#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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	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	i_gene_name_source	i_gene_type	i_havana_transcript	i_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_VAF	i_tumor_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
ABHD16B	140701	genome.wustl.edu	37	20	62494063	62494063	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr20:62494063C>A	ENST00000369916.3	+	1	1498	c.1170C>A	c.(1168-1170)gaC>gaA	p.D390E	C20ORF135_ENST00000601296.1_5'Flank|TPD52L2_ENST00000369927.4_5'Flank|TPD52L2_ENST00000358548.4_5'Flank|TPD52L2_ENST00000351424.4_5'Flank|TPD52L2_ENST00000346249.4_5'Flank|TPD52L2_ENST00000217121.5_5'Flank|TPD52L2_ENST00000352482.4_5'Flank|TPD52L2_ENST00000348257.5_5'Flank	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	390							hydrolase activity (GO:0016787)			endometrium(2)|kidney(1)|lung(3)	6						ACCGCGTGGACGAGGACTGGT	0.721																																																	0													9.0	9.0	9.0					20																	62494063		2016	3830	5846	SO:0001583	missense	0				CCDS13539.1	20q13.33	2013-01-17	2010-12-09	2010-12-09	ENSG00000183260	ENSG00000183260		"""Abhydrolase domain containing"""	16128	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 135"""	C20orf135			Standard	NM_080622		Approved	dJ591C20.1	uc002ygx.1	Q9H3Z7	OTTHUMG00000033010	ENST00000369916.3:c.1170C>A	20.37:g.62494063C>A	ENSP00000358932:p.Asp390Glu			Missense_Mutation	SNP	pfam_AB_hydrolase_1	p.D390E	ENST00000369916.3	37	c.1170	CCDS13539.1	20	.	.	.	.	.	.	.	.	.	.	C	3.026	-0.200746	0.06219	.	.	ENSG00000183260	ENST00000369916	T	0.46451	0.87	5.04	-6.22	0.02058	.	0.122187	0.52532	D	0.000066	T	0.25082	0.0609	L	0.31294	0.92	0.36097	D	0.843857	B	0.18166	0.026	B	0.25614	0.062	T	0.17930	-1.0353	10	0.15499	T	0.54	-10.5834	14.3602	0.66766	0.0:0.6847:0.0:0.3153	.	390	Q9H3Z7	ABHGB_HUMAN	E	390	ENSP00000358932:D390E	ENSP00000358932:D390E	D	+	3	2	ABHD16B	61964507	0.380000	0.25131	0.115000	0.21578	0.161000	0.22273	-0.727000	0.04931	-1.213000	0.02617	-0.218000	0.12543	GAC	ABHD16B	-	NULL	ENSG00000183260		0.721	ABHD16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD16B	HGNC	protein_coding	OTTHUMT00000080254.1	-	0.00	17	0	C			62494063	+1	tier1	-	no_errors	ENST00000369916	ensembl	human	known	74_37	missense	100.00	0	2	SNP	0.271	A
ABI2	10152	genome.wustl.edu	37	2	204259464	204259464	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:204259464C>A	ENST00000422511.2	+	6	651	c.620C>A	c.(619-621)cCa>cAa	p.P207Q	ABI2_ENST00000261016.6_Missense_Mutation_p.P156Q|ABI2_ENST00000261018.7_Intron|RAPH1_ENST00000457812.1_3'UTR|ABI2_ENST00000424558.1_Missense_Mutation_p.P201Q|ABI2_ENST00000295851.5_Missense_Mutation_p.P207Q|ABI2_ENST00000261017.5_Missense_Mutation_p.P201Q|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000430418.1_Intron			Q9NYB9	ABI2_HUMAN	abl-interactor 2	207	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						GTGCGTCCTCCAGTGGTACCA	0.483																																																	0													149.0	134.0	139.0					2																	204259464		2203	4300	6503	SO:0001583	missense	0			AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443			24011	protein-coding gene	gene with protein product		606442				7590236, 10964520	Standard	XM_005246217		Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000422511.2:c.620C>A	2.37:g.204259464C>A	ENSP00000396249:p.Pro207Gln		B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Missense_Mutation	SNP	pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,pfscan_T_SNARE_dom,prints_SH3_domain,prints_p67phox	p.P207Q	ENST00000422511.2	37	c.620		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.148356|5.148356	0.94603|0.94603	.|.	.|.	ENSG00000138443|ENSG00000138443	ENST00000295851;ENST00000261017;ENST00000424558;ENST00000261016;ENST00000417864;ENST00000422511|ENST00000451591;ENST00000454023	D;D;D;D;D;D|.	0.94828|.	-3.53;-3.53;-3.53;-3.53;-3.53;-3.53|.	6.05|6.05	6.05|6.05	0.98169|0.98169	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78355|0.78355	0.4270|0.4270	M|M	0.75777|0.75777	2.31|2.31	0.80722|0.80722	D|D	1|1	P;D;D;P;D;D|.	0.89917|.	0.952;1.0;0.999;0.928;0.999;1.0|.	P;D;D;P;D;D|.	0.97110|.	0.521;0.999;0.996;0.79;0.994;1.0|.	T|T	0.75637|0.75637	-0.3249|-0.3249	10|5	0.87932|.	D|.	0|.	-8.1289|-8.1289	20.6013|20.6013	0.99457|0.99457	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	42;145;201;156;207;201|.	B7Z612;B7Z836;Q9NYB9-4;Q9NYB9-3;Q9NYB9;Q9NYB9-2|.	.;.;.;.;ABI2_HUMAN;.|.	Q|K	207;201;201;156;207;207|73;48	ENSP00000295851:P207Q;ENSP00000261017:P201Q;ENSP00000391433:P201Q;ENSP00000261016:P156Q;ENSP00000414703:P207Q;ENSP00000396249:P207Q|.	ENSP00000261016:P156Q|.	P|Q	+|+	2|1	0|0	ABI2|ABI2	203967709|203967709	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.625000|7.625000	0.83145|0.83145	2.878000|2.878000	0.98634|0.98634	0.650000|0.650000	0.86243|0.86243	CCA|CAG	ABI2	-	NULL	ENSG00000138443		0.483	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	ABI2	HGNC	protein_coding	OTTHUMT00000336179.2	-	0.00	60	0	C	NM_005759		204259464	+1	tier1	-	no_errors	ENST00000295851	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	A
ACBD5	91452	genome.wustl.edu	37	10	27504518	27504518	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:27504518G>T	ENST00000375888.1	-	8	973	c.909C>A	c.(907-909)agC>agA	p.S303R	ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375901.1_Missense_Mutation_p.S185R|ACBD5_ENST00000375897.3_Missense_Mutation_p.S117R|ACBD5_ENST00000396271.3_Missense_Mutation_p.S294R|ACBD5_ENST00000375905.4_Missense_Mutation_p.S259R			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	303					peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)	p.S294S(1)|p.S259S(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TGTCTGAATCGCTTGTCAAAT	0.318																																																	2	Substitution - coding silent(2)	endometrium(2)											136.0	116.0	123.0					10																	27504518		2201	4298	6499	SO:0001583	missense	0			AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 5"""			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.909C>A	10.37:g.27504518G>T	ENSP00000365049:p.Ser303Arg		B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Missense_Mutation	SNP	pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,pirsf_M-assoc_diazepam-bd-inh,prints_Acyl-CoA-binding_protein	p.S303R	ENST00000375888.1	37	c.909		10	.	