c.(580-582)ggC>ggT	p.G194G	SSBP4_ENST00000348495.6_Silent_p.G172G|SSBP4_ENST00000599699.2_5'Flank|SSBP4_ENST00000598159.2_3'UTR	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4	194	Pro-rich.					nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|skin(1)	4						CGAGCATGGGCGGCCCAATGC	0.682																																																0			19						C	,	1,4405		0,1,2202	21.0	26.0	24.0		516,582	-7.1	0.9	19		24	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	SSBP4	NM_001009998.3,NM_032627.4	,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	,	172/364,194/386	18542826	1,13003	2203	4299	6502	18403826	SO:0001819	synonymous_variant	170463				CCDS12378.1, CCDS32960.1	19p13.1	2008-02-05				ENSG00000130511			15676	protein-coding gene	gene with protein product		607391				12079286	Standard	NM_032627		Approved		uc002niy.3	Q9BWG4		ENST00000270061.7:c.582C>T	19.37:g.18542826C>T			18403826	Q9BWW5	Silent	SNP	HMMSmart_LisH,HMMPfam_SSDP	p.G194	ENST00000270061.7	37	c.582	CCDS12378.1	19																																																																																			-	HMMPfam_SSDP		0.682	SSBP4-002	KNOWN	basic|CCDS	protein_coding	SSBP4	protein_coding	OTTHUMT00000466348.3	C	NM_032627		18403826	+1	no_errors	NM_032627	genbank	human	validated	54_36p	silent	SNP	0.983	T
HS3ST2	9956	genome.wustl.edu	37	16	22926393	22926393	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr16:22926393G>A	ENST00000261374.3	+	2	1048	c.614G>A	c.(613-615)cGg>cAg	p.R205Q		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	205					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		GTGGTTGTGCGGAACCCTGTG	0.577																																																0			16											133.0	116.0	122.0					16																	22926393		2197	4300	6497	22833894	SO:0001583	missense	9956			AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.614G>A	16.37:g.22926393G>A	ENSP00000261374:p.Arg205Gln		22833894	Q52LZ1	Missense_Mutation	SNP	superfamily_SSF52540,HMMPfam_Sulfotransfer_1	p.R205Q	ENST00000261374.3	37	c.614	CCDS10606.1	16	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109054	0.77096	.	.	ENSG00000122254	ENST00000261374;ENST00000540146	T	0.79653	-1.29	5.07	4.11	0.48088	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.92077	0.7489	H	0.95679	3.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93508	0.6850	10	0.72032	D	0.01	.	12.7812	0.57479	0.0789:0.0:0.9211:0.0	.	205	Q9Y278	HS3S2_HUMAN	Q	205;213	ENSP00000261374:R205Q	ENSP00000261374:R205Q	R	+	2	0	HS3ST2	22833894	1.000000	0.71417	1.000000	0.80357	0.394000	0.30568	9.869000	0.99810	1.140000	0.42260	0.561000	0.74099	CGG	-	superfamily_SSF52540,HMMPfam_Sulfotransfer_1		0.577	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST2	protein_coding	OTTHUMT00000211598.1	G	NM_006043		22833894	+1	no_errors	NM_006043	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
NEFM	4741	genome.wustl.edu	37	8	24771918	24771918	+	Silent	SNP	C	C	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr8:24771918C>T	ENST00000221166.5	+	1	1394	c.612C>T	c.(610-612)cgC>cgT	p.R204R	NEFM_ENST00000518131.1_Silent_p.R204R|GS1-72M22.1_ENST00000607058.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|NEFM_ENST00000433454.2_5'Flank|NEFM_ENST00000437366.2_Silent_p.R204R|NEFM_ENST00000521540.1_3'UTR			P07197	NFM_HUMAN	neurofilament, medium polypeptide	204	Coil 1B.|Rod.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CGGCCATCCGCGCGCTGCGCA	0.647																																																0			8											41.0	36.0	38.0					8																	24771918		2202	4300	6502	24827823	SO:0001819	synonymous_variant	4741			BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.612C>T	8.37:g.24771918C>T			24827823	B4DGN2|E9PBF7|Q4QRK6	Silent	SNP	HMMPfam_Filament_head,HMMPfam_Filament,PatternScan_IF	p.R204	ENST00000221166.5	37	c.612	CCDS6046.1	8																																																																																			-	HMMPfam_Filament		0.647	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEFM	protein_coding	OTTHUMT00000254954.2	C	NM_005382		24827823	+1	no_errors	NM_005382	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
ZNF322	79692	genome.wustl.edu	37	6	26638633	26638633	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr6:26638633T>C	ENST00000415922.2	-	4	794	c.149A>G	c.(148-150)cAa>cGa	p.Q50R	ZNF322_ENST00000471278.1_Missense_Mutation_p.Q50R|ZNF322_ENST00000461899.1_5'Flank|RP11-457M11.2_ENST00000456172.1_RNA	NM_024639.4	NP_078915.2	Q6U7Q0	ZN322_HUMAN	zinc finger protein 322	50					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										ACAGAAGTTTTGCTTGCATTC	0.353																																																0			6											310.0	270.0	284.0					6																	26638633		2202	4299	6501	26746612	SO:0001583	missense	79692			AY376736	CCDS4617.1	6p22.1	2013-01-08	2011-07-29	2011-07-29	ENSG00000181315	ENSG00000181315		"""Zinc fingers, C2H2-type"""	23640	protein-coding gene	gene with protein product		610847	"""zinc finger protein 489"", ""HLA complex group 12"", ""zinc finger protein 322A"""	ZNF489, ZNF388, HCG12, ZNF322A		15555580	Standard	NM_024639		Approved	bA457M11.3, bA457M11.2	uc021yny.1	Q6U7Q0	OTTHUMG00000014460	ENST00000415922.2:c.149A>G	6.37:g.26638633T>C	ENSP00000418897:p.Gln50Arg		26746612	A8K1X3|Q0VDH6|Q6B0G2|Q86W72|Q9H5I9	Missense_Mutation	SNP	superfamily_SSF57667,HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.Q50R	ENST00000415922.2	37	c.149	CCDS4617.1	6	.	.	.	.	.	.	.	.	.	.	t	12.15	1.851928	0.32699	.	.	ENSG00000181315	ENST00000415922;ENST00000471278	T;T	0.26957	1.7;1.7	4.35	1.88	0.25563	.	0.348945	0.21020	N	0.081539	T	0.02304	0.0071	N	0.01352	-0.895	0.27920	N	0.938285	B	0.02656	0.0	B	0.01281	0.0	T	0.39542	-0.9609	10	0.59425	D	0.04	-11.6106	4.3207	0.11016	0.0:0.1051:0.2036:0.6913	.	50	Q6U7Q0	ZN322_HUMAN	R	50	ENSP00000418897:Q50R;ENSP00000419728:Q50R	ENSP00000418897:Q50R	Q	-	2	0	ZNF322	26746612	0.994000	0.37717	0.999000	0.59377	0.995000	0.86356	2.934000	0.48956	0.418000	0.25898	0.459000	0.35465	CAA	-	superfamily_SSF57667,HMMSmart_ZnF_C2H2		0.353	ZNF322-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF322A	protein_coding	OTTHUMT00000040126.2	T	NM_024639		26746612	-1	no_errors	NM_024639	genbank	human	validated	54_36p	missense	SNP	0.996	C
ZKSCAN4	387032	genome.wustl.edu	37	6	28214786	28214786	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr6:28214786C>A	ENST00000377294.2	-	4	982	c.739G>T	c.(739-741)Gat>Tat	p.D247Y	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.D92Y	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	247	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TGCTTTTCATCTCTGTAGAGG	0.453																																																0			6											143.0	130.0	135.0					6																	28214786		2203	4300	6503	28322765	SO:0001583	missense	387032			AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13854	protein-coding gene	gene with protein product		611643	"""zinc finger protein 307"", ""zinc finger protein 427"""	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.739G>T	6.37:g.28214786C>A	ENSP00000366509:p.Asp247Tyr		28322765	B2RE32|Q5U7L4	Missense_Mutation	SNP	HMMPfam_SCAN,HMMSmart_SCAN,superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.D247Y	ENST00000377294.2	37	c.739	CCDS4647.1	6	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586447	0.46110	.	.	ENSG00000187626	ENST00000377294;ENST00000423974	T;T	0.28454	1.61;1.61	3.98	3.98	0.46160	Krueppel-associated box (4);	.	.	.	.	T	0.46833	0.1413	M	0.91972	3.26	0.09310	N	1	D	0.76494	0.999	D	0.70016	0.967	T	0.45116	-0.9283	9	0.59425	D	0.04	.	6.1065	0.20077	0.0:0.7977:0.0:0.2023	.	247	Q969J2	ZKSC4_HUMAN	Y	247;92	ENSP00000366509:D247Y;ENSP00000401978:D92Y	ENSP00000366509:D247Y	D	-	1	0	ZKSCAN4	28322765	0.000000	0.05858	0.050000	0.19076	0.852000	0.48524	0.525000	0.22956	2.477000	0.83638	0.563000	0.77884	GAT	-	superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB		0.453	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN4	protein_coding	OTTHUMT00000040179.1	C	NM_019110		28322765	-1	no_errors	NM_019110	genbank	human	provisional	54_36p	missense	SNP	0.009	A
PRKD1	5587	genome.wustl.edu	37	14	30105511	30105511	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr14:30105511G>C	ENST00000331968.5	-	7	1404	c.1175C>G	c.(1174-1176)gCc>gGc	p.A392G	PRKD1_ENST00000551644.1_5'Flank|PRKD1_ENST00000415220.2_Missense_Mutation_p.A400G	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	392					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GGTTCTGTTGGCGTCCTCGTG	0.498																																																0			14											298.0	238.0	259.0					14																	30105511		2203	4300	6503	29175262	SO:0001583	missense	5587				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1175C>G	14.37:g.30105511G>C	ENSP00000333568:p.Ala392Gly		29175262	A6NL64|B2RAF6	Missense_Mutation	SNP	superfamily_SSF57889,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.A392G	ENST00000331968.5	37	c.1175	CCDS9637.1	14	.	.	.	.	.	.	.	.	.	.	G	12.38	1.919656	0.33908	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	T;T	0.66280	-0.2;-0.2	6.08	6.08	0.98989	.	0.120175	0.56097	D	0.000029	T	0.48114	0.1482	N	0.19112	0.55	0.34627	D	0.719256	B	0.02656	0.0	B	0.04013	0.001	T	0.51220	-0.8733	10	0.19590	T	0.45	-4.8988	16.8679	0.86033	0.0:0.128:0.872:0.0	.	392	Q15139	KPCD1_HUMAN	G	392;400	ENSP00000333568:A392G;ENSP00000390535:A400G	ENSP00000333568:A392G	A	-	2	0	PRKD1	29175262	1.000000	0.71417	0.996000	0.52242	0.862000	0.49288	6.165000	0.71891	2.894000	0.99253	0.591000	0.81541	GCC	-	NULL		0.498	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKD1	protein_coding	OTTHUMT00000276611.2	G	NM_002742		29175262	-1	no_errors	NM_002742	genbank	human	validated	54_36p	missense	SNP	1.000	C
PCDH7	5099	genome.wustl.edu	37	4	30725361	30725361	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr4:30725361G>A	ENST00000361762.2	+	1	3325	c.2317G>A	c.(2317-2319)Gat>Aat	p.D773N	PCDH7_ENST00000543491.1_Missense_Mutation_p.D773N	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	773	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D773N(1)|p.D726N(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AGACAGTGATGATGGCATCAA	0.453																																																2	Substitution - Missense(2)	breast(2)	4											64.0	61.0	62.0					4																	30725361		2203	4300	6503	30334459	SO:0001583	missense	5099			AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2317G>A	4.37:g.30725361G>A	ENSP00000355243:p.Asp773Asn		30334459	O60246|O60247|Q4W5C4	Missense_Mutation	SNP	HMMPfam_Cadherin_2,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin,HMMPfam_Cadherin,HMMPfam_Protocadherin	p.D726N	ENST00000361762.2	37	c.2176	CCDS33971.1	4	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792631	0.31685	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.50277	0.75;0.75	5.16	4.23	0.50019	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.35364	0.0929	L	0.38649	1.16	0.36221	D	0.851967	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.002;0.002;0.004	T	0.40683	-0.9550	9	0.54805	T	0.06	.	7.2971	0.26399	0.218:0.0:0.782:0.0	.	773;726;773	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	N	773;773;726	ENSP00000355243:D773N;ENSP00000441802:D773N	ENSP00000330302:D726N	D	+	1	0	PCDH7	30334459	0.999000	0.42202	0.988000	0.46212	0.966000	0.64601	3.833000	0.55790	2.683000	0.91414	0.655000	0.94253	GAT	-	superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA		0.453	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH7	protein_coding	OTTHUMT00000360366.1	G	NM_032457, NM_002589		30334459	+1	no_errors	NM_032457	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
ASXL1	171023	genome.wustl.edu	37	20	31023269	31023269	+	Silent	SNP	C	C	T	rs529527086		TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr20:31023269C>T	ENST00000375687.4	+	13	3178	c.2754C>T	c.(2752-2754)caC>caT	p.H918H	ASXL1_ENST00000306058.5_Silent_p.H913H	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	918					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CCAGAGAACACATACCATCTG	0.507			"""F, N, Mis"""		"""MDS, CMML"""																																		Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0			20											74.0	69.0	71.0					20																	31023269		2203	4300	6503	30486930	SO:0001819	synonymous_variant	171023			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.2754C>T	20.37:g.31023269C>T			30486930	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	NULL	p.H918	ENST00000375687.4	37	c.2754	CCDS13201.1	20																																																																																			-	NULL		0.507	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	protein_coding	OTTHUMT00000078624.2	C	NM_015338		30486930	+1	no_errors	NM_015338	genbank	human	reviewed	54_36p	silent	SNP	0.000	T
