#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_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	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_EVS_AA	i_EVS_All	i_EVS_EA	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABR	29	genome.wustl.edu	37	17	995066	995066	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr17:995066C>T	ENST00000302538.5	-	4	516	c.370G>A	c.(370-372)Gcc>Acc	p.A124T	ABR_ENST00000291107.2_Missense_Mutation_p.A87T|ABR_ENST00000574437.1_Missense_Mutation_p.A78T|ABR_ENST00000544583.2_Missense_Mutation_p.A78T	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	124	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GAGGTGGTGGCGGTGGCCTTC	0.567																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	dbGAP											0													130.0	124.0	126.0					17																	995066		2203	4300	6503	-	-	-	SO:0001583	missense	0			L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.370G>A	17.37:g.995066C>T	ENSP00000303909:p.Ala124Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain	p.A124T	ENST00000302538.5	37	c.370	CCDS10999.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.733415	0.96865	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000382259	T;T;T	0.23552	1.93;1.95;1.9	6.04	6.04	0.98038	Dbl homology (DH) domain (5);	0.145341	0.64402	D	0.000007	T	0.51601	0.1684	M	0.69185	2.1	0.80722	D	1	D;D;D;D	0.76494	0.999;0.995;0.999;0.975	D;P;D;P	0.80764	0.994;0.884;0.994;0.763	T	0.34179	-0.9839	10	0.44086	T	0.13	.	19.1586	0.93522	0.0:1.0:0.0:0.0	.	78;8;87;124	B3KW89;Q6ZT60;Q12979-2;Q12979	.;.;.;ABR_HUMAN	T	124;78;87;8	ENSP00000303909:A124T;ENSP00000442048:A78T;ENSP00000291107:A87T	ENSP00000291107:A87T	A	-	1	0	ABR	941816	1.000000	0.71417	0.984000	0.44739	0.956000	0.61745	5.952000	0.70282	2.873000	0.98535	0.563000	0.77884	GCC	ABR	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000159842		0.567	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABR	HGNC	protein_coding	OTTHUMT00000206675.4	112	0.00	0	C			995066	995066	-1	no_errors	ENST00000302538	ensembl	human	known	69_37n	missense	87	24.35	28	SNP	1.000	T
ALAS2	212	genome.wustl.edu	37	X	55046896	55046896	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chrX:55046896C>T	ENST00000330807.5	-	6	817	c.680G>A	c.(679-681)cGc>cAc	p.R227H	ALAS2_ENST00000498636.1_5'Flank|ALAS2_ENST00000335854.4_Missense_Mutation_p.R190H|ALAS2_ENST00000396198.3_Missense_Mutation_p.R214H	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	227					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	TGAGATGTTGCGGGTGCCACC	0.547																																						dbGAP											0													38.0	28.0	32.0					X																	55046896		2200	4297	6497	-	-	-	SO:0001583	missense	0				CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.680G>A	X.37:g.55046896C>T	ENSP00000332369:p.Arg227His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth	p.R227H	ENST00000330807.5	37	c.680	CCDS14366.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	32|32	5.175764|5.175764	0.94807|0.94807	.|.	.|.	ENSG00000158578|ENSG00000158578	ENST00000455688|ENST00000330807;ENST00000396198;ENST00000335854	.|D;D;D	.|0.96830	.|-4.14;-4.14;-4.14	5.01|5.01	5.01|5.01	0.66863|0.66863	.|Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98232|0.98232	0.9415|0.9415	M|M	0.87269|0.87269	2.87|2.87	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.80764	.|0.994;0.994;0.994	D|D	0.99453|0.99453	1.0941|1.0941	5|10	.|0.87932	.|D	.|0	-5.7998|-5.7998	16.5241|16.5241	0.84326|0.84326	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|190;214;227	.|A8K6C4;Q5JZF5;P22557	.|.;.;HEM0_HUMAN	T|H	179|227;214;190	.|ENSP00000332369:R227H;ENSP00000379501:R214H;ENSP00000337131:R190H	.|ENSP00000332369:R227H	A|R	-|-	1|2	0|0	ALAS2|ALAS2	55063621|55063621	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.630000|7.630000	0.83225|0.83225	2.245000|2.245000	0.73994|0.73994	0.519000|0.519000	0.50382|0.50382	GCA|CGC	ALAS2	-	pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth	ENSG00000158578		0.547	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ALAS2	HGNC	protein_coding	OTTHUMT00000056843.3	29	0.00	0	C	NM_000032		55046896	55046896	-1	no_errors	ENST00000330807	ensembl	human	known	69_37n	missense	51	27.14	19	SNP	1.000	T
ALDH8A1	64577	genome.wustl.edu	37	6	135263550	135263550	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr6:135263550C>A	ENST00000265605.2	-	3	507	c.439G>T	c.(439-441)Gtc>Ttc	p.V147F	RP11-349J5.2_ENST00000416448.2_RNA|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.V147F|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.V147F	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	147					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		CACTCACCGACTCCCACCGGG	0.567																																						dbGAP											0													73.0	69.0	71.0					6																	135263550		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"""Aldehyde dehydrogenases"""	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.439G>T	6.37:g.135263550C>A	ENSP00000265605:p.Val147Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.V147F	ENST00000265605.2	37	c.439	CCDS5171.1	6	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292625	0.40594	.	.	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847	T;T;T	0.45668	0.89;0.89;0.89	5.32	2.94	0.34122	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.164261	0.52532	D	0.000066	T	0.58963	0.2159	H	0.96048	3.76	0.20563	N	0.999881	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.66716	0.946;0.911;0.946	T	0.58923	-0.7550	10	0.87932	D	0	.	7.9893	0.30231	0.0:0.3442:0.0:0.6558	.	147;147;147	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	F	147	ENSP00000265605:V147F;ENSP00000356819:V147F;ENSP00000356821:V147F	ENSP00000265605:V147F	V	-	1	0	ALDH8A1	135305243	0.960000	0.32886	0.388000	0.26195	0.007000	0.05969	1.249000	0.32839	0.337000	0.23665	-0.302000	0.09304	GTC	ALDH8A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000118514		0.567	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH8A1	HGNC	protein_coding	OTTHUMT00000042334.2	67	0.00	0	C			135263550	135263550	-1	no_errors	ENST00000265605	ensembl	human	known	69_37n	missense	42	20.75	11	SNP	0.998	A
ANGPT1	284	genome.wustl.edu	37	8	108509559	108509559	+	IGR	SNP	C	C	A	rs147086219	byFrequency	TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr8:108509559C>A								ANGPT1 (160809 upstream) : RNA5SP275 (387162 downstream)																							AAGAGAAATCCGGTTCCACGT	0.438																																						dbGAP											0													178.0	160.0	166.0					8																	108509559		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0																															8.37:g.108509559C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.P76		37	c.228		8																																																																																			ANGPT1	-	NULL	ENSG00000154188	0	0.438					ANGPT1	HGNC			123	0.00	0	C			108509559	108509559	-1	no_errors	ENST00000517746	ensembl	human	known	69_37n	silent	113	19.86	28	SNP	0.997	A
ARHGEF25	115557	genome.wustl.edu	37	12	58009443	58009443	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr12:58009443G>A	ENST00000286494.4	+	12	1647	c.1187G>A	c.(1186-1188)gGa>gAa	p.G396E	AC025165.8_ENST00000610219.1_RNA|AC025165.8_ENST00000593846.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.G435E|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	396	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						GCCCTGGGAGGAGGAGTGAGA	0.567																																						dbGAP											0													88.0	82.0	84.0					12																	58009443		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.1187G>A	12.37:g.58009443G>A	ENSP00000286494:p.Gly396Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.G435E	ENST00000286494.4	37	c.1304	CCDS8947.1	12	.	.	.	.	.	.	.	.	.	.	g	16.72	3.201904	0.58234	.	.	ENSG00000240771	ENST00000333972;ENST00000300189;ENST00000286494	T;T	0.38560	1.13;1.15	4.91	4.91	0.64330	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.211530	0.24107	N	0.041499	T	0.19366	0.0465	N	0.05230	-0.09	0.38573	D	0.949984	B;B;B	0.31790	0.34;0.016;0.017	B;B;B	0.30251	0.113;0.024;0.029	T	0.15093	-1.0449	10	0.16420	T	0.52	.	9.3708	0.38252	0.0951:0.0:0.9049:0.0	.	435;396;244	F8W7Z4;Q86VW2;Q96M35	.;ARHGP_HUMAN;.	E	435;244;396	ENSP00000335560:G435E;ENSP00000286494:G396E	ENSP00000286494:G396E	G	+	2	0	ARHGEF25	56295710	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.846000	0.39289	2.724000	0.93272	0.561000	0.74099	GGA	ARHGEF25	-	pfscan_Pleckstrin_homology	ENSG00000240771		0.567	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	ARHGEF25	HGNC	protein_coding	OTTHUMT00000326561.1	102	0.00	0	G	NM_133483		58009443	58009443	+1	no_errors	ENST00000333972	ensembl	human	known	69_37n	missense	49	22.22	14	SNP	1.000	A
ARHGEF25	115557	genome.wustl.edu	37	12	58010139	58010139	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr12:58010139G>C	ENST00000286494.4	+	14	1953	c.1493G>C	c.(1492-1494)gGa>gCa	p.G498A	AC025165.8_ENST00000610219.1_RNA|AC025165.8_ENST00000593846.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.G537A|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	498						cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						AGAGGGCCTGGAGTGGGGAGC	0.592																																						dbGAP											0													65.0	68.0	67.0					12																	58010139		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.1493G>C	12.37:g.58010139G>C	ENSP00000286494:p.Gly498Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.G537A	ENST00000286494.4	37	c.1610	CCDS8947.1	12	.	.	.	.	.	.	.	.	.	.	g	0.022	-1.412599	0.01145	.	.	ENSG00000240771	ENST00000333972;ENST00000286494	T;T	0.29917	1.55;1.55	4.88	3.92	0.45320	Pleckstrin homology-type (1);	0.421193	0.17611	N	0.168081	T	0.17789	0.0427	L	0.29908	0.895	0.09310	N	1	B;B	0.22683	0.073;0.018	B;B	0.21151	0.033;0.016	T	0.26360	-1.0105	10	0.05351	T	0.99	.	9.9717	0.41759	0.0:0.0:0.7981:0.2019	.	537;498	F8W7Z4;Q86VW2	.;ARHGP_HUMAN	A	537;498	ENSP00000335560:G537A;ENSP00000286494:G498A	ENSP00000286494:G498A	G	+	2	0	ARHGEF25	56296406	1.000000	0.71417	0.188000	0.23233	0.724000	0.41520	4.634000	0.61325	2.712000	0.92718	0.650000	0.86243	GGA	ARHGEF25	-	NULL	ENSG00000240771		0.592	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	ARHGEF25	HGNC	protein_coding	OTTHUMT00000326561.1	65	0.00	0	G	NM_133483		58010139	58010139	+1	no_errors	ENST00000333972	ensembl	human	known	69_37n	missense	43	12.24	6	SNP	0.059	C
ATCAY	85300	genome.wustl.edu	37	19	3905527	3905527	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr19:3905527T>G	ENST00000450849.2	+	4	699	c.232T>G	c.(232-234)Tcc>Gcc	p.S78A	ATCAY_ENST00000301260.6_Missense_Mutation_p.S78A|ATCAY_ENST00000398448.3_Missense_Mutation_p.S84A|ATCAY_ENST00000600960.1_Missense_Mutation_p.S78A	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	78					apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		GAGTGAGGGGTCCCTGCTGTC	0.547																																						dbGAP											0													86.0	89.0	88.0					19																	3905527		1981	4155	6136	-	-	-	SO:0001583	missense	0				CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"""Cayman ataxia"", ""caytaxin"""	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.232T>G	19.37:g.3905527T>G	ENSP00000390941:p.Ser78Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.S78A	ENST00000450849.2	37	c.232	CCDS45923.1	19	.	.	.	.	.	.	.	.	.	.	T	19.22	3.784798	0.70222	.	.	ENSG00000167654	ENST00000450849;ENST00000301260;ENST00000357694;ENST00000398448;ENST00000539301	T;T;T	0.43688	0.99;0.99;0.94	4.8	4.8	0.61643	.	0.112494	0.64402	D	0.000007	T	0.61362	0.2341	M	0.84683	2.71	0.40674	D	0.982242	D;B	0.55385	0.971;0.4	P;B	0.57057	0.812;0.426	T	0.66196	-0.5984	10	0.35671	T	0.21	.	13.5394	0.61664	0.0:0.0:0.0:1.0	.	84;78	B4DS11;Q86WG3	.;ATCAY_HUMAN	A	78;78;78;84;56	ENSP00000390941:S78A;ENSP00000301260:S78A;ENSP00000381466:S84A	ENSP00000301260:S78A	S	+	1	0	ATCAY	3856527	1.000000	0.71417	0.994000	0.49952	0.326000	0.28443	7.447000	0.80620	1.794000	0.52575	0.448000	0.29417	TCC	ATCAY	-	pfam_Bcl2-/adenovirus-E1B	ENSG00000167654		0.547	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATCAY	HGNC	protein_coding	OTTHUMT00000457872.2	39	0.00	0	T			3905527	3905527	+1	no_errors	ENST00000301260	ensembl	human	known	69_37n	missense	26	56.67	34	SNP	1.000	G
B9D1	27077	genome.wustl.edu	37	17	19246827	19246827	+	Intron	SNP	C	C	A			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr17:19246827C>A	ENST00000261499.4	-	7	616				B9D1_ENST00000461069.2_Intron|B9D1_ENST00000395615.1_Intron|B9D1_ENST00000395616.3_Missense_Mutation_p.W170L|B9D1_ENST00000477478.2_3'UTR|MIR1180_ENST00000408613.1_RNA|B9D1_ENST00000575403.1_Intron	NM_015681.3	NP_056496.1	Q9UPM9	B9D1_HUMAN	B9 protein domain 1						camera-type eye development (GO:0043010)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|in utero embryonic development (GO:0001701)|neuroepithelial cell differentiation (GO:0060563)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)|vasculature development (GO:0001944)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)	hedgehog receptor activity (GO:0008158)			large_intestine(3)|urinary_tract(1)	4	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)					GAGAGAGACCCAGGTTGATCT	0.602																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC002944	CCDS11205.1, CCDS58528.1	17p11.2	2014-09-17			ENSG00000108641	ENSG00000108641			24123	protein-coding gene	gene with protein product	"""endothelial precursor protein B9"""	614144				21493627	Standard	NM_015681		Approved	B9, EPPB9, MKS9	uc010vyr.2	Q9UPM9	OTTHUMG00000059586	ENST00000261499.4:c.473-53G>T	17.37:g.19246827C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BU22	Missense_Mutation	SNP	pfam_B9_dom	p.W170L	ENST00000261499.4	37	c.509	CCDS11205.1	17	.	.	.	.	.	.	.	.	.	.	C	8.819	0.937170	0.18206	.	.	ENSG00000108641	ENST00000395616	T	0.64991	-0.13	1.68	0.664	0.17890	.	.	.	.	.	T	0.46386	0.1390	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34825	-0.9813	6	0.29301	T	0.29	.	4.2091	0.10503	0.0:0.7806:0.0:0.2194	.	.	.	.	L	170	ENSP00000378978:W170L	ENSP00000378978:W170L	W	-	2	0	B9D1	19187420	0.003000	0.15002	0.001000	0.08648	0.133000	0.20885	0.740000	0.26188	0.286000	0.22352	0.478000	0.44815	TGG	B9D1	-	NULL	ENSG00000108641		0.602	B9D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B9D1	HGNC	protein_coding	OTTHUMT00000132494.1	34	0.00	0	C	NM_015681		19246827	19246827	-1	no_errors	ENST00000395616	ensembl	human	putative	69_37n	missense	19	24.00	6	SNP	0.000	A
BZRAP1	9256	genome.wustl.edu	37	17	56395674	56395674	+	Silent	SNP	G	G	A			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr17:56395674G>A	ENST00000343736.4	-	14	2002	c.1839C>T	c.(1837-1839)atC>atT	p.I613I	BZRAP1_ENST00000268893.6_Silent_p.I553I|BZRAP1_ENST00000355701.3_Silent_p.I613I			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	613						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGCTGTTGTGGATGGACTCGG	0.607																																						dbGAP											0													159.0	142.0	147.0					17																	56395674		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.1839C>T	17.37:g.56395674G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O75111|Q8N5W3	Silent	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain	p.I613	ENST00000343736.4	37	c.1839	CCDS11605.1	17																																																																																			BZRAP1	-	NULL	ENSG00000005379		0.607	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BZRAP1	HGNC	protein_coding	OTTHUMT00000443980.1	68	0.00	0	G	NM_004758		56395674	56395674	-1	no_errors	ENST00000355701	ensembl	human	known	69_37n	silent	286	72.03	739	SNP	0.940	A
NOL4L	140688	genome.wustl.edu	37	20	31041555	31041556	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr20:31041555_31041556insG	ENST00000359676.5	-	4	538_539	c.396_397insC	c.(394-399)ccctacfs	p.Y133fs	RP5-1184F4.5_ENST00000442179.1_RNA|C20orf112_ENST00000475781.1_5'UTR	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	NOL4L_HUMAN		133						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						CCAGAGCTGTAGGGGGGGGACT	0.634																																						dbGAP											0										28,4072		1,26,2023						5.0	1.0			20	27,7927		3,21,3953	no	frameshift	C20orf112	NM_080616.3		4,47,5976	A1A1,A1R,RR		0.3395,0.6829,0.4563				55,11999				-	-	-	SO:0001589	frameshift_variant	0																														ENST00000359676.5:c.397dupC	20.37:g.31041563_31041563dupG	ENSP00000352704:p.Tyr133fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	Frame_Shift_Ins	INS	NULL	p.Y132fs	ENST00000359676.5	37	c.397_396	CCDS13202.1	20																																																																																			C20orf112	-	NULL	ENSG00000197183		0.634	C20orf112-001	KNOWN	basic|CCDS	protein_coding	C20orf112	HGNC	protein_coding	OTTHUMT00000078628.2	15	0.00	0	-			31041555	31041556	-1	no_errors	ENST00000359676	ensembl	human	known	69_37n	frame_shift_ins	13	13.33	2	INS	0.997:0.034	G
C2orf44	80304	genome.wustl.edu	37	2	24261104	24261104	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr2:24261104G>A	ENST00000295148.4	-	2	1318	c.1261C>T	c.(1261-1263)Cag>Tag	p.Q421*	C2orf44_ENST00000406895.3_Nonsense_Mutation_p.Q421*	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	421									C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGGCATACTGATCAGACTTT	0.363			T	ALK	NSCLC																																	dbGAP		Dom	yes		2	2p23.3	80304	chromosome 2 open reading frame 44		E	0													115.0	121.0	119.0					2																	24261104		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.1261C>T	2.37:g.24261104G>A	ENSP00000295148:p.Gln421*	Somatic		WXS	Illumina GAIIx	Phase_IV	D6W532|Q8IYK0|Q9HBP5	Nonsense_Mutation	SNP	NULL	p.Q421*	ENST00000295148.4	37	c.1261	CCDS1705.1	2	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809279	0.50421	.	.	ENSG00000163026	ENST00000295148;ENST00000406895	.	.	.	5.38	2.07	0.26955	.	0.307696	0.38492	N	0.001663	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.0577	7.2194	0.25977	0.0:0.2269:0.4242:0.3488	.	.	.	.	X	421	.	ENSP00000295148:Q421X	Q	-	1	0	C2orf44	24114608	0.988000	0.35896	0.408000	0.26446	0.177000	0.22998	3.542000	0.53625	0.732000	0.32470	0.655000	0.94253	CAG	C2orf44	-	NULL	ENSG00000163026		0.363	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C2orf44	HGNC	protein_coding	OTTHUMT00000246825.1	254	0.00	0	G	NM_025203		24261104	24261104	-1	no_errors	ENST00000295148	ensembl	human	known	69_37n	nonsense	303	19.63	74	SNP	1.000	A