.	.	.	.	.	.	.	.	.	G	16.29	3.082083	0.55861	.	.	ENSG00000107897	ENST00000375889;ENST00000396271;ENST00000375905;ENST00000375901;ENST00000375897;ENST00000375888	D;T;T;T;T	0.83992	-1.79;0.84;0.35;0.71;1.48	5.01	3.86	0.44501	.	0.072922	0.85682	D	0.000000	D	0.89093	0.6617	M	0.78637	2.42	0.58432	D	0.999998	D;D;D;D	0.65815	0.995;0.976;0.985;0.985	D;D;D;P	0.67725	0.953;0.927;0.924;0.899	D	0.87687	0.2551	10	0.45353	T	0.12	-4.6202	10.5888	0.45298	0.9231:0.0:0.0769:0.0	.	294;117;292;303	Q5T8D3-3;B7Z2A7;B7Z2R7;Q5T8D3	.;.;.;ACBD5_HUMAN	R	300;294;259;185;117;303	ENSP00000379568:S294R;ENSP00000365070:S259R;ENSP00000365066:S185R;ENSP00000365062:S117R;ENSP00000365049:S303R	ENSP00000365049:S303R	S	-	3	2	ACBD5	27544524	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.356000	0.44116	0.755000	0.32990	-0.509000	0.04479	AGC	ACBD5	-	pirsf_M-assoc_diazepam-bd-inh	ENSG00000107897		0.318	ACBD5-005	KNOWN	basic	protein_coding	ACBD5	HGNC	protein_coding	OTTHUMT00000047314.1		0.00	30	0	G	NM_145698		27504518	-1			no_errors	ENST00000375888	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T
ACSS2	55902	genome.wustl.edu	37	20	33501246	33501246	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr20:33501246C>T	ENST00000360596.2	+	4	728	c.517C>T	c.(517-519)Ctt>Ttt	p.L173F	ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000253382.5_Missense_Mutation_p.L173F|ACSS2_ENST00000336325.4_Missense_Mutation_p.L123F	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	173					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)	p.L173I(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GATCCCAGAGCTTGTGGTGGC	0.567																																																	1	Substitution - Missense(1)	large_intestine(1)											117.0	113.0	114.0					20																	33501246		2203	4300	6503	SO:0001583	missense	0			AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"""Acyl-CoA synthetase family"""	15814	protein-coding gene	gene with protein product		605832	"""acetyl-Coenzyme A synthetase 2 (ADP forming)"""	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.517C>T	20.37:g.33501246C>T	ENSP00000353804:p.Leu173Phe		A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.L173F	ENST00000360596.2	37	c.517	CCDS13243.1	20	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131816	0.77662	.	.	ENSG00000131069	ENST00000488172;ENST00000336325;ENST00000360596;ENST00000374693;ENST00000473172;ENST00000253382	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.09	5.09	0.68999	AMP-dependent synthetase/ligase (1);	0.066974	0.64402	D	0.000008	T	0.69851	0.3157	M	0.90198	3.095	0.80722	D	1	D;D	0.60575	0.988;0.98	D;D	0.69654	0.965;0.936	T	0.76219	-0.3039	10	0.66056	D	0.02	-6.9042	15.8075	0.78527	0.0:0.8643:0.1357:0.0	.	173;173	Q5QPH3;Q9NR19	.;ACSA_HUMAN	F	123;123;173;173;186;173	ENSP00000417783:L123F;ENSP00000337190:L123F;ENSP00000353804:L173F;ENSP00000419925:L186F;ENSP00000253382:L173F	ENSP00000253382:L173F	L	+	1	0	ACSS2	32964907	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	5.885000	0.69736	2.638000	0.89438	0.655000	0.94253	CTT	ACSS2	-	pfam_AMP-dep_Synth/Lig	ENSG00000131069		0.567	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSS2	HGNC	protein_coding	OTTHUMT00000078823.3		0.00	37	0	C	NM_018677		33501246	+1			no_errors	ENST00000253382	ensembl	human	known	74_37	missense	6.52	43	3	SNP	1.000	T
ADAM2	2515	genome.wustl.edu	37	8	39624391	39624391	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr8:39624391G>T	ENST00000265708.4	-	14	1586	c.1483C>A	c.(1483-1485)Caa>Aaa	p.Q495K	ADAM2_ENST00000347580.4_Missense_Mutation_p.Q476K|ADAM2_ENST00000379853.2_Missense_Mutation_p.Q369K|ADAM2_ENST00000521880.1_Missense_Mutation_p.Q495K	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	495	Cys-rich.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TCTGTACATTGTTTATCCCCA	0.373																																																	0													138.0	136.0	137.0					8																	39624391		2203	4300	6503	SO:0001583	missense	0			U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1483C>A	8.37:g.39624391G>T	ENSP00000265708:p.Gln495Lys		P78326|Q9UQQ8	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.Q495K	ENST00000265708.4	37	c.1483	CCDS34884.1	8	.	.	.	.	.	.	.	.	.	.	G	16.29	3.080884	0.55753	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	5.27	4.38	0.52667	ADAM, cysteine-rich (2);	.	.	.	.	T	0.64427	0.2597	H	0.94345	3.525	0.18873	N	0.999988	D;D;D;D	0.69078	0.983;0.997;0.99;0.992	D;D;D;D	0.70227	0.943;0.938;0.947;0.968	T	0.61623	-0.7025	8	.	.	.	.	11.507	0.50472	0.0:0.0:0.8205:0.1795	.	495;369;476;495	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	K	476;369;495;495	ENSP00000343854:Q476K;ENSP00000369182:Q369K;ENSP00000265708:Q495K;ENSP00000429352:Q495K	.	Q	-	1	0	ADAM2	39743548	0.999000	0.42202	0.173000	0.22940	0.004000	0.04260	4.715000	0.61909	1.332000	0.45431	0.655000	0.94253	CAA	ADAM2	-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich	ENSG00000104755		0.373	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM2	HGNC	protein_coding	OTTHUMT00000376926.1	-	0.00	48	0	G	NM_001464		39624391	-1	tier1	-	no_errors	ENST00000265708	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.542	T
ADCK1	57143	genome.wustl.edu	37	14	78325584	78325584	+	Nonsense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr14:78325584G>T	ENST00000238561.5	+	4	484	c.385G>T	c.(385-387)Gag>Tag	p.E129*	ADCK1_ENST00000341211.5_Intron	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	136						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		CAGCATGCAAGAGATCCGCCA	0.612																																																	0													52.0	50.0	51.0					14																	78325584		2203	4300	6503	SO:0001587	stop_gained	0			AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.385G>T	14.37:g.78325584G>T	ENSP00000238561:p.Glu129*		B3KUD5|Q6PD65|Q9UIE6	Nonsense_Mutation	SNP	pfam_UbiB_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom	p.E129*	ENST00000238561.5	37	c.385	CCDS9869.1	14	.	.	.	.	.	.	.	.	.	.	G	36	5.684246	0.96774	.	.	ENSG00000063761	ENST00000238561;ENST00000557501	.	.	.	5.47	5.47	0.80525	.	0.165964	0.52532	D	0.000074	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-32.3391	19.3013	0.94145	0.0:0.0:1.0:0.0	.	.	.	.	X	129	.	ENSP00000238561:E129X	E	+	1	0	ADCK1	77395337	1.000000	0.71417	0.936000	0.37596	0.990000	0.78478	6.293000	0.72731	2.560000	0.86352	0.561000	0.74099	GAG	ADCK1	-	NULL	ENSG00000063761		0.612	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK1	HGNC	protein_coding	OTTHUMT00000413864.1	-	0.00	60	0	G	NM_020421		78325584	+1	tier1	-	no_errors	ENST00000238561	ensembl	human	known	74_37	nonsense	53.33	14	16	SNP	1.000	T