PRRC2A	7916	genome.wustl.edu	37	6	31604061	31604061	+	Silent	SNP	G	G	A			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr6:31604061G>A	ENST00000376033.2	+	26	5934	c.5700G>A	c.(5698-5700)caG>caA	p.Q1900Q	PRRC2A_ENST00000376007.4_Silent_p.Q1900Q	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1900						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TCAAGGGCCAGTTTCTGGATT	0.547																																																0			6											91.0	117.0	108.0					6																	31604061		1510	2708	4218	31712040	SO:0001819	synonymous_variant	7916			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.5700G>A	6.37:g.31604061G>A			31712040	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Silent	SNP	HMMPfam_BAT2_N	p.Q1900	ENST00000376033.2	37	c.5700	CCDS4708.1	6																																																																																			-	NULL		0.547	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BAT2	protein_coding	OTTHUMT00000259319.1	G	NM_080686		31712040	+1	no_errors	NM_080686	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
Unknown	0	genome.wustl.edu	37	4	33013043	33013043	+	IGR	SNP	T	T	C			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr4:33013043T>C								RP11-240A16.1 (658201 upstream) : RP11-802H3.2 (422088 downstream)																							ACTGAACAAATTCAAAATTGT	0.373																																																0			4																																								32689438	SO:0001628	intergenic_variant	642305																															4.37:g.33013043T>C			32689438		RNA	SNP	-	NULL		37	NULL		4																																																																																			-	-	0	0.373					LOC642305			T			32689438	-1	pseudogene	XR_042368	genbank	human	model	54_36p	rna	SNP	1.000	C
DPPA3P2	400206	genome.wustl.edu	37	14	36840633	36840633	+	RNA	SNP	G	G	A			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr14:36840633G>A	ENST00000557188.1	+	0	264									developmental pluripotency associated 3 pseudogene 2																		ACCCATCACAGTTTAATCCAA	0.478																																																0			14																																								35910384			0					14q13.3	2012-07-04			ENSG00000188831	ENSG00000188831			20417	pseudogene	pseudogene							Standard	NG_023379		Approved	STELLAR			OTTHUMG00000170728		14.37:g.36840633G>A			35910384		Silent	SNP	NULL	p.Q5	ENST00000557188.1	37	c.15		14																																																																																			-	NULL		0.478	DPPA3P2-002	KNOWN	basic	processed_transcript	uc001wtp.2	pseudogene	OTTHUMT00000410122.1	G			35910384	+1	no_errors	ENST00000340350	ensembl	human	known	54_36p	silent	SNP	0.000	A
TGM5	9333	genome.wustl.edu	37	15	43527071	43527071	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr15:43527071C>G	ENST00000220420.5	-	11	1778	c.1771G>C	c.(1771-1773)Gac>Cac	p.D591H	TGM5_ENST00000349114.4_Missense_Mutation_p.D509H	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	591					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	ATCAGCTTGTCTGTTGACAGG	0.458																																																0			15											142.0	131.0	135.0					15																	43527071		2203	4299	6502	41314363	SO:0001583	missense	9333			AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.1771G>C	15.37:g.43527071C>G	ENSP00000220420:p.Asp591His		41314363	O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	superfamily_E set domains,HMMPfam_Transglut_N,superfamily_Cysteine proteinases,HMMSmart_SM00460,HMMPfam_Transglut_core,PatternScan_TRANSGLUTAMINASES,superfamily_Transglutaminase two C-terminal domains,HMMPfam_Transglut_C	p.D591H	ENST00000220420.5	37	c.1771	CCDS32212.1	15	.	.	.	.	.	.	.	.	.	.	C	19.07	3.756583	0.69648	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	T;T	0.65364	1.44;-0.15	4.65	4.65	0.58169	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.116081	0.56097	D	0.000024	T	0.74283	0.3696	L	0.58669	1.825	0.40447	D	0.980108	D;D	0.89917	1.0;0.996	D;D	0.76071	0.987;0.985	T	0.77528	-0.2554	10	0.87932	D	0	-33.944	12.8838	0.58032	0.0:1.0:0.0:0.0	.	509;591	O43548-2;O43548	.;TGM5_HUMAN	H	591;509;590	ENSP00000220420:D591H;ENSP00000220419:D509H	ENSP00000220420:D591H	D	-	1	0	TGM5	41314363	0.998000	0.40836	0.992000	0.48379	0.992000	0.81027	4.654000	0.61469	2.416000	0.81992	0.563000	0.77884	GAC	-	superfamily_Transglutaminase two C-terminal domains,HMMPfam_Transglut_C		0.458	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM5	protein_coding	OTTHUMT00000432257.1	C	NM_004245		41314363	-1	no_errors	NM_201631	genbank	human	validated	54_36p	missense	SNP	0.994	G
TGM5	9333	genome.wustl.edu	37	15	43528014	43528014	+	Missense_Mutation	SNP	A	A	C	rs565999024		TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr15:43528014A>C	ENST00000220420.5	-	10	1374	c.1367T>G	c.(1366-1368)gTg>gGg	p.V456G	TGM5_ENST00000349114.4_Missense_Mutation_p.V374G	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	456					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CTTCAGAAACACCTGCCTCTC	0.602																																																0			15											74.0	75.0	75.0					15																	43528014		2203	4299	6502	41315306	SO:0001583	missense	9333			AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.1367T>G	15.37:g.43528014A>C	ENSP00000220420:p.Val456Gly		41315306	O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	HMMPfam_Transglut_N,HMMPfam_Transglut_core,HMMSmart_SM00460,HMMPfam_Transglut_C,superfamily_Transglutaminase two C-terminal domains,PatternScan_TRANSGLUTAMINASES,superfamily_E set domains,superfamily_Cysteine proteinases	p.V456G	ENST00000220420.5	37	c.1367	CCDS32212.1	15	.	.	.	.	.	.	.	.	.	.	A	14.80	2.644675	0.47258	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	T;T	0.56103	0.48;0.48	5.91	2.08	0.27032	.	0.580976	0.17206	N	0.182916	T	0.66446	0.2790	M	0.85373	2.75	0.52099	D	0.99994	D;P	0.55800	0.973;0.956	P;P	0.59171	0.853;0.545	T	0.67914	-0.5547	10	0.87932	D	0	-13.4092	6.0139	0.19592	0.6916:0.1397:0.1688:0.0	.	374;456	O43548-2;O43548	.;TGM5_HUMAN	G	456;374;455	ENSP00000220420:V456G;ENSP00000220419:V374G	ENSP00000220420:V456G	V	-	2	0	TGM5	41315306	0.010000	0.17322	0.998000	0.56505	0.474000	0.32979	1.676000	0.37565	1.027000	0.39758	-0.408000	0.06270	GTG	-	superfamily_Cysteine proteinases		0.602	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM5	protein_coding	OTTHUMT00000432257.1	A	NM_004245		41315306	-1	no_errors	NM_201631	genbank	human	validated	54_36p	missense	SNP	0.752	C
KPNB1	3837	genome.wustl.edu	37	17	45755731	45755731	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr17:45755731T>C	ENST00000290158.4	+	19	2712	c.2305T>C	c.(2305-2307)Tat>Cat	p.Y769H	KPNB1_ENST00000537679.1_Missense_Mutation_p.Y553H|KPNB1_ENST00000540627.1_Missense_Mutation_p.Y624H|KPNB1_ENST00000535458.2_Missense_Mutation_p.Y624H	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	769					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						CTTGGAAGCCTATACTGGAAT	0.473																																																0			17											125.0	110.0	115.0					17																	45755731		2203	4300	6503	43110730	SO:0001583	missense	3837			L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"""Importins"", ""Armadillo repeat containing"""	6400	protein-coding gene	gene with protein product	"""importin 1"""	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.2305T>C	17.37:g.45755731T>C	ENSP00000290158:p.Tyr769His		43110730	B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Missense_Mutation	SNP	superfamily_ARM repeat,HMMPfam_IBN_N,HMMPfam_HEAT,HMMSmart_SM00185	p.Y769H	ENST00000290158.4	37	c.2305	CCDS11513.1	17	.	.	.	.	.	.	.	.	.	.	T	15.27	2.783280	0.49891	.	.	ENSG00000108424	ENST00000535458;ENST00000290158;ENST00000540627;ENST00000537679	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	5.76	5.76	0.90799	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83727	0.5317	M	0.89785	3.06	0.42916	D	0.994270	D;D	0.69078	0.997;0.995	P;P	0.61940	0.896;0.886	D	0.87937	0.2714	9	0.87932	D	0	-11.0266	16.0766	0.80971	0.0:0.0:0.0:1.0	.	553;769	F5H4R7;Q14974	.;IMB1_HUMAN	H	624;769;624;553	ENSP00000438253:Y624H;ENSP00000290158:Y769H;ENSP00000438964:Y624H;ENSP00000445006:Y553H	ENSP00000290158:Y769H	Y	+	1	0	KPNB1	43110730	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.018000	0.88722	2.202000	0.70862	0.533000	0.62120	TAT	-	superfamily_ARM repeat		0.473	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNB1	protein_coding	OTTHUMT00000089755.2	T	NM_002265		43110730	+1	no_errors	NM_002265	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
NNT	23530	genome.wustl.edu	37	5	43613218	43613218	+	Silent	SNP	G	G	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr5:43613218G>T	ENST00000264663.5	+	3	581	c.360G>T	c.(358-360)ctG>ctT	p.L120L	NNT_ENST00000344920.4_Silent_p.L120L|NNT_ENST00000512996.2_5'UTR	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	120					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					AGGAAGTGCTGGCTTCTGATT	0.408																																																0			5											75.0	76.0	76.0					5																	43613218		2203	4300	6503	43648975	SO:0001819	synonymous_variant	23530			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.360G>T	5.37:g.43613218G>T			43648975	Q16796|Q2TB60|Q8N3V4	Silent	SNP	superfamily_SSF52283,PatternScan_ALADH_PNT_1,HMMPfam_AlaDh_PNT_N,superfamily_NAD(P)-bd,HMMPfam_AlaDh_PNT_C,PatternScan_ALADH_PNT_2,HMMPfam_PNTB,superfamily_SSF52467	p.L120	ENST00000264663.5	37	c.360	CCDS3949.1	5																																																																																			-	superfamily_SSF52283,HMMPfam_AlaDh_PNT_N		0.408	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NNT	protein_coding	OTTHUMT00000214026.1	G	NM_182977		43648975	+1	no_errors	NM_012343	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
CELSR1	9620	genome.wustl.edu	37	22	46787570	46787570	+	Silent	SNP	G	G	A	rs139684569	byFrequency	TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr22:46787570G>A	ENST00000262738.3	-	15	6107	c.6108C>T	c.(6106-6108)tgC>tgT	p.C2036C		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2036	Laminin EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00460}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ACGGGTTGTCGCAGCGGTTGC	0.687													G|||	9	0.00179712	0.0068	0.0	5008	,	,		16012	0.0		0.0	False		,,,				2504	0.0															0			22						G		36,4366		0,36,2165	31.0	30.0	31.0		6108	-8.9	0.8	22	dbSNP_134	31	0,8588		0,0,4294	no	coding-synonymous	CELSR1	NM_014246.1		0,36,6459	AA,AG,GG		0.0,0.8178,0.2771		2036/3015	46787570	36,12954	2201	4294	6495	45166234	SO:0001819	synonymous_variant	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.6108C>T	22.37:g.46787570G>A			45166234	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00179,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,PatternScan_ASX_HYDROXYL,HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMSmart_SM00008,HMMPfam_HRM,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2	p.C2036	ENST00000262738.3	37	c.6108	CCDS14076.1	22																																																																																			-	superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_LAM_1		0.687	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	protein_coding	OTTHUMT00000318037.1	G	NM_014246		45166234	-1	no_errors	NM_014246	genbank	human	reviewed	54_36p	silent	SNP	0.992	A
GPR110	266977	genome.wustl.edu	37	6	46988487	46988487	+	Silent	SNP	C	C	A	rs371309909		TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr6:46988487C>A	ENST00000371253.2	-	7	806	c.591G>T	c.(589-591)tcG>tcT	p.S197S	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000371243.2_Silent_p.S197S|GPR110_ENST00000283297.5_5'Flank	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	197	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TGACCTGAACCGACTCAAAAC	0.398																																																0			6											112.0	104.0	106.0					6																	46988487		2203	4300	6503	47096446	SO:0001819	synonymous_variant	266977			AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.591G>T	6.37:g.46988487C>A			47096446	Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Silent	SNP	superfamily_SEA domain,HMMPfam_SEA,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2	p.S197	ENST00000371253.2	37	c.591	CCDS34471.1	6																																																																																			-	superfamily_SEA domain,HMMPfam_SEA		0.398	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR110	protein_coding	OTTHUMT00000040810.2	C	NM_153840		47096446	-1	no_errors	NM_153840	genbank	human	validated	54_36p	silent	SNP	0.340	A