ARIH2OS	646450	genome.wustl.edu	37	3	48956003	48956003	+	Missense_Mutation	SNP	C	C	T	rs372170656		TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr3:48956003C>T	ENST00000408959.2	-	1	815	c.580G>A	c.(580-582)Gac>Aac	p.D194N	ARIH2_ENST00000449376.1_5'Flank|ARIH2_ENST00000356401.4_5'Flank	NM_001123040.1	NP_001116512.1	Q8N7S6	ARI2O_HUMAN	ariadne homolog 2 opposite strand	194						integral component of membrane (GO:0016021)											GCCAGGATGTCTTCTCCGTGC	0.567																																						dbGAP											0													72.0	74.0	73.0					3																	48956003		1568	3582	5150	-	-	-	SO:0001583	missense	0			DA461567	CCDS43088.1	3p21.31	2012-10-08	2012-10-08	2012-10-08	ENSG00000221883	ENSG00000221883			34425	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 71"""	C3orf71			Standard	NM_001123040		Approved		uc010hkk.1	Q8N7S6	OTTHUMG00000156672	ENST00000408959.2:c.580G>A	3.37:g.48956003C>T	ENSP00000386193:p.Asp194Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.D194N	ENST00000408959.2	37	c.580	CCDS43088.1	3	.	.	.	.	.	.	.	.	.	.	C	10.63	1.404858	0.25378	.	.	ENSG00000221883	ENST00000408959	.	.	.	3.13	0.2	0.15181	.	.	.	.	.	T	0.13030	0.0316	N	0.08118	0	0.09310	N	1	P	0.34639	0.461	B	0.28849	0.095	T	0.16630	-1.0396	8	0.87932	D	0	.	5.326	0.15907	0.0:0.5661:0.0:0.4339	.	194	Q8N7S6	CC071_HUMAN	N	194	.	ENSP00000386193:D194N	D	-	1	0	C3orf71	48931007	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.004000	0.12878	0.024000	0.15214	-0.136000	0.14681	GAC	C3orf71	-	NULL	ENSG00000221883		0.567	ARIH2OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf71	HGNC	protein_coding	OTTHUMT00000345247.1	61	0.00	0	C	NM_001123040		48956003	48956003	-1	no_errors	ENST00000408959	ensembl	human	known	69_37n	missense	34	20.93	9	SNP	0.000	T
C7orf61	402573	genome.wustl.edu	37	7	100061348	100061348	+	Intron	SNP	G	G	A			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr7:100061348G>A	ENST00000332375.3	-	2	309				TSC22D4_ENST00000496728.1_Intron|RN7SL161P_ENST00000582642.1_RNA	NM_001004323.1	NP_001004323.1	Q8IZ16	CG061_HUMAN	chromosome 7 open reading frame 61							nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|prostate(1)|skin(1)	4						CAGGAGAGAGGGGCAGGGCAG	0.517																																						dbGAP											0													27.0	31.0	30.0					7																	100061348		2046	4199	6245	-	-	-	SO:0001627	intron_variant	0				CCDS47661.1	7q22.1	2013-10-11			ENSG00000185955	ENSG00000185955			22135	protein-coding gene	gene with protein product						12690205	Standard	NM_001004323		Approved	IMAGE:4839025	uc003uuz.1	Q8IZ16	OTTHUMG00000150234	ENST00000332375.3:c.64-39C>T	7.37:g.100061348G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.P50L	ENST00000332375.3	37	c.149	CCDS47661.1	7	.	.	.	.	.	.	.	.	.	.	G	8.564	0.878404	0.17395	.	.	ENSG00000185955	ENST00000418952	.	.	.	2.54	-2.68	0.06041	.	.	.	.	.	T	0.20455	0.0492	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26608	-1.0098	4	.	.	.	.	3.1483	0.06479	0.5372:0.0:0.2573:0.2056	.	.	.	.	L	50	.	.	P	-	2	0	C7orf61	99899284	0.002000	0.14202	0.000000	0.03702	0.510000	0.34073	-0.197000	0.09518	-0.687000	0.05162	0.491000	0.48974	CCC	C7orf61	-	NULL	ENSG00000185955		0.517	C7orf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf61	HGNC	protein_coding	OTTHUMT00000316976.2	46	0.00	0	G	NM_001004323		100061348	100061348	-1	no_start_codon:pseudogene:no_stop_codon	ENST00000418952	ensembl	human	putative	69_37n	missense	32	31.91	15	SNP	0.000	A
CACNA1G	8913	genome.wustl.edu	37	17	48695611	48695611	+	Silent	SNP	C	C	T			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr17:48695611C>T	ENST00000359106.5	+	32	5334	c.5334C>T	c.(5332-5334)ggC>ggT	p.G1778G	CACNA1G_ENST00000507336.1_Silent_p.G1767G|CACNA1G_ENST00000429973.2_Silent_p.G1760G|CACNA1G_ENST00000514181.1_Silent_p.G1753G|CACNA1G_ENST00000512389.1_Silent_p.G1767G|CACNA1G_ENST00000514717.1_Silent_p.G1721G|CACNA1G_ENST00000507510.2_Silent_p.G1778G|CACNA1G_ENST00000505165.1_Silent_p.G1778G|CACNA1G_ENST00000513964.1_Silent_p.G1733G|CACNA1G_ENST00000442258.2_Silent_p.G1737G|CACNA1G_ENST00000510115.1_Silent_p.G1744G|CACNA1G_ENST00000502264.1_Silent_p.G1755G|CACNA1G_ENST00000515165.1_Silent_p.G1778G|CACNA1G_ENST00000503485.1_Silent_p.G1744G|CACNA1G_ENST00000510366.1_Silent_p.G1726G|CACNA1G_ENST00000354983.4_Silent_p.G1744G|CACNA1G_ENST00000515765.1_Silent_p.G1767G|CACNA1G_ENST00000360761.4_Silent_p.G1755G|CACNA1G_ENST00000352832.5_Silent_p.G1744G|CACNA1G_ENST00000515411.1_Silent_p.G1760G|CACNA1G_ENST00000514079.1_Silent_p.G1785G|CACNA1G_ENST00000507896.1_Silent_p.G1767G|CACNA1G_ENST00000507609.1_Silent_p.G1771G|CACNA1G_ENST00000513689.2_Silent_p.G1733G|CACNA1G_ENST00000358244.5_Silent_p.G1744G	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1778					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCTGTGAGGGCCTGGGCCGTC	0.597																																						dbGAP											0													67.0	70.0	69.0					17																	48695611		1948	4139	6087	-	-	-	SO:0001819	synonymous_variant	0			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.5334C>T	17.37:g.48695611C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	pfam_Ion_trans_dom,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.A1762V	ENST00000359106.5	37	c.5285	CCDS45730.1	17																																																																																			CACNA1G	-	NULL	ENSG00000006283		0.597	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1	63	0.00	0	C	NM_018896		48695611	48695611	+1	no_errors	ENST00000506406	ensembl	human	known	69_37n	missense	54	29.87	23	SNP	1.000	T
CCDC88A	55704	genome.wustl.edu	37	2	55563838	55563839	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	CA	CA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr2:55563838_55563839delCA	ENST00000436346.1	-	14	2475_2476	c.1634_1635delTG	c.(1633-1635)ctgfs	p.L545fs	CCDC88A_ENST00000336838.6_Frame_Shift_Del_p.L545fs|CCDC88A_ENST00000263630.8_Frame_Shift_Del_p.L545fs|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000413716.2_Frame_Shift_Del_p.L545fs|AC012358.8_ENST00000600219.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	545					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						AATTTTCTCTCAGTGTTTCTAT	0.272																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.1634_1635delTG	2.37:g.55563838_55563839delCA	ENSP00000410608:p.Leu545fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Frame_Shift_Del	DEL	pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE	p.L545fs	ENST00000436346.1	37	c.1635_1634		2																																																																																			CCDC88A	-	pfam_HOOK	ENSG00000115355		0.272	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding		162	0.00	0	CA	NM_017571		55563838	55563839	-1	no_errors	ENST00000436346	ensembl	human	known	69_37n	frame_shift_del	159	28.19	64	DEL	0.982:1.000	-
CNOT1	23019	genome.wustl.edu	37	16	58617082	58617082	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr16:58617082C>G	ENST00000317147.5	-	9	1143	c.811G>C	c.(811-813)Gaa>Caa	p.E271Q	CNOT1_ENST00000441024.2_Missense_Mutation_p.E271Q|CNOT1_ENST00000569240.1_Missense_Mutation_p.E271Q	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	271					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CGACATTCTTCAATACTGAAA	0.418																																						dbGAP											0													72.0	68.0	70.0					16																	58617082		2198	4300	6498	-	-	-	SO:0001583	missense	0			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.811G>C	16.37:g.58617082C>G	ENSP00000320949:p.Glu271Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold	p.E271Q	ENST00000317147.5	37	c.811	CCDS10799.1	16	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361248	0.82353	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	T;T	0.27256	1.68;1.68	5.88	5.88	0.94601	.	0.045869	0.85682	D	0.000000	T	0.37892	0.1020	M	0.67397	2.05	0.80722	D	1	P;B;P	0.44478	0.621;0.155;0.836	B;B;P	0.45276	0.282;0.08;0.475	T	0.04281	-1.0963	9	.	.	.	0.9538	20.2422	0.98381	0.0:1.0:0.0:0.0	.	271;271;271	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	Q	271	ENSP00000320949:E271Q;ENSP00000413113:E271Q	.	E	-	1	0	CNOT1	57174583	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.794000	0.85869	2.788000	0.95919	0.650000	0.86243	GAA	CNOT1	-	NULL	ENSG00000125107		0.418	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	HGNC	protein_coding	OTTHUMT00000257385.3	29	0.00	0	C	NM_016284		58617082	58617082	-1	no_errors	ENST00000317147	ensembl	human	known	69_37n	missense	63	24.10	20	SNP	1.000	G
COL6A3	1293	genome.wustl.edu	37	2	238275816	238275816	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr2:238275816C>G	ENST00000295550.4	-	11	5466	c.5014G>C	c.(5014-5016)Gat>Cat	p.D1672H	COL6A3_ENST00000346358.4_Missense_Mutation_p.D1472H|COL6A3_ENST00000347401.3_Missense_Mutation_p.D1471H|COL6A3_ENST00000353578.4_Missense_Mutation_p.D1466H|COL6A3_ENST00000472056.1_Missense_Mutation_p.D1065H|COL6A3_ENST00000409809.1_Missense_Mutation_p.D1466H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1672	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GAGTCGCCATCTTCATAAACT	0.473																																						dbGAP											0													77.0	67.0	71.0					2																	238275816		2203	4300	6503	-	-	-	SO:0001583	missense	0			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5014G>C	2.37:g.238275816C>G	ENSP00000295550:p.Asp1672His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.D1672H	ENST00000295550.4	37	c.5014	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	C	6.991	0.552977	0.13374	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	5.5	4.61	0.57282	von Willebrand factor, type A (3);	0.982623	0.08278	N	0.970355	D	0.88299	0.6399	L	0.38175	1.15	0.09310	N	1	D;D;P	0.76494	0.999;0.991;0.773	D;D;P	0.72982	0.979;0.929;0.65	T	0.79396	-0.1821	10	0.52906	T	0.07	.	16.2921	0.82757	0.0:0.8672:0.1327:0.0	.	1065;1466;1672	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	H	1672;1471;1466;1065;1466;1472	ENSP00000295550:D1672H;ENSP00000315609:D1471H;ENSP00000315873:D1466H;ENSP00000418285:D1065H;ENSP00000386844:D1466H;ENSP00000295546:D1472H	ENSP00000295550:D1672H	D	-	1	0	COL6A3	237940555	0.954000	0.32549	0.019000	0.16419	0.080000	0.17528	4.825000	0.62708	1.283000	0.44513	0.655000	0.94253	GAT	COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000163359		0.473	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	78	0.00	0	C	NM_004369		238275816	238275816	-1	no_errors	ENST00000295550	ensembl	human	known	69_37n	missense	107	24.65	35	SNP	0.019	G
CR2	1380	genome.wustl.edu	37	1	207651345	207651345	+	Silent	SNP	G	G	A			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr1:207651345G>A	ENST00000367058.3	+	15	3030	c.2841G>A	c.(2839-2841)ctG>ctA	p.L947L	CR2_ENST00000367057.3_Silent_p.L1006L|CR2_ENST00000458541.2_Silent_p.L920L|CR2_ENST00000367059.3_Silent_p.L885L	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	947	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GGTATATGCTGGAAGGCAGTC	0.527																																						dbGAP											0													119.0	106.0	111.0					1																	207651345		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.2841G>A	1.37:g.207651345G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.L1006	ENST00000367058.3	37	c.3018	CCDS1478.1	1																																																																																			CR2	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000117322		0.527	CR2-001	KNOWN	basic|CCDS	protein_coding	CR2	HGNC	protein_coding	OTTHUMT00000088274.1	64	0.00	0	G	NM_001877		207651345	207651345	+1	no_errors	ENST00000367057	ensembl	human	known	69_37n	silent	74	23.71	23	SNP	0.971	A
DCP2	167227	genome.wustl.edu	37	5	112312503	112312503	+	5'UTR	SNP	C	C	A	rs190336737	byFrequency	TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr5:112312503C>A	ENST00000389063.2	+	0	71				DCP2_ENST00000543319.1_5'UTR|DCP2_ENST00000515408.1_5'UTR	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA catabolic process (GO:0006402)|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)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)|RISC complex (GO:0016442)	exoribonuclease activity, producing 5'-phosphomonoesters (GO:0016896)|m7G(5')pppN diphosphatase activity (GO:0050072)|manganese ion binding (GO:0030145)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		TTCTCGTCTCCGTTGGAGTCG	0.721																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AY135173	CCDS34210.1, CCDS56377.1	5q22	2013-05-02	2013-05-02		ENSG00000172795	ENSG00000172795	3.6.1.62	"""Nudix motif containing"""	24452	protein-coding gene	gene with protein product	"""nudix (nucleoside diphosphate linked moiety X)-type motif 20"", ""M(7)GpppN-mRNA hydrolase"""	609844	"""DCP2 decapping enzyme homolog (S. cerevisiae)"""			12218187, 12417715	Standard	NM_152624		Approved	NUDT20	uc003kqh.3	Q8IU60	OTTHUMG00000162853	ENST00000389063.2:c.-128C>A	5.37:g.112312503C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	C9J778|Q6P2D4|Q7Z5W5|Q8NBG5	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.R33S	ENST00000389063.2	37	c.97	CCDS34210.1	5	.	.	.	.	.	.	.	.	.	.	C	6.394	0.440853	0.12104	.	.	ENSG00000172795	ENST00000513585	.	.	.	3.8	-3.36	0.04913	.	.	.	.	.	T	0.18045	0.0433	.	.	.	0.20196	N	0.99992	.	.	.	.	.	.	T	0.24476	-1.0159	4	.	.	.	.	1.6447	0.02759	0.1146:0.3274:0.2475:0.3105	.	.	.	.	S	33	.	.	R	+	1	0	DCP2	112340402	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.545000	0.06069	-0.741000	0.04797	-1.195000	0.01675	CGT	DCP2	-	NULL	ENSG00000172795		0.721	DCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCP2	HGNC	protein_coding	OTTHUMT00000370765.3	54	0.00	0	C	NM_152624		112312503	112312503	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000513585	ensembl	human	putative	69_37n	missense	111	12.60	16	SNP	0.000	A
DGKI	9162	genome.wustl.edu	37	7	137270022	137270022	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr7:137270022C>T	ENST00000288490.5	-	14	1496	c.1496G>A	c.(1495-1497)cGc>cAc	p.R499H	DGKI_ENST00000453654.2_Missense_Mutation_p.R199H|DGKI_ENST00000446122.1_Missense_Mutation_p.R499H|DGKI_ENST00000424189.2_Missense_Mutation_p.R499H	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	499	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GAGGTTCCAGCGATCTAGCTG	0.463																																						dbGAP											0													154.0	141.0	145.0					7																	137270022		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1496G>A	7.37:g.137270022C>T	ENSP00000288490:p.Arg499His	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1Q9|Q9NZ49	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R499H	ENST00000288490.5	37	c.1496	CCDS5845.1	7	.	.	.	.	.	.	.	.	.	.	C	36	5.861766	0.97036	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.46451	0.87;0.87;0.87	6.07	6.07	0.98685	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.78201	0.4246	H	0.96662	3.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84606	0.0675	10	0.87932	D	0	.	19.4308	0.94765	0.0:1.0:0.0:0.0	.	199;499	E9PFX6;O75912	.;DGKI_HUMAN	H	199;447;499;499;499	ENSP00000392161:R199H;ENSP00000288490:R499H;ENSP00000399131:R499H	ENSP00000288490:R499H	R	-	2	0	DGKI	136920562	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.621000	0.83083	2.885000	0.99019	0.655000	0.94253	CGC	DGKI	-	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	ENSG00000157680		0.463	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKI	HGNC	protein_coding	OTTHUMT00000341286.3	148	0.00	0	C	NM_004717		137270022	137270022	-1	no_errors	ENST00000424189	ensembl	human	known	69_37n	missense	156	34.73	83	SNP	1.000	T
DHRS11	79154	genome.wustl.edu	37	17	34956183	34956183	+	Silent	SNP	G	G	A			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr17:34956183G>A	ENST00000251312.5	+	5	878	c.666G>A	c.(664-666)gaG>gaA	p.E222E	MRM1_ENST00000250156.7_5'Flank|MRM1_ENST00000585770.1_5'Flank|DHRS11_ENST00000590554.1_Silent_p.E143E	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11	222						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(4)	5						CCACCTATGAGCAAATGAAGG	0.567																																						dbGAP											0													70.0	63.0	66.0					17																	34956183		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11315.2	17q12	2014-05-06			ENSG00000108272	ENSG00000278535		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	28639	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 24C, member 1"""					12975309, 19027726	Standard	NM_024308		Approved	MGC4172, SDR24C1	uc002hnd.3	Q6UWP2	OTTHUMG00000188442	ENST00000251312.5:c.666G>A	17.37:g.34956183G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDZ3|Q9BUC7|Q9H674	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.E222	ENST00000251312.5	37	c.666	CCDS11315.2	17																																																																																			DHRS11	-	prints_Glc/ribitol_DH	ENSG00000108272		0.567	DHRS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS11	HGNC	protein_coding	OTTHUMT00000256681.2	129	0.00	0	G	NM_024308		34956183	34956183	+1	no_errors	ENST00000251312	ensembl	human	known	69_37n	silent	72	32.08	34	SNP	0.886	A