AFF3	3899	genome.wustl.edu	37	2	100217961	100217961	+	Nonsense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:100217961G>T	ENST00000409236.2	-	12	1419	c.1307C>A	c.(1306-1308)tCg>tAg	p.S436*	AFF3_ENST00000409579.1_Nonsense_Mutation_p.S461*|AFF3_ENST00000356421.2_Nonsense_Mutation_p.S461*|AFF3_ENST00000317233.4_Nonsense_Mutation_p.S436*			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	436					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CTCGGTCTCCGAGTCAGATCC	0.662																																																	0													16.0	18.0	17.0					2																	100217961		2202	4299	6501	SO:0001587	stop_gained	0			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1307C>A	2.37:g.100217961G>T	ENSP00000387207:p.Ser436*		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Nonsense_Mutation	SNP	pfam_TF_AF4/FMR2	p.S461*	ENST00000409236.2	37	c.1382	CCDS42723.1	2	.	.	.	.	.	.	.	.	.	.	G	33	5.251515	0.95305	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	.	.	.	5.17	4.3	0.51218	.	0.118717	0.34932	N	0.003568	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6378	0.62233	0.0748:0.0:0.9252:0.0	.	.	.	.	X	436;461;461;436;436;589;461	.	ENSP00000317421:S436X	S	-	2	0	AFF3	99584393	1.000000	0.71417	0.994000	0.49952	0.031000	0.12232	6.763000	0.74955	1.188000	0.43014	-0.245000	0.11935	TCG	AFF3	-	pfam_TF_AF4/FMR2	ENSG00000144218		0.662	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3		0.00	67	0	G	NM_002285		100217961	-1			no_errors	ENST00000356421	ensembl	human	known	74_37	nonsense	6.06	31	2	SNP	0.997	T
AKAP13	11214	genome.wustl.edu	37	15	86118427	86118427	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr15:86118427C>T	ENST00000394518.2	+	6	823	c.728C>T	c.(727-729)tCt>tTt	p.S243F	AKAP13_ENST00000361243.2_Missense_Mutation_p.S243F	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	243					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GGAGACTGTTCTGTGAGGCAT	0.433																																					Melanoma(94;603 1453 3280 32295 32951)												0													155.0	146.0	149.0					15																	86118427		2202	4299	6501	SO:0001583	missense	0			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.728C>T	15.37:g.86118427C>T	ENSP00000378026:p.Ser243Phe		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.S243F	ENST00000394518.2	37	c.728	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823133	0.50739	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.63580	-0.05;-0.05	5.2	5.2	0.72013	.	.	.	.	.	T	0.49609	0.1567	N	0.22421	0.69	0.80722	D	1	B;B	0.23249	0.049;0.082	B;B	0.22386	0.018;0.039	T	0.45542	-0.9254	9	0.48119	T	0.1	.	14.4378	0.67293	0.0:1.0:0.0:0.0	.	243;243	Q12802;Q12802-2	AKP13_HUMAN;.	F	243;243;242;242	ENSP00000354718:S243F;ENSP00000378026:S243F	ENSP00000354718:S243F	S	+	2	0	AKAP13	83919431	0.970000	0.33590	1.000000	0.80357	0.993000	0.82548	0.804000	0.27098	2.854000	0.98071	0.655000	0.94253	TCT	AKAP13	-	NULL	ENSG00000170776		0.433	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	-	0.00	60	0	C	NM_007200		86118427	+1	tier1	-	no_errors	ENST00000361243	ensembl	human	known	74_37	missense	58.33	9	14	SNP	1.000	T
AGBL1	123624	genome.wustl.edu	37	15	86807974	86807974	+	Silent	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr15:86807974G>T	ENST00000441037.2	+	10	1529	c.1434G>T	c.(1432-1434)gtG>gtT	p.V478V	AGBL1_ENST00000389298.3_Silent_p.V209V|AGBL1_ENST00000421325.2_Silent_p.V478V	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	478					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CCAGCTCTGTGGTGGACTTCA	0.483																																																	0													114.0	112.0	113.0					15																	86807974		1929	4134	6063	SO:0001819	synonymous_variant	0			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.1434G>T	15.37:g.86807974G>T			A1A4X5|A6NJH6|C9JHL5	Silent	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.V478	ENST00000441037.2	37	c.1434	CCDS58398.1	15																																																																																			AGBL1	-	superfamily_ARM-type_fold	ENSG00000166748		0.483	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	AGBL1	HGNC	protein_coding	OTTHUMT00000314929.5		0.00	79	0	G	NM_152336		86807974	+1			no_errors	ENST00000441037	ensembl	human	known	74_37	silent	8.82	31	3	SNP	0.964	T
ALDOB	229	genome.wustl.edu	37	9	104188851	104188851	+	Missense_Mutation	SNP	A	A	G	rs374240733		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:104188851A>G	ENST00000374855.4	-	6	734	c.610T>C	c.(610-612)Tat>Cat	p.Y204H	ALDOB_ENST00000468981.3_5'UTR	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	204					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TCAGTAACATACTGGCAGTGT	0.368																																																	0													129.0	118.0	122.0					9																	104188851		2203	4300	6503	SO:0001583	missense	0			X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.610T>C	9.37:g.104188851A>G	ENSP00000363988:p.Tyr204His		Q13741|Q13742|Q5T7D6	Missense_Mutation	SNP	pfam_Aldolase_I	p.Y204H	ENST00000374855.4	37	c.610	CCDS6756.1	9	.	.	.	.	.	.	.	.	.	.	A	14.06	2.423551	0.43020	.	.	ENSG00000136872	ENST00000374855;ENST00000374853;ENST00000430164	D	0.85861	-2.04	5.62	5.62	0.85841	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.84977	0.5592	M	0.75150	2.29	0.80722	D	1	B	0.20459	0.045	B	0.20184	0.028	T	0.81653	-0.0835	10	0.38643	T	0.18	-2.697	14.9958	0.71431	1.0:0.0:0.0:0.0	.	204	P05062	ALDOB_HUMAN	H	204;131;204	ENSP00000363988:Y204H	ENSP00000363986:Y131H	Y	-	1	0	ALDOB	103228672	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.335000	0.96500	2.132000	0.65825	0.459000	0.35465	TAT	ALDOB	-	pfam_Aldolase_I	ENSG00000136872		0.368	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDOB	HGNC	protein_coding	OTTHUMT00000053434.2	-	0.00	77	0	A			104188851	-1	tier1	-	no_errors	ENST00000374855	ensembl	human	known	74_37	missense	27.78	39	15	SNP	1.000	G