DEFB110	245913	genome.wustl.edu	37	6	49986696	49986696	+	Silent	SNP	C	C	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr6:49986696C>T	ENST00000371148.2	-	2	243	c.198G>A	c.(196-198)caG>caA	p.Q66Q	DEFB110_ENST00000393660.2_Intron	NM_001037497.1	NP_001032586.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus	66					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					ATCGTTACTGCTGCAAGCAGC	0.413																																																0			6											117.0	99.0	105.0					6																	49986696		2203	4299	6502	50094655	SO:0001819	synonymous_variant	245914			DQ012014, BC148541	CCDS43473.1, CCDS34475.1	6p12.3	2010-11-26	2010-11-26		ENSG00000203970	ENSG00000203970		"""Defensins, beta"""	18091	protein-coding gene	gene with protein product			"""defensin, beta 110"""			11854508, 16033865	Standard	NM_001037728		Approved	DEFB-10, DEFB-11, DEFB111	uc003pac.3	Q30KQ9	OTTHUMG00000160208	ENST00000371148.2:c.198G>A	6.37:g.49986696C>T			50094655	Q30KR0	Silent	SNP	HMMPfam_Defensin_beta	p.Q66	ENST00000371148.2	37	c.198	CCDS34475.1	6																																																																																			-	NULL		0.413	DEFB110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB111	protein_coding	OTTHUMT00000359664.1	C	NM_001037728		50094655	-1	no_errors	NM_001037497	genbank	human	provisional	54_36p	silent	SNP	0.003	T
PODN	127435	genome.wustl.edu	37	1	53535708	53535708	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr1:53535708C>T	ENST00000312553.5	+	2	332	c.325C>T	c.(325-327)Cct>Tct	p.P109S	PODN_ENST00000395871.2_Missense_Mutation_p.P109S|PODN_ENST00000371500.3_Missense_Mutation_p.P90S|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	61					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGAGCCCGGGCCTGGCCCAGC	0.677																																																0			1											27.0	31.0	30.0					1																	53535708		2203	4299	6502	53308296	SO:0001583	missense	127435			AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	23174	protein-coding gene	gene with protein product	"""podocan proteoglycan"""	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.325C>T	1.37:g.53535708C>T	ENSP00000308315:p.Pro109Ser		53308296	B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	superfamily_SSF52058,HMMPfam_LRRNT,HMMSmart_LRRNT,HMMSmart_LRR_TYP,HMMPfam_LRR_1,superfamily_SSF52047	p.P109S	ENST00000312553.5	37	c.325	CCDS573.1	1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634864	0.29068	.	.	ENSG00000174348	ENST00000371500;ENST00000395871;ENST00000312553	T;T;T	0.59906	0.97;0.23;1.06	3.5	2.56	0.30785	.	0.263724	0.36591	N	0.002509	T	0.37571	0.1008	N	0.19112	0.55	0.09310	N	1	B;B;B	0.25609	0.038;0.13;0.13	B;B;B	0.21917	0.001;0.037;0.037	T	0.21484	-1.0244	10	0.35671	T	0.21	.	8.7622	0.34680	0.0:0.7672:0.2328:0.0	.	109;90;109	Q7Z5L7-4;Q7Z5L7-2;Q7Z5L7-3	.;.;.	S	90;109;109	ENSP00000360555:P90S;ENSP00000379212:P109S;ENSP00000308315:P109S	ENSP00000308315:P109S	P	+	1	0	PODN	53308296	0.002000	0.14202	0.062000	0.19696	0.134000	0.20937	0.471000	0.22100	1.028000	0.39785	0.491000	0.48974	CCT	-	superfamily_SSF52058		0.677	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PODN	protein_coding	OTTHUMT00000024735.1	C	NM_153703		53308296	+1	no_errors	NM_153703	genbank	human	validated	54_36p	missense	SNP	0.002	T
MMP2	4313	genome.wustl.edu	37	16	55532304	55532304	+	Silent	SNP	C	C	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr16:55532304C>T	ENST00000219070.4	+	11	2222	c.1713C>T	c.(1711-1713)gcC>gcT	p.A571A	MMP2_ENST00000543485.1_Silent_p.A495A|MMP2_ENST00000437642.2_Silent_p.A521A|MMP2_ENST00000570308.1_Silent_p.A495A	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	571	Required for inhibitor TIMP2 binding.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	TGGATGCCGCCTTTAACTGGA	0.557																																																0			16											96.0	90.0	92.0					16																	55532304		2198	4300	6498	54089805	SO:0001819	synonymous_variant	4313				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1713C>T	16.37:g.55532304C>T			54089805	B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Silent	SNP	superfamily_PGBD_like,HMMPfam_PG_binding_1,PatternScan_CYSTEINE_SWITCH,superfamily_SSF55486,HMMSmart_ZnMc,HMMPfam_Peptidase_M10,superfamily_Kringle-like,HMMSmart_FN2,HMMPfam_fn2,PatternScan_FN2_1,PatternScan_ZINC_PROTEASE,superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX,PatternScan_HEMOPEXIN	p.A571	ENST00000219070.4	37	c.1713	CCDS10752.1	16																																																																																			-	superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX		0.557	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP2	protein_coding	OTTHUMT00000256913.3	C			54089805	+1	no_errors	NM_004530	genbank	human	reviewed	54_36p	silent	SNP	0.891	T
VSTM2A	222008	genome.wustl.edu	37	7	54612403	54612403	+	Silent	SNP	G	G	A			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr7:54612403G>A	ENST00000407838.3	+	2	574	c.168G>A	c.(166-168)tcG>tcA	p.S56S	VSTM2A_ENST00000402613.3_Silent_p.S56S|VSTM2A_ENST00000302287.3_Silent_p.S56S|VSTM2A_ENST00000404951.1_Silent_p.S56S|VSTM2A_ENST00000402026.2_Silent_p.S55S	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	56	Ig-like V-type.					extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GCTCCGCCTCGGTGTATCTGG	0.667																																																0			7											41.0	42.0	42.0					7																	54612403		2203	4299	6502	54579897	SO:0001819	synonymous_variant	222008			BC028404	CCDS5512.2, CCDS75604.1	7p11.2	2013-01-11	2007-08-10	2007-08-10	ENSG00000170419	ENSG00000170419		"""Immunoglobulin superfamily / V-set domain containing"""	28499	protein-coding gene	gene with protein product			"""V-set and transmembrane domain containing 2"""	VSTM2		12477932	Standard	XM_006715663		Approved	MGC33530	uc010kzf.3	Q8TAG5	OTTHUMG00000129271	ENST00000407838.3:c.168G>A	7.37:g.54612403G>A			54579897	A4D2E9|B5MC94	Silent	SNP	HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG	p.S56	ENST00000407838.3	37	c.168	CCDS5512.2	7																																																																																			-	HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG		0.667	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VSTM2A	protein_coding	OTTHUMT00000318694.1	G	NM_182546		54579897	+1	no_errors	NM_182546	genbank	human	validated	54_36p	silent	SNP	0.929	A
SCAF1	58506	genome.wustl.edu	37	19	50155966	50155966	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr19:50155966G>T	ENST00000360565.3	+	7	2444	c.2320G>T	c.(2320-2322)Gac>Tac	p.D774Y		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	774	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GAAGGCGCTGGACGGGGGTga	0.706																																																0			19											11.0	14.0	13.0					19																	50155966		2149	4241	6390	54847778	SO:0001583	missense	58506			AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.2320G>T	19.37:g.50155966G>T	ENSP00000353769:p.Asp774Tyr		54847778	Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	NULL	p.D774Y	ENST00000360565.3	37	c.2320	CCDS33074.1	19	.	.	.	.	.	.	.	.	.	.	G	9.201	1.028464	0.19512	.	.	ENSG00000126461	ENST00000360565	T	0.33865	1.39	3.73	2.61	0.31194	.	0.530178	0.14090	N	0.342109	T	0.28499	0.0705	N	0.19112	0.55	0.09310	N	1	D	0.54207	0.965	P	0.51229	0.663	T	0.04708	-1.0932	9	.	.	.	-16.5023	6.1923	0.20530	0.1043:0.0:0.7085:0.1872	.	774	Q9H7N4	SFR19_HUMAN	Y	774	ENSP00000353769:D774Y	.	D	+	1	0	SCAF1	54847778	0.027000	0.19231	0.556000	0.28293	0.825000	0.46686	0.563000	0.23547	1.913000	0.55393	0.561000	0.74099	GAC	-	NULL		0.706	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF1	protein_coding	OTTHUMT00000465764.1	G	NM_021228		54847778	+1	no_errors	NM_021228	genbank	human	provisional	54_36p	missense	SNP	0.093	T
USP32	84669	genome.wustl.edu	37	17	58258690	58258690	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr17:58258690T>C	ENST00000300896.4	-	32	4737	c.4543A>G	c.(4543-4545)Att>Gtt	p.I1515V	USP32_ENST00000592339.1_Missense_Mutation_p.I1185V	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1515	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CTTACCGAAATTGCATATAGA	0.378																																																0			17											88.0	87.0	87.0					17																	58258690		2203	4300	6503	55613472	SO:0001583	missense	84669			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.4543A>G	17.37:g.58258690T>C	ENSP00000300896:p.Ile1515Val		55613472	Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	superfamily_SSF47473,HMMSmart_EFh,PatternScan_EF_HAND_1,HMMPfam_efhand,HMMSmart_DUSP,HMMPfam_DUF1055,superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2	p.I1515V	ENST00000300896.4	37	c.4543	CCDS32697.1	17	.	.	.	.	.	.	.	.	.	.	T	13.31	2.200187	0.38905	.	.	ENSG00000170832	ENST00000300896	T	0.18810	2.19	5.45	5.45	0.79879	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.29914	0.0748	L	0.32530	0.975	0.80722	D	1	D	0.53151	0.958	D	0.70716	0.97	T	0.03630	-1.1018	10	0.02654	T	1	.	14.6836	0.69035	0.0:0.0:0.0:1.0	.	1515	Q8NFA0	UBP32_HUMAN	V	1515	ENSP00000300896:I1515V	ENSP00000300896:I1515V	I	-	1	0	USP32	55613472	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.758000	0.85224	2.074000	0.62210	0.454000	0.30748	ATT	-	superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_2		0.378	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP32	protein_coding	OTTHUMT00000449235.2	T	NM_032582		55613472	-1	no_errors	NM_032582	genbank	human	validated	54_36p	missense	SNP	1.000	C
KDR	3791	genome.wustl.edu	37	4	55963933	55963933	+	Splice_Site	SNP	C	C	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr4:55963933C>T	ENST00000263923.4	-	18	2805	c.2510G>A	c.(2509-2511)gGt>gAt	p.G837D		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	837	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AAGAGGCTTACCTAGAGTCAA	0.448			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																													Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0			4											91.0	82.0	85.0					4																	55963933		2203	4300	6503	55658690	SO:0001630	splice_region_variant	3791			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2510-1G>A	4.37:g.55963933C>T			55658690	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	superfamily_SSF48726,HMMSmart_IG,HMMPfam_V-set,HMMPfam_I-set,HMMSmart_IGc2,HMMPfam_ig,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR	p.G837D	ENST00000263923.4	37	c.2510	CCDS3497.1	4	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987918	0.93106	.	.	ENSG00000128052	ENST00000263923	D	0.89617	-2.54	5.86	5.86	0.93980	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93582	0.7951	L	0.53671	1.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93545	0.6881	10	0.87932	D	0	.	20.1707	0.98158	0.0:1.0:0.0:0.0	.	837	P35968	VGFR2_HUMAN	D	837	ENSP00000263923:G837D	ENSP00000263923:G837D	G	-	2	0	KDR	55658690	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	7.818000	0.86416	2.773000	0.95371	0.655000	0.94253	GGT	-	superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc		0.448	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDR	protein_coding	OTTHUMT00000250645.1	C		Missense_Mutation	55658690	-1	no_errors	NM_002253	genbank	human	validated	54_36p	missense	SNP	1.000	T
MOS	4342	genome.wustl.edu	37	8	57026336	57026336	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr8:57026336C>G	ENST00000311923.1	-	1	205	c.206G>C	c.(205-207)gGa>gCa	p.G69A		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	69	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			GCCAAACCCTCCAGCTCCCAG	0.637																																					Esophageal Squamous(124;373 2870 4778)											0			8											74.0	68.0	70.0					8																	57026336		2203	4300	6503	57188890	SO:0001583	missense	4342				CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.206G>C	8.37:g.57026336C>G	ENSP00000310722:p.Gly69Ala		57188890	Q3KPG9|Q3KPH0	Missense_Mutation	SNP	superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.G69A	ENST00000311923.1	37	c.206	CCDS6164.1	8	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290168	0.80914	.	.	ENSG00000172680	ENST00000311923	D	0.96334	-3.98	5.14	5.14	0.70334	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98874	0.9619	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99632	1.0986	10	0.87932	D	0	.	18.6116	0.91286	0.0:1.0:0.0:0.0	.	69	P00540	MOS_HUMAN	A	69	ENSP00000310722:G69A	ENSP00000310722:G69A	G	-	2	0	MOS	57188890	1.000000	0.71417	0.156000	0.22583	0.760000	0.43138	7.697000	0.84279	2.387000	0.81309	0.557000	0.71058	GGA	-	superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP		0.637	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOS	protein_coding	OTTHUMT00000378174.1	C	NM_005372		57188890	-1	no_errors	NM_005372	genbank	human	validated	54_36p	missense	SNP	0.986	G