DHRS4L2	317749	genome.wustl.edu	37	14	24470124	24470124	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr14:24470124C>T	ENST00000335125.6	+	4	587	c.461C>T	c.(460-462)cCa>cTa	p.P154L	DHRS4L2_ENST00000382755.4_Missense_Mutation_p.P152L|DHRS4L2_ENST00000537912.1_Intron|DHRS4L2_ENST00000558753.1_Intron|DHRS4L2_ENST00000534993.1_Intron|DHRS4L2_ENST00000545240.1_Intron|DHRS4L2_ENST00000397071.1_Intron|DHRS4L2_ENST00000543805.1_Intron	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	152						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		GCAGTGGTGCCAGAAATGGAG	0.557																																						dbGAP											0													52.0	57.0	55.0					14																	24470124		2197	4297	6494	-	-	-	SO:0001583	missense	0				CCDS9606.2, CCDS73621.1	14q11.2	2011-09-14			ENSG00000187630	ENSG00000187630	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	19731	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 3"""	615196					Standard	NM_001193635		Approved	SDR25C3	uc001wlf.3	Q6PKH6	OTTHUMG00000028778	ENST00000335125.6:c.461C>T	14.37:g.24470124C>T	ENSP00000334801:p.Pro154Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3YLD4	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.P152L	ENST00000335125.6	37	c.455	CCDS9606.2	14	.	.	.	.	.	.	.	.	.	.	-	16.11	3.028979	0.54790	.	.	ENSG00000187630	ENST00000348916;ENST00000335125;ENST00000382755	T;T	0.61158	0.13;1.52	3.76	3.76	0.43208	NAD(P)-binding domain (1);	0.057774	0.64402	D	0.000001	T	0.78298	0.4261	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.83125	-0.0116	10	0.87932	D	0	.	13.109	0.59263	0.0:1.0:0.0:0.0	.	152;152	D3YTE6;Q6PKH6	.;DR4L2_HUMAN	L	92;154;152	ENSP00000334801:P154L;ENSP00000372203:P152L	ENSP00000334801:P154L	P	+	2	0	DHRS4L2	23539964	1.000000	0.71417	0.998000	0.56505	0.516000	0.34256	5.834000	0.69361	1.649000	0.50652	0.194000	0.17425	CCA	DHRS4L2	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR	ENSG00000187630		0.557	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	DHRS4L2	HGNC	protein_coding	OTTHUMT00000071858.4	241	0.00	0	C			24470124	24470124	+1	no_errors	ENST00000382755	ensembl	human	known	69_37n	missense	294	15.76	55	SNP	1.000	T
DHX30	22907	genome.wustl.edu	37	3	47890693	47890693	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr3:47890693C>T	ENST00000445061.1	+	19	3348	c.2941C>T	c.(2941-2943)Cag>Tag	p.Q981*	MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000457607.1_Nonsense_Mutation_p.Q1009*|DHX30_ENST00000446256.2_Nonsense_Mutation_p.Q942*|DHX30_ENST00000348968.4_Nonsense_Mutation_p.Q953*	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	981						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ACTCATCAAGCAGTTCTCAGA	0.592																																						dbGAP											0													98.0	105.0	103.0					3																	47890693		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.2941C>T	3.37:g.47890693C>T	ENSP00000405620:p.Gln981*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Nonsense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q981*	ENST00000445061.1	37	c.2941	CCDS2759.1	3	.	.	.	.	.	.	.	.	.	.	C	43	10.026687	0.99320	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.4774	0.87662	0.0:1.0:0.0:0.0	.	.	.	.	X	942;981;953;1009	.	ENSP00000343442:Q953X	Q	+	1	0	DHX30	47865697	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.589000	0.82641	2.357000	0.79964	0.650000	0.86243	CAG	DHX30	-	NULL	ENSG00000132153		0.592	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DHX30	HGNC	protein_coding	OTTHUMT00000257495.2	109	0.00	0	C	NM_138615		47890693	47890693	+1	no_errors	ENST00000445061	ensembl	human	known	69_37n	nonsense	133	17.18	28	SNP	1.000	T
EGFL6	25975	genome.wustl.edu	37	X	13618176	13618176	+	Silent	SNP	C	C	T			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chrX:13618176C>T	ENST00000361306.1	+	4	620	c.363C>T	c.(361-363)ctC>ctT	p.L121L	EGFL6_ENST00000380602.3_Silent_p.L121L	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	121	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						GCTTTTGCCTCAGTGGCCACA	0.473																																						dbGAP											0													137.0	98.0	111.0					X																	13618176		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"""MAM and EGF domain containing"""	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.363C>T	X.37:g.13618176C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Silent	SNP	pfam_MAM_dom,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,smart_MAM_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.L121	ENST00000361306.1	37	c.363	CCDS14155.1	X																																																																																			EGFL6	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000198759		0.473	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	EGFL6	HGNC	protein_coding	OTTHUMT00000055800.1	155	0.00	0	C	NM_015507		13618176	13618176	+1	no_errors	ENST00000380602	ensembl	human	known	69_37n	silent	214	20.30	55	SNP	1.000	T
FAM104A	84923	genome.wustl.edu	37	17	71228436	71228437	+	Frame_Shift_Ins	INS	-	-	C	rs201327693	byFrequency	TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr17:71228436_71228437insC	ENST00000403627.3	-	1	69_70	c.9_10insG	c.(7-12)gggcgcfs	p.R4fs	C17orf80_ENST00000359042.2_5'Flank|C17orf80_ENST00000582793.1_5'Flank|FAM104A_ENST00000581110.1_Frame_Shift_Ins_p.R4fs|C17orf80_ENST00000577615.1_5'Flank|C17orf80_ENST00000426147.2_5'Flank|FAM104A_ENST00000583178.1_Intron|FAM104A_ENST00000405159.3_Frame_Shift_Ins_p.R4fs|C17orf80_ENST00000255557.4_5'UTR|FAM104A_ENST00000583024.1_Frame_Shift_Ins_p.R4fs|C17orf80_ENST00000535032.2_5'Flank|C17orf80_ENST00000268942.8_5'Flank	NM_032837.2	NP_116226.2	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	4								p.R4fs*8(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTGCTCCGCGCCCCCCCATGT	0.723																																						dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AK027681	CCDS11693.2, CCDS45766.1, CCDS74143.1, CCDS74144.1	17q25.1	2005-12-16			ENSG00000133193	ENSG00000133193			25918	protein-coding gene	gene with protein product							Standard	NM_032837		Approved	FLJ14775	uc002jjj.4	Q969W3	OTTHUMG00000150564	ENST00000403627.3:c.10dupG	17.37:g.71228443_71228443dupC	ENSP00000384648:p.Arg4fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E339	Frame_Shift_Ins	INS	NULL	p.R3fs	ENST00000403627.3	37	c.10_9	CCDS11693.2	17																																																																																			FAM104A	-	NULL	ENSG00000133193		0.723	FAM104A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM104A	HGNC	protein_coding	OTTHUMT00000318935.1	28	0.00	0	-	NM_032837		71228436	71228437	-1	no_errors	ENST00000405159	ensembl	human	known	69_37n	frame_shift_ins	29	12.12	4	INS	1.000:1.000	C
FAT1	2195	genome.wustl.edu	37	4	187532774	187532774	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr4:187532774G>C	ENST00000441802.2	-	14	9828	c.9619C>G	c.(9619-9621)Cca>Gca	p.P3207A		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3207	Cadherin 29. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGCCTCCTTGGCAAGCCTTGA	0.453										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	dbGAP											0													55.0	56.0	56.0					4																	187532774		1931	4152	6083	-	-	-	SO:0001583	missense	0			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.9619C>G	4.37:g.187532774G>C	ENSP00000406229:p.Pro3207Ala	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.P3207A	ENST00000441802.2	37	c.9619	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	G	16.29	3.082952	0.55861	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.26223	1.75	4.94	4.94	0.65067	Cadherin (4);Cadherin-like (1);	0.104742	0.64402	D	0.000002	T	0.58864	0.2152	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64546	-0.6382	10	0.46703	T	0.11	.	18.3533	0.90345	0.0:0.0:1.0:0.0	.	3207	Q14517	FAT1_HUMAN	A	3207;3209	ENSP00000406229:P3207A	ENSP00000260147:P3209A	P	-	1	0	FAT1	187769768	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	7.724000	0.84798	2.558000	0.86282	0.555000	0.69702	CCA	FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000083857		0.453	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	129	0.00	0	G	NM_005245		187532774	187532774	-1	no_errors	ENST00000441802	ensembl	human	known	69_37n	missense	132	16.98	27	SNP	1.000	C
FGD3	89846	genome.wustl.edu	37	9	95765284	95765284	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr9:95765284C>A	ENST00000375482.3	+	4	1027	c.531C>A	c.(529-531)caC>caA	p.H177Q	FGD3_ENST00000337352.6_Missense_Mutation_p.H177Q|FGD3_ENST00000416701.2_Missense_Mutation_p.H177Q	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	177	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						AGCGGCTGCACCTGCTGGACC	0.537																																						dbGAP											0													81.0	92.0	88.0					9																	95765284		1972	4167	6139	-	-	-	SO:0001583	missense	0			AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16027	protein-coding gene	gene with protein product			"""FGD1 family, member 3"""			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.531C>A	9.37:g.95765284C>A	ENSP00000364631:p.His177Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.H177Q	ENST00000375482.3	37	c.531	CCDS43849.1	9	.	.	.	.	.	.	.	.	.	.	C	17.96	3.515590	0.64634	.	.	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352	T;T;T	0.27720	1.65;1.65;1.65	3.84	2.94	0.34122	Dbl homology (DH) domain (5);	0.211981	0.24109	N	0.041470	T	0.35711	0.0941	L	0.35249	1.045	0.80722	D	1	D;P	0.55800	0.973;0.791	P;D	0.63283	0.809;0.913	T	0.13548	-1.0505	10	0.66056	D	0.02	.	5.8625	0.18757	0.0:0.771:0.0:0.229	.	177;177	F8W7P2;Q5JSP0	.;FGD3_HUMAN	Q	177	ENSP00000364631:H177Q;ENSP00000413833:H177Q;ENSP00000336914:H177Q	ENSP00000336914:H177Q	H	+	3	2	FGD3	94805105	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.622000	0.24433	1.194000	0.43101	0.655000	0.94253	CAC	FGD3	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000127084		0.537	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGD3	HGNC	protein_coding	OTTHUMT00000055493.1	131	0.00	0	C	NM_033086		95765284	95765284	+1	no_errors	ENST00000337352	ensembl	human	known	69_37n	missense	112	38.46	70	SNP	1.000	A
FOXN1	8456	genome.wustl.edu	37	17	26861358	26861358	+	Missense_Mutation	SNP	G	G	A	rs561636659		TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr17:26861358G>A	ENST00000226247.2	+	6	966	c.937G>A	c.(937-939)Gat>Aat	p.D313N	FOXN1_ENST00000579795.1_Missense_Mutation_p.D313N	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	313					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					GACAGCACCCGATGGCTGGAA	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		18239	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													71.0	70.0	71.0					17																	26861358		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"""Forkhead boxes"""	12765	protein-coding gene	gene with protein product		600838	"""winged-helix nude"", ""Rowett nude"""	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.937G>A	17.37:g.26861358G>A	ENSP00000226247:p.Asp313Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9Q7|O15352	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.D313N	ENST00000226247.2	37	c.937	CCDS11232.1	17	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543253	0.65198	.	.	ENSG00000109101	ENST00000226247	D	0.95518	-3.73	5.73	5.73	0.89815	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.93848	0.8032	L	0.46614	1.455	0.80722	D	1	B	0.22276	0.067	B	0.20384	0.029	D	0.90347	0.4363	10	0.62326	D	0.03	.	19.8853	0.96910	0.0:0.0:1.0:0.0	.	313	O15353	FOXN1_HUMAN	N	313	ENSP00000226247:D313N	ENSP00000226247:D313N	D	+	1	0	FOXN1	23885485	1.000000	0.71417	0.907000	0.35723	0.487000	0.33371	9.869000	0.99810	2.701000	0.92244	0.655000	0.94253	GAT	FOXN1	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head	ENSG00000109101		0.557	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXN1	HGNC	protein_coding	OTTHUMT00000255832.1	108	0.00	0	G			26861358	26861358	+1	no_errors	ENST00000226247	ensembl	human	known	69_37n	missense	167	18.14	37	SNP	1.000	A
GBP6	163351	genome.wustl.edu	37	1	89850894	89850894	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr1:89850894A>G	ENST00000370456.4	+	11	1861	c.1768A>G	c.(1768-1770)Act>Gct	p.T590A	GBP6_ENST00000535065.1_Missense_Mutation_p.T460A	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	590					cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		AAATGATGATACTCCCTGGAT	0.383																																						dbGAP											0													149.0	137.0	141.0					1																	89850894		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.1768A>G	1.37:g.89850894A>G	ENSP00000359485:p.Thr590Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRM3|Q6ZN86|Q7Z3F0	Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.T590A	ENST00000370456.4	37	c.1768	CCDS723.1	1	.	.	.	.	.	.	.	.	.	.	A	3.535	-0.094860	0.07010	.	.	ENSG00000183347	ENST00000544311;ENST00000370456;ENST00000535065	T;T	0.62639	0.01;4.75	4.5	-8.99	0.00751	.	1.393290	0.05572	N	0.571234	T	0.13670	0.0331	L	0.31294	0.92	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.05801	-1.0863	10	0.05721	T	0.95	5.6282	5.4576	0.16600	0.1205:0.1876:0.5065:0.1855	.	590	Q6ZN66	GBP6_HUMAN	A	561;590;460	ENSP00000359485:T590A;ENSP00000442530:T460A	ENSP00000359485:T590A	T	+	1	0	GBP6	89623482	0.000000	0.05858	0.000000	0.03702	0.168000	0.22595	-4.242000	0.00267	-2.032000	0.00926	0.383000	0.25322	ACT	GBP6	-	NULL	ENSG00000183347		0.383	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP6	HGNC	protein_coding	OTTHUMT00000028001.1	254	0.00	0	A	NM_198460		89850894	89850894	+1	no_errors	ENST00000370456	ensembl	human	known	69_37n	missense	187	24.10	60	SNP	0.000	G
GCNT3	9245	genome.wustl.edu	37	15	59910998	59910998	+	Silent	SNP	C	C	T			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr15:59910998C>T	ENST00000396065.1	+	3	1009	c.561C>T	c.(559-561)ttC>ttT	p.F187F	GCNT3_ENST00000560585.1_Silent_p.F187F	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	187					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAAATGTCTTCATAGCCAGTA	0.498																																						dbGAP											0													117.0	109.0	112.0					15																	59910998		2190	4290	6480	-	-	-	SO:0001819	synonymous_variant	0			AF102542	CCDS10172.1	15q22	2013-02-25			ENSG00000140297	ENSG00000140297	2.4.1.102, 2.4.1.150	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4205	protein-coding gene	gene with protein product		606836				9915862, 9988682	Standard	NM_004751		Approved	C2GnT-M, C2/4GnT, C2GnT2	uc002age.3	O95395	OTTHUMG00000132726	ENST00000396065.1:c.561C>T	15.37:g.59910998C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Glyco_trans_14	p.F187	ENST00000396065.1	37	c.561	CCDS10172.1	15																																																																																			GCNT3	-	pfam_Glyco_trans_14	ENSG00000140297		0.498	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCNT3	HGNC	protein_coding	OTTHUMT00000256068.1	187	0.00	0	C	NM_004751		59910998	59910998	+1	no_errors	ENST00000396065	ensembl	human	known	69_37n	silent	265	24.43	86	SNP	0.294	T
GGTLC2	91227	genome.wustl.edu	37	22	22988911	22988911	+	Silent	SNP	G	G	A	rs9612135	byFrequency	TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr22:22988911G>A	ENST00000480559.1	+	1	96	c.96G>A	c.(94-96)ccG>ccA	p.P32P	POM121L1P_ENST00000402027.1_RNA|GGTLC2_ENST00000448514.1_Silent_p.P32P	NM_199127.2	NP_954578.2	Q14390	GGTL2_HUMAN	gamma-glutamyltransferase light chain 2	32					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)	gamma-glutamyltransferase activity (GO:0003840)	p.P32P(1)		endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		TCTACACGCCGGTTGATGGGG	0.617													.|||	1847	0.36881	0.1505	0.6124	5008	,	,		7239	0.5109		0.4056	False		,,,				2504	0.3067					dbGAP											1	Substitution - coding silent(1)	prostate(1)											32.0	17.0	22.0					22																	22988911		2173	3963	6136	-	-	-	SO:0001819	synonymous_variant	0			X98922	CCDS13802.2	22q11.21	2008-03-25	2008-03-10	2008-03-10	ENSG00000100121	ENSG00000100121		"""Gamma-glutamyltransferases"""	18596	protein-coding gene	gene with protein product		612339	"""gamma-glutamyltransferase-like 4"""	GGTL4		9074928, 18357469	Standard	NM_199127		Approved		uc010gtt.2	Q14390	OTTHUMG00000151177	ENST00000480559.1:c.96G>A	22.37:g.22988911G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A516|A2VCM9|Q5NV76|Q6ISH0	Silent	SNP	pfam_GGT_peptidase,prints_GGT_peptidase	p.P32	ENST00000480559.1	37	c.96	CCDS13802.2	22																																																																																			GGTLC2	-	pfam_GGT_peptidase	ENSG00000100121		0.617	GGTLC2-001	KNOWN	basic|CCDS	protein_coding	GGTLC2	HGNC	protein_coding	OTTHUMT00000321662.1	15	0.00	0	G	NM_199127		22988911	22988911	+1	no_errors	ENST00000448514	ensembl	human	known	69_37n	silent	5	37.50	3	SNP	0.990	A
GPC6	10082	genome.wustl.edu	37	13	94197641	94197641	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr13:94197641A>G	ENST00000377047.4	+	2	901	c.286A>G	c.(286-288)Acc>Gcc	p.T96A		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	96					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TTTTGTGCGCACCACTTTTGT	0.393																																						dbGAP											0													152.0	146.0	148.0					13																	94197641		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.286A>G	13.37:g.94197641A>G	ENSP00000366246:p.Thr96Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	pfam_Glypican	p.T96A	ENST00000377047.4	37	c.286	CCDS9469.1	13	.	.	.	.	.	.	.	.	.	.	A	4.988	0.183401	0.09495	.	.	ENSG00000183098	ENST00000377047	T	0.47869	0.83	5.05	5.05	0.67936	.	0.338347	0.26923	N	0.021817	T	0.24774	0.0601	N	0.10733	0.035	0.30928	N	0.727214	B;B	0.02656	0.0;0.0	B;B	0.11329	0.006;0.006	T	0.18777	-1.0326	10	0.14252	T	0.57	.	9.6584	0.39941	0.9214:0.0:0.0786:0.0	.	96;96	B4E2M1;Q9Y625	.;GPC6_HUMAN	A	96	ENSP00000366246:T96A	ENSP00000366246:T96A	T	+	1	0	GPC6	92995642	0.976000	0.34144	0.996000	0.52242	0.996000	0.88848	5.786000	0.69006	2.037000	0.60232	0.524000	0.50904	ACC	GPC6	-	pfam_Glypican	ENSG00000183098		0.393	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC6	HGNC	protein_coding	OTTHUMT00000045460.4	329	0.60	2	A	NM_005708		94197641	94197641	+1	no_errors	ENST00000377047	ensembl	human	known	69_37n	missense	450	17.55	96	SNP	0.997	G