ALG10B	144245	genome.wustl.edu	37	12	38714830	38714830	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr12:38714830C>A	ENST00000308742.4	+	3	1553	c.1237C>A	c.(1237-1239)Ctg>Atg	p.L413M	ALG10B_ENST00000551464.1_Intron|AC117372.1_ENST00000401168.2_RNA	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	413					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				TCAGAAACTGCTGGAATTTCG	0.353																																																	0													181.0	181.0	181.0					12																	38714830		2203	4300	6503	SO:0001583	missense	0			AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"""potassium channel regulator 1"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""		"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"""				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.1237C>A	12.37:g.38714830C>A	ENSP00000310120:p.Leu413Met		B2RPF4	Missense_Mutation	SNP	pfam_Alg10,pirsf_Alg10	p.L413M	ENST00000308742.4	37	c.1237	CCDS31772.1	12	.	.	.	.	.	.	.	.	.	.	c	14.92	2.679785	0.47886	.	.	ENSG00000175548	ENST00000308742	T	0.59083	0.29	3.34	2.45	0.29901	.	0.138212	0.50627	D	0.000120	T	0.74635	0.3742	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.76302	-0.3009	10	0.66056	D	0.02	.	8.8547	0.35221	0.0:0.8848:0.0:0.1152	.	413	Q5I7T1	AG10B_HUMAN	M	413	ENSP00000310120:L413M	ENSP00000310120:L413M	L	+	1	2	ALG10B	37001097	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	2.343000	0.44001	0.984000	0.38629	0.655000	0.94253	CTG	ALG10B	-	pfam_Alg10,pirsf_Alg10	ENSG00000175548		0.353	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG10B	HGNC	protein_coding	OTTHUMT00000403349.1		0.00	28	0	C	NM_001013620		38714830	+1			no_errors	ENST00000308742	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	A
ALPI	248	genome.wustl.edu	37	2	233322334	233322334	+	Silent	SNP	C	C	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:233322334C>T	ENST00000295463.3	+	6	785	c.708C>T	c.(706-708)taC>taT	p.Y236Y		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	236					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ACCCTGAGTACCCAGCTGATG	0.612																																																	0													64.0	65.0	65.0					2																	233322334		2203	4300	6503	SO:0001819	synonymous_variant	0			M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.708C>T	2.37:g.233322334C>T			B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Silent	SNP	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.Y236	ENST00000295463.3	37	c.708	CCDS2492.1	2																																																																																			ALPI	-	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase	ENSG00000163295		0.612	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPI	HGNC	protein_coding	OTTHUMT00000257035.2	-	0.00	157	0	C	NM_001631		233322334	+1	tier1	-	no_errors	ENST00000295463	ensembl	human	known	74_37	silent	35.00	52	28	SNP	0.988	T
ANGPTL4	51129	genome.wustl.edu	37	19	8430944	8430944	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:8430944G>A	ENST00000301455.2	+	2	596	c.425G>A	c.(424-426)aGc>aAc	p.S142N	ANGPTL4_ENST00000541807.1_5'UTR|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.S142N	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	142					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular lipid metabolic process (GO:0044255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of lipoprotein lipase activity (GO:0051005)|positive regulation of angiogenesis (GO:0045766)|protein homooligomerization (GO:0051260)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	enzyme inhibitor activity (GO:0004857)			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						CATCTGCAAAGCCAGGTAACC	0.582																																																	0													75.0	74.0	74.0					19																	8430944		2203	4300	6503	SO:0001583	missense	0			AF202636	CCDS12200.1, CCDS42493.1	19p13.3	2013-10-07				ENSG00000167772		"""Fibrinogen C domain containing"""	16039	protein-coding gene	gene with protein product	"""fasting-induced adipose factor"", ""hepatic angiopoietin-related protein"", ""PPARG angiopoietin related protein"", ""hepatic fibrinogen/angiopoietin-related protein"", ""peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein"", ""angiopoietin-related protein 4"""	605910				10698685, 10866690, 23960078	Standard	NM_139314		Approved	pp1158, PGAR, ARP4, HFARP, FIAF, NL2	uc002mjq.1	Q9BY76		ENST00000301455.2:c.425G>A	19.37:g.8430944G>A	ENSP00000301455:p.Ser142Asn		A8MY84|B4E089|D6W670|F5H0I2|Q53HQ6|Q53HU1|Q6UXN0|Q9HBV4|Q9NZU4|Q9Y5B3	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.S142N	ENST00000301455.2	37	c.425	CCDS12200.1	19	.	.	.	.	.	.	.	.	.	.	G	0.331	-0.956071	0.02267	.	.	ENSG00000167772	ENST00000301455;ENST00000393962	T;T	0.57273	0.59;0.41	4.62	2.41	0.29592	.	8.991540	0.00166	N	0.000000	T	0.39410	0.1077	L	0.29908	0.895	0.80722	D	1	B;B	0.27951	0.195;0.102	B;B	0.22152	0.038;0.028	T	0.18555	-1.0333	10	0.13470	T	0.59	.	6.0955	0.20019	0.1053:0.1917:0.703:0.0	.	142;142	A8MY84;Q9BY76	.;ANGL4_HUMAN	N	142	ENSP00000301455:S142N;ENSP00000377534:S142N	ENSP00000301455:S142N	S	+	2	0	ANGPTL4	8336944	0.994000	0.37717	1.000000	0.80357	0.425000	0.31504	0.522000	0.22909	0.350000	0.24002	0.655000	0.94253	AGC	ANGPTL4	-	NULL	ENSG00000167772		0.582	ANGPTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL4	HGNC	protein_coding	OTTHUMT00000460322.1	-	0.00	141	0	G	NM_139314		8430944	+1	tier1	-	no_errors	ENST00000301455	ensembl	human	known	74_37	missense	31.25	44	20	SNP	1.000	A
ANK3	288	genome.wustl.edu	37	10	61833327	61833327	+	Silent	SNP	A	A	G			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:61833327A>G	ENST00000280772.2	-	37	7503	c.7312T>C	c.(7312-7314)Ttg>Ctg	p.L2438L	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2438					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAAAGCTTCAATGTTTTATAA	0.413																																																	0													87.0	88.0	88.0					10																	61833327		2203	4300	6503	SO:0001819	synonymous_variant	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.7312T>C	10.37:g.61833327A>G			B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.L2438	ENST00000280772.2	37	c.7312	CCDS7258.1	10																																																																																			ANK3	-	NULL	ENSG00000151150		0.413	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	-	0.00	50	0	A	NM_020987		61833327	-1	tier1	-	no_errors	ENST00000280772	ensembl	human	known	74_37	silent	34.15	27	14	SNP	0.604	G