DTX4	23220	genome.wustl.edu	37	11	58949292	58949292	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr11:58949292G>A	ENST00000227451.3	+	2	396	c.292G>A	c.(292-294)Gac>Aac	p.D98N	DTX4_ENST00000532982.1_5'UTR	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	98	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.				innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GTGGGAGAACGACAATGGCTC	0.617																																																0			11											111.0	119.0	117.0					11																	58949292		2188	4294	6482	58705868	SO:0001583	missense	23220			AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"""RING-type (C3HC4) zinc fingers"""	29151	protein-coding gene	gene with protein product			"""deltex 4 homolog (Drosophila)"", ""deltex homolog 4 (Drosophila)"""			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.292G>A	11.37:g.58949292G>A	ENSP00000227451:p.Asp98Asn		58705868	Q0VF38	Missense_Mutation	SNP	HMMPfam_WWE,HMMSmart_SM00678,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4	p.D98N	ENST00000227451.3	37	c.292	CCDS44612.1	11	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861272	0.91433	.	.	ENSG00000110042	ENST00000227451	T	0.33654	1.4	4.74	3.83	0.44106	WWE domain (2);WWE domain, subgroup (1);	.	.	.	.	T	0.54447	0.1859	M	0.76727	2.345	0.49389	D	0.999781	D	0.71674	0.998	D	0.64506	0.926	T	0.53975	-0.8362	9	0.33141	T	0.24	.	11.8967	0.52659	0.0852:0.0:0.9148:0.0	.	98	Q9Y2E6	DTX4_HUMAN	N	98	ENSP00000227451:D98N	ENSP00000227451:D98N	D	+	1	0	DTX4	58705868	1.000000	0.71417	0.976000	0.42696	0.993000	0.82548	9.222000	0.95196	1.240000	0.43803	0.655000	0.94253	GAC	-	HMMPfam_WWE,HMMSmart_SM00678		0.617	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX4	protein_coding	OTTHUMT00000394228.1	G	XM_166213		58705868	+1	no_errors	NM_015177	genbank	human	validated	54_36p	missense	SNP	1.000	A
VPS13C	54832	genome.wustl.edu	37	15	62201317	62201317	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr15:62201317C>T	ENST00000261517.5	-	65	8925	c.8852G>A	c.(8851-8853)gGt>gAt	p.G2951D	VPS13C_ENST00000395896.4_Missense_Mutation_p.G2951D|VPS13C_ENST00000395898.3_Missense_Mutation_p.G2908D|VPS13C_ENST00000249837.3_Missense_Mutation_p.G2908D	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CACCAAGATACCCCCATTCTA	0.348																																																0			15											114.0	110.0	112.0					15																	62201317		2203	4300	6503	59988609	SO:0001583	missense	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.8852G>A	15.37:g.62201317C>T	ENSP00000261517:p.Gly2951Asp		59988609		Missense_Mutation	SNP	HMMPfam_DUF1162	p.G2951D	ENST00000261517.5	37	c.8852	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	C	18.75	3.690606	0.68271	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T;T	0.32753	1.44;1.44;1.44;1.52	6.03	4.02	0.46733	Vacuolar protein sorting-associated protein (1);	0.051704	0.85682	D	0.000000	T	0.60157	0.2247	M	0.85859	2.78	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0	D;D;D;D;D	0.83275	0.991;0.991;0.996;0.996;0.995	T	0.69221	-0.5202	10	0.62326	D	0.03	.	16.233	0.82357	0.0:0.7493:0.2507:0.0	.	2951;2908;2951;2908;2951	F5GZG8;Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;.;VP13C_HUMAN	D	2908;2951;2951;2951	ENSP00000249837:G2908D;ENSP00000261517:G2951D;ENSP00000379233:G2951D;ENSP00000379235:G2951D	ENSP00000249837:G2908D	G	-	2	0	VPS13C	59988609	1.000000	0.71417	0.913000	0.36048	0.478000	0.33099	4.507000	0.60434	1.512000	0.48834	0.655000	0.94253	GGT	-	HMMPfam_DUF1162		0.348	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	protein_coding	OTTHUMT00000415997.1	C	NM_017684		59988609	-1	no_errors	NM_020821	genbank	human	validated	54_36p	missense	SNP	0.954	T
FIZ1	84922	genome.wustl.edu	37	19	56104813	56104813	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr19:56104813C>T	ENST00000221665.3	-	3	583	c.494G>A	c.(493-495)gGc>gAc	p.G165D	FIZ1_ENST00000592585.1_3'UTR	NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	165					positive regulation of protein phosphorylation (GO:0001934)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GGCCCCTGAGCCCCCGCACAC	0.781																																																0			19											2.0	4.0	3.0					19																	56104813		1366	2619	3985	60796625	SO:0001583	missense	84922			AK027674	CCDS12928.1	19q13.42	2013-01-08				ENSG00000179943		"""Zinc fingers, C2H2-type"""	25917	protein-coding gene	gene with protein product		609133				12566383	Standard	NM_032836		Approved	FLJ14768, ZNF798	uc002qli.4	Q96SL8		ENST00000221665.3:c.494G>A	19.37:g.56104813C>T	ENSP00000221665:p.Gly165Asp		60796625	A2RU72|Q6ZMJ7	Missense_Mutation	SNP	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,PatternScan_2FE2S_FER_1	p.G165D	ENST00000221665.3	37	c.494	CCDS12928.1	19	.	.	.	.	.	.	.	.	.	.	C	0.893	-0.724965	0.03158	.	.	ENSG00000179943	ENST00000221665	T	0.09723	2.95	3.38	3.38	0.38709	.	.	.	.	.	T	0.06234	0.0161	N	0.08118	0	0.50467	D	0.999879	B	0.18863	0.031	B	0.16722	0.016	T	0.25047	-1.0143	9	0.87932	D	0	.	10.5357	0.45002	0.0:1.0:0.0:0.0	.	165	Q96SL8	FIZ1_HUMAN	D	165	ENSP00000221665:G165D	ENSP00000221665:G165D	G	-	2	0	FIZ1	60796625	0.081000	0.21417	0.046000	0.18839	0.368000	0.29767	0.648000	0.24828	1.910000	0.55303	0.555000	0.69702	GGC	-	NULL		0.781	FIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIZ1	protein_coding	OTTHUMT00000453350.1	C	NM_032836		60796625	-1	no_errors	NM_032836	genbank	human	reviewed	54_36p	missense	SNP	0.013	T
UBA6	55236	genome.wustl.edu	37	4	68501269	68501269	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr4:68501269A>T	ENST00000322244.5	-	20	1803	c.1744T>A	c.(1744-1746)Tta>Ata	p.L582I		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	582					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AGATTTGCTAAGCAACGACTA	0.363																																																0			4											93.0	87.0	89.0					4																	68501269		2203	4300	6503	68183864	SO:0001583	missense	55236			AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.1744T>A	4.37:g.68501269A>T	ENSP00000313454:p.Leu582Ile		68183864	A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	superfamily_Activating enzymes of the ubiquitin-like proteins,HMMPfam_ThiF,HMMPfam_UBA_e1_thiolCys,HMMPfam_UBACT,HMMPfam_UBA_e1_C	p.L582I	ENST00000322244.5	37	c.1744	CCDS3516.1	4	.	.	.	.	.	.	.	.	.	.	A	14.05	2.419551	0.42918	.	.	ENSG00000033178	ENST00000322244	T	0.45276	0.9	5.11	0.814	0.18756	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.194288	0.30695	N	0.009066	T	0.24928	0.0605	N	0.12663	0.25	0.80722	D	1	B	0.06786	0.001	B	0.15484	0.013	T	0.06445	-1.0826	10	0.42905	T	0.14	-9.1824	13.9161	0.63899	0.3256:0.6744:0.0:0.0	.	582	A0AVT1	UBA6_HUMAN	I	582	ENSP00000313454:L582I	ENSP00000313454:L582I	L	-	1	2	UBA6	68183864	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	1.917000	0.39996	0.237000	0.21200	0.377000	0.23210	TTA	-	superfamily_Activating enzymes of the ubiquitin-like proteins,HMMPfam_ThiF		0.363	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA6	protein_coding	OTTHUMT00000251429.2	A	NM_018227		68183864	-1	no_errors	NM_018227	genbank	human	validated	54_36p	missense	SNP	1.000	T
ZNF638	27332	genome.wustl.edu	37	2	71654514	71654514	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr2:71654514C>A	ENST00000409544.1	+	24	6145	c.5515C>A	c.(5515-5517)Cta>Ata	p.L1839I	ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.L1839I|ZNF638_ENST00000409407.1_Missense_Mutation_p.L779I	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1839					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GGAAGAAGATCTAAAAACCAT	0.338																																																0			2											49.0	50.0	50.0					2																	71654514		2202	4298	6500	71508022	SO:0001583	missense	27332			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.5515C>A	2.37:g.71654514C>A	ENSP00000386433:p.Leu1839Ile		71508022	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	HMMSmart_SM00451,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1	p.L1839I	ENST00000409544.1	37	c.5515	CCDS1917.1	2	.	.	.	.	.	.	.	.	.	.	C	8.242	0.807064	0.16467	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407	T;T;T	0.32023	1.47;1.47;1.87	5.18	1.34	0.21922	.	0.676716	0.13247	N	0.402391	T	0.19446	0.0467	L	0.27053	0.805	0.80722	D	1	P;P	0.38167	0.621;0.534	B;B	0.41271	0.352;0.202	T	0.09975	-1.0650	10	0.21540	T	0.41	-0.0147	4.0089	0.09613	0.1626:0.5739:0.0:0.2636	.	1839;1839	Q14966-3;Q14966	.;ZN638_HUMAN	I	1839;1839;779	ENSP00000264447:L1839I;ENSP00000386433:L1839I;ENSP00000386813:L779I	ENSP00000264447:L1839I	L	+	1	2	ZNF638	71508022	0.942000	0.31987	0.997000	0.53966	0.592000	0.36648	-0.143000	0.10296	0.057000	0.16193	-0.137000	0.14449	CTA	-	NULL		0.338	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF638	protein_coding	OTTHUMT00000327431.1	C	NM_014497		71508022	+1	no_errors	NM_001014972	genbank	human	reviewed	54_36p	missense	SNP	0.981	A
SMAP1	60682	genome.wustl.edu	37	6	71464756	71464756	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr6:71464756C>G	ENST00000370455.3	+	3	574	c.326C>G	c.(325-327)cCa>cGa	p.P109R	SMAP1_ENST00000370452.3_Missense_Mutation_p.P109R|SMAP1_ENST00000422334.2_Missense_Mutation_p.P109R|SMAP1_ENST00000316999.5_Missense_Mutation_p.P109R	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	109	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						TTTCGAAGACCACAGACAGAT	0.279																																																0			6											131.0	144.0	140.0					6																	71464756		2203	4295	6498	71521477	SO:0001583	missense	60682			AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"""ADP-ribosylation factor GTPase activating proteins"""	19651	protein-coding gene	gene with protein product		611372	"""stromal membrane-associated protein 1"", ""stromal membrane-associated GTPase-activating protein 1"""			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.326C>G	6.37:g.71464756C>G	ENSP00000359484:p.Pro109Arg		71521477	Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Missense_Mutation	SNP	superfamily_Pyk2-associated protein beta ARF-GAP domain,HMMPfam_ArfGap,HMMSmart_SM00105	p.P109R	ENST00000370455.3	37	c.326	CCDS43478.1	6	.	.	.	.	.	.	.	.	.	.	C	23.9	4.465866	0.84425	.	.	ENSG00000112305	ENST00000370452;ENST00000316999;ENST00000370455;ENST00000370442;ENST00000422334	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.76919	0.4055	H	0.96365	3.81	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.84332	0.0522	10	0.87932	D	0	-10.1455	18.364	0.90384	0.0:1.0:0.0:0.0	.	109;109;109;109	A8K333;Q8IYB5-3;Q8IYB5-2;Q8IYB5	.;.;.;SMAP1_HUMAN	R	109;109;109;21;109	ENSP00000359481:P109R;ENSP00000313382:P109R;ENSP00000359484:P109R;ENSP00000398541:P109R	ENSP00000313382:P109R	P	+	2	0	SMAP1	71521477	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.134000	0.77268	2.638000	0.89438	0.644000	0.83932	CCA	-	superfamily_Pyk2-associated protein beta ARF-GAP domain,HMMPfam_ArfGap,HMMSmart_SM00105		0.279	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAP1	protein_coding	OTTHUMT00000041149.1	C	NM_001044305		71521477	+1	no_errors	NM_001044305	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
RHBDF2	79651	genome.wustl.edu	37	17	74475409	74475409	+	Intron	SNP	G	G	A	rs150316415	byFrequency	TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr17:74475409G>A	ENST00000313080.4	-	5	633				RHBDF2_ENST00000591885.1_Intron|RHBDF2_ENST00000389760.4_Intron|RHBDF2_ENST00000592378.1_Intron	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)						negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						CTACGCCTGTGCACCTGAGTG	0.672													G|||	108	0.0215655	0.0038	0.0274	5008	,	,		16366	0.001		0.0586	False		,,,				2504	0.0245															0			17						G	,	41,4297		1,39,2129	8.0	8.0	8.0		,	-0.6	0.0	17	dbSNP_134	8	342,8166		9,324,3921	no	intron,intron	RHBDF2	NM_001005498.3,NM_024599.5	,	10,363,6050	AA,AG,GG		4.0197,0.9451,2.9815	,	,	74475409	383,12463	2169	4254	6423	71987004	SO:0001627	intron_variant	79651			BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"""rhomboid, veinlet-like 6 (Drosophila)"", ""tylosis with oesophageal cancer"""	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.360-50C>T	17.37:g.74475409G>A			71987004	A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Missense_Mutation	SNP	HMMPfam_Rhomboid	p.H50Y	ENST00000313080.4	37	c.148	CCDS32743.1	17	63	0.028846153846153848	2	0.0040650406504065045	10	0.027624309392265192	1	0.0017482517482517483	50	0.06596306068601583	G	4.805	0.149714	0.09185	0.009451	0.040197	ENSG00000129667	ENST00000389762	.	.	.	2.98	-0.56	0.11789	.	.	.	.	.	T	0.01730	0.0055	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.16958	-1.0385	4	.	.	.	.	4.6148	0.12420	0.1455:0.4497:0.4048:0.0	.	.	.	.	Y	50	.	.	H	-	1	0	RHBDF2	71987004	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.119000	0.15626	-0.069000	0.12931	0.563000	0.77884	CAC	-	NULL		0.672	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	RHBDF2	protein_coding	OTTHUMT00000450134.1	G	NM_024599		71987004	-1	no_start_codon	ENST00000389762	ensembl	human	known	54_36p	missense	SNP	0.011	A