H2AFY	9555	genome.wustl.edu	37	5	134705192	134705192	+	Silent	SNP	G	G	A			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr5:134705192G>A	ENST00000511689.1	-	4	974	c.381C>T	c.(379-381)atC>atT	p.I127I	H2AFY_ENST00000304332.4_Silent_p.I127I|H2AFY_ENST00000510038.1_Silent_p.I127I|H2AFY_ENST00000312469.4_Silent_p.I127I|H2AFY_ENST00000423969.2_Intron	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	127	Lys-rich.				chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of cell cycle G2/M phase transition (GO:1902750)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|condensed chromosome (GO:0000793)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|sex chromatin (GO:0001739)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|rDNA binding (GO:0000182)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTGGTGTGATGATGGCTTCCA	0.522																																						dbGAP											0													137.0	146.0	143.0					5																	134705192		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF054174	CCDS4183.1, CCDS4184.1, CCDS4185.1	5q31.1	2011-01-27			ENSG00000113648	ENSG00000113648		"""Histones / Replication-independent"""	4740	protein-coding gene	gene with protein product		610054				9653160, 9714746	Standard	NM_004893		Approved	macroH2A1.2	uc003lam.1	O75367	OTTHUMG00000129141	ENST00000511689.1:c.381C>T	5.37:g.134705192G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O75377|Q503A8|Q7Z5E3|Q96D41|Q9H8P3|Q9UP96	Silent	SNP	pfam_A1pp,pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,smart_A1pp,pirsf_Core_histone_macro-H2A,pfscan_A1pp,prints_Histone_H2A	p.I127	ENST00000511689.1	37	c.381	CCDS4185.1	5																																																																																			H2AFY	-	pirsf_Core_histone_macro-H2A	ENSG00000113648		0.522	H2AFY-001	KNOWN	basic|CCDS	protein_coding	H2AFY	HGNC	protein_coding	OTTHUMT00000251196.3	203	0.97	2	G	NM_004893		134705192	134705192	-1	no_errors	ENST00000511689	ensembl	human	known	69_37n	silent	135	27.03	50	SNP	1.000	A
HELT	391723	genome.wustl.edu	37	4	185941910	185941911	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr4:185941910_185941911insC	ENST00000515777.1	+	4	801_802	c.713_714insC	c.(712-717)caccccfs	p.HP238fs	HELT_ENST00000505610.1_Frame_Shift_Ins_p.HP237fs|HELT_ENST00000338875.4_Frame_Shift_Ins_p.HP323fs			A6NFD8	HELT_HUMAN	helt bHLH transcription factor	238	Pro-rich.				central nervous system development (GO:0007417)|GABAergic neuron differentiation in basal ganglia (GO:0021858)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		ACGCCCCAGCACCCCCCGGTGC	0.579																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC144567	CCDS75214.1, CCDS75215.1	4q35.1	2014-07-17	2011-09-12		ENSG00000187821	ENSG00000187821		"""Basic helix-loop-helix proteins"""	33783	protein-coding gene	gene with protein product	"""megane bHLH factor"", ""HES-like"""		"""Hey-like transcription factor (zebrafish)"", ""HES/HEY-like transcription factor"""			14764602, 17611227	Standard	XM_005262989		Approved	HESL, HCM1228, Mgn, bHLHb44, MEGANE	uc011ckq.2	A6NFD8	OTTHUMG00000160484	ENST00000515777.1:c.719dupC	4.37:g.185941916_185941916dupC	ENSP00000426033:p.His238fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTS5|B7ZMI7|B7ZMI8	Frame_Shift_Ins	INS	pfam_HLH_DNA-bd,pfam_Orange,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_Orange,pfscan_HLH_DNA-bd	p.V326fs	ENST00000515777.1	37	c.968_969		4																																																																																			HELT	-	NULL	ENSG00000187821		0.579	HELT-002	NOVEL	basic|appris_candidate_longest	protein_coding	HELT	HGNC	protein_coding	OTTHUMT00000360792.1	32	0.00	0	-	NM_001300781		185941910	185941911	+1	no_errors	ENST00000338875	ensembl	human	known	69_37n	frame_shift_ins	24	11.11	3	INS	1.000:1.000	C
HMCN1	83872	genome.wustl.edu	37	1	185946924	185946924	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr1:185946924C>T	ENST00000271588.4	+	16	2606	c.2377C>T	c.(2377-2379)Cca>Tca	p.P793S	HMCN1_ENST00000367492.2_Missense_Mutation_p.P793S|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	793	Ig-like C2-type 5.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCCAGCACCTCCAGTTTTCAT	0.328																																						dbGAP											0													145.0	128.0	134.0					1																	185946924		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.2377C>T	1.37:g.185946924C>T	ENSP00000271588:p.Pro793Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.P793S	ENST00000271588.4	37	c.2377	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.723566	0.89298	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.51817	0.69;0.69	5.65	5.65	0.86999	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80210	0.4581	H	0.96333	3.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85685	0.1303	10	0.62326	D	0.03	.	19.7321	0.96186	0.0:1.0:0.0:0.0	.	177;793	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	S	793	ENSP00000271588:P793S;ENSP00000356462:P793S	ENSP00000271588:P793S	P	+	1	0	HMCN1	184213547	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	6.909000	0.75735	2.668000	0.90789	0.655000	0.94253	CCA	HMCN1	-	pfam_Ig_I-set,pfscan_Ig-like	ENSG00000143341		0.328	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	269	0.00	0	C	NM_031935		185946924	185946924	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	missense	348	16.95	71	SNP	1.000	T
IKBKE	9641	genome.wustl.edu	37	1	206658371	206658371	+	Silent	SNP	C	C	T			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr1:206658371C>T	ENST00000367120.3	+	14	1838	c.1465C>T	c.(1465-1467)Ctg>Ttg	p.L489L	IKBKE_ENST00000537984.1_Silent_p.L404L	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	489	Interaction with DDX3X.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GATCCAGGAACTGAAGGCGGC	0.612																																						dbGAP											0													57.0	52.0	54.0					1																	206658371		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.1465C>T	1.37:g.206658371C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT78|Q3B754|Q3KR43|Q5JTS6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L489	ENST00000367120.3	37	c.1465	CCDS30996.1	1																																																																																			IKBKE	-	NULL	ENSG00000143466		0.612	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKE	HGNC	protein_coding	OTTHUMT00000088484.1	58	0.00	0	C			206658371	206658371	+1	no_errors	ENST00000367120	ensembl	human	known	69_37n	silent	104	15.45	19	SNP	0.114	T
KHDC3L	154288	genome.wustl.edu	37	6	74072594	74072594	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr6:74072594G>A	ENST00000370367.3	+	1	195	c.142G>A	c.(142-144)Gag>Aag	p.E48K		NM_001017361.2	NP_001017361.1	Q587J8	KHD3L_HUMAN	KH domain containing 3-like, subcortical maternal complex member	48	KH; atypical.						RNA binding (GO:0003723)										AGTTCGCCTTGAGGTTTGGCT	0.557																																						dbGAP											0													96.0	95.0	96.0					6																	74072594		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB211062	CCDS34484.1	6q13	2012-06-25	2012-06-25	2012-06-25	ENSG00000203908	ENSG00000203908			33699	protein-coding gene	gene with protein product	"""ES cell associated transcript 1"""	611687	"""chromosome 6 open reading frame 221"""	C6orf221		21885028	Standard	NM_001017361		Approved	ECAT1	uc003pgt.4	Q587J8	OTTHUMG00000015024	ENST00000370367.3:c.142G>A	6.37:g.74072594G>A	ENSP00000359392:p.Glu48Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNW7	Missense_Mutation	SNP	NULL	p.E48K	ENST00000370367.3	37	c.142	CCDS34484.1	6	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694843	0.48202	.	.	ENSG00000203908	ENST00000370367	T	0.42131	0.98	3.53	2.66	0.31614	.	0.000000	0.44902	D	0.000412	T	0.42086	0.1187	M	0.62723	1.935	0.26589	N	0.973232	D	0.71674	0.998	D	0.73380	0.98	T	0.16276	-1.0408	10	0.87932	D	0	-42.4705	6.9721	0.24654	0.1244:0.0:0.8756:0.0	.	48	Q587J8	ECAT1_HUMAN	K	48	ENSP00000359392:E48K	ENSP00000359392:E48K	E	+	1	0	C6orf221	74129315	0.969000	0.33509	0.525000	0.27900	0.367000	0.29736	2.490000	0.45294	1.083000	0.41159	0.561000	0.74099	GAG	KHDC3L	-	NULL	ENSG00000203908		0.557	KHDC3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDC3L	HGNC	protein_coding	OTTHUMT00000041202.3	71	0.00	0	G	NM_001017361		74072594	74072594	+1	no_errors	ENST00000370367	ensembl	human	known	69_37n	missense	69	22.47	20	SNP	0.528	A
TRIM46	80128	genome.wustl.edu	37	1	155145340	155145340	+	5'Flank	SNP	G	G	C			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr1:155145340G>C	ENST00000334634.4	+	0	0				TRIM46_ENST00000543729.1_5'Flank|TRIM46_ENST00000368383.3_5'Flank|TRIM46_ENST00000545012.1_5'Flank|TRIM46_ENST00000368385.4_5'Flank|TRIM46_ENST00000368382.1_5'Flank|KRTCAP2_ENST00000295682.4_Silent_p.L37L|TRIM46_ENST00000392451.2_5'Flank|KRTCAP2_ENST00000490672.1_5'UTR|RP11-201K10.3_ENST00000473363.2_Missense_Mutation_p.L79V	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46							intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGAGGGAGGAGAGCGCCAGCG	0.662																																						dbGAP											0													45.0	48.0	47.0					1																	155145340		2203	4300	6503	-	-	-	SO:0001631	upstream_gene_variant	0				CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680		1.37:g.155145340G>C	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Silent	SNP	pfam_Uncharacterised_KRTCAP2	p.L37	ENST00000334634.4	37	c.111	CCDS1097.1	1																																																																																			KRTCAP2	-	pfam_Uncharacterised_KRTCAP2	ENSG00000163463		0.662	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTCAP2	HGNC	protein_coding	OTTHUMT00000086728.1	47	0.00	0	G	NM_025058		155145340	155145340	-1	no_errors	ENST00000295682	ensembl	human	known	69_37n	silent	53	20.90	14	SNP	0.469	C
LHX9	56956	genome.wustl.edu	37	1	197889297	197889297	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr1:197889297T>C	ENST00000367387.4	+	2	795	c.370T>C	c.(370-372)Tac>Cac	p.Y124H	LHX9_ENST00000367390.3_Missense_Mutation_p.Y115H|LHX9_ENST00000561173.1_Missense_Mutation_p.Y130H|LHX9_ENST00000337020.2_Missense_Mutation_p.Y124H|LHX9_ENST00000367391.1_Missense_Mutation_p.Y115H	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	124	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						CAAGGAGGATTACTACAGGTA	0.577																																						dbGAP											0													147.0	138.0	141.0					1																	197889297		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.370T>C	1.37:g.197889297T>C	ENSP00000356357:p.Tyr124His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.Y124H	ENST00000367387.4	37	c.370	CCDS1393.1	1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.534982	0.85812	.	.	ENSG00000143355	ENST00000367391;ENST00000367390;ENST00000337020;ENST00000367387	D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14	5.61	5.61	0.85477	Zinc finger, LIM-type (3);	0.000000	0.85682	D	0.000000	D	0.96522	0.8865	M	0.89478	3.035	0.80722	D	1	D;D;P	0.89917	1.0;0.997;0.638	D;P;B	0.80764	0.994;0.902;0.359	D	0.97222	0.9878	10	0.87932	D	0	.	15.283	0.73801	0.0:0.0:0.0:1.0	.	124;115;115	Q9NQ69;Q9NQ69-3;Q9NQ69-2	LHX9_HUMAN;.;.	H	115;115;124;124	ENSP00000356361:Y115H;ENSP00000356360:Y115H;ENSP00000337969:Y124H;ENSP00000356357:Y124H	ENSP00000337969:Y124H	Y	+	1	0	LHX9	196155920	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.643000	0.83403	2.254000	0.74563	0.533000	0.62120	TAC	LHX9	-	pfam_Znf_LIM,pfscan_Znf_LIM	ENSG00000143355		0.577	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LHX9	HGNC	protein_coding	OTTHUMT00000086547.2	152	0.00	0	T	NM_020204		197889297	197889297	+1	no_errors	ENST00000367387	ensembl	human	known	69_37n	missense	239	18.15	53	SNP	1.000	C
LMTK2	22853	genome.wustl.edu	37	7	97821026	97821026	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr7:97821026G>A	ENST00000297293.5	+	11	1542	c.1249G>A	c.(1249-1251)Gac>Aac	p.D417N		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	417					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GAGCCAGCGGGACTCAGAGGT	0.532																																						dbGAP											0													76.0	68.0	71.0					7																	97821026		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1249G>A	7.37:g.97821026G>A	ENSP00000297293:p.Asp417Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D417N	ENST00000297293.5	37	c.1249	CCDS5654.1	7	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005334	0.93287	.	.	ENSG00000164715	ENST00000297293	T	0.61859	0.07	5.41	4.53	0.55603	Protein kinase-like domain (1);	0.045494	0.85682	D	0.000000	T	0.64972	0.2647	M	0.72118	2.19	0.50171	D	0.99985	P	0.52692	0.955	P	0.49597	0.616	T	0.69907	-0.5018	10	0.62326	D	0.03	.	13.5538	0.61747	0.0752:0.0:0.9248:0.0	.	417	Q8IWU2	LMTK2_HUMAN	N	417	ENSP00000297293:D417N	ENSP00000297293:D417N	D	+	1	0	LMTK2	97658962	1.000000	0.71417	0.974000	0.42286	0.966000	0.64601	9.420000	0.97426	1.429000	0.47314	0.655000	0.94253	GAC	LMTK2	-	superfamily_Kinase-like_dom	ENSG00000164715		0.532	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMTK2	HGNC	protein_coding	OTTHUMT00000334560.1	89	0.00	0	G	NM_014916		97821026	97821026	+1	no_errors	ENST00000297293	ensembl	human	known	69_37n	missense	78	25.47	27	SNP	1.000	A
MAGI3	260425	genome.wustl.edu	37	1	114226131	114226131	+	Missense_Mutation	SNP	G	G	A	rs573108619		TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr1:114226131G>A	ENST00000307546.9	+	21	4016	c.3941G>A	c.(3940-3942)cGa>cAa	p.R1314Q	MAGI3_ENST00000369615.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1339					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTAAGAGTCGAAGAATAGCA	0.453																																						dbGAP											0													131.0	119.0	123.0					1																	114226131		1568	3582	5150	-	-	-	SO:0001583	missense	0			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.3941G>A	1.37:g.114226131G>A	ENSP00000304604:p.Arg1314Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.R1314Q	ENST00000307546.9	37	c.3941	CCDS44196.1	1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175124	0.38413	.	.	ENSG00000081026	ENST00000307546;ENST00000546156	T	0.53640	0.61	5.1	-1.55	0.08558	.	0.456846	0.18946	N	0.126813	T	0.10121	0.0248	N	0.17082	0.46	0.09310	N	0.999999	B	0.09022	0.002	B	0.06405	0.002	T	0.26121	-1.0112	10	0.44086	T	0.13	.	6.3307	0.21269	0.4393:0.1194:0.4413:0.0	.	1314	Q5TCQ9-4	.	Q	1314;354	ENSP00000304604:R1314Q	ENSP00000304604:R1314Q	R	+	2	0	MAGI3	114027654	0.000000	0.05858	0.000000	0.03702	0.209000	0.24338	-0.410000	0.07151	-0.522000	0.06417	-0.806000	0.03193	CGA	MAGI3	-	NULL	ENSG00000081026		0.453	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	MAGI3	HGNC	protein_coding	OTTHUMT00000032429.1	212	0.00	0	G	NM_152900		114226131	114226131	+1	no_errors	ENST00000307546	ensembl	human	novel	69_37n	missense	297	21.43	81	SNP	0.002	A
MC4R	4160	genome.wustl.edu	37	18	58038781	58038781	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr18:58038781A>C	ENST00000299766.3	-	1	1220	c.802T>G	c.(802-804)Tac>Gac	p.Y268D		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	268					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				CAAGAGATGTAGAATATTAAG	0.433																																						dbGAP											0													106.0	94.0	98.0					18																	58038781		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"""GPCR / Class A : Melanocortin receptors"""	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.802T>G	18.37:g.58038781A>C	ENSP00000299766:p.Tyr268Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAC3|Q16317|Q3MIJ6	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Melcrt_ACTH_rcpt,prints_Mcort_rcpt_4,prints_7TM_GPCR_Rhodpsn,prints_Melancort_rcpt,prints_Cnbnoid_rcpt	p.Y268D	ENST00000299766.3	37	c.802	CCDS11976.1	18	.	.	.	.	.	.	.	.	.	.	A	17.49	3.402018	0.62288	.	.	ENSG00000166603	ENST00000299766	T	0.70631	-0.5	5.85	5.85	0.93711	GPCR, rhodopsin-like superfamily (1);	0.162035	0.53938	D	0.000041	T	0.55832	0.1945	N	0.01800	-0.715	0.53005	D	0.999968	P	0.45212	0.853	P	0.49451	0.611	T	0.69859	-0.5031	10	0.87932	D	0	.	14.1876	0.65617	1.0:0.0:0.0:0.0	.	268	P32245	MC4R_HUMAN	D	268	ENSP00000299766:Y268D	ENSP00000299766:Y268D	Y	-	1	0	MC4R	56189761	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.989000	0.76219	2.238000	0.73509	0.533000	0.62120	TAC	MC4R	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Melcrt_ACTH_rcpt,prints_Melancort_rcpt	ENSG00000166603		0.433	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC4R	HGNC	protein_coding	OTTHUMT00000256139.1	143	0.69	1	A	NM_005912		58038781	58038781	-1	no_errors	ENST00000299766	ensembl	human	known	69_37n	missense	176	31.78	82	SNP	1.000	C
MED13L	23389	genome.wustl.edu	37	12	116457650	116457653	+	Frame_Shift_Del	DEL	TTCT	TTCT	-	rs28940309		TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	TTCT	TTCT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr12:116457650_116457653delTTCT	ENST00000281928.3	-	6	956_959	c.750_753delAGAA	c.(748-753)aaagaafs	p.KE250fs		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	250						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CTTTCGATTCTTCTTTCTTTTTTA	0.412																																						dbGAP											0			GRCh37	CM033935	MED13L	M	rs28940309																																			-	-	-	SO:0001589	frameshift_variant	0			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.750_753delAGAA	12.37:g.116457654_116457657delTTCT	ENSP00000281928:p.Lys250fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Frame_Shift_Del	DEL	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.E251fs	ENST00000281928.3	37	c.753_750	CCDS9177.1	12																																																																																			MED13L	-	pfam_Mediator_Med13_N_met/fun	ENSG00000123066		0.412	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13L	HGNC	protein_coding	OTTHUMT00000403879.3	231	0.00	0	TTCT			116457650	116457653	-1	no_errors	ENST00000281928	ensembl	human	known	69_37n	frame_shift_del	296	14.41	50	DEL	0.358:0.998:1.000:0.998	-