ANKRD20A5P	440482	genome.wustl.edu	37	18	14227754	14227754	+	IGR	SNP	A	A	G			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr18:14227754A>G								RNU6-316P (36949 upstream) : RP11-757O6.1 (16869 downstream)																							TCAAGTGGAAAGTCAAGTATG	0.333																																																	0																																										SO:0001628	intergenic_variant	0																															18.37:g.14227754A>G				RNA	SNP	-	NULL		37	NULL		18																																																																																			ANKRD20A5P	-	-	ENSG00000186481	0	0.333					ANKRD20A5P	HGNC			-	0.00	77	0	A			14227754	+1	tier1	-	no_errors	ENST00000577614	ensembl	human	known	74_37	rna	38.68	65	41	SNP	0.493	G
ANO9	338440	genome.wustl.edu	37	11	420818	420818	+	Silent	SNP	G	G	A	rs371262598		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr11:420818G>A	ENST00000332826.6	-	18	1617	c.1533C>T	c.(1531-1533)tcC>tcT	p.S511S		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	511					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						GCAGGTGCCCGGACTCGGAGG	0.697																																																	0								G		0,4370		0,0,2185	16.0	19.0	18.0		1533	0.0	0.0	11		18	1,8561		0,1,4280	no	coding-synonymous	ANO9	NM_001012302.2		0,1,6465	AA,AG,GG		0.0117,0.0,0.0077		511/783	420818	1,12931	2185	4281	6466	SO:0001819	synonymous_variant	0			U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.1533C>T	11.37:g.420818G>A			B3KUC4|B4E134|Q8TEN4	Silent	SNP	pfam_Anoctamin	p.S511	ENST00000332826.6	37	c.1533	CCDS31326.1	11																																																																																			ANO9	-	pfam_Anoctamin	ENSG00000185101		0.697	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO9	HGNC	protein_coding	OTTHUMT00000384116.1	-	0.00	55	0	G	NM_001012302		420818	-1	tier1	-	no_errors	ENST00000332826	ensembl	human	known	74_37	silent	33.33	4	3	SNP	0.000	A
AP3B2	8120	genome.wustl.edu	37	15	83348973	83348973	+	Frame_Shift_Del	DEL	T	T	-			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr15:83348973delT	ENST00000261722.3	-	9	1271	c.1064delA	c.(1063-1065)cagfs	p.Q355fs	AP3B2_ENST00000535348.1_Frame_Shift_Del_p.Q323fs|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Frame_Shift_Del_p.Q355fs	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	355					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CACAACGTACTGCACCTCACT	0.682																																																	0													32.0	37.0	36.0					15																	83348973		2076	4215	6291	SO:0001589	frameshift_variant	0			U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.1064delA	15.37:g.83348973delT	ENSP00000261722:p.Gln355fs		A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Frame_Shift_Del	DEL	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta	p.Q355fs	ENST00000261722.3	37	c.1064	CCDS45331.1	15																																																																																			AP3B2	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta	ENSG00000103723		0.682	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B2	HGNC	protein_coding	OTTHUMT00000397463.1		0.00	79	0	T			83348973	-1	tier1		no_errors	ENST00000261722	ensembl	human	known	74_37	frame_shift_del	11.76	15	2	DEL	1.000	-
APC	324	genome.wustl.edu	37	5	112170742	112170742	+	Frame_Shift_Del	DEL	T	T	-			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:112170742delT	ENST00000457016.1	+	15	2218	c.1838delT	c.(1837-1839)cttfs	p.L613fs	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Frame_Shift_Del_p.L613fs|APC_ENST00000257430.4_Frame_Shift_Del_p.L613fs			P25054	APC_HUMAN	adenomatous polyposis coli	613	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GATGGTGCACTTGCATTTTTG	0.418		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	1	Unknown(1)	skin(1)											209.0	169.0	183.0					5																	112170742		2202	4300	6502	SO:0001589	frameshift_variant	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.1838delT	5.37:g.112170742delT	ENSP00000413133:p.Leu613fs		D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Del	DEL	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.A614fs	ENST00000457016.1	37	c.1838	CCDS4107.1	5																																																																																			APC	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000134982		0.418	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2		0.00	58	0	T	NM_000038		112170742	+1	tier1		no_errors	ENST00000257430	ensembl	human	known	74_37	frame_shift_del	51.22	20	21	DEL	1.000	-
ARHGAP42	143872	genome.wustl.edu	37	11	100830615	100830615	+	Splice_Site	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr11:100830615G>T	ENST00000298815.8	+	13	1167	c.1164G>T	c.(1162-1164)atG>atT	p.M388I	ARHGAP42_ENST00000524892.2_Splice_Site_p.M354I	NM_152432.2	NP_689645.2	A6NI28	RHG42_HUMAN	Rho GTPase activating protein 42	388	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				signal transduction (GO:0007165)	intracellular (GO:0005622)	GTPase activator activity (GO:0005096)			endometrium(3)|skin(2)	5						TATTTTCAGTGTATTTGAATG	0.438																																																	0													204.0	197.0	199.0					11																	100830615		692	1591	2283	SO:0001630	splice_region_variant	0					11q22.1	2012-04-19			ENSG00000165895	ENSG00000165895		"""Rho GTPase activating proteins"""	26545	protein-coding gene	gene with protein product		615936				18954304	Standard	NM_152432		Approved	FLJ32810, GRAF3	uc001pge.2	A6NI28	OTTHUMG00000167530	ENST00000298815.8:c.1163-1G>T	11.37:g.100830615G>T			Q96M56	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.M388I	ENST00000298815.8	37	c.1164		11	.	.	.	.	.	.	.	.	.	.	G	11.29	1.595641	0.28445	.	.	ENSG00000165895	ENST00000524892;ENST00000298815	T;T	0.05855	3.38;3.47	5.68	5.68	0.88126	Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	.	.	.	.	T	0.07638	0.0192	L	0.38531	1.155	0.36678	D	0.878885	B	0.02656	0.0	B	0.06405	0.002	T	0.34054	-0.9844	9	0.20519	T	0.43	.	18.7885	0.91964	0.0:0.0:1.0:0.0	.	388	A6NI28	RHG42_HUMAN	I	354;388	ENSP00000431776:M354I;ENSP00000298815:M388I	ENSP00000298815:M388I	M	+	3	0	ARHGAP42	100335825	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.845000	0.55880	2.672000	0.90937	0.650000	0.86243	ATG	ARHGAP42	-	superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom	ENSG00000165895		0.438	ARHGAP42-201	KNOWN	basic|appris_principal	protein_coding	ARHGAP42	HGNC	protein_coding		-	0.00	70	0	G	NM_152432	Missense_Mutation	100830615	+1	tier1	-	no_errors	ENST00000298815	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T