LOXL3	84695	genome.wustl.edu	37	2	74764017	74764017	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr2:74764017T>C	ENST00000264094.3	-	5	802	c.731A>G	c.(730-732)cAt>cGt	p.H244R	LOXL3_ENST00000409549.1_Missense_Mutation_p.H244R|LOXL3_ENST00000484369.1_5'Flank|LOXL3_ENST00000393937.2_Intron|LOXL3_ENST00000409249.1_Missense_Mutation_p.H244R|LOXL3_ENST00000409986.1_Intron	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	244	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CGCCACCCCATGCAGACCAAA	0.632																																																0			2											35.0	38.0	37.0					2																	74764017		2203	4300	6503	74617525	SO:0001583	missense	84695			AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.731A>G	2.37:g.74764017T>C	ENSP00000264094:p.His244Arg		74617525	D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	superfamily_Srcr_receptor,HMMSmart_SR,HMMPfam_SRCR,PatternScan_SRCR_1,HMMPfam_Lysyl_oxidase,PatternScan_LYSYL_OXIDASE	p.H244R	ENST00000264094.3	37	c.731	CCDS1953.1	2	.	.	.	.	.	.	.	.	.	.	T	15.51	2.856279	0.51376	.	.	ENSG00000115318	ENST00000264094;ENST00000409249;ENST00000409549;ENST00000413469	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	4.5	3.29	0.37713	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.056875	0.64402	D	0.000001	T	0.44603	0.1301	M	0.67953	2.075	0.80722	D	1	D;B	0.58620	0.983;0.0	P;B	0.53861	0.736;0.003	T	0.32771	-0.9894	10	0.45353	T	0.12	.	7.1389	0.25543	0.3628:0.0:0.0:0.6372	.	244;244	E7END4;P58215	.;LOXL3_HUMAN	R	244	ENSP00000264094:H244R;ENSP00000387103:H244R;ENSP00000386696:H244R;ENSP00000398260:H244R	ENSP00000264094:H244R	H	-	2	0	LOXL3	74617525	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	3.084000	0.50143	0.818000	0.34468	0.383000	0.25322	CAT	-	HMMSmart_SR,superfamily_Srcr_receptor,HMMPfam_SRCR		0.632	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL3	protein_coding	OTTHUMT00000252215.1	T	NM_032603		74617525	-1	no_errors	NM_032603	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
CFAP70	118491	genome.wustl.edu	37	10	75107962	75107962	+	Silent	SNP	C	C	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr10:75107962C>T	ENST00000310715.3	-	5	501	c.381G>A	c.(379-381)ttG>ttA	p.L127L	Y_RNA_ENST00000384742.1_RNA|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000493787.1_Intron|TTC18_ENST00000401621.2_Silent_p.L127L|TTC18_ENST00000340329.3_Silent_p.L127L|TTC18_ENST00000394865.1_Silent_p.L127L	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		127						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					GCACAGGGTGCAATGGAACTG	0.428																																																0			10											116.0	105.0	109.0					10																	75107962		2203	4300	6503	74777968	SO:0001819	synonymous_variant	118491																														ENST00000310715.3:c.381G>A	10.37:g.75107962C>T			74777968	C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Silent	SNP	HMMSmart_SM00028,superfamily_TPR-like,HMMPfam_TPR_1	p.L127	ENST00000310715.3	37	c.381	CCDS7324.3	10																																																																																			-	NULL		0.428	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC18	protein_coding		C			74777968	-1	no_errors	NM_145170	genbank	human	provisional	54_36p	silent	SNP	0.900	T
MYCBP2	23077	genome.wustl.edu	37	13	77625229	77625229	+	Silent	SNP	A	A	G			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr13:77625229A>G	ENST00000544440.2	-	82	13727	c.13710T>C	c.(13708-13710)ttT>ttC	p.F4570F	MYCBP2_ENST00000407578.2_Silent_p.F4608F|MYCBP2_ENST00000357337.6_Silent_p.F4570F					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CAAAACAGAAAAAAACAGCCA	0.383																																																0			13											94.0	94.0	94.0					13																	77625229		2203	4300	6503	76523230	SO:0001819	synonymous_variant	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.13710T>C	13.37:g.77625229A>G			76523230		Silent	SNP	superfamily_RCC1/BLIP-II,PatternScan_RCC1_2,HMMPfam_RCC1,HMMPfam_PHR,superfamily_E set domains,superfamily_Galactose-binding domain-like,superfamily_RING/U-box,HMMSmart_SM00184	p.F4570	ENST00000544440.2	37	c.13710		13	.	.	.	.	.	.	.	.	.	.	A	9.538	1.112713	0.20795	.	.	ENSG00000005810	ENST00000429715	.	.	.	5.56	3.16	0.36331	.	0.000000	0.85682	D	0.000000	T	0.64692	0.2621	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64097	-0.6487	6	0.72032	D	0.01	.	9.288	0.37769	0.8517:0.0:0.1483:0.0	.	.	.	.	L	991	.	ENSP00000413907:F991L	F	-	1	0	MYCBP2	76523230	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.019000	0.41001	0.420000	0.25954	0.533000	0.62120	TTT	-	NULL		0.383	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	protein_coding	OTTHUMT00000045326.1	A	NM_015057		76523230	-1	no_errors	NM_015057	genbank	human	validated	54_36p	silent	SNP	1.000	G
MYO6	4646	genome.wustl.edu	37	6	76572384	76572384	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr6:76572384G>T	ENST00000369977.3	+	16	1757	c.1618G>T	c.(1618-1620)Gat>Tat	p.D540Y	MYO6_ENST00000369985.4_Missense_Mutation_p.D540Y|RNA5SP209_ENST00000411237.1_RNA|MYO6_ENST00000369981.3_Missense_Mutation_p.D540Y|MYO6_ENST00000369975.1_Missense_Mutation_p.D540Y	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	540	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CCAGCCAAGTGATCAACACTT	0.383																																																0			6											130.0	110.0	117.0					6																	76572384		2203	4300	6503	76629104	SO:0001583	missense	4646			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.1618G>T	6.37:g.76572384G>T	ENSP00000358994:p.Asp540Tyr		76629104	A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMPfam_IQ	p.D540Y	ENST00000369977.3	37	c.1618	CCDS34487.1	6	.	.	.	.	.	.	.	.	.	.	G	12.15	1.851776	0.32699	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97	5.9	5.9	0.94986	.	0.084904	0.85682	D	0.000000	D	0.94696	0.8289	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.983;0.999	D	0.91299	0.5065	10	0.16420	T	0.52	.	20.2787	0.98501	0.0:0.0:1.0:0.0	.	540;540	Q9UM54-2;Q9UM54-1	.;.	Y	540	ENSP00000358998:D540Y;ENSP00000359002:D540Y;ENSP00000358994:D540Y;ENSP00000358992:D540Y	ENSP00000358992:D540Y	D	+	1	0	MYO6	76629104	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	9.476000	0.97823	2.798000	0.96311	0.650000	0.86243	GAT	-	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head		0.383	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO6	protein_coding	OTTHUMT00000041279.2	G	NM_004999		76629104	+1	no_errors	NM_004999	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
VDAC1	7416	genome.wustl.edu	37	X	80185163	80185163	+	IGR	SNP	G	G	A			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chrX:80185163G>A								RNU6-493P (28800 upstream) : RNU6-995P (6769 downstream)																							AAAGTGACGGGCAGTCTGGAA	0.423																																																0			X																																								80071819	SO:0001628	intergenic_variant	0																															X.37:g.80185163G>A			80071819		RNA	SNP	-	NULL		37	NULL		X																																																																																			-	-	0	0.423					LOC642585			G			80071819	+1	pseudogene	XR_038848	genbank	human	model	54_36p	rna	SNP	1.000	A
PAQR3	152559	genome.wustl.edu	37	4	79860319	79860319	+	Nonsense_Mutation	SNP	C	C	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr4:79860319C>T	ENST00000512733.1	-	1	273	c.60G>A	c.(58-60)tgG>tgA	p.W20*	PAQR3_ENST00000380645.4_Nonsense_Mutation_p.W20*|PAQR3_ENST00000295462.3_Nonsense_Mutation_p.W20*	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	20					negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein phosphorylation (GO:0001933)|protein localization to Golgi apparatus (GO:0034067)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						CCAGGACCGGCCAGTACTGGT	0.672																																																0			4											79.0	77.0	77.0					4																	79860319		2203	4300	6503	80079343	SO:0001587	stop_gained	152559			AK055774	CCDS34020.1	4q21	2008-02-05				ENSG00000163291			30130	protein-coding gene	gene with protein product		614577				16044242	Standard	XM_006714104		Approved		uc003hlp.1	Q6TCH7		ENST00000512733.1:c.60G>A	4.37:g.79860319C>T	ENSP00000421981:p.Trp20*		80079343	A8K5B7|B3KP59|Q6PIQ1|Q86X05|Q8NCP9	Nonsense_Mutation	SNP	HMMPfam_HlyIII	p.W20*	ENST00000512733.1	37	c.60	CCDS34020.1	4	.	.	.	.	.	.	.	.	.	.	C	33	5.289285	0.95517	.	.	ENSG00000163291	ENST00000295462;ENST00000512733;ENST00000380645	.	.	.	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.3521	16.9952	0.86365	0.0:1.0:0.0:0.0	.	.	.	.	X	20	.	ENSP00000295462:W20X	W	-	3	0	PAQR3	80079343	1.000000	0.71417	1.000000	0.80357	0.477000	0.33069	7.288000	0.78691	2.296000	0.77279	0.563000	0.77884	TGG	-	NULL		0.672	PAQR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAQR3	protein_coding	OTTHUMT00000363442.1	C	NM_177453		80079343	-1	no_errors	NM_001040202	genbank	human	validated	54_36p	nonsense	SNP	1.000	T
CCDC81	60494	genome.wustl.edu	37	11	86120325	86120325	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr11:86120325A>T	ENST00000445632.2	+	10	1408	c.1136A>T	c.(1135-1137)gAa>gTa	p.E379V	CCDC81_ENST00000278487.3_Missense_Mutation_p.E114V|CCDC81_ENST00000528728.1_Missense_Mutation_p.E114V|CCDC81_ENST00000354755.1_Missense_Mutation_p.E289V	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	379										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				GCTACTAGAGAACAGAATCAG	0.274																																																0			11											54.0	60.0	58.0					11																	86120325		2202	4299	6501	85797973	SO:0001583	missense	60494			AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.1136A>T	11.37:g.86120325A>T	ENSP00000415528:p.Glu379Val		85797973	A0AVL7|Q53FW3|Q9H5E5	Missense_Mutation	SNP	NULL	p.E289V	ENST00000445632.2	37	c.866	CCDS53691.1	11	.	.	.	.	.	.	.	.	.	.	A	16.78	3.217679	0.58560	.	.	ENSG00000149201	ENST00000354755;ENST00000278487;ENST00000445632;ENST00000528728	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.89	4.75	0.60458	.	0.226698	0.37483	N	0.002076	T	0.61211	0.2329	M	0.72118	2.19	0.35746	D	0.819082	D;D;D	0.89917	1.0;0.994;0.999	D;P;D	0.91635	0.999;0.835;0.988	T	0.69781	-0.5052	9	.	.	.	-24.9314	11.1836	0.48642	0.8461:0.1539:0.0:0.0	.	114;379;289	Q6ZN84-3;Q6ZN84;Q6ZN84-2	.;CCD81_HUMAN;.	V	289;114;379;114	ENSP00000346800:E289V;ENSP00000278487:E114V;ENSP00000415528:E379V;ENSP00000437165:E114V	.	E	+	2	0	CCDC81	85797973	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	3.491000	0.53252	1.035000	0.39972	0.459000	0.35465	GAA	-	NULL		0.274	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC81	protein_coding	OTTHUMT00000393756.1	A	NM_021827		85797973	+1	no_errors	NM_021827	genbank	human	provisional	54_36p	missense	SNP	0.989	T
TGFBR3	7049	genome.wustl.edu	37	1	92149315	92149315	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr1:92149315G>T	ENST00000525962.1	-	16	2598	c.2537C>A	c.(2536-2538)tCc>tAc	p.S846Y	TGFBR3_ENST00000370399.2_Missense_Mutation_p.S845Y|TGFBR3_ENST00000212355.4_Missense_Mutation_p.S846Y			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	846					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		gctgCTGCTGGAGCAAGGCGT	0.672																																																0			1											38.0	32.0	34.0					1																	92149315		2203	4299	6502	91921903	SO:0001583	missense	7049			L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.2537C>A	1.37:g.92149315G>T	ENSP00000436127:p.Ser846Tyr		91921903	A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	HMMPfam_Zona_pellucida,HMMSmart_ZP,PatternScan_ZP_1	p.S846Y	ENST00000525962.1	37	c.2537	CCDS30770.1	1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332100	0.81801	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.63417	-0.04;-0.03;-0.04;-0.03	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.75895	0.3912	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.997	T	0.77164	-0.2688	10	0.87932	D	0	-21.6989	19.8863	0.96913	0.0:0.0:1.0:0.0	.	846;845;846	A8K5N0;Q03167-2;Q03167	.;.;TGBR3_HUMAN	Y	846;845;846;845	ENSP00000212355:S846Y;ENSP00000359426:S845Y;ENSP00000436127:S846Y;ENSP00000432638:S845Y	ENSP00000212355:S846Y	S	-	2	0	TGFBR3	91921903	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.421000	0.97455	2.706000	0.92434	0.561000	0.74099	TCC	-	NULL		0.672	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TGFBR3	protein_coding	OTTHUMT00000382308.1	G	NM_003243		91921903	-1	no_errors	NM_003243	genbank	human	validated	54_36p	missense	SNP	1.000	T