MGMT	4255	genome.wustl.edu	37	10	131506231	131506231	+	Silent	SNP	G	G	A			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr10:131506231G>A	ENST00000306010.7	+	3	323	c.291G>A	c.(289-291)ctG>ctA	p.L97L	MGMT_ENST00000462672.1_3'UTR	NM_002412.3	NP_002403.2	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	66					cellular response to ionizing radiation (GO:0071479)|cellular response to organic cyclic compound (GO:0071407)|cellular response to oxidative stress (GO:0034599)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA ligation (GO:0006266)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to toxic substance (GO:0009636)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methylated-DNA-[protein]-cysteine S-methyltransferase activity (GO:0003908)|methyltransferase activity (GO:0008168)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	L-Cysteine(DB00151)	CAGCCTGGCTGAATGCCTATT	0.602								Direct reversal of damage																														dbGAP											0													97.0	98.0	97.0					10																	131506231		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M29971	CCDS7660.2	10q26	2005-10-06			ENSG00000170430	ENSG00000170430			7059	protein-coding gene	gene with protein product		156569					Standard	NM_002412		Approved		uc001lkh.2	P16455	OTTHUMG00000019261	ENST00000306010.7:c.291G>A	10.37:g.131506231G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VY78	Silent	SNP	pfam_MethylDNA_cys_MeTrfase_DNA-bd,pfam_MethylG_MeTrfase,superfamily_MethylDNA_cys_MeTrfase_DNA-bd,tigrfam_MethylDNA_cys_MeTrfase_DNA-bd	p.L97	ENST00000306010.7	37	c.291	CCDS7660.2	10																																																																																			MGMT	-	pfam_MethylG_MeTrfase	ENSG00000170430		0.602	MGMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGMT	HGNC	protein_coding	OTTHUMT00000051009.3	110	0.00	0	G	NM_002412		131506231	131506231	+1	no_errors	ENST00000306010	ensembl	human	known	69_37n	silent	97	21.77	27	SNP	0.946	A
NDE1	54820	genome.wustl.edu	37	16	15737203	15737204	+	5'UTR	INS	-	-	G			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr16:15737203_15737204insG	ENST00000396353.2	+	0	80_81				KIAA0430_ENST00000396368.3_5'Flank|NDE1_ENST00000396355.1_5'UTR|KIAA0430_ENST00000344181.3_5'Flank|KIAA0430_ENST00000602337.1_5'Flank|KIAA0430_ENST00000548025.1_5'Flank|KIAA0430_ENST00000551742.1_5'Flank|MIR484_ENST00000606601.1_RNA|KIAA0430_ENST00000540441.2_5'Flank			Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1						centrosome duplication (GO:0051298)|cerebral cortex development (GO:0021987)|establishment of chromosome localization (GO:0051303)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuroblast proliferation (GO:0007405)|neuron migration (GO:0001764)|vesicle transport along microtubule (GO:0047496)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole centrosome (GO:0031616)	microtubule binding (GO:0008017)			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						GGGACTTTCCCGGGGGGTGACC	0.634																																						dbGAP											0										8,3920		0,8,1956						-5.2	0.0			16	6,7422		0,6,3708	no	utr-5	NDE1	NM_001143979.1		0,14,5664	A1A1,A1R,RR		0.0808,0.2037,0.1233				14,11342				-	-	-	SO:0001623	5_prime_UTR_variant	0			AF124431	CCDS10564.1	16p13.11	2013-08-06	2013-08-06		ENSG00000072864	ENSG00000072864			17619	protein-coding gene	gene with protein product		609449	"""nudE nuclear distribution gene E homolog 1 (A. nidulans)"", ""nudE nuclear distribution E homolog 1 (A. nidulans)"""			10940388, 12427674	Standard	NM_017668		Approved	nudE, FLJ20101, NDE	uc002dds.3	Q9NXR1	OTTHUMG00000129885	ENST00000396353.2:c.-746->G	16.37:g.15737209_15737209dupG		Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AQ2	RNA	INS	-	NULL	ENST00000396353.2	37	NULL		16																																																																																			MIR484	-	-	ENSG00000202641		0.634	NDE1-202	KNOWN	basic|appris_principal	protein_coding	MIR484	HGNC	protein_coding		8	0.00	0	-	NM_017668		15737203	15737204	+1	no_errors	ENST00000365771	ensembl	human	known	69_37n	rna	4	33.33	2	INS	0.001:0.009	G
MORN1	79906	genome.wustl.edu	37	1	2303944	2303945	+	Nonsense_Mutation	DNP	GC	GC	AA			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	G|C	G|C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr1:2303944_2303945GC>AA	ENST00000378531.3	-	8	893_894	c.720_721GC>TT	c.(718-723)ctGCag>ctTTag	p.Q241*	MORN1_ENST00000378529.3_Nonsense_Mutation_p.Q241*|MORN1_ENST00000606372.1_5'UTR|RP4-740C4.9_ENST00000606642.1_RNA	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	241										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		CCGTGGTCCTGCAGCAGCTGAA	0.535																																						dbGAP											0																																										-	-	-	SO:0001587	stop_gained	0			AK024003	CCDS40.1, CCDS72688.1	1p36.33-p36.32	2008-02-05			ENSG00000116151	ENSG00000116151			25852	protein-coding gene	gene with protein product						12477932	Standard	XM_005244798		Approved	FLJ13941	uc001ajb.1	Q5T089	OTTHUMG00000001402	ENST00000378531.3:c.720_721delinsAA	1.37:g.2303944_2303945delinsAA	ENSP00000367792:p.Gln241*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKZ6|Q8WW30|Q9H852	Nonsense_Mutation|Silent	SNP	pfam_MORN,smart_MORN	p.Q241*|p.L240	ENST00000378531.3	37	c.721|c.720	CCDS40.1	1																																																																																			MORN1	-	NULL	ENSG00000116151		0.535	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MORN1	HGNC	protein_coding	OTTHUMT00000004055.1	22	0.00	0	G|C	NM_024848		2303944|2303945	2303944|2303945	-1	no_errors	ENST00000378531	ensembl	human	known	69_37n	nonsense|silent	16|17	23.81|22.73	5	SNP	0.940|0.953	A
N4BP2	55728	genome.wustl.edu	37	4	40104561	40104561	+	Missense_Mutation	SNP	A	A	G	rs146219712	byFrequency	TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr4:40104561A>G	ENST00000261435.6	+	4	1512	c.1096A>G	c.(1096-1098)Atg>Gtg	p.M366V		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	366	Pro-rich.				nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GTGGAATCCAATGATTCCTGC	0.512													A|||	2	0.000399361	0.0	0.0	5008	,	,		20387	0.002		0.0	False		,,,				2504	0.0					dbGAP											0													137.0	128.0	131.0					4																	40104561		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.1096A>G	4.37:g.40104561A>G	ENSP00000261435:p.Met366Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C	p.M366V	ENST00000261435.6	37	c.1096	CCDS3457.1	4	2|2	9.157509157509158E-4|9.157509157509158E-4	0|0	0.0|0.0	0|0	0.0|0.0	2|2	0.0034965034965034965|0.0034965034965034965	0|0	0.0|0.0	A|A	0.226|0.226	-1.024853|-1.024853	0.02061|0.02061	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|.	0.19105|.	2.17|.	5.83|5.83	1.99|1.99	0.26369|0.26369	.|.	0.857388|.	0.10468|.	N|.	0.671061|.	T|T	0.23410|0.23410	0.0566|0.0566	L|L	0.32530|0.32530	0.975|0.975	0.22737|0.22737	N|N	0.998796|0.998796	B;B|.	0.14438|.	0.01;0.006|.	B;B|.	0.14578|.	0.011;0.003|.	T|T	0.23332|0.23332	-1.0191|-1.0191	10|5	0.49607|.	T|.	0.09|.	-0.3375|-0.3375	0.9347|0.9347	0.01342|0.01342	0.4843:0.1282:0.1436:0.2439|0.4843:0.1282:0.1436:0.2439	.|.	366;366|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	V|S	366;286|12	ENSP00000261435:M366V|.	ENSP00000261435:M366V|.	M|N	+|+	1|2	0|0	N4BP2|N4BP2	39780956|39780956	0.434000|0.434000	0.25570|0.25570	0.835000|0.835000	0.33067|0.33067	0.014000|0.014000	0.08584|0.08584	0.017000|0.017000	0.13399|0.13399	0.113000|0.113000	0.18004|0.18004	-0.290000|-0.290000	0.09829|0.09829	ATG|AAT	N4BP2	-	NULL	ENSG00000078177		0.512	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP2	HGNC	protein_coding	OTTHUMT00000250458.2	222	0.00	0	A	NM_018177		40104561	40104561	+1	no_errors	ENST00000261435	ensembl	human	known	69_37n	missense	107	33.12	53	SNP	0.873	G
NPR3	4883	genome.wustl.edu	37	5	32712623	32712623	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr5:32712623C>G	ENST00000265074.8	+	1	1084	c.741C>G	c.(739-741)atC>atG	p.I247M	NPR3_ENST00000415685.2_Intron|NPR3_ENST00000415167.2_Missense_Mutation_p.I247M|NPR3_ENST00000434067.2_Intron	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	247					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TGGAAGACATCGTGCGCAATA	0.622																																						dbGAP											0													92.0	101.0	98.0					5																	32712623		1997	4185	6182	-	-	-	SO:0001583	missense	0				CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.741C>G	5.37:g.32712623C>G	ENSP00000265074:p.Ile247Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,prints_Ntpep_rcpt	p.I247M	ENST00000265074.8	37	c.741	CCDS56357.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.80|15.80	2.940811|2.940811	0.52972|0.52972	.|.	.|.	ENSG00000113389|ENSG00000113389	ENST00000265074;ENST00000415167|ENST00000507141	D;D|.	0.83591|.	-1.74;-1.74|.	4.44|4.44	1.53|1.53	0.23141|0.23141	Extracellular ligand-binding receptor (1);|.	0.354551|.	0.28821|.	N|.	0.014026|.	T|T	0.52435|0.52435	0.1734|0.1734	L|L	0.49513|0.49513	1.565|1.565	0.80722|0.80722	D|D	1|1	D;D|.	0.53619|.	0.961;0.961|.	P;P|.	0.56278|.	0.795;0.718|.	T|T	0.38607|0.38607	-0.9653|-0.9653	10|5	0.42905|.	T|.	0.14|.	-8.899|-8.899	5.0464|5.0464	0.14487|0.14487	0.1549:0.6222:0.1405:0.0824|0.1549:0.6222:0.1405:0.0824	.|.	247;247|.	P17342;Q60I31|.	ANPRC_HUMAN;.|.	M|G	247|63	ENSP00000265074:I247M;ENSP00000398028:I247M|.	ENSP00000265074:I247M|.	I|R	+|+	3|1	3|0	NPR3|NPR3	32748380|32748380	0.836000|0.836000	0.29430|0.29430	0.999000|0.999000	0.59377|0.59377	0.995000|0.995000	0.86356|0.86356	-0.117000|-0.117000	0.10708|0.10708	0.107000|0.107000	0.17824|0.17824	0.555000|0.555000	0.69702|0.69702	ATC|CGT	NPR3	-	pfam_ANF_lig-bd_rcpt	ENSG00000113389		0.622	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NPR3	HGNC	protein_coding	OTTHUMT00000317550.3	149	0.00	0	C	NM_000908		32712623	32712623	+1	no_errors	ENST00000265074	ensembl	human	known	69_37n	missense	66	24.72	22	SNP	1.000	G
OR8K1	390157	genome.wustl.edu	37	11	56114084	56114084	+	Silent	SNP	G	G	A			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr11:56114084G>A	ENST00000279783.2	+	1	664	c.570G>A	c.(568-570)ctG>ctA	p.L190L		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					GTATCCCTCTGATGTCCATAC	0.348										HNSCC(65;0.19)																												dbGAP											0													135.0	135.0	135.0					11																	56114084		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.570G>A	11.37:g.56114084G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EJB1|Q6IFC3|Q96RC1	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L190	ENST00000279783.2	37	c.570	CCDS31528.1	11																																																																																			OR8K1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000150261		0.348	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K1	HGNC	protein_coding	OTTHUMT00000391605.1	282	0.00	0	G	NM_001002907		56114084	56114084	+1	no_errors	ENST00000279783	ensembl	human	known	69_37n	silent	392	19.63	96	SNP	0.004	A
OR10G7	390265	genome.wustl.edu	37	11	123909455	123909455	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr11:123909455G>C	ENST00000330487.5	-	1	262	c.254C>G	c.(253-255)tCc>tGc	p.S85C		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GCCGCTTGGGGACACCAAGGT	0.537																																						dbGAP											0													185.0	198.0	194.0					11																	123909455		2200	4299	6499	-	-	-	SO:0001583	missense	0			AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.254C>G	11.37:g.123909455G>C	ENSP00000329689:p.Ser85Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFE8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S85C	ENST00000330487.5	37	c.254	CCDS31705.1	11	.	.	.	.	.	.	.	.	.	.	G	6.686	0.495202	0.12762	.	.	ENSG00000182634	ENST00000330487	T	0.79352	-1.26	3.39	3.39	0.38822	GPCR, rhodopsin-like superfamily (1);	0.376195	0.19808	N	0.105593	D	0.83399	0.5246	M	0.83118	2.625	0.09310	N	1	D	0.60575	0.988	P	0.60345	0.873	T	0.74383	-0.3683	10	0.62326	D	0.03	.	3.7622	0.08609	0.2103:0.2206:0.5691:0.0	.	85	Q8NGN6	O10G7_HUMAN	C	85	ENSP00000329689:S85C	ENSP00000329689:S85C	S	-	2	0	OR10G7	123414665	0.000000	0.05858	0.060000	0.19600	0.181000	0.23173	-0.027000	0.12371	1.910000	0.55303	0.455000	0.32223	TCC	OR10G7	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000182634		0.537	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G7	HGNC	protein_coding	OTTHUMT00000387271.1	442	0.00	0	G	NM_001004463		123909455	123909455	-1	no_errors	ENST00000330487	ensembl	human	known	69_37n	missense	210	33.54	106	SNP	0.001	C
OPCML	4978	genome.wustl.edu	37	11	133402219	133402219	+	Start_Codon_SNP	SNP	T	T	C			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr11:133402219T>C	ENST00000524381.1	-	1	195	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	OPCML_ENST00000529038.1_5'UTR	NM_001012393.1	NP_001012393.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	7					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)			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)		GGATGGTACATCTCGACGCTG	0.577																																						dbGAP											0													102.0	73.0	83.0					11																	133402219		2201	4297	6498	-	-	-	SO:0001582	initiator_codon_variant	0			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	ENST00000524381.1:c.1A>G	11.37:g.133402219T>C	ENSP00000434750:p.Met1Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.M1V	ENST00000524381.1	37	c.1	CCDS31722.1	11	.	.	.	.	.	.	.	.	.	.	T	14.83	2.653347	0.47362	.	.	ENSG00000183715	ENST00000524381;ENST00000416724	T	0.56103	0.48	5.19	5.19	0.71726	.	.	.	.	.	T	0.46639	0.1403	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44128	-0.9348	8	0.66056	D	0.02	.	13.6316	0.62198	0.0:0.0:0.0:1.0	.	1	Q7Z3W6	.	V	1	ENSP00000434750:M1V	ENSP00000390643:M1V	M	-	1	0	OPCML	132907429	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.722000	0.61958	1.976000	0.57569	0.528000	0.53228	ATG	OPCML	-	NULL	ENSG00000183715		0.577	OPCML-003	KNOWN	basic|CCDS	protein_coding	OPCML	HGNC	protein_coding	OTTHUMT00000393269.1	42	0.00	0	T	NM_001012393	Missense_Mutation	133402219	133402219	-1	no_errors	ENST00000524381	ensembl	human	known	69_37n	missense	19	26.92	7	SNP	1.000	C
OXNAD1	92106	genome.wustl.edu	37	3	16343316	16343316	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr3:16343316G>A	ENST00000285083.5	+	7	1081	c.616G>A	c.(616-618)Gag>Aag	p.E206K	OXNAD1_ENST00000605932.1_Missense_Mutation_p.E206K|OXNAD1_ENST00000606098.1_Missense_Mutation_p.E206K|OXNAD1_ENST00000544043.1_Missense_Mutation_p.E224K|OXNAD1_ENST00000435829.2_Missense_Mutation_p.E224K	NM_138381.3	NP_612390.1	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	206						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						AAATGGATATGAGATAGGAAC	0.443																																						dbGAP											0													78.0	78.0	78.0					3																	16343316		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832787	CCDS2630.1	3p25-p24	2010-03-19			ENSG00000154814	ENSG00000154814			25128	protein-coding gene	gene with protein product						12477932	Standard	NM_138381		Approved	MGC15763	uc003caw.3	Q96HP4	OTTHUMG00000129867	ENST00000285083.5:c.616G>A	3.37:g.16343316G>A	ENSP00000285083:p.Glu206Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2HYC7|Q59FA4	Missense_Mutation	SNP	pfam_OxRdtase_FAD/NAD-bd,pfam_Fe_red_NAD-bd_6,superfamily_Riboflavin_synthase-like_b-brl,prints_Phe_hydroxylase,prints_NADH-Cyt_B5_reductase	p.E224K	ENST00000285083.5	37	c.670	CCDS2630.1	3	.	.	.	.	.	.	.	.	.	.	G	6.478	0.456379	0.12283	.	.	ENSG00000154814	ENST00000285083;ENST00000544043	D;D	0.85702	-2.02;-2.02	5.67	1.62	0.23740	Oxidoreductase FAD/NAD(P)-binding (1);	0.479895	0.25878	N	0.027719	T	0.64294	0.2585	N	0.11154	0.105	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.47749	-0.9093	10	0.07990	T	0.79	-21.0018	6.7481	0.23472	0.4232:0.1161:0.4606:0.0	.	224;206	F5H620;Q96HP4	.;OXND1_HUMAN	K	206;224	ENSP00000285083:E206K;ENSP00000437967:E224K	ENSP00000285083:E206K	E	+	1	0	OXNAD1	16318320	0.139000	0.22563	0.002000	0.10522	0.699000	0.40488	0.695000	0.25527	0.264000	0.21851	-0.367000	0.07326	GAG	OXNAD1	-	pfam_OxRdtase_FAD/NAD-bd,pfam_Fe_red_NAD-bd_6	ENSG00000154814		0.443	OXNAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OXNAD1	HGNC	protein_coding	OTTHUMT00000252109.1	107	0.00	0	G	NM_138381		16343316	16343316	+1	no_errors	ENST00000544043	ensembl	human	known	69_37n	missense	99	18.85	23	SNP	0.002	A
PGBD5	79605	genome.wustl.edu	37	1	230492905	230492905	+	Missense_Mutation	SNP	G	G	A	rs534656022		TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr1:230492905G>A	ENST00000525115.1	-	2	310	c.287C>T	c.(286-288)aCg>aTg	p.T96M	PGBD5_ENST00000391860.1_Missense_Mutation_p.T50M|PGBD5_ENST00000321327.2_Missense_Mutation_p.T195M			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	96						integral component of membrane (GO:0016021)		p.T195M(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		CTTCATCTCCGTCAGCGTCAC	0.582																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											124.0	102.0	109.0					1																	230492905		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.287C>T	1.37:g.230492905G>A	ENSP00000431404:p.Thr96Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJF3|B9EK58|Q5SR37|Q6PJN2	Missense_Mutation	SNP	NULL	p.T195M	ENST00000525115.1	37	c.584		1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897235	0.33535	.	.	ENSG00000177614	ENST00000391860;ENST00000321327;ENST00000525115	T;T;T	0.17213	2.29;2.29;2.29	5.79	4.87	0.63330	.	0.691135	0.15361	N	0.266409	T	0.11281	0.0275	N	0.14661	0.345	0.09310	N	1	B	0.20459	0.045	B	0.16722	0.016	T	0.21586	-1.0241	10	0.38643	T	0.18	-6.9653	11.6278	0.51156	0.1415:0.0:0.8585:0.0	.	96	Q8N414	PGBD5_HUMAN	M	50;195;96	ENSP00000375733:T50M;ENSP00000322530:T195M;ENSP00000431404:T96M	ENSP00000322530:T195M	T	-	2	0	PGBD5	228559528	0.603000	0.26924	0.093000	0.20910	0.990000	0.78478	3.810000	0.55613	1.453000	0.47775	0.655000	0.94253	ACG	PGBD5	-	NULL	ENSG00000177614		0.582	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	PGBD5	HGNC	protein_coding	OTTHUMT00000382617.1	96	0.00	0	G	NM_024554		230492905	230492905	-1	no_errors	ENST00000321327	ensembl	human	known	69_37n	missense	167	12.89	25	SNP	0.046	A