ARID1A	8289	genome.wustl.edu	37	1	27023560	27023560	+	Nonsense_Mutation	SNP	C	C	G			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:27023560C>G	ENST00000324856.7	+	1	1037	c.666C>G	c.(664-666)taC>taG	p.Y222*	RP5-968P14.2_ENST00000569378.1_RNA|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Y222*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	222					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCAGCGCCTACCCCCCGCCCG	0.741			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													5.0	6.0	6.0					1																	27023560		1710	3585	5295	SO:0001587	stop_gained	0			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.666C>G	1.37:g.27023560C>G	ENSP00000320485:p.Tyr222*		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.Y222*	ENST00000324856.7	37	c.666	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575108	0.86542	.	.	ENSG00000117713	ENST00000324856;ENST00000457599	.	.	.	3.5	3.5	0.40072	.	0.238386	0.27004	U	0.021411	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-2.8061	7.1061	0.25364	0.0:0.8689:0.0:0.1311	.	.	.	.	X	222	.	ENSP00000320485:Y222X	Y	+	3	2	ARID1A	26896147	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.160000	0.58164	1.666000	0.50821	0.393000	0.25936	TAC	ARID1A	-	NULL	ENSG00000117713		0.741	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	-	0.00	43	0	C	NM_139135		27023560	+1	tier1	-	no_errors	ENST00000324856	ensembl	human	known	74_37	nonsense	66.67	2	4	SNP	1.000	G
ARMC4	55130	genome.wustl.edu	37	10	28270417	28270417	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:28270417A>C	ENST00000305242.5	-	7	1006	c.914T>G	c.(913-915)tTt>tGt	p.F305C	ARMC4_ENST00000537576.1_De_novo_Start_OutOfFrame|ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000239715.3_Missense_Mutation_p.F162C|ARMC4_ENST00000545014.1_De_novo_Start_OutOfFrame	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	305					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ATTTTCTGAAAATTTTGGTGA	0.299																																																	0													59.0	65.0	63.0					10																	28270417		2200	4290	6490	SO:0001583	missense	0			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.914T>G	10.37:g.28270417A>C	ENSP00000306410:p.Phe305Cys		A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo	p.F305C	ENST00000305242.5	37	c.914	CCDS7157.1	10	.	.	.	.	.	.	.	.	.	.	A	17.17	3.320391	0.60634	.	.	ENSG00000169126	ENST00000305242;ENST00000434029;ENST00000239715	T;T;T	0.68479	0.32;-0.33;-0.32	5.01	5.01	0.66863	.	0.157857	0.56097	D	0.000024	T	0.82204	0.4986	M	0.80847	2.515	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	D	0.85203	0.1016	10	0.87932	D	0	-5.4009	15.0115	0.71552	1.0:0.0:0.0:0.0	.	305	Q5T2S8	ARMC4_HUMAN	C	305;199;162	ENSP00000306410:F305C;ENSP00000398155:F199C;ENSP00000239715:F162C	ENSP00000239715:F162C	F	-	2	0	ARMC4	28310423	1.000000	0.71417	0.987000	0.45799	0.516000	0.34256	7.499000	0.81566	2.020000	0.59435	0.533000	0.62120	TTT	ARMC4	-	superfamily_GSKIP_dom	ENSG00000169126		0.299	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC4	HGNC	protein_coding	OTTHUMT00000047339.1	-	0.00	38	0	A	NM_018076		28270417	-1	tier1	-	no_errors	ENST00000305242	ensembl	human	known	74_37	missense	36.44	75	43	SNP	1.000	C
AZGP1P1	646282	genome.wustl.edu	37	7	99581017	99581017	+	RNA	SNP	C	C	T	rs549871505		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr7:99581017C>T	ENST00000425474.1	+	0	338					NR_036679.1				alpha-2-glycoprotein 1, zinc-binding pseudogene 1																		AGTATTACAACGACGGTAACG	0.547													c|||	1	0.000199681	0.0	0.0	5008	,	,		18848	0.0		0.0	False		,,,				2504	0.001																0																																												0			AW995302		7q22.1	2010-04-16	2006-11-07		ENSG00000214313	ENSG00000214313			911	pseudogene	pseudogene			"""alpha-2-glycoprotein 1, zinc pseudogene 1"""			8241150, 8307568	Standard	NR_036679		Approved		uc003usi.2		OTTHUMG00000156513		7.37:g.99581017C>T				RNA	SNP	-	NULL	ENST00000425474.1	37	NULL		7																																																																																			AZGP1P1	-	-	ENSG00000214313		0.547	AZGP1P1-002	KNOWN	basic	processed_transcript	AZGP1P1	HGNC	pseudogene	OTTHUMT00000344467.1	-	0.00	189	0	C			99581017	+1	tier1	-	no_errors	ENST00000425474	ensembl	human	known	74_37	rna	28.69	87	35	SNP	0.007	T
ASB10	136371	genome.wustl.edu	37	7	150883938	150883938	+	Silent	SNP	G	G	T	rs532203636		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr7:150883938G>T	ENST00000420175.2	-	1	304	c.280C>A	c.(280-282)Cga>Aga	p.R94R	ASB10_ENST00000434669.1_Silent_p.R139R|ASB10_ENST00000275838.1_Silent_p.R94R|ASB10_ENST00000377867.3_Intron|ASB10_ENST00000422024.1_Silent_p.R139R			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	94			R -> Q (in GLC1F; uncertain pathological significance). {ECO:0000269|PubMed:22156576}.		intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R94R(2)		NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCCTCCATCGCTCTGGGTCG	0.642																																																	2	Substitution - coding silent(2)	lung(2)											36.0	38.0	37.0					7																	150883938		2203	4300	6503	SO:0001819	synonymous_variant	0			AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.280C>A	7.37:g.150883938G>T			A0AVH0|Q6ZUL6	Silent	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.R139	ENST00000420175.2	37	c.415	CCDS47750.2	7																																																																																			ASB10	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000146926		0.642	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB10	HGNC	protein_coding	OTTHUMT00000347096.3		0.00	76	0	G	NM_080871		150883938	-1			no_errors	ENST00000422024	ensembl	human	known	74_37	silent	6.06	31	2	SNP	1.000	T