TGFBR3	7049	genome.wustl.edu	37	1	92182216	92182216	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr1:92182216C>G	ENST00000525962.1	-	10	1677	c.1616G>C	c.(1615-1617)gGt>gCt	p.G539A	TGFBR3_ENST00000370399.2_Missense_Mutation_p.G538A|TGFBR3_ENST00000212355.4_Missense_Mutation_p.G539A			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	539	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		ATCTTCATAACCATCTGGCCA	0.458																																																0			1											288.0	298.0	295.0					1																	92182216		2203	4300	6503	91954804	SO:0001583	missense	7049			L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.1616G>C	1.37:g.92182216C>G	ENSP00000436127:p.Gly539Ala		91954804	A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	HMMPfam_Zona_pellucida,HMMSmart_ZP,PatternScan_ZP_1	p.G539A	ENST00000525962.1	37	c.1616	CCDS30770.1	1	.	.	.	.	.	.	.	.	.	.	C	6.942	0.543637	0.13250	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.33	4.31	0.51392	Zona pellucida sperm-binding protein (3);	0.252711	0.38605	N	0.001624	T	0.08313	0.0207	L	0.47716	1.5	0.43930	D	0.996583	B;B;B	0.19817	0.039;0.015;0.039	B;B;B	0.24269	0.052;0.015;0.052	T	0.25222	-1.0138	10	0.06236	T	0.91	-7.2479	3.4785	0.07594	0.0:0.6316:0.0:0.3683	.	539;538;539	A8K5N0;Q03167-2;Q03167	.;.;TGBR3_HUMAN	A	539;538;539;538	ENSP00000212355:G539A;ENSP00000359426:G538A;ENSP00000436127:G539A;ENSP00000432638:G538A	ENSP00000212355:G539A	G	-	2	0	TGFBR3	91954804	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.686000	0.54685	2.506000	0.84524	0.556000	0.70494	GGT	-	HMMPfam_Zona_pellucida,HMMSmart_ZP		0.458	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TGFBR3	protein_coding	OTTHUMT00000382308.1	C	NM_003243		91954804	-1	no_errors	NM_003243	genbank	human	validated	54_36p	missense	SNP	1.000	G
CKAP4	10970	genome.wustl.edu	37	12	106641288	106641288	+	Silent	SNP	G	G	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr12:106641288G>T	ENST00000378026.4	-	1	478	c.342C>A	c.(340-342)ctC>ctA	p.L114L	CKAP4_ENST00000552828.1_Intron|RP11-651L5.2_ENST00000552486.1_RNA	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	114						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CCACCAGGGCGAGGTAGAAGA	0.731																																																0			12											3.0	4.0	4.0					12																	106641288		1781	3661	5442	105165418	SO:0001819	synonymous_variant	10970			X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.342C>A	12.37:g.106641288G>T			105165418	Q504S5|Q53ES6	Silent	SNP	NULL	p.L114	ENST00000378026.4	37	c.342	CCDS9103.1	12																																																																																			-	NULL		0.731	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP4	protein_coding	OTTHUMT00000407196.1	G			105165418	-1	no_errors	NM_006825	genbank	human	validated	54_36p	silent	SNP	0.991	T
DUS4L	11062	genome.wustl.edu	37	7	107217967	107217967	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr7:107217967G>C	ENST00000265720.3	+	8	1278	c.916G>C	c.(916-918)Gca>Cca	p.A306P	RP4-593H12.1_ENST00000610269.1_RNA|BCAP29_ENST00000379117.2_5'Flank|DUS4L_ENST00000402620.1_Missense_Mutation_p.A185P|BCAP29_ENST00000445771.2_5'Flank|BCAP29_ENST00000465919.1_5'Flank|BCAP29_ENST00000005259.4_5'Flank	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like (S. cerevisiae)	306							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						AAGCACATCAGCAATCATAGA	0.353																																																0			7											124.0	128.0	127.0					7																	107217967		2203	4300	6503	107005203	SO:0001583	missense	11062			U62767	CCDS5745.1	7q22-q31	2007-12-04			ENSG00000105865	ENSG00000105865			21517	protein-coding gene	gene with protein product	"""protein similar to E.coli yhdg and R. capsulatus nifR3"""						Standard	NM_181581		Approved	PP35, DUS4	uc031syv.1	O95620	OTTHUMG00000154763	ENST00000265720.3:c.916G>C	7.37:g.107217967G>C	ENSP00000265720:p.Ala306Pro		107005203	B4DLX0|Q2NKK1	Missense_Mutation	SNP	superfamily_FMN-linked oxidoreductases,HMMPfam_Dus,PatternScan_UPF0034	p.A306P	ENST00000265720.3	37	c.916	CCDS5745.1	7	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962785	0.92791	.	.	ENSG00000105865	ENST00000265720;ENST00000402620	T;T	0.24151	1.87;1.87	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.54382	0.1855	M	0.77406	2.37	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.71656	0.974;0.974	T	0.49041	-0.8980	10	0.42905	T	0.14	.	20.1421	0.98061	0.0:0.0:1.0:0.0	.	306;306	A4D0R5;O95620	.;DUS4L_HUMAN	P	306;185	ENSP00000265720:A306P;ENSP00000385274:A185P	ENSP00000265720:A306P	A	+	1	0	DUS4L	107005203	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	7.393000	0.79851	2.836000	0.97738	0.655000	0.94253	GCA	-	superfamily_FMN-linked oxidoreductases,HMMPfam_Dus		0.353	DUS4L-007	KNOWN	basic|appris_principal|CCDS	protein_coding	DUS4L	protein_coding	OTTHUMT00000336967.2	G	NM_181581		107005203	+1	no_errors	NM_181581	genbank	human	validated	54_36p	missense	SNP	1.000	C
PRPF38B	55119	genome.wustl.edu	37	1	109242315	109242315	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr1:109242315G>C	ENST00000370025.4	+	6	1583	c.1314G>C	c.(1312-1314)agG>agC	p.R438S	PRPF38B_ENST00000370021.1_Missense_Mutation_p.R327S	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	438	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		acagaagtaggagtcgaagta	0.358																																																0			1											68.0	66.0	67.0					1																	109242315		2202	4299	6501	109043838	SO:0001583	missense	55119			AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"""				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.1314G>C	1.37:g.109242315G>C	ENSP00000359042:p.Arg438Ser		109043838	Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Missense_Mutation	SNP	HMMPfam_PRP38	p.R438S	ENST00000370025.4	37	c.1314	CCDS788.1	1	.	.	.	.	.	.	.	.	.	.	G	6.988	0.552334	0.13374	.	.	ENSG00000134186	ENST00000370025;ENST00000370021	T;T	0.29142	1.58;2.65	5.56	2.32	0.28847	.	0.086500	0.49916	D	0.000126	T	0.05914	0.0154	N	0.14661	0.345	0.30130	N	0.804848	B	0.12013	0.005	B	0.08055	0.003	T	0.34601	-0.9822	10	0.27082	T	0.32	.	9.2278	0.37418	0.3514:0.0:0.6486:0.0	.	438	Q5VTL8	PR38B_HUMAN	S	438;327	ENSP00000359042:R438S;ENSP00000359038:R327S	ENSP00000359038:R327S	R	+	3	2	PRPF38B	109043838	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	0.625000	0.24477	0.734000	0.32515	-0.339000	0.08088	AGG	-	NULL		0.358	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF38B	protein_coding	OTTHUMT00000030231.1	G	NM_018061		109043838	+1	no_errors	NM_018061	genbank	human	validated	54_36p	missense	SNP	1.000	C
ADPRHL1	113622	genome.wustl.edu	37	13	114107615	114107615	+	Silent	SNP	G	G	A	rs148683938		TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr13:114107615G>A	ENST00000375418.3	-	1	224	c.138C>T	c.(136-138)ctC>ctT	p.L46L		NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	46					protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)	p.L46L(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			GCGAGAGTACGAGGTGGTCCA	0.612																																																1	Substitution - coding silent(1)	lung(1)	13						G		1,4405	2.1+/-5.4	0,1,2202	135.0	121.0	126.0		138	-11.0	0.0	13	dbSNP_134	126	0,8600		0,0,4300	no	coding-synonymous	ADPRHL1	NM_138430.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		46/355	114107615	1,13005	2203	4300	6503	113155616	SO:0001819	synonymous_variant	113622			AJ313429	CCDS9535.1, CCDS9536.1	13q34	2003-06-19			ENSG00000153531	ENSG00000153531			21303	protein-coding gene	gene with protein product		610620				12070318	Standard	NM_138430		Approved	ARH2	uc001vtq.1	Q8NDY3	OTTHUMG00000017386	ENST00000375418.3:c.138C>T	13.37:g.114107615G>A			113155616	Q5JUG2|Q96GD1	Silent	SNP	superfamily_ADP-ribosylglycohydrolase,HMMPfam_ADP_ribosyl_GH	p.L46	ENST00000375418.3	37	c.138	CCDS9535.1	13																																																																																			-	superfamily_ADP-ribosylglycohydrolase,HMMPfam_ADP_ribosyl_GH		0.612	ADPRHL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADPRHL1	protein_coding	OTTHUMT00000045915.2	G	NM_138430		113155616	-1	no_errors	NM_138430	genbank	human	validated	54_36p	silent	SNP	0.964	A
SFXN4	119559	genome.wustl.edu	37	10	120920435	120920435	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr10:120920435C>A	ENST00000355697.2	-	5	345	c.326G>T	c.(325-327)cGa>cTa	p.R109L	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Missense_Mutation_p.R100L	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	109					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		ACCTGCAGGTCGAAAAAGCTT	0.473																																																0			10											142.0	140.0	140.0					10																	120920435		2203	4300	6503	120910425	SO:0001583	missense	119559				CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605		"""Sideroflexins"""	16088	protein-coding gene	gene with protein product		615564				14756423	Standard	NM_213649		Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.326G>T	10.37:g.120920435C>A	ENSP00000347924:p.Arg109Leu		120910425	Q6WSU4|Q86TD9	Missense_Mutation	SNP	HMMPfam_Mtc	p.R109L	ENST00000355697.2	37	c.326	CCDS7610.1	10	.	.	.	.	.	.	.	.	.	.	C	16.07	3.019062	0.54576	.	.	ENSG00000183605	ENST00000355697;ENST00000330036	T;T	0.57273	0.41;0.41	5.09	5.09	0.68999	.	0.088520	0.45606	D	0.000360	T	0.71358	0.3330	M	0.70275	2.135	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.74290	-0.3713	10	0.87932	D	0	-13.3606	15.3651	0.74516	0.0:1.0:0.0:0.0	.	109	Q6P4A7	SFXN4_HUMAN	L	109;100	ENSP00000347924:R109L;ENSP00000333200:R100L	ENSP00000333200:R100L	R	-	2	0	SFXN4	120910425	0.997000	0.39634	0.998000	0.56505	0.842000	0.47809	3.371000	0.52379	2.646000	0.89796	0.655000	0.94253	CGA	-	HMMPfam_Mtc		0.473	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFXN4	protein_coding	OTTHUMT00000050642.3	C	XM_058406		120910425	-1	no_errors	NM_213649	genbank	human	validated	54_36p	missense	SNP	0.960	A
GOLGB1	2804	genome.wustl.edu	37	3	121412987	121412987	+	Missense_Mutation	SNP	A	A	C			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr3:121412987A>C	ENST00000340645.5	-	13	6493	c.6368T>G	c.(6367-6369)cTt>cGt	p.L2123R	GOLGB1_ENST00000393667.3_Missense_Mutation_p.L2128R	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2123					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCTTCGCTCAAGATCTTCATC	0.413																																																0			3											203.0	208.0	207.0					3																	121412987		2203	4300	6503	122895677	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.6368T>G	3.37:g.121412987A>C	ENSP00000341848:p.Leu2123Arg		122895677	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Spectrin repeat,superfamily_Prefoldin,HMMSmart_SM00340	p.L2123R	ENST00000340645.5	37	c.6368	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	A	11.90	1.778001	0.31502	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.17213	2.29;2.29	5.75	5.75	0.90469	.	0.445839	0.19362	N	0.116112	T	0.34135	0.0887	M	0.67953	2.075	0.39361	D	0.965928	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.77004	0.989;0.982;0.982;0.984	T	0.17776	-1.0358	10	0.16420	T	0.52	.	8.5395	0.33384	0.915:0.0:0.085:0.0	.	2048;2128;2128;2123	F1T0J2;E7EP74;B2ZZ91;Q14789	.;.;.;GOGB1_HUMAN	R	2123;2128	ENSP00000341848:L2123R;ENSP00000377275:L2128R	ENSP00000341848:L2123R	L	-	2	0	GOLGB1	122895677	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	4.125000	0.57931	2.194000	0.70268	0.533000	0.62120	CTT	-	NULL		0.413	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	protein_coding	OTTHUMT00000355159.1	A	NM_004487		122895677	-1	no_errors	NM_004487	genbank	human	validated	54_36p	missense	SNP	0.987	C
TXNRD3NB	645840	genome.wustl.edu	37	3	126291304	126291304	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr3:126291304C>A	ENST00000404489.2	-	1	175	c.83G>T	c.(82-84)cGa>cTa	p.R28L	TXNRD3NB_ENST00000383572.2_Missense_Mutation_p.R28L			Q6F5E7	TR3N_HUMAN	thioredoxin reductase 3 neighbor	28										endometrium(1)|large_intestine(2)|skin(2)	5						CACACTCAATCGTGCCCTCAC	0.602																																																0			3											48.0	47.0	48.0					3																	126291304		2203	4300	6503	127773994	SO:0001583	missense	645840			BC130546	CCDS33846.1	3q21.3	2011-04-13	2011-04-13	2011-04-13	ENSG00000206483	ENSG00000206483			33870	protein-coding gene	gene with protein product	"""thioredoxin reductase 3 new transcript 1"""		"""thioredoxin reductase 3 intronic transcript 1"""	TXNRD3IT1		15674732	Standard	NM_001039783		Approved	TR2IT1, TXNRD3NT1	uc003ejc.3	Q6F5E7	OTTHUMG00000162732	ENST00000404489.2:c.83G>T	3.37:g.126291304C>A	ENSP00000384071:p.Arg28Leu		127773994		Missense_Mutation	SNP	PatternScan_TUBULIN_B_AUTOREG	p.R28L	ENST00000404489.2	37	c.83	CCDS33846.1	3	.	.	.	.	.	.	.	.	.	.	C	3.430	-0.116379	0.06881	.	.	ENSG00000206483	ENST00000383572;ENST00000404489	.	.	.	0.661	0.661	0.17874	.	.	.	.	.	T	0.12390	0.0301	N	0.08118	0	0.09310	N	1	P	0.40032	0.699	B	0.30401	0.115	T	0.13899	-1.0492	7	0.87932	D	0	.	.	.	.	.	28	Q6F5E7	TR3N_HUMAN	L	28	.	ENSP00000373066:R28L	R	-	2	0	TXNRD3NB	127773994	0.001000	0.12720	0.005000	0.12908	0.003000	0.03518	-0.080000	0.11339	0.639000	0.30564	0.467000	0.42956	CGA	-	NULL		0.602	TXNRD3NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TR2IT1	protein_coding	OTTHUMT00000370233.2	C	NM_001039783		127773994	-1	no_errors	NM_001039783	genbank	human	predicted	54_36p	missense	SNP	0.000	A