PLCL1	5334	genome.wustl.edu	37	2	198948973	198948973	+	Silent	SNP	G	G	A			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr2:198948973G>A	ENST00000428675.1	+	2	1130	c.732G>A	c.(730-732)ttG>ttA	p.L244L	PLCL1_ENST00000437704.2_Silent_p.L146L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	244					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TCATGTGGTTGAAAACAGTGT	0.448																																						dbGAP											0													129.0	130.0	130.0					2																	198948973		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.732G>A	2.37:g.198948973G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MJ90|Q53SD3|Q7Z3S3	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.L244	ENST00000428675.1	37	c.732	CCDS2326.2	2																																																																																			PLCL1	-	NULL	ENSG00000115896		0.448	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL1	HGNC	protein_coding	OTTHUMT00000340210.1	354	0.00	0	G	NM_006226		198948973	198948973	+1	no_errors	ENST00000428675	ensembl	human	known	69_37n	silent	298	21.73	83	SNP	0.996	A
PMEPA1	56937	genome.wustl.edu	37	20	56227348	56227349	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr20:56227348_56227349insG	ENST00000341744.3	-	4	943_944	c.624_625insC	c.(622-627)cccagcfs	p.S209fs	PMEPA1_ENST00000347215.4_Frame_Shift_Ins_p.S174fs|PMEPA1_ENST00000395816.3_Frame_Shift_Ins_p.S159fs|PMEPA1_ENST00000395814.1_Frame_Shift_Ins_p.S159fs|PMEPA1_ENST00000265626.4_Frame_Shift_Ins_p.S159fs	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	209					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GAGTTACTGCTGGGGGGGCAGG	0.683																																						dbGAP											0									,,,	19,4245		0,19,2113					,,,	5.5	1.0			31	10,8236		0,10,4113	no	frameshift,frameshift,frameshift,frameshift	PMEPA1	NM_199171.1,NM_199170.1,NM_199169.1,NM_020182.3	,,,	0,29,6226	A1A1,A1R,RR		0.1213,0.4456,0.2318	,,,	,,,		29,12481				-	-	-	SO:0001589	frameshift_variant	0			AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"""solid tumor-associated 1"""	606564	"""transmembrane, prostate androgen induced RNA"""	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.625dupC	20.37:g.56227355_56227355dupG	ENSP00000345826:p.Ser209fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Frame_Shift_Ins	INS	NULL	p.S208fs	ENST00000341744.3	37	c.625_624	CCDS13463.1	20																																																																																			PMEPA1	-	NULL	ENSG00000124225		0.683	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMEPA1	HGNC	protein_coding	OTTHUMT00000079858.2	27	0.00	0	-	NM_020182		56227348	56227349	-1	no_errors	ENST00000341744	ensembl	human	known	69_37n	frame_shift_ins	109	10.66	13	INS	1.000:0.979	G
PPDPF	79144	genome.wustl.edu	37	20	62152893	62152893	+	Silent	SNP	C	C	T			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr20:62152893C>T	ENST00000370179.3	+	3	280	c.84C>T	c.(82-84)agC>agT	p.S28S	PPDPF_ENST00000370177.1_Silent_p.S28S|PPDPF_ENST00000473620.1_3'UTR	NM_024299.2	NP_077275.1	Q9H3Y8	PPDPF_HUMAN	pancreatic progenitor cell differentiation and proliferation factor	28					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)					kidney(1)|lung(2)|ovary(1)	4						CCAGCAACAGCTCCTGCAGCA	0.711																																						dbGAP											0													44.0	48.0	47.0					20																	62152893		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AL121829	CCDS13523.1	20q13.33	2013-07-23	2013-07-23	2009-06-04	ENSG00000125534	ENSG00000125534			16142	protein-coding gene	gene with protein product	"""exocrine differentiation and proliferation factor"""		"""chromosome 20 open reading frame 149"", ""pancreatic progenitor cell differentiation and proliferation factor homolog (zebrafish)"""	C20orf149			Standard	NM_024299		Approved	dJ697K14.9, exdpf	uc002yff.3	Q9H3Y8	OTTHUMG00000032978	ENST00000370179.3:c.84C>T	20.37:g.62152893C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5J2|Q4VXP1|Q9H3Y7	Silent	SNP	NULL	p.S28	ENST00000370179.3	37	c.84	CCDS13523.1	20																																																																																			PPDPF	-	NULL	ENSG00000125534		0.711	PPDPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPDPF	HGNC	protein_coding	OTTHUMT00000080149.1	20	0.00	0	C			62152893	62152893	+1	no_errors	ENST00000370177	ensembl	human	known	69_37n	silent	5	83.33	25	SNP	1.000	T
PSMD3	5709	genome.wustl.edu	37	17	38140650	38140650	+	Silent	SNP	C	C	G			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr17:38140650C>G	ENST00000264639.4	+	2	498	c.324C>G	c.(322-324)ctC>ctG	p.L108L	PSMD3_ENST00000541736.1_Intron	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	108					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					CACGCCGCCTCAACCACTATG	0.537																																					Ovarian(186;531 2051 6385 19668 48409)	dbGAP											0													95.0	84.0	87.0					17																	38140650		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D67025	CCDS11356.1	17q21.2	2010-07-23			ENSG00000108344	ENSG00000108344		"""Proteasome (prosome, macropain) subunits"""	9560	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 2"""	TSTA2		9017604	Standard	NM_002809		Approved	S3, P58, Rpn3	uc002htn.2	O43242	OTTHUMG00000133251	ENST00000264639.4:c.324C>G	17.37:g.38140650C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMW9|B4DT72|Q96EI2|Q9BQA4	Silent	SNP	pfam_26S_Psome_reg_C,pfam_PCI_dom,smart_PAM,smart_PCI_dom	p.L108	ENST00000264639.4	37	c.324	CCDS11356.1	17																																																																																			PSMD3	-	NULL	ENSG00000108344		0.537	PSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD3	HGNC	protein_coding	OTTHUMT00000257018.1	119	0.00	0	C	NM_002809		38140650	38140650	+1	no_errors	ENST00000264639	ensembl	human	known	69_37n	silent	1633	15.28	295	SNP	1.000	G
PTPRT	11122	genome.wustl.edu	37	20	41420103	41420103	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr20:41420103G>C	ENST00000373187.1	-	3	217	c.218C>G	c.(217-219)tCt>tGt	p.S73C	PTPRT_ENST00000356100.2_Missense_Mutation_p.S73C|PTPRT_ENST00000373201.1_Missense_Mutation_p.S73C|PTPRT_ENST00000373193.3_Missense_Mutation_p.S73C|PTPRT_ENST00000373198.4_Missense_Mutation_p.S73C|PTPRT_ENST00000373190.1_Missense_Mutation_p.S73C|PTPRT_ENST00000373184.1_Missense_Mutation_p.S73C			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	73	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CATCATGAAAGATCCTGGAGA	0.502																																						dbGAP											0													23.0	26.0	25.0					20																	41420103		1888	4120	6008	-	-	-	SO:0001583	missense	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.218C>G	20.37:g.41420103G>C	ENSP00000362283:p.Ser73Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.S73C	ENST00000373187.1	37	c.218	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346592	0.82022	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.02323	4.34;4.34;4.34;4.34;4.34;4.34;4.34	5.54	5.54	0.83059	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.000000	0.85682	D	0.000000	T	0.18593	0.0446	M	0.82323	2.585	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.967;0.981	T	0.00173	-1.1957	10	0.87932	D	0	.	19.478	0.94996	0.0:0.0:1.0:0.0	.	73;73	O14522-1;O14522	.;PTPRT_HUMAN	C	73	ENSP00000362286:S73C;ENSP00000362283:S73C;ENSP00000362289:S73C;ENSP00000348408:S73C;ENSP00000362294:S73C;ENSP00000362280:S73C;ENSP00000362297:S73C	ENSP00000348408:S73C	S	-	2	0	PTPRT	40853517	1.000000	0.71417	0.997000	0.53966	0.854000	0.48673	9.869000	0.99810	2.607000	0.88179	0.462000	0.41574	TCT	PTPRT	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,pfscan_MAM_dom	ENSG00000196090		0.502	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	89	0.00	0	G			41420103	41420103	-1	no_errors	ENST00000373198	ensembl	human	known	69_37n	missense	109	24.83	36	SNP	1.000	C
RAPGEF1	2889	genome.wustl.edu	37	9	134501378	134501378	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr9:134501378A>C	ENST00000372189.3	-	10	1705	c.1582T>G	c.(1582-1584)Ttt>Gtt	p.F528V	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.F546V|RAPGEF1_ENST00000372195.1_Missense_Mutation_p.F545V|RAPGEF1_ENST00000481260.1_5'Flank	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	528					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GGAGCAGTAAAATCACCCACA	0.522																																						dbGAP											0													94.0	96.0	95.0					9																	134501378		1965	4140	6105	-	-	-	SO:0001583	missense	0			BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.1582T>G	9.37:g.134501378A>C	ENSP00000361263:p.Phe528Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JUE4|Q8IV73	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.F546V	ENST00000372189.3	37	c.1636	CCDS48047.1	9	.	.	.	.	.	.	.	.	.	.	A	23.3	4.403193	0.83230	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000372191;ENST00000357686	T;T;T	0.26223	1.75;1.76;1.75	5.28	5.28	0.74379	.	0.050761	0.85682	D	0.000000	T	0.24699	0.0599	L	0.60455	1.87	0.53005	D	0.999964	P;B;P	0.41313	0.745;0.376;0.51	B;B;B	0.36567	0.218;0.114;0.228	T	0.04855	-1.0922	10	0.17832	T	0.49	.	14.4298	0.67240	1.0:0.0:0.0:0.0	.	545;528;546	Q68DL3;Q13905;Q13905-3	.;RPGF1_HUMAN;.	V	528;545;422;528;546;508;454;223;545	ENSP00000361269:F545V;ENSP00000361263:F528V;ENSP00000361264:F546V	ENSP00000266110:F528V	F	-	1	0	RAPGEF1	133491199	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.659000	0.91116	2.008000	0.58898	0.533000	0.62120	TTT	RAPGEF1	-	NULL	ENSG00000107263		0.522	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	RAPGEF1	HGNC	protein_coding	OTTHUMT00000054759.2	76	0.00	0	A	NM_005312		134501378	134501378	-1	no_errors	ENST00000372190	ensembl	human	known	69_37n	missense	99	31.72	46	SNP	1.000	C
RBBP6	5930	genome.wustl.edu	37	16	24567161	24567161	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr16:24567161G>C	ENST00000319715.4	+	6	889	c.457G>C	c.(457-459)Ggt>Cgt	p.G153R	RBBP6_ENST00000381039.3_Missense_Mutation_p.G153R|RBBP6_ENST00000348022.2_Missense_Mutation_p.G153R	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	153					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GAAACCTCTAGGTCCACCACC	0.403																																						dbGAP											0													81.0	78.0	79.0					16																	24567161		2197	4300	6497	-	-	-	SO:0001583	missense	0				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.457G>C	16.37:g.24567161G>C	ENSP00000317872:p.Gly153Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC	p.G153R	ENST00000319715.4	37	c.457	CCDS10621.1	16	.	.	.	.	.	.	.	.	.	.	G	31	5.079853	0.94050	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.76839	-1.05;-1.05;-1.05	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.85592	0.5732	L	0.48877	1.53	0.80722	D	1	B;D;D	0.89917	0.257;1.0;1.0	B;D;D	0.87578	0.04;0.998;0.998	D	0.85018	0.0910	10	0.51188	T	0.08	-18.2107	19.7727	0.96373	0.0:0.0:1.0:0.0	.	153;153;153	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	R	153	ENSP00000370427:G153R;ENSP00000317872:G153R;ENSP00000316291:G153R	ENSP00000317872:G153R	G	+	1	0	RBBP6	24474662	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.736000	0.68597	2.689000	0.91719	0.650000	0.86243	GGT	RBBP6	-	superfamily_Znf_CCHC	ENSG00000122257		0.403	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP6	HGNC	protein_coding	OTTHUMT00000214067.2	179	0.00	0	G	NM_006910		24567161	24567161	+1	no_errors	ENST00000319715	ensembl	human	known	69_37n	missense	336	16.38	66	SNP	1.000	C
RFX7	64864	genome.wustl.edu	37	15	56386801	56386801	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr15:56386801G>C	ENST00000559447.2	-	9	3105	c.2834C>G	c.(2833-2835)tCa>tGa	p.S945*	RFX7_ENST00000317318.6_Nonsense_Mutation_p.S1042*|RFX7_ENST00000423270.1_Nonsense_Mutation_p.S1042*|RFX7_ENST00000422057.1_Nonsense_Mutation_p.S945*			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	945					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AGGACTACTTGAGACAATGCT	0.483																																						dbGAP											0													114.0	107.0	109.0					15																	56386801		1993	4171	6164	-	-	-	SO:0001587	stop_gained	0					15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.2834C>G	15.37:g.56386801G>C	ENSP00000453281:p.Ser945*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Nonsense_Mutation	SNP	pfam_DNA-bd_RFX	p.S1042*	ENST00000559447.2	37	c.3125		15	.	.	.	.	.	.	.	.	.	.	G	38	7.125152	0.98081	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.0555	19.583	0.95478	0.0:0.0:1.0:0.0	.	.	.	.	X	945;1042;1042	.	ENSP00000313299:S1042X	S	-	2	0	RFX7	54174093	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.476000	0.97823	2.873000	0.98535	0.563000	0.77884	TCA	RFX7	-	NULL	ENSG00000181827		0.483	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	RFX7	HGNC	protein_coding	OTTHUMT00000418841.3	159	0.00	0	G	NM_022841		56386801	56386801	-1	no_errors	ENST00000423270	ensembl	human	known	69_37n	nonsense	130	29.73	55	SNP	1.000	C
RPL13AP3	645683	genome.wustl.edu	37	14	56233310	56233310	+	lincRNA	SNP	C	C	G			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr14:56233310C>G	ENST00000554458.1	+	0	75				RPL13AP3_ENST00000494676.1_RNA																							GTTTGCCCTTCTGGGGCGACA	0.547																																						dbGAP											0																																										-	-	-			0																															14.37:g.56233310C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000554458.1	37	NULL		14																																																																																			RPL13AP3	-	-	ENSG00000177350		0.547	RP11-813I20.2-001	KNOWN	basic	lincRNA	RPL13AP3	HGNC	lincRNA	OTTHUMT00000411474.1	40	0.00	0	C			56233310	56233310	+1	no_errors	ENST00000494676	ensembl	human	known	69_37n	rna	36	26.53	13	SNP	1.000	G
RYR2	6262	genome.wustl.edu	37	1	237870517	237870517	+	Silent	SNP	C	C	A			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr1:237870517C>A	ENST00000366574.2	+	68	10166	c.9849C>A	c.(9847-9849)atC>atA	p.I3283I	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.I3281I|RYR2_ENST00000542537.1_Silent_p.I3267I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3283					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TATTGAAAATCATATATAATA	0.458																																						dbGAP											0													30.0	30.0	30.0					1																	237870517		1897	4114	6011	-	-	-	SO:0001819	synonymous_variant	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.9849C>A	1.37:g.237870517C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15411|Q546N8|Q5T3P2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.I3281	ENST00000366574.2	37	c.9843	CCDS55691.1	1																																																																																			RYR2	-	NULL	ENSG00000198626		0.458	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	85	0.00	0	C	NM_001035		237870517	237870517	+1	no_errors	ENST00000360064	ensembl	human	known	69_37n	silent	174	15.53	32	SNP	1.000	A
RYR2	6262	genome.wustl.edu	37	1	237924301	237924301	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr1:237924301C>T	ENST00000366574.2	+	84	11766	c.11449C>T	c.(11449-11451)Ctt>Ttt	p.L3817F	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.L3823F|RYR2_ENST00000542537.1_Missense_Mutation_p.L3801F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3817					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGCTGAAGGTCTTGGGATGGT	0.373																																						dbGAP											0													102.0	97.0	98.0					1																	237924301		1869	4104	5973	-	-	-	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11449C>T	1.37:g.237924301C>T	ENSP00000355533:p.Leu3817Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.L3823F	ENST00000366574.2	37	c.11467	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.674130	0.88445	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.92249	-3.0;-3.0;-3.0	5.84	5.84	0.93424	.	0.000000	0.53938	U	0.000049	D	0.96522	0.8865	M	0.83012	2.62	0.80722	D	1	B;D	0.89917	0.167;1.0	B;D	0.78314	0.18;0.991	D	0.96464	0.9343	10	0.87932	D	0	.	20.1336	0.98010	0.0:1.0:0.0:0.0	.	791;3817	B4DGV4;Q92736	.;RYR2_HUMAN	F	3817;3823;3801;791	ENSP00000355533:L3817F;ENSP00000353174:L3823F;ENSP00000443798:L3801F	ENSP00000353174:L3823F	L	+	1	0	RYR2	235990924	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	3.842000	0.55858	2.767000	0.95098	0.591000	0.81541	CTT	RYR2	-	NULL	ENSG00000198626		0.373	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	39	0.00	0	C	NM_001035		237924301	237924301	+1	no_errors	ENST00000360064	ensembl	human	known	69_37n	missense	57	19.72	14	SNP	1.000	T
SEC23A	10484	genome.wustl.edu	37	14	39532596	39532596	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr14:39532596A>T	ENST00000307712.6	-	12	1847	c.1330T>A	c.(1330-1332)Tgt>Agt	p.C444S	SEC23A_ENST00000537403.1_Missense_Mutation_p.C242S|SEC23A_ENST00000536508.1_Missense_Mutation_p.C318S|SEC23A_ENST00000553925.1_5'Flank|SEC23A_ENST00000545328.2_Missense_Mutation_p.C415S	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	444					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TTCCACTGACATGTGCCACCT	0.328																																						dbGAP											0													124.0	110.0	115.0					14																	39532596		2203	4300	6503	-	-	-	SO:0001583	missense	0			X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"""Sec23 (S. cerevisiae) homolog A"""			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.1330T>A	14.37:g.39532596A>T	ENSP00000306881:p.Cys444Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5P4|B3KXI2|Q8NE16	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.C444S	ENST00000307712.6	37	c.1330	CCDS9668.1	14	.	.	.	.	.	.	.	.	.	.	A	3.914	-0.019530	0.07634	.	.	ENSG00000100934	ENST00000537403;ENST00000307712;ENST00000536508;ENST00000545328;ENST00000554645	T;T;T;T	0.81415	-0.66;-1.49;-0.66;-1.49	5.45	5.45	0.79879	Sec23/Sec24 beta-sandwich (1);	0.224065	0.47455	D	0.000223	T	0.57989	0.2091	N	0.03294	-0.36	0.58432	D	0.999991	B;B;B;B	0.13145	0.007;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.001;0.002;0.002	T	0.59177	-0.7503	10	0.02654	T	1	-17.1562	15.5165	0.75828	1.0:0.0:0.0:0.0	.	332;415;318;444	G3V531;F5H365;F5H6C4;Q15436	.;.;.;SC23A_HUMAN	S	242;444;318;415;332	ENSP00000444193:C242S;ENSP00000306881:C444S;ENSP00000437715:C318S;ENSP00000445393:C415S	ENSP00000306881:C444S	C	-	1	0	SEC23A	38602347	0.979000	0.34478	0.999000	0.59377	0.991000	0.79684	2.624000	0.46444	2.057000	0.61298	0.528000	0.53228	TGT	SEC23A	-	pfam_Sec23_24_beta_S	ENSG00000100934		0.328	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC23A	HGNC	protein_coding	OTTHUMT00000276728.2	64	0.00	0	A			39532596	39532596	-1	no_errors	ENST00000307712	ensembl	human	known	69_37n	missense	98	10.91	12	SNP	0.937	T