BAZ2A	11176	genome.wustl.edu	37	12	56995191	56995191	+	Intron	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr12:56995191G>T	ENST00000551812.1	-	21	4271				BAZ2A_ENST00000379441.3_Intron|BAZ2A_ENST00000553222.1_5'UTR|BAZ2A_ENST00000179765.5_Intron|BAZ2A_ENST00000549884.1_Intron	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A						chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						ATTCATCTGTGAATAAAATGA	0.512																																																	0													27.0	27.0	27.0					12																	56995191		2001	4174	6175	SO:0001627	intron_variant	0			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.4078-5C>A	12.37:g.56995191G>T			B3KN66|O00536|O15030|Q68DI8|Q96H26	RNA	SNP	-	NULL	ENST00000551812.1	37	NULL	CCDS44924.1	12																																																																																			BAZ2A	-	-	ENSG00000076108		0.512	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	HGNC	protein_coding	OTTHUMT00000408561.1	-	0.00	66	0	G	NM_013449		56995191	-1	tier1	-	no_errors	ENST00000553222	ensembl	human	known	74_37	rna	9.09	30	3	SNP	0.040	T
BICD2	23299	genome.wustl.edu	37	9	95481343	95481344	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:95481343_95481344delCA	ENST00000375512.3	-	5	1650_1651	c.1583_1584delTG	c.(1582-1584)gtgfs	p.V528fs	BICD2_ENST00000356884.6_Frame_Shift_Del_p.V528fs	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	528					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CACTGAAGGTCACCAGCTCATC	0.619																																																	0																																										SO:0001589	frameshift_variant	0			AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1583_1584delTG	9.37:g.95481343_95481344delCA	ENSP00000364662:p.Val528fs		O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Frame_Shift_Del	DEL	pfam_Bicaudal-D_microtubule-assoc	p.V528fs	ENST00000375512.3	37	c.1584_1583	CCDS6700.1	9																																																																																			BICD2	-	pfam_Bicaudal-D_microtubule-assoc	ENSG00000185963		0.619	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BICD2	HGNC	protein_coding	OTTHUMT00000055508.1		0.00	45	0	CA	NM_015250		95481344	-1	tier1		no_errors	ENST00000356884	ensembl	human	known	74_37	frame_shift_del	28.57	5	2	DEL	1.000:1.000	-
BORA	79866	genome.wustl.edu	37	13	73320213	73320213	+	Splice_Site	SNP	A	A	C			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr13:73320213A>C	ENST00000390667.5	+	9	967	c.870A>C	c.(868-870)tcA>tcC	p.S290S	BORA_ENST00000377815.3_Splice_Site_p.S220S	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	290					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)										CTCCACTCTCAGGTATGTCTC	0.328																																																	0													98.0	92.0	94.0					13																	73320213		1799	4072	5871	SO:0001630	splice_region_variant	0			BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"""chromosome 13 open reading frame 34"""	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.871+1A>C	13.37:g.73320213A>C			B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Silent	SNP	prints_Aurora_borealis_protien	p.S290	ENST00000390667.5	37	c.870	CCDS9446.1	13																																																																																			BORA	-	NULL	ENSG00000136122		0.328	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BORA	HGNC	protein_coding	OTTHUMT00000045245.3	-	0.00	46	0	A	NM_024808	Silent	73320213	+1	tier1	-	no_errors	ENST00000390667	ensembl	human	known	74_37	silent	8.22	67	6	SNP	1.000	C
BPNT1	10380	genome.wustl.edu	37	1	220236122	220236122	+	Silent	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:220236122G>T	ENST00000469520.2	-	8	1098	c.649C>A	c.(649-651)Cga>Aga	p.R217R	BPNT1_ENST00000322067.7_Silent_p.R217R|BPNT1_ENST00000482136.1_5'Flank|BPNT1_ENST00000414869.2_Silent_p.R181R|BPNT1_ENST00000544404.1_Silent_p.R162R|BPNT1_ENST00000354807.3_Silent_p.R232R			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	217					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|dephosphorylation (GO:0016311)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|magnesium ion binding (GO:0000287)			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		CCTCCTACTCGCAGCACAGCA	0.418																																																	0													130.0	142.0	138.0					1																	220236122		1970	4158	6128	SO:0001819	synonymous_variant	0			AF125042	CCDS41469.1, CCDS65787.1, CCDS65788.1	1q42	2008-02-05			ENSG00000162813	ENSG00000162813	3.1.3.7		1096	protein-coding gene	gene with protein product		604053				10224133	Standard	XM_005272998		Approved		uc001hma.3	O95861	OTTHUMG00000037435	ENST00000469520.2:c.649C>A	1.37:g.220236122G>T			A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3	Silent	SNP	pfam_Inositol_monophosphatase	p.R217	ENST00000469520.2	37	c.649	CCDS41469.1	1																																																																																			BPNT1	-	pfam_Inositol_monophosphatase	ENSG00000162813		0.418	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPNT1	HGNC	protein_coding	OTTHUMT00000091137.2	-	0.00	108	0	G	NM_006085		220236122	-1	tier1	-	no_errors	ENST00000322067	ensembl	human	known	74_37	silent	6.35	59	4	SNP	0.890	T