OPCML	4978	genome.wustl.edu	37	11	132399049	132399049	+	Silent	SNP	G	G	A			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr11:132399049G>A	ENST00000331898.7	-	3	1010	c.432C>T	c.(430-432)gaC>gaT	p.D144D	OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Silent_p.D144D|OPCML_ENST00000524381.1_Silent_p.D137D|OPCML_ENST00000374778.4_Silent_p.D103D	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	144	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)	p.D144E(1)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TCACAGTGATGTCTGAGGAGA	0.453																																																1	Substitution - Missense(1)	large_intestine(1)	11											113.0	89.0	97.0					11																	132399049		2201	4297	6498	131904259	SO:0001819	synonymous_variant	4978			BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.432C>T	11.37:g.132399049G>A			131904259	B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Silent	SNP	HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_I-set,HMMPfam_ig	p.D144	ENST00000331898.7	37	c.432	CCDS8492.1	11																																																																																			-	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409		0.453	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPCML	protein_coding	OTTHUMT00000374689.3	G	NM_001012393		131904259	-1	no_errors	NM_002545	genbank	human	reviewed	54_36p	silent	SNP	0.983	A
B3GAT1	27087	genome.wustl.edu	37	11	134252867	134252867	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr11:134252867C>T	ENST00000524765.1	-	4	5199	c.655G>A	c.(655-657)Gtc>Atc	p.V219I	B3GAT1_ENST00000312527.4_Missense_Mutation_p.V219I|B3GAT1_ENST00000537389.1_Missense_Mutation_p.V232I|B3GAT1_ENST00000392580.1_Missense_Mutation_p.V219I|B3GAT1_ENST00000531510.1_5'Flank			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	219					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		ACGAAGGCGACGGGCCACACG	0.697																																																0			11											26.0	20.0	22.0					11																	134252867		2201	4294	6495	133758077	SO:0001583	missense	27087			AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"""CD molecules"", ""Beta-1,3-glucuronyltransferases"""	921	protein-coding gene	gene with protein product	"""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1"", ""glucuronosyltransferase P"""	151290	"""CD57 antigen"""	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.655G>A	11.37:g.134252867C>T	ENSP00000433847:p.Val219Ile		133758077	Q96FS7	Missense_Mutation	SNP	superfamily_SSF53448,HMMPfam_Glyco_transf_43	p.V219I	ENST00000524765.1	37	c.655	CCDS8500.1	11	.	.	.	.	.	.	.	.	.	.	C	29.0	4.971262	0.92919	.	.	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.83403	0.5247	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.87360	0.2343	10	0.66056	D	0.02	-29.2798	19.1626	0.93539	0.0:1.0:0.0:0.0	.	232;219	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	I	219;219;219;232	ENSP00000376359:V219I;ENSP00000307875:V219I;ENSP00000433847:V219I;ENSP00000445983:V232I	ENSP00000307875:V219I	V	-	1	0	B3GAT1	133758077	1.000000	0.71417	0.602000	0.28890	0.143000	0.21401	7.646000	0.83445	2.768000	0.95171	0.561000	0.74099	GTC	-	superfamily_SSF53448,HMMPfam_Glyco_transf_43		0.697	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	B3GAT1	protein_coding	OTTHUMT00000393639.1	C	NM_018644		133758077	-1	no_errors	NM_018644	genbank	human	reviewed	54_36p	missense	SNP	0.800	T
HBS1L	10767	genome.wustl.edu	37	6	135287503	135287503	+	Silent	SNP	G	G	A	rs567806855		TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr6:135287503G>A	ENST00000367837.5	-	17	2213	c.2007C>T	c.(2005-2007)taC>taT	p.Y669Y	HBS1L_ENST00000367826.2_Silent_p.Y627Y|HBS1L_ENST00000445176.2_Silent_p.Y393Y|HBS1L_ENST00000527578.1_Silent_p.Y505Y|HBS1L_ENST00000415177.2_Silent_p.Y604Y|HBS1L_ENST00000367824.4_Silent_p.Y505Y	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	669					signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)	p.Y669Y(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		TAGAACCACCGTAACGTAGCA	0.378																																																1	Substitution - coding silent(1)	lung(1)	6											151.0	140.0	144.0					6																	135287503		2203	4300	6503	135329196	SO:0001819	synonymous_variant	10767			U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"""eRF3 family member"""	612450	"""HBS1 (S. cerevisiae)-like"", ""HBS1-like (S. cerevisiae)"""			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.2007C>T	6.37:g.135287503G>A			135329196	B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Silent	SNP	HMMPfam_DUF1916,superfamily_HBS1-like domain,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GTP_EFTU,superfamily_Translation proteins,HMMPfam_GTP_EFTU_D2,HMMPfam_GTP_EFTU_D3,superfamily_EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain	p.Y669	ENST00000367837.5	37	c.2007	CCDS5173.1	6																																																																																			-	HMMPfam_GTP_EFTU_D3,superfamily_EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain		0.378	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBS1L	protein_coding	OTTHUMT00000042339.2	G			135329196	-1	no_errors	NM_006620	genbank	human	validated	54_36p	silent	SNP	0.999	A
LOC349160	349160	genome.wustl.edu	37	7	136399314	136399314	+	RNA	SNP	C	C	G			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr7:136399314C>G	ENST00000586239.1	-	0	466																											CAGGTAAAACCTTGTTAGCCA	0.473																																																0			7																																								136049854			392100																															7.37:g.136399314C>G			136049854		RNA	SNP	-	NULL	ENST00000586239.1	37	NULL		7																																																																																			-	-		0.473	hsa-mir-490.1-003	KNOWN	basic	antisense	LOC392100	antisense	OTTHUMT00000447748.1	C			136049854	+1	pseudogene	XR_017485	genbank	human	model	54_36p	rna	SNP	0.996	G
SCRIB	23513	genome.wustl.edu	37	8	144895096	144895096	+	Silent	SNP	G	G	A			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr8:144895096G>A	ENST00000320476.3	-	8	684	c.678C>T	c.(676-678)gaC>gaT	p.D226D	MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000356994.2_Silent_p.D226D|SCRIB_ENST00000377533.3_Silent_p.D145D	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	226	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TTTCCGACACGTCCAGGCACA	0.692																																					Pancreas(51;966 1133 10533 14576 29674)											0			8											33.0	33.0	33.0					8																	144895096		2200	4298	6498	144967084	SO:0001819	synonymous_variant	23513			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.678C>T	8.37:g.144895096G>A			144967084	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	superfamily_RNI-like,HMMSmart_SM00364,HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228	p.D226	ENST00000320476.3	37	c.678	CCDS6411.1	8																																																																																			-	superfamily_RNI-like,HMMSmart_SM00364,HMMSmart_SM00369,HMMPfam_LRR_1		0.692	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCRIB	protein_coding	OTTHUMT00000382215.1	G	NM_015356		144967084	-1	no_errors	NM_182706	genbank	human	validated	54_36p	silent	SNP	0.991	A
MPP1	4354	genome.wustl.edu	37	X	154020058	154020058	+	Missense_Mutation	SNP	A	A	C			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chrX:154020058A>C	ENST00000369534.3	-	3	458	c.311T>G	c.(310-312)aTg>aGg	p.M104R	MPP1_ENST00000462825.1_Intron|MPP1_ENST00000413259.3_Missense_Mutation_p.M74R|MPP1_ENST00000393531.1_Missense_Mutation_p.M104R	NM_001166460.1|NM_001166461.1|NM_002436.3	NP_001159932.1|NP_001159933.1|NP_002427.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	104	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				nucleotide phosphorylation (GO:0046939)|regulation of neutrophil chemotaxis (GO:0090022)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCTATGGATCATGCCACCATG	0.448																																																0			X											124.0	98.0	107.0					X																	154020058		2203	4300	6503	153673252	SO:0001583	missense	4354				CCDS14762.1, CCDS55544.1, CCDS55545.1	Xq28	2008-03-04	2002-08-29		ENSG00000130830	ENSG00000130830			7219	protein-coding gene	gene with protein product		305360	"""membrane protein, palmitoylated 1 (55kD)"""	DXS552E		1713685	Standard	NM_002436		Approved	PEMP	uc004fmp.2	Q00013	OTTHUMG00000024244	ENST00000369534.3:c.311T>G	X.37:g.154020058A>C	ENSP00000358547:p.Met104Arg		153673252	B4DZV5|G3XAI1|Q2TSB6|Q5J7V5	Missense_Mutation	SNP	superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00072,PatternScan_GUANYLATE_KINASE_1,HMMPfam_Guanylate_kin	p.M104R	ENST00000369534.3	37	c.311	CCDS14762.1	X	.	.	.	.	.	.	.	.	.	.	A	18.96	3.733975	0.69189	.	.	ENSG00000130830	ENST00000369534;ENST00000413259;ENST00000393531;ENST00000393529;ENST00000369531	T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66	5.5	5.5	0.81552	PDZ/DHR/GLGF (4);	0.115656	0.85682	D	0.000000	T	0.56441	0.1985	M	0.80508	2.5	0.80722	D	1	P;P;D;P	0.56035	0.784;0.956;0.974;0.956	P;D;D;D	0.67725	0.472;0.936;0.936;0.953	T	0.62383	-0.6866	10	0.87932	D	0	.	13.4014	0.60885	1.0:0.0:0.0:0.0	.	87;74;104;104	B4E325;B4DZV5;G3XAI1;Q00013	.;.;.;EM55_HUMAN	R	104;74;104;58;87	ENSP00000358547:M104R;ENSP00000400155:M74R;ENSP00000377165:M104R;ENSP00000377163:M58R;ENSP00000358544:M87R	ENSP00000358544:M87R	M	-	2	0	MPP1	153673252	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	8.862000	0.92283	1.843000	0.53566	0.437000	0.28790	ATG	-	superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228		0.448	MPP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP1	protein_coding	OTTHUMT00000061191.3	A	NM_002436		153673252	-1	no_errors	NM_002436	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
RBM46	166863	genome.wustl.edu	37	4	155720135	155720135	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr4:155720135C>G	ENST00000281722.3	+	4	1056	c.821C>G	c.(820-822)gCt>gGt	p.A274G	RBM46_ENST00000514866.1_Missense_Mutation_p.A274G|RBM46_ENST00000510397.1_Missense_Mutation_p.A274G	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	274	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				AGAGATTATGCTTTTGTTCAC	0.358																																																0			4											105.0	94.0	98.0					4																	155720135		2203	4300	6503	155939585	SO:0001583	missense	166863			BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"""RNA binding motif (RRM) containing"""	28401	protein-coding gene	gene with protein product	"""cancer/testis antigen 68"""					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.821C>G	4.37:g.155720135C>G	ENSP00000281722:p.Ala274Gly		155939585	B3KWU8|B4DZ27	Missense_Mutation	SNP	superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1	p.A274G	ENST00000281722.3	37	c.821	CCDS3790.1	4	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048487	0.75846	.	.	ENSG00000151962	ENST00000514866;ENST00000281722;ENST00000510397	T;T;T	0.76839	-1.05;-1.05;-1.05	6.17	6.17	0.99709	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.81451	0.4825	L	0.31578	0.945	0.80722	D	1	P;P;P	0.50819	0.551;0.939;0.715	B;P;P	0.59546	0.387;0.859;0.601	T	0.77222	-0.2667	10	0.31617	T	0.26	-20.2151	20.8794	0.99867	0.0:1.0:0.0:0.0	.	274;274;274	B4DZ27;B3KWU8;Q8TBY0	.;.;RBM46_HUMAN	G	274	ENSP00000424500:A274G;ENSP00000281722:A274G;ENSP00000422813:A274G	ENSP00000281722:A274G	A	+	2	0	RBM46	155939585	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.350000	0.59392	2.941000	0.99782	0.655000	0.94253	GCT	-	superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1		0.358	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM46	protein_coding	OTTHUMT00000365259.1	C	NM_144979		155939585	+1	no_errors	NM_144979	genbank	human	validated	54_36p	missense	SNP	1.000	G