SERPINC1	462	genome.wustl.edu	37	1	173881074	173881075	+	Frame_Shift_Del	DEL	AG	AG	-	rs483352850		TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr1:173881074_173881075delAG	ENST00000367698.3	-	3	604_605	c.486_487delCT	c.(484-489)ctctatfs	p.Y163fs	SERPINC1_ENST00000494024.1_5'Flank	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	163					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	GCTTTTCGATAGAGTCGGCAGT	0.396																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"""Serine (or cysteine) peptidase inhibitors"""	775	protein-coding gene	gene with protein product	"""antithrombin III"", ""signal peptide antithrombin part 1"", ""coding sequence signal peptide antithrombin part 1"", ""antithrombin (aa 375-432)"""	107300	"""serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"""	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.486_487delCT	1.37:g.173881076_173881077delAG	ENSP00000356671:p.Tyr163fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Frame_Shift_Del	DEL	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.Y163fs	ENST00000367698.3	37	c.487_486	CCDS1313.1	1																																																																																			SERPINC1	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000117601		0.396	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINC1	HGNC	protein_coding	OTTHUMT00000090734.1	158	0.00	0	AG	NM_000488		173881074	173881075	-1	no_errors	ENST00000367698	ensembl	human	known	69_37n	frame_shift_del	294	17.42	62	DEL	1.000:1.000	-
SLC6A17	388662	genome.wustl.edu	37	1	110738234	110738234	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr1:110738234G>A	ENST00000331565.4	+	10	2004	c.1519G>A	c.(1519-1521)Gtg>Atg	p.V507M		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	507					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TGCATTCCTCGTGGGGCTGTT	0.612																																						dbGAP											0													93.0	82.0	86.0					1																	110738234		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.1519G>A	1.37:g.110738234G>A	ENSP00000330199:p.Val507Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.V507M	ENST00000331565.4	37	c.1519	CCDS30799.1	1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.761496	0.69763	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.76448	-1.02	5.65	4.73	0.59995	.	0.629214	0.16444	N	0.214193	T	0.55337	0.1914	L	0.41415	1.275	0.31008	N	0.719533	P	0.37864	0.61	B	0.33521	0.165	T	0.61618	-0.7026	10	0.87932	D	0	.	10.5029	0.44817	0.0713:0.1316:0.7971:0.0	.	507	Q9H1V8	S6A17_HUMAN	M	507	ENSP00000330199:V507M	ENSP00000330199:V507M	V	+	1	0	SLC6A17	110539757	0.978000	0.34361	1.000000	0.80357	0.998000	0.95712	0.859000	0.27858	2.657000	0.90304	0.655000	0.94253	GTG	SLC6A17	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000197106		0.612	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A17	HGNC	protein_coding	OTTHUMT00000032550.2	41	0.00	0	G	XM_371280		110738234	110738234	+1	no_errors	ENST00000331565	ensembl	human	known	69_37n	missense	41	25.45	14	SNP	0.952	A
ST18	9705	genome.wustl.edu	37	8	53084705	53084705	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr8:53084705T>G	ENST00000276480.7	-	10	1399	c.716A>C	c.(715-717)gAa>gCa	p.E239A		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	239					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTTGTCACCTTCAGTTTTTAT	0.428																																						dbGAP											0													66.0	72.0	70.0					8																	53084705		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.716A>C	8.37:g.53084705T>G	ENSP00000276480:p.Glu239Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RY1	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.E239A	ENST00000276480.7	37	c.716	CCDS6149.1	8	.	.	.	.	.	.	.	.	.	.	T	13.93	2.383565	0.42207	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.48836	0.83;0.8	5.91	5.91	0.95273	.	0.100791	0.64402	D	0.000002	T	0.43567	0.1253	M	0.63428	1.95	0.34419	D	0.697291	P	0.40083	0.702	B	0.34418	0.182	T	0.62562	-0.6828	10	0.49607	T	0.09	-28.3044	12.2308	0.54486	0.0:0.0:0.1418:0.8582	.	239	O60284	ST18_HUMAN	A	239	ENSP00000276480:E239A;ENSP00000428521:E239A	ENSP00000276480:E239A	E	-	2	0	ST18	53247258	1.000000	0.71417	0.890000	0.34922	0.684000	0.39900	4.219000	0.58561	2.266000	0.75297	0.533000	0.62120	GAA	ST18	-	NULL	ENSG00000147488		0.428	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST18	HGNC	protein_coding	OTTHUMT00000377867.1	146	0.00	0	T			53084705	53084705	-1	no_errors	ENST00000276480	ensembl	human	known	69_37n	missense	157	19.49	38	SNP	0.997	G
STAM	8027	genome.wustl.edu	37	10	17702520	17702520	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr10:17702520G>A	ENST00000377524.3	+	2	313	c.98G>A	c.(97-99)tGt>tAt	p.C33Y	STAM_ENST00000540523.1_5'UTR	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	33	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						TTGGATATCTGTGATAAAGTT	0.393																																						dbGAP											0													183.0	185.0	185.0					10																	17702520		2203	4300	6503	-	-	-	SO:0001583	missense	0			U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.98G>A	10.37:g.17702520G>A	ENSP00000366746:p.Cys33Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ99|D3DRU5|Q8N6D9	Missense_Mutation	SNP	pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox	p.C33Y	ENST00000377524.3	37	c.98	CCDS7122.1	10	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611256	0.87258	.	.	ENSG00000136738	ENST00000377524	T	0.26223	1.75	5.59	5.59	0.84812	VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.000000	0.85682	D	0.000000	T	0.60983	0.2311	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68804	-0.5312	10	0.87932	D	0	-15.8886	18.4334	0.90634	0.0:0.0:1.0:0.0	.	33	Q92783	STAM1_HUMAN	Y	33	ENSP00000366746:C33Y	ENSP00000366746:C33Y	C	+	2	0	STAM	17742526	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.011000	0.93618	2.650000	0.89964	0.650000	0.86243	TGT	STAM	-	pfam_VHS,superfamily_ENTH_VHS,smart_VHS_subgr,pfscan_VHS	ENSG00000136738		0.393	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAM	HGNC	protein_coding	OTTHUMT00000047039.1	331	0.00	0	G	NM_003473		17702520	17702520	+1	no_errors	ENST00000377524	ensembl	human	known	69_37n	missense	353	26.76	129	SNP	1.000	A
SYAP1	94056	genome.wustl.edu	37	X	16775411	16775411	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chrX:16775411G>C	ENST00000380155.3	+	8	1003	c.910G>C	c.(910-912)Gag>Cag	p.E304Q		NM_032796.3	NP_116185.2	Q96A49	SYAP1_HUMAN	synapse associated protein 1	304						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10	Hepatocellular(33;0.0997)					CAAAAAGCAAGAGGAGACAGC	0.378																																						dbGAP											0													104.0	97.0	100.0					X																	16775411		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF338728	CCDS14177.1	Xp22.31	2010-06-25	2010-06-25		ENSG00000169895	ENSG00000169895			16273	protein-coding gene	gene with protein product	"""SAP47 homolog (Drosophila)"""					11483580	Standard	NM_032796		Approved	FLJ14495, PRO3113	uc004cxp.3	Q96A49	OTTHUMG00000021192	ENST00000380155.3:c.910G>C	X.37:g.16775411G>C	ENSP00000369500:p.Glu304Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68CP1|Q96C60|Q96JQ6|Q96T20	Missense_Mutation	SNP	pfam_BSD,smart_BSD,pfscan_BSD	p.E304Q	ENST00000380155.3	37	c.910	CCDS14177.1	X	.	.	.	.	.	.	.	.	.	.	G	6.423	0.446090	0.12164	.	.	ENSG00000169895	ENST00000380155	.	.	.	4.88	3.12	0.35913	.	0.381500	0.32244	N	0.006380	T	0.44726	0.1307	L	0.51853	1.615	0.32106	N	0.589982	B;B;B	0.12630	0.006;0.001;0.003	B;B;B	0.11329	0.006;0.003;0.006	T	0.49652	-0.8917	9	0.38643	T	0.18	-1.4445	10.5918	0.45314	0.1601:0.0:0.8399:0.0	.	270;304;304	B4E1C9;Q96A49;B2RBI2	.;SYAP1_HUMAN;.	Q	304	.	ENSP00000369500:E304Q	E	+	1	0	SYAP1	16685332	1.000000	0.71417	0.069000	0.20011	0.255000	0.26057	3.768000	0.55295	0.596000	0.29794	0.508000	0.49915	GAG	SYAP1	-	NULL	ENSG00000169895		0.378	SYAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYAP1	HGNC	protein_coding	OTTHUMT00000055904.1	116	0.00	0	G	NM_032796		16775411	16775411	+1	no_errors	ENST00000380155	ensembl	human	known	69_37n	missense	215	19.78	53	SNP	0.547	C
TAF1B	9014	genome.wustl.edu	37	2	9989571	9989571	+	Frame_Shift_Del	DEL	A	A	-	rs528368939		TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr2:9989571delA	ENST00000263663.5	+	3	375	c.187delA	c.(187-189)aaafs	p.K65fs	TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	65	B-reader.				gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCGGGGGCTTAAAAAAAAAAA	0.333																																						dbGAP											0										139,495,3606		1,2,135,2,489,1491	20.0	22.0	21.0			1.7	0.9	2		23	207,946,7081		0,0,207,0,946,2964	no	codingComplex	TAF1B	NM_005680.2		1,2,342,2,1435,4455	A1A1,A1A2,A1R,A2A2,A2R,RR		14.0029,14.9528,14.3258			9989571	346,1441,10687	2194	4292	6486	-	-	-	SO:0001589	frameshift_variant	0			L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"""			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.187delA	2.37:g.9989571delA	ENSP00000263663:p.Lys65fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DI42|F8WD72|Q15574|Q8WVC3	Frame_Shift_Del	DEL	pfam_TF_Rrn7	p.N66fs	ENST00000263663.5	37	c.187	CCDS33143.1	2																																																																																			TAF1B	-	NULL	ENSG00000115750		0.333	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1B	HGNC	protein_coding	OTTHUMT00000323426.2	22	0.00	0	A	NM_005680		9989571	9989571	+1	no_errors	ENST00000263663	ensembl	human	known	69_37n	frame_shift_del	21	19.23	5	DEL	0.991	-
TBC1D22A	25771	genome.wustl.edu	37	22	47393596	47393596	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr22:47393596C>T	ENST00000337137.4	+	10	1358	c.1192C>T	c.(1192-1194)Cgg>Tgg	p.R398W	TBC1D22A_ENST00000407381.3_Missense_Mutation_p.R339W|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.R351W|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.R320W	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	398	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		ACTCGTGAGCCGGATTGATGG	0.537																																						dbGAP											0													67.0	65.0	66.0					22																	47393596		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.1192C>T	22.37:g.47393596C>T	ENSP00000336724:p.Arg398Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.R398W	ENST00000337137.4	37	c.1192	CCDS14078.1	22	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409466	0.83340	.	.	ENSG00000054611	ENST00000337137;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	5.66	5.66	0.87406	Rab-GAP/TBC domain (5);	0.000000	0.85682	D	0.000000	T	0.50582	0.1624	M	0.93594	3.435	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;1.0;0.998	T	0.63056	-0.6722	10	0.87932	D	0	.	18.3283	0.90260	0.0:1.0:0.0:0.0	.	398;320;339;398	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	W	398;339;320;351	ENSP00000336724:R398W;ENSP00000384036:R339W;ENSP00000347932:R320W;ENSP00000385634:R351W	ENSP00000336724:R398W	R	+	1	2	TBC1D22A	45772260	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.661000	0.54503	2.654000	0.90174	0.650000	0.86243	CGG	TBC1D22A	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000054611		0.537	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D22A	HGNC	protein_coding	OTTHUMT00000317600.3	41	0.00	0	C	NM_014346		47393596	47393596	+1	no_errors	ENST00000337137	ensembl	human	known	69_37n	missense	41	24.07	13	SNP	1.000	T
TMEM163	81615	genome.wustl.edu	37	2	135470791	135470791	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr2:135470791C>G	ENST00000281924.6	-	2	365	c.301G>C	c.(301-303)Gcc>Ccc	p.A101P		NM_030923.4	NP_112185.1	Q8TC26	TM163_HUMAN	transmembrane protein 163	101						cell junction (GO:0030054)|early endosome membrane (GO:0031901)|integral component of synaptic vesicle membrane (GO:0030285)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		ACCGCGAGGGCCAGGGTGACA	0.522																																						dbGAP											0													188.0	156.0	167.0					2																	135470791		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2172.1	2q21.3	2008-02-05			ENSG00000152128	ENSG00000152128			25380	protein-coding gene	gene with protein product						17623043	Standard	NM_030923		Approved	DKFZP566N034, SV31	uc002ttx.3	Q8TC26	OTTHUMG00000131713	ENST00000281924.6:c.301G>C	2.37:g.135470791C>G	ENSP00000281924:p.Ala101Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QM3|Q53SV7|Q69YH3|Q9UFG3	Missense_Mutation	SNP	NULL	p.A101P	ENST00000281924.6	37	c.301	CCDS2172.1	2	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427184	0.62733	.	.	ENSG00000152128	ENST00000281924;ENST00000537539	T	0.65549	-0.16	5.11	5.11	0.69529	.	0.141721	0.53938	D	0.000060	T	0.63838	0.2545	N	0.24115	0.695	0.38443	D	0.946744	D	0.67145	0.996	D	0.63877	0.919	T	0.67133	-0.5747	10	0.51188	T	0.08	.	12.0884	0.53710	0.0:0.9216:0.0:0.0784	.	101	Q8TC26	TM163_HUMAN	P	101;40	ENSP00000281924:A101P	ENSP00000281924:A101P	A	-	1	0	TMEM163	135187261	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.820000	0.55693	2.656000	0.90262	0.591000	0.81541	GCC	TMEM163	-	NULL	ENSG00000152128		0.522	TMEM163-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM163	HGNC	protein_coding	OTTHUMT00000254631.2	144	0.00	0	C	NM_030923		135470791	135470791	-1	no_errors	ENST00000281924	ensembl	human	known	69_37n	missense	102	24.44	33	SNP	1.000	G
TNPO1	3842	genome.wustl.edu	37	5	72144299	72144299	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr5:72144299delA	ENST00000337273.5	+	2	529	c.103delA	c.(103-105)accfs	p.T36fs	TNPO1_ENST00000454282.1_Frame_Shift_Del_p.T36fs|TNPO1_ENST00000506351.2_Frame_Shift_Del_p.T28fs|TNPO1_ENST00000513944.1_3'UTR|TNPO1_ENST00000523768.1_Frame_Shift_Del_p.T36fs|TNPO1_ENST00000447967.2_Frame_Shift_Del_p.T28fs	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	36					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		GTCCCCAGACACCACCATCCA	0.627																																						dbGAP											0													91.0	79.0	83.0					5																	72144299		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.103delA	5.37:g.72144299delA	ENSP00000336712:p.Thr36fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVC6|Q92957|Q92975	Frame_Shift_Del	DEL	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.T35fs	ENST00000337273.5	37	c.103	CCDS43329.1	5																																																																																			TNPO1	-	superfamily_ARM-type_fold	ENSG00000083312		0.627	TNPO1-001	KNOWN	basic|CCDS	protein_coding	TNPO1	HGNC	protein_coding	OTTHUMT00000218577.3	21	0.00	0	A	NM_002270		72144299	72144299	+1	no_errors	ENST00000337273	ensembl	human	known	69_37n	frame_shift_del	5	28.57	2	DEL	1.000	-
TOMM22	56993	genome.wustl.edu	37	22	39079782	39079782	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr22:39079782G>A	ENST00000216034.4	+	4	396	c.365G>A	c.(364-366)gGa>gAa	p.G122E	RP3-508I15.9_ENST00000444381.1_RNA|RP3-508I15.9_ENST00000431924.2_RNA|RP3-508I15.9_ENST00000412067.1_RNA	NM_020243.4	NP_064628.1	Q9NS69	TOM22_HUMAN	translocase of outer mitochondrial membrane 22 homolog (yeast)	122					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			large_intestine(1)|lung(2)	3	Melanoma(58;0.04)					ATACTTCTAGGACCTAACACA	0.468																																						dbGAP											0													141.0	130.0	134.0					22																	39079782		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040119	CCDS13975.1	22q12-q13	2010-07-29			ENSG00000100216	ENSG00000100216			18002	protein-coding gene	gene with protein product		607046				10982837, 10900208	Standard	NM_020243		Approved	TOM22	uc003awe.3	Q9NS69	OTTHUMG00000150991	ENST00000216034.4:c.365G>A	22.37:g.39079782G>A	ENSP00000216034:p.Gly122Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Tom22	p.G122E	ENST00000216034.4	37	c.365	CCDS13975.1	22	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719305	0.89205	.	.	ENSG00000100216	ENST00000216034	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.80019	0.4547	M	0.81802	2.56	0.80722	D	1	D	0.76494	0.999	D	0.67725	0.953	T	0.82589	-0.0382	9	0.87932	D	0	-17.2665	17.6203	0.88079	0.0:0.0:1.0:0.0	.	122	Q9NS69	TOM22_HUMAN	E	122	.	ENSP00000216034:G122E	G	+	2	0	TOMM22	37409728	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.072000	0.93986	2.590000	0.87494	0.563000	0.77884	GGA	TOMM22	-	NULL	ENSG00000100216		0.468	TOMM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM22	HGNC	protein_coding	OTTHUMT00000320842.1	94	0.00	0	G			39079782	39079782	+1	no_errors	ENST00000216034	ensembl	human	known	69_37n	missense	165	13.16	25	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7577526	7577526	+	Missense_Mutation	SNP	A	A	G	rs121912653		TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr17:7577526A>G	ENST00000269305.4	-	7	944	c.755T>C	c.(754-756)cTc>cCc	p.L252P	TP53_ENST00000445888.2_Missense_Mutation_p.L252P|TP53_ENST00000413465.2_Missense_Mutation_p.L252P|TP53_ENST00000359597.4_Missense_Mutation_p.L252P|TP53_ENST00000455263.2_Missense_Mutation_p.L252P|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.L252P	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	252	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in a sporadic cancer; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1978757}.|L -> V (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.L252P(10)|p.0?(8)|p.L252del(5)|p.L252_I254delLTI(4)|p.I251_T253delILT(4)|p.L252H(2)|p.T253_I255del(2)|p.P250_L252delPIL(2)|p.L252_T253delLT(1)|p.?(1)|p.P250_T253delPILT(1)|p.L252fs*92(1)|p.T253fs*11(1)|p.R249_T256delRPILTIIT(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)	GATGATGGTGAGGATGGGCCT	0.587		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)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	43	Deletion - In frame(20)|Substitution - Missense(12)|Whole gene deletion(8)|Insertion - Frameshift(1)|Deletion - Frameshift(1)|Unknown(1)	large_intestine(6)|stomach(6)|upper_aerodigestive_tract(4)|skin(4)|lung(4)|bone(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|peritoneum(2)|breast(2)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|oesophagus(1)|ovary(1)	GRCh37	CM900212	TP53	M	rs121912653						152.0	110.0	124.0					17																	7577526		2203	4300	6503	-	-	-	SO:0001583	missense	0	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.755T>C	17.37:g.7577526A>G	ENSP00000269305:p.Leu252Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.L252P	ENST00000269305.4	37	c.755	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	15.73	2.918717	0.52546	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99828	-6.99;-6.99;-6.99;-6.99;-6.99;-6.99;-6.99	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.198017	0.44097	D	0.000494	D	0.99785	0.9910	M	0.84948	2.725	0.80722	A	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.99;1.0;1.0;0.998	D	0.96924	0.9676	9	0.87932	D	0	-10.3195	12.3101	0.54924	1.0:0.0:0.0:0.0	.	252;252;252;252;252	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	P	252;252;252;252;252;252;241;120	ENSP00000410739:L252P;ENSP00000352610:L252P;ENSP00000269305:L252P;ENSP00000398846:L252P;ENSP00000391127:L252P;ENSP00000391478:L252P;ENSP00000425104:L120P	ENSP00000269305:L252P	L	-	2	0	TP53	7518251	1.000000	0.71417	0.996000	0.52242	0.390000	0.30446	7.335000	0.79234	2.074000	0.62210	0.379000	0.24179	CTC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.587	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	79	0.00	0	A	NM_000546		7577526	7577526	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	54	54.62	65	SNP	1.000	G
TRIM55	84675	genome.wustl.edu	37	8	67064633	67064633	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr8:67064633A>C	ENST00000315962.4	+	8	1380	c.1007A>C	c.(1006-1008)gAa>gCa	p.E336A	TRIM55_ENST00000353317.5_Missense_Mutation_p.E336A|TRIM55_ENST00000276573.7_Missense_Mutation_p.E336A|TRIM55_ENST00000350034.4_Intron	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	336					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			gaagaagaagaagaaggcgga	0.418																																						dbGAP											0													26.0	24.0	25.0					8																	67064633		2203	4299	6502	-	-	-	SO:0001583	missense	0			AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.1007A>C	8.37:g.67064633A>C	ENSP00000323913:p.Glu336Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.E336A	ENST00000315962.4	37	c.1007	CCDS6184.1	8	.	.	.	.	.	.	.	.	.	.	A	11.42	1.632363	0.29068	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573	T;T;T	0.34275	1.39;1.46;1.37	4.11	1.64	0.23874	.	0.396574	0.31347	N	0.007812	T	0.27098	0.0664	L	0.54323	1.7	0.80722	D	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.08055	0.001;0.001;0.003	T	0.06679	-1.0813	10	0.33940	T	0.23	.	4.388	0.11327	0.6926:0.201:0.1063:0.0	.	336;336;336	Q9BYV6-2;Q9BYV6;Q9BYV6-3	.;TRI55_HUMAN;.	A	336	ENSP00000323913:E336A;ENSP00000297348:E336A;ENSP00000276573:E336A	ENSP00000276573:E336A	E	+	2	0	TRIM55	67227187	0.017000	0.18338	0.904000	0.35570	0.947000	0.59692	-1.044000	0.03532	0.356000	0.24157	0.529000	0.55759	GAA	TRIM55	-	NULL	ENSG00000147573		0.418	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM55	HGNC	protein_coding	OTTHUMT00000378921.1	126	0.00	0	A	NM_184085		67064633	67064633	+1	no_errors	ENST00000315962	ensembl	human	known	69_37n	missense	106	43.98	84	SNP	0.937	C
TTLL11	158135	genome.wustl.edu	37	9	124751816	124751816	+	Silent	SNP	G	G	C			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr9:124751816G>C	ENST00000373776.3	-	4	1384	c.1197C>G	c.(1195-1197)ccC>ccG	p.P399P	TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000321582.5_Silent_p.P399P	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	399	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						AAATCTCTAAGGGGTCTAAGG	0.473																																						dbGAP											0													79.0	83.0	82.0					9																	124751816		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"""Tubulin tyrosine ligase-like family"""	18113	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 20"""	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.1197C>G	9.37:g.124751816G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Tub_tyr_ligase	p.P399	ENST00000373776.3	37	c.1197	CCDS6834.2	9																																																																																			TTLL11	-	pfam_Tub_tyr_ligase	ENSG00000175764		0.473	TTLL11-004	KNOWN	basic|CCDS	protein_coding	TTLL11	HGNC	protein_coding	OTTHUMT00000053907.1	223	0.00	0	G	XM_088486		124751816	124751816	-1	no_errors	ENST00000321582	ensembl	human	known	69_37n	silent	337	17.56	72	SNP	0.998	C
USP19	10869	genome.wustl.edu	37	3	49148221	49148221	+	Silent	SNP	G	G	T			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr3:49148221G>T	ENST00000398888.2	-	23	3630	c.3312C>A	c.(3310-3312)atC>atA	p.I1104I	USP19_ENST00000417901.1_Silent_p.I1207I|USP19_ENST00000434032.2_Silent_p.I1205I|USP19_ENST00000453664.1_Silent_p.I1195I|USP19_ENST00000398892.3_Silent_p.I1144I|USP19_ENST00000398896.1_Silent_p.I912I|USP19_ENST00000398898.2_Silent_p.I1144I	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	1104	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGAGCTGCACGATGAGAACAT	0.527																																						dbGAP											0													97.0	102.0	101.0					3																	49148221		2069	4222	6291	-	-	-	SO:0001819	synonymous_variant	0			AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.3312C>A	3.37:g.49148221G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Silent	SNP	pfam_DUF1872,pfam_Peptidase_C19,pfam_Znf_MYND,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain,pfscan_Znf_MYND,pfscan_Peptidase_C19	p.I1104	ENST00000398888.2	37	c.3312	CCDS43090.1	3																																																																																			USP19	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000172046		0.527	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	USP19	HGNC	protein_coding	OTTHUMT00000257721.1	67	0.00	0	G	NM_006677		49148221	49148221	-1	no_errors	ENST00000398888	ensembl	human	known	69_37n	silent	86	21.82	24	SNP	0.679	T
USP21	27005	genome.wustl.edu	37	1	161133349	161133349	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr1:161133349G>T	ENST00000289865.8	+	7	1275	c.1054G>T	c.(1054-1056)Gat>Tat	p.D352Y	PPOX_ENST00000432542.2_5'Flank|PPOX_ENST00000535223.1_5'Flank|PPOX_ENST00000544598.1_5'Flank|USP21_ENST00000368002.3_Missense_Mutation_p.D352Y|PPOX_ENST00000352210.5_5'Flank|USP21_ENST00000368001.1_Missense_Mutation_p.D352Y|USP21_ENST00000493054.1_3'UTR|PPOX_ENST00000367999.4_5'Flank	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	352	USP.				histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TGGTAGTGATGATGACCGAGC	0.517																																						dbGAP											0													148.0	121.0	131.0					1																	161133349		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.1054G>T	1.37:g.161133349G>T	ENSP00000289865:p.Asp352Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.D352Y	ENST00000289865.8	37	c.1054	CCDS30920.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001445	0.74818	.	.	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	T;T;T	0.02837	4.14;4.14;4.14	5.43	5.43	0.79202	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.545801	0.13772	U	0.363801	T	0.06508	0.0167	M	0.80847	2.515	0.39819	D	0.972815	P	0.48503	0.911	P	0.48598	0.583	T	0.06232	-1.0838	10	0.72032	D	0.01	.	18.0069	0.89212	0.0:0.0:1.0:0.0	.	352	Q9UK80	UBP21_HUMAN	Y	352	ENSP00000356981:D352Y;ENSP00000289865:D352Y;ENSP00000356980:D352Y	ENSP00000289865:D352Y	D	+	1	0	USP21	159399973	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.804000	0.55568	2.527000	0.85204	0.561000	0.74099	GAT	USP21	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000143258		0.517	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	USP21	HGNC	protein_coding	OTTHUMT00000080801.1	87	0.00	0	G			161133349	161133349	+1	no_errors	ENST00000289865	ensembl	human	known	69_37n	missense	98	33.33	49	SNP	1.000	T
USP54	159195	genome.wustl.edu	37	10	75258501	75258501	+	Silent	SNP	A	A	G			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr10:75258501A>G	ENST00000339859.4	-	23	5041	c.4941T>C	c.(4939-4941)taT>taC	p.Y1647Y	USP54_ENST00000394811.2_Silent_p.Y688Y|PPP3CB_ENST00000360663.5_5'Flank|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000595935.1_RNA|RP11-137L10.6_ENST00000442133.4_RNA|RP11-137L10.6_ENST00000600887.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|PPP3CB_ENST00000545874.1_5'Flank|PPP3CB_ENST00000342558.3_5'Flank|USP54_ENST00000408019.1_Silent_p.Y1647Y|RP11-137L10.6_ENST00000600206.1_RNA|PPP3CB_ENST00000394828.2_5'Flank|RP11-137L10.6_ENST00000595069.1_RNA|USP54_ENST00000422491.2_Silent_p.Y782Y|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000600607.1_RNA|PPP3CB_ENST00000394829.2_5'Flank|USP54_ENST00000428547.1_Silent_p.Y1497Y|PPP3CB_ENST00000394822.2_5'Flank|RP11-137L10.6_ENST00000596320.1_RNA|RP11-137L10.6_ENST00000422977.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1647					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					AGTGGGAGGCATAACTGCTTT	0.537																																					Colon(195;880 2046 8854 25025 38456)	dbGAP											0													119.0	111.0	114.0					10																	75258501		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.4941T>C	10.37:g.75258501A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Silent	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.Y1647	ENST00000339859.4	37	c.4941	CCDS7329.2	10																																																																																			USP54	-	NULL	ENSG00000166348		0.537	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP54	HGNC	protein_coding	OTTHUMT00000316563.2	174	0.00	0	A	NM_152586		75258501	75258501	-1	no_errors	ENST00000339859	ensembl	human	known	69_37n	silent	190	20.17	48	SNP	0.894	G
ZBTB41	360023	genome.wustl.edu	37	1	197169214	197169214	+	Silent	SNP	G	G	A			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr1:197169214G>A	ENST00000367405.4	-	1	458	c.390C>T	c.(388-390)caC>caT	p.H130H	ZBTB41_ENST00000467322.1_5'UTR|CRB1_ENST00000535699.1_5'Flank	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	130	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						AATGTGTTACGTGATCCAGGG	0.358																																						dbGAP											0													66.0	64.0	65.0					1																	197169214		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.390C>T	1.37:g.197169214G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Silent	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.H130	ENST00000367405.4	37	c.390	CCDS30960.1	1																																																																																			ZBTB41	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000177888		0.358	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB41	HGNC	protein_coding	OTTHUMT00000088249.2	154	0.00	0	G	NM_194314		197169214	197169214	-1	no_errors	ENST00000367405	ensembl	human	known	69_37n	silent	319	20.65	83	SNP	0.991	A
WDR26	80232	genome.wustl.edu	37	1	224592164	224592164	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr1:224592164C>G	ENST00000414423.2	-	8	1460	c.1267G>C	c.(1267-1269)Gac>Cac	p.D423H	WDR26_ENST00000295024.6_Missense_Mutation_p.D276H|WDR26_ENST00000366852.2_3'UTR	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	423						cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		TCAGAGCAGTCATCTGGGCCA	0.393																																						dbGAP											0													129.0	118.0	122.0					1																	224592164		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"""WD repeat domain containing"""	21208	protein-coding gene	gene with protein product	"""GID complex subunit 7 homolog (S. cerevisiae)"""						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.1267G>C	1.37:g.224592164C>G	ENSP00000408108:p.Asp423His	Somatic		WXS	Illumina GAIIx	Phase_IV	A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D423H	ENST00000414423.2	37	c.1267	CCDS31037.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.1|27.1	4.800001|4.800001	0.90538|0.90538	.|.	.|.	ENSG00000162923|ENSG00000162923	ENST00000414423;ENST00000295024|ENST00000480676	T;T|.	0.59772|.	0.24;0.24|.	4.65|4.65	4.65|4.65	0.58169|0.58169	.|.	0.093893|.	0.64402|.	D|.	0.000001|.	T|.	0.37652|.	0.1011|.	N|N	0.04116|0.04116	-0.275|-0.275	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.66716|.	0.946|.	T|.	0.29731|.	-1.0002|.	10|.	0.35671|.	T|.	0.21|.	.|.	17.7113|17.7113	0.88322|0.88322	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	407|.	Q9H7D7-2|.	.|.	H|S	423;276|56	ENSP00000408108:D423H;ENSP00000295024:D276H|.	ENSP00000295024:D276H|.	D|X	-|-	1|2	0|2	WDR26|WDR26	222658787|222658787	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.625000|7.625000	0.83145|0.83145	2.430000|2.430000	0.82344|0.82344	0.484000|0.484000	0.47621|0.47621	GAC|TGA	WDR26	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000162923		0.393	WDR26-001	KNOWN	basic|CCDS	protein_coding	WDR26	HGNC	protein_coding	OTTHUMT00000091760.2	198	0.50	1	C	NM_025160		224592164	224592164	-1	no_errors	ENST00000414423	ensembl	human	known	69_37n	missense	360	14.86	63	SNP	1.000	G
ZFP62	643836	genome.wustl.edu	37	5	180275984	180275984	+	Silent	SNP	C	C	T			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr5:180275984C>T	ENST00000502412.1	-	2	2568	c.2511G>A	c.(2509-2511)aaG>aaA	p.K837K	ZFP62_ENST00000512132.1_Silent_p.K804K|ZFP62_ENST00000359141.6_Silent_p.K777K|ZFP62_ENST00000506377.1_Intron	NM_001172638.1	NP_001166109.1	Q8NB50	ZFP62_HUMAN	ZFP62 zinc finger protein	837					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(2)|pancreas(1)	4	all_cancers(89;4.01e-05)|all_epithelial(37;4.69e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00469)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTATGGCTTCTTTCCAGTGT	0.413																																						dbGAP											0													111.0	91.0	97.0					5																	180275984		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK002206	CCDS47357.1, CCDS47357.2, CCDS54955.1	5q35.3	2013-01-08	2012-11-27			ENSG00000196670		"""Zinc fingers, C2H2-type"""	23241	protein-coding gene	gene with protein product		610281	"""zinc finger protein 62 homolog (mouse)"", ""zinc finger protein 62"""			8808410	Standard	NM_152283		Approved	FLJ34231, ZET, ZNF755	uc011dhf.2	Q8NB50		ENST00000502412.1:c.2511G>A	5.37:g.180275984C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIP6|B4E0N3|B5MDX6|B7ZVZ2|B9EIP6|E9PFT8|J3QTA9	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K804	ENST00000502412.1	37	c.2412	CCDS54955.1	5																																																																																			ZFP62	-	pfscan_Znf_C2H2	ENSG00000196670		0.413	ZFP62-002	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ZFP62	HGNC	protein_coding	OTTHUMT00000368386.2	10	0.00	0	C	NM_152283		180275984	180275984	-1	no_errors	ENST00000512132	ensembl	human	known	69_37n	silent	8	38.46	5	SNP	1.000	T
ZKSCAN4	387032	genome.wustl.edu	37	6	28213028	28213028	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr6:28213028G>C	ENST00000377294.2	-	5	1747	c.1504C>G	c.(1504-1506)Ctt>Gtt	p.L502V	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.L347V	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	502					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						TGTTCAATAAGACTTCTATTC	0.428																																						dbGAP											0													120.0	116.0	117.0					6																	28213028		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.1504C>G	6.37:g.28213028G>C	ENSP00000366509:p.Leu502Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RE32|Q5U7L4	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.L502V	ENST00000377294.2	37	c.1504	CCDS4647.1	6	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960501	0.53400	.	.	ENSG00000187626	ENST00000377294;ENST00000423974	T;T	0.52983	0.64;0.64	5.06	2.3	0.28687	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.56978	0.2022	M	0.83012	2.62	0.18873	N	0.999988	D	0.76494	0.999	D	0.87578	0.998	T	0.46456	-0.9190	9	0.87932	D	0	.	10.0222	0.42051	0.2417:0.0:0.7583:0.0	.	502	Q969J2	ZKSC4_HUMAN	V	502;347	ENSP00000366509:L502V;ENSP00000401978:L347V	ENSP00000366509:L502V	L	-	1	0	ZKSCAN4	28321007	1.000000	0.71417	0.510000	0.27712	0.949000	0.60115	3.072000	0.50049	0.811000	0.34303	0.655000	0.94253	CTT	ZKSCAN4	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000187626		0.428	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN4	HGNC	protein_coding	OTTHUMT00000040179.1	268	0.00	0	G	NM_019110		28213028	28213028	-1	no_errors	ENST00000377294	ensembl	human	known	69_37n	missense	286	24.34	92	SNP	0.355	C
ZNF844	284391	genome.wustl.edu	37	19	12187501	12187501	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0FV-01A-11W-A019-09	TCGA-AN-A0FV-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c70259c1-f561-43d7-9829-6852815baa87	6cbd9cc2-e405-49d5-b512-cae7c4460f19	g.chr19:12187501G>C	ENST00000439326.3	+	4	1741	c.1566G>C	c.(1564-1566)atG>atC	p.M522I	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	522					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TCAAATGCATGAAAGGACTCA	0.413																																						dbGAP											0													94.0	86.0	88.0					19																	12187501		692	1591	2283	-	-	-	SO:0001583	missense	0			AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1566G>C	19.37:g.12187501G>C	ENSP00000392024:p.Met522Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JPI8	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.M522I	ENST00000439326.3	37	c.1566	CCDS45985.1	19	.	.	.	.	.	.	.	.	.	.	G	7.386	0.629887	0.14257	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.04706	3.57	2.31	-1.94	0.07571	.	.	.	.	.	T	0.02727	0.0082	N	0.16016	0.355	0.09310	N	0.999992	B	0.22080	0.064	B	0.15052	0.012	T	0.43475	-0.9389	9	0.87932	D	0	.	4.3301	0.11059	0.3066:0.3856:0.3079:0.0	.	522	Q08AG5	ZN844_HUMAN	I	522	ENSP00000392024:M522I	ENSP00000392024:M522I	M	+	3	0	ZNF844	12048501	0.000000	0.05858	0.001000	0.08648	0.430000	0.31655	-2.594000	0.00896	-0.072000	0.12864	0.197000	0.17608	ATG	ZNF844	-	NULL	ENSG00000223547		0.413	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF844	HGNC	protein_coding	OTTHUMT00000344086.2	166	0.00	0	G			12187501	12187501	+1	no_errors	ENST00000439326	ensembl	human	known	69_37n	missense	202	29.12	83	SNP	0.023	C