HK3	3101	genome.wustl.edu	37	5	176316712	176316712	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr5:176316712C>T	ENST00000292432.5	-	7	755	c.664G>A	c.(664-666)Gac>Aac	p.D222N		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	222	Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCACTGTGTCGTTCACCACA	0.587																																																0			5											184.0	150.0	161.0					5																	176316712		2203	4300	6503	176249318	SO:0001583	missense	3101				CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.664G>A	5.37:g.176316712C>T	ENSP00000292432:p.Asp222Asn		176249318	Q8N1E7	Missense_Mutation	SNP	superfamily_SSF53067,HMMPfam_Hexokinase_1,HMMPfam_Hexokinase_2,PatternScan_HEXOKINASES	p.D222N	ENST00000292432.5	37	c.664	CCDS4407.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.147539	0.94603	.	.	ENSG00000160883	ENST00000292432	D	0.99695	-6.43	5.56	5.56	0.83823	Hexokinase, N-terminal (1);	0.000000	0.64402	D	0.000018	D	0.99684	0.9881	M	0.87758	2.905	0.40623	D	0.981785	D	0.89917	1.0	D	0.97110	1.0	D	0.97654	1.0156	10	0.87932	D	0	-30.0589	13.4652	0.61249	0.0:0.9238:0.0:0.0762	.	222	P52790	HXK3_HUMAN	N	222	ENSP00000292432:D222N	ENSP00000292432:D222N	D	-	1	0	HK3	176249318	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.490000	0.60319	2.624000	0.88883	0.462000	0.41574	GAC	-	superfamily_SSF53067,HMMPfam_Hexokinase_1		0.587	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK3	protein_coding	OTTHUMT00000253428.1	C			176249318	-1	no_errors	NM_002115	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
EIF4G1	1981	genome.wustl.edu	37	3	184039626	184039626	+	Silent	SNP	C	C	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr3:184039626C>T	ENST00000346169.2	+	10	1525	c.1254C>T	c.(1252-1254)gtC>gtT	p.V418V	EIF4G1_ENST00000427845.1_Silent_p.V331V|EIF4G1_ENST00000424196.1_Silent_p.V425V|EIF4G1_ENST00000352767.3_Silent_p.V425V|EIF4G1_ENST00000342981.4_Silent_p.V418V|EIF4G1_ENST00000414031.1_Silent_p.V378V|EIF4G1_ENST00000319274.6_Silent_p.V418V|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000411531.1_Silent_p.V378V|EIF4G1_ENST00000392537.2_Silent_p.V331V|EIF4G1_ENST00000435046.2_Silent_p.V222V|EIF4G1_ENST00000350481.5_Silent_p.V254V|EIF4G1_ENST00000434061.2_Silent_p.V222V|EIF4G1_ENST00000441154.1_Silent_p.V254V|EIF4G1_ENST00000382330.3_Silent_p.V425V	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	418					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TAAGCCCAGTCAGTGAGCCAG	0.622																																																0			3											151.0	159.0	156.0					3																	184039626		2203	4300	6503	185522320	SO:0001819	synonymous_variant	1981			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1254C>T	3.37:g.184039626C>T			185522320	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	superfamily_ARM repeat,HMMPfam_MIF4G,HMMSmart_SM00543,HMMPfam_MA3,HMMSmart_SM00544,HMMSmart_SM00515,HMMPfam_W2	p.V418	ENST00000346169.2	37	c.1254	CCDS3259.1	3																																																																																			-	NULL		0.622	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	EIF4G1	protein_coding	OTTHUMT00000345733.1	C	NM_182917		185522320	+1	no_errors	NM_182917	genbank	human	reviewed	54_36p	silent	SNP	0.999	T
COL3A1	1281	genome.wustl.edu	37	2	189863012	189863012	+	Silent	SNP	T	T	C			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr2:189863012T>C	ENST00000304636.3	+	28	2114	c.1944T>C	c.(1942-1944)ggT>ggC	p.G648G	COL3A1_ENST00000317840.5_Silent_p.G648G	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	648	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GTACAGGTGGTCCTCCAGGAG	0.363																																																0			2											63.0	66.0	65.0					2																	189863012		2203	4300	6503	189571257	SO:0001819	synonymous_variant	1281			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.1944T>C	2.37:g.189863012T>C			189571257	D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Silent	SNP	HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_Collagen,HMMSmart_SM00038,HMMPfam_COLFI	p.G648	ENST00000304636.3	37	c.1944	CCDS2297.1	2																																																																																			-	HMMPfam_Collagen		0.363	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL3A1	protein_coding	OTTHUMT00000255899.3	T	NM_000090		189571257	+1	no_errors	NM_000090	genbank	human	reviewed	54_36p	silent	SNP	1.000	C
TRAF5	7188	genome.wustl.edu	37	1	211545789	211545789	+	Silent	SNP	G	G	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr1:211545789G>T	ENST00000261464.5	+	11	1473	c.1419G>T	c.(1417-1419)ctG>ctT	p.L473L	TRAF5_ENST00000427925.2_Silent_p.L367L|TRAF5_ENST00000336184.2_Silent_p.L473L|TRAF5_ENST00000367004.3_Silent_p.L473L	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	473	Interaction with EIF2AK2/PKR.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TTGACTCACTGTTGCAGTGGC	0.532																																																0			1											107.0	96.0	100.0					1																	211545789		2203	4300	6503	209612412	SO:0001819	synonymous_variant	7188			AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"""RING-type (C3HC4) zinc fingers"""	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.1419G>T	1.37:g.211545789G>T			209612412	B4DIS9|B4E0A2|Q6FHY1	Silent	SNP	superfamily_RING/U-box,HMMPfam_zf-C3HC4,HMMSmart_SM00184,PatternScan_ZF_RING_1,superfamily_TRAF domain-like,HMMPfam_zf-TRAF,HMMSmart_SM00061,HMMPfam_MATH	p.L473	ENST00000261464.5	37	c.1419	CCDS1497.1	1																																																																																			-	superfamily_TRAF domain-like,HMMSmart_SM00061,HMMPfam_MATH		0.532	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF5	protein_coding	OTTHUMT00000089825.1	G	NM_004619		209612412	+1	no_errors	NM_001033910	genbank	human	reviewed	54_36p	silent	SNP	0.999	T
MAP2	4133	genome.wustl.edu	37	2	210517907	210517907	+	Missense_Mutation	SNP	C	C	T	rs138782038		TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr2:210517907C>T	ENST00000360351.4	+	4	519	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	MAP2_ENST00000199940.6_Missense_Mutation_p.R5W|MAP2_ENST00000392194.1_Missense_Mutation_p.R5W|MAP2_ENST00000361559.4_Missense_Mutation_p.R5W|MAP2_ENST00000447185.1_Missense_Mutation_p.R5W	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	5					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)	p.R5W(1)		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)	GGCAGATGAACGGAAAGATGA	0.448																																					Pancreas(27;423 979 28787 29963)											1	Substitution - Missense(1)	large_intestine(1)	2						C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	68.0	52.0	58.0		13,13,13,13	4.7	1.0	2	dbSNP_134	58	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	MAP2	NM_001039538.1,NM_002374.3,NM_031845.2,NM_031847.2	101,101,101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	5/560,5/1828,5/472,5/503	210517907	1,13005	2203	4300	6503	210226152	SO:0001583	missense	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.13C>T	2.37:g.210517907C>T	ENSP00000353508:p.Arg5Trp		210226152	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	HMMPfam_RII_binding_1,HMMPfam_MAP2_projctn,HMMPfam_Tubulin-binding,PatternScan_TAU_MAP	p.R5W	ENST00000360351.4	37	c.13	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522268	0.64747	0.0	1.16E-4	ENSG00000078018	ENST00000199940;ENST00000392193;ENST00000360351;ENST00000361559;ENST00000445941;ENST00000392194;ENST00000447185	T;T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01;2.01	5.57	4.68	0.58851	.	0.000000	0.53938	D	0.000058	T	0.32526	0.0832	L	0.27053	0.805	0.44555	D	0.997519	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999;1.0	D;D;D;D;P;D	0.83275	0.927;0.996;0.976;0.973;0.847;0.965	T	0.09465	-1.0673	10	0.72032	D	0.01	-7.9818	12.487	0.55879	0.42:0.58:0.0:0.0	.	5;5;6;5;5;5	P11137-3;P11137-2;Q59FX9;E7EV03;P11137;Q8IUX2	.;.;.;.;MAP2_HUMAN;.	W	5	ENSP00000199940:R5W;ENSP00000376031:R5W;ENSP00000353508:R5W;ENSP00000355290:R5W;ENSP00000409969:R5W;ENSP00000376032:R5W;ENSP00000392164:R5W	ENSP00000199940:R5W	R	+	1	2	MAP2	210226152	0.997000	0.39634	1.000000	0.80357	0.943000	0.58893	2.078000	0.41567	1.328000	0.45358	0.655000	0.94253	CGG	-	NULL		0.448	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	protein_coding	OTTHUMT00000256521.2	C	NM_001039538		210226152	+1	no_errors	NM_002374	genbank	human	reviewed	54_36p	missense	SNP	0.964	T
LGALS8	3964	genome.wustl.edu	37	1	236708109	236708109	+	Missense_Mutation	SNP	G	G	A	rs369820574		TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr1:236708109G>A	ENST00000366584.4	+	9	1264	c.698G>A	c.(697-699)cGc>cAc	p.R233H	LGALS8_ENST00000525042.1_Missense_Mutation_p.R216H|LGALS8_ENST00000526634.1_Missense_Mutation_p.R233H|LGALS8_ENST00000352231.2_Missense_Mutation_p.R275H|LGALS8_ENST00000526589.1_Missense_Mutation_p.R275H|LGALS8_ENST00000450372.2_Missense_Mutation_p.R275H|LGALS8_ENST00000416919.2_Missense_Mutation_p.R216H|LGALS8_ENST00000323938.6_Missense_Mutation_p.R206H|RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000341872.6_Missense_Mutation_p.R233H|LGALS8_ENST00000527974.1_Missense_Mutation_p.R275H	NM_201544.2	NP_963838.1	O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	233	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				plasma cell differentiation (GO:0002317)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTGAACCCACGCCTGAATATT	0.353																																																0			1						G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	91.0	95.0	93.0		824,698,698,824	4.4	1.0	1		93	0,8600		0,0,4300	no	missense,missense,missense,missense	LGALS8	NM_006499.4,NM_201543.2,NM_201544.2,NM_201545.2	29,29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	275/360,233/318,233/318,275/360	236708109	1,13005	2203	4300	6503	234774732	SO:0001583	missense	3964			X91790	CCDS1611.1, CCDS1612.1	1q43	2011-08-04	2008-07-25		ENSG00000116977	ENSG00000116977		"""Lectins, galactoside-binding"""	6569	protein-coding gene	gene with protein product	"""galectin 8"""	606099				7852431, 8692978	Standard	NM_201545		Approved	PCTA-1	uc001hxy.2	O00214	OTTHUMG00000039953	ENST00000366584.4:c.698G>A	1.37:g.236708109G>A	ENSP00000355543:p.Arg233His		234774732	O15215|Q5T3P5|Q5T3Q4|Q8TEV1|Q96B92|Q9BXC8|Q9H584|Q9H585|Q9UEZ6|Q9UP32|Q9UP33|Q9UP34	Missense_Mutation	SNP	superfamily_ConA_like_lec_gl,HMMSmart_GLECT,HMMPfam_Gal-bind_lectin	p.R275H	ENST00000366584.4	37	c.824	CCDS1612.1	1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846768	0.91277	2.27E-4	0.0	ENSG00000116977	ENST00000527974;ENST00000352231;ENST00000526589;ENST00000341872;ENST00000450372;ENST00000366584;ENST00000238181;ENST00000356238;ENST00000416919;ENST00000323938;ENST00000526634;ENST00000525042	T;T;T;T;T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97	5.35	4.43	0.53597	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.42607	0.1210	M	0.86178	2.8	0.80722	D	1	D;P;D	0.64830	0.994;0.905;0.994	P;P;P	0.52554	0.702;0.54;0.702	T	0.56214	-0.8016	10	0.87932	D	0	-13.7362	15.9044	0.79412	0.0:0.0:0.8638:0.1362	.	216;233;275	F6V2D4;O00214;O00214-2	.;LEG8_HUMAN;.	H	275;275;275;233;275;233;174;274;216;206;233;216	ENSP00000431398:R275H;ENSP00000309576:R275H;ENSP00000435460:R275H;ENSP00000342139:R233H;ENSP00000408657:R275H;ENSP00000355543:R233H;ENSP00000238181:R174H;ENSP00000410843:R216H;ENSP00000434860:R206H;ENSP00000437040:R233H;ENSP00000431884:R216H	ENSP00000238181:R174H	R	+	2	0	LGALS8	234774732	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.088000	0.76901	1.610000	0.50200	0.655000	0.94253	CGC	-	superfamily_ConA_like_lec_gl,HMMSmart_GLECT,HMMPfam_Gal-bind_lectin		0.353	LGALS8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	LGALS8	protein_coding	OTTHUMT00000096365.2	G	NM_006499		234774732	+1	no_errors	NM_006499	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
SH3BP5L	80851	genome.wustl.edu	37	1	249119035	249119035	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2552-01A-01D-1526-09	TCGA-36-2552-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e97a1340-6d99-400d-80c5-141096e642ac	3a2fc426-b531-4bb9-b517-b6bdeaa7d38f	g.chr1:249119035C>T	ENST00000366472.5	-	2	1329	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	SH3BP5L_ENST00000475978.1_5'UTR|MIR3124_ENST00000582636.1_RNA	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	34										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CCAGGCTCTTCTGCGACTGGG	0.587																																																0			1											155.0	156.0	156.0					1																	249119035		2203	4300	6503	247085658	SO:0001583	missense	80851			AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.100G>A	1.37:g.249119035C>T	ENSP00000355428:p.Glu34Lys		247085658	B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Missense_Mutation	SNP	HMMPfam_SH3BP5	p.E34K	ENST00000366472.5	37	c.100	CCDS31126.1	1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295227	0.40594	.	.	ENSG00000175137	ENST00000366472	.	.	.	4.19	4.19	0.49359	.	0.314687	0.28724	N	0.014351	T	0.52980	0.1768	N	0.24115	0.695	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.45011	-0.9290	9	0.26408	T	0.33	-28.6909	12.227	0.54465	0.0:1.0:0.0:0.0	.	34	Q7L8J4	3BP5L_HUMAN	K	34	.	ENSP00000355428:E34K	E	-	1	0	SH3BP5L	247085658	0.988000	0.35896	0.934000	0.37439	0.706000	0.40770	3.173000	0.50839	2.324000	0.78689	0.655000	0.94253	GAA	-	NULL		0.587	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BP5L	protein_coding	OTTHUMT00000097140.1	C	NM_030645		247085658	-1	no_errors	NM_030645	genbank	human	provisional	54_36p	missense	SNP	0.144	T