BRCA1	672	genome.wustl.edu	37	17	41245977	41245977	+	Missense_Mutation	SNP	G	G	T	rs397508886|rs80357333		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr17:41245977G>T	ENST00000357654.3	-	10	1689	c.1571C>A	c.(1570-1572)gCa>gAa	p.A524E	BRCA1_ENST00000346315.3_Missense_Mutation_p.A524E|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.A477E|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.A524E|BRCA1_ENST00000471181.2_Missense_Mutation_p.A524E|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.A228E	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	524					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTTTTGAACTGCCAAATCTGC	0.378			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																													yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0													64.0	59.0	60.0					17																	41245977		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.1571C>A	17.37:g.41245977G>T	ENSP00000350283:p.Ala524Glu		O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING	p.A524E	ENST00000357654.3	37	c.1571	CCDS11453.1	17	.	.	.	.	.	.	.	.	.	.	G	10.46	1.356327	0.24598	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795;ENST00000470026;ENST00000477152	D;D;D;D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28	4.38	2.19	0.27852	.	0.810359	0.10967	N	0.614242	T	0.81024	0.4737	L	0.55990	1.75	0.09310	N	1	B;B;B;P;P;B	0.38167	0.028;0.028;0.349;0.621;0.563;0.088	B;B;B;B;B;B	0.34093	0.009;0.009;0.17;0.132;0.175;0.086	T	0.69533	-0.5120	10	0.36615	T	0.2	-0.1361	6.867	0.24098	0.0:0.144:0.5518:0.3042	.	524;483;524;524;524;524	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	E	524;524;524;524;228;524;477;524;498	ENSP00000350283:A524E;ENSP00000326002:A524E;ENSP00000246907:A524E;ENSP00000310938:A228E;ENSP00000418960:A524E;ENSP00000418775:A477E;ENSP00000419274:A524E;ENSP00000419988:A498E	ENSP00000310938:A228E	A	-	2	0	BRCA1	38499503	0.002000	0.14202	0.950000	0.38849	0.922000	0.55478	1.183000	0.32041	1.185000	0.42971	0.462000	0.41574	GCA	BRCA1	-	pirsf_BRCA1	ENSG00000012048		0.378	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA1	HGNC	protein_coding	OTTHUMT00000348798.2	-	0.00	27	0	G	NM_007294		41245977	-1	tier1	-	no_errors	ENST00000471181	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.115	T
BSN	8927	genome.wustl.edu	37	3	49694709	49694709	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr3:49694709C>A	ENST00000296452.4	+	5	7834	c.7720C>A	c.(7720-7722)Ccc>Acc	p.P2574T		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2574					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TGGGACTGAGCCCTGTGTGGT	0.647																																																	0													54.0	54.0	54.0					3																	49694709		2203	4300	6503	SO:0001583	missense	0			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.7720C>A	3.37:g.49694709C>A	ENSP00000296452:p.Pro2574Thr		O43161|Q7LGH3	Missense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.P2574T	ENST00000296452.4	37	c.7720	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	C	3.756	-0.050644	0.07407	.	.	ENSG00000164061	ENST00000296452	T	0.19669	2.13	5.82	5.82	0.92795	.	0.141960	0.48286	D	0.000189	T	0.30854	0.0778	M	0.62723	1.935	0.38302	D	0.942998	P	0.52842	0.956	B	0.44224	0.444	T	0.17501	-1.0367	10	0.72032	D	0.01	-17.9466	19.7034	0.96065	0.0:1.0:0.0:0.0	.	2574	Q9UPA5	BSN_HUMAN	T	2574	ENSP00000296452:P2574T	ENSP00000296452:P2574T	P	+	1	0	BSN	49669713	0.680000	0.27605	0.972000	0.41901	0.192000	0.23643	1.231000	0.32624	2.756000	0.94617	0.561000	0.74099	CCC	BSN	-	NULL	ENSG00000164061		0.647	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1		0.00	142	0	C	NM_003458		49694709	+1			no_errors	ENST00000296452	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.992	A
MALRD1	340895	genome.wustl.edu	37	10	19884240	19884240	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:19884240C>A	ENST00000454679.2	+	20	3896	c.3896C>A	c.(3895-3897)tCt>tAt	p.S1299Y	C10orf112_ENST00000455457.2_Missense_Mutation_p.S127Y|U3_ENST00000363675.1_RNA			Q5VYJ5	MALR1_HUMAN		1299	LDL-receptor class A 6. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol homeostasis (GO:0042632)|negative regulation of bile acid biosynthetic process (GO:0070858)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				breast(1)|lung(2)	3						ATAGATGGATCTGATGAAATG	0.488																																																	0																																										SO:0001583	missense	0																														ENST00000454679.2:c.3896C>A	10.37:g.19884240C>A	ENSP00000412763:p.Ser1299Tyr		B7ZBP2	Missense_Mutation	SNP	pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt,prints_MAM_dom	p.S1299Y	ENST00000454679.2	37	c.3896		10	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897176	0.33535	.	.	ENSG00000204740	ENST00000377266;ENST00000454679;ENST00000455457	D;D;D	0.97772	-4.53;-4.53;-4.53	4.71	3.78	0.43462	.	.	.	.	.	D	0.96144	0.8743	.	.	.	0.25827	N	0.984215	.	.	.	.	.	.	D	0.91620	0.5310	5	.	.	.	.	9.8032	0.40777	0.1567:0.6913:0.1519:0.0	.	.	.	.	Y	1312;1299;127	ENSP00000366477:S1312Y;ENSP00000412763:S1299Y;ENSP00000391253:S127Y	.	S	+	2	0	C10orf112	19924246	1.000000	0.71417	0.684000	0.30055	0.130000	0.20726	2.314000	0.43743	1.279000	0.44446	0.563000	0.77884	TCT	C10orf112	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	ENSG00000204740		0.488	C10orf112-201	KNOWN	basic|appris_principal	protein_coding	C10orf112	HGNC	protein_coding		-	0.00	88	0	C			19884240	+1	tier1	-	no_errors	ENST00000454679	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.971	A
C10orf71	118461	genome.wustl.edu	37	10	50534981	50534981	+	3'UTR	SNP	C	C	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:50534981C>A	ENST00000374144.3	+	0	4679				C10orf71_ENST00000323868.4_Missense_Mutation_p.H694N			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71											endometrium(1)	1						cacacacacacacacacacac	0.502																																																	0													57.0	59.0	59.0					10																	50534981		1979	4133	6112	SO:0001624	3_prime_UTR_variant	0			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.*83C>A	10.37:g.50534981C>A			A0AVL8	Missense_Mutation	SNP	NULL	p.H694N	ENST00000374144.3	37	c.2080	CCDS44387.1	10	.	.	.	.	.	.	.	.	.	.	c	11.36	1.615467	0.28801	.	.	ENSG00000177354	ENST00000323868	T	0.13307	2.6	4.51	-0.725	0.11174	.	.	.	.	.	T	0.02727	0.0082	N	0.00538	-1.39	0.09310	N	1	B	0.16603	0.018	B	0.18263	0.021	T	0.44329	-0.9335	9	0.02654	T	1	.	7.5308	0.27681	0.0:0.5093:0.0:0.4907	.	694	Q711Q0-3	.	N	694	ENSP00000318713:H694N	ENSP00000318713:H694N	H	+	1	0	C10orf71	50204987	0.001000	0.12720	0.001000	0.08648	0.020000	0.10135	0.121000	0.15667	-0.009000	0.14296	0.484000	0.47621	CAC	C10orf71	-	NULL	ENSG00000177354		0.502	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C10orf71	HGNC	protein_coding	OTTHUMT00000047984.2	-	0.00	41	0	C	NM_199459		50534981	+1	tier1	-	no_errors	ENST00000323868	ensembl	human	known	74_37	missense	16.00	20	4	SNP	0.000	A
CFAP54	144535	genome.wustl.edu	37	12	97102427	97102427	+	Silent	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr12:97102427G>T	ENST00000524981.4	+	48	6593	c.6570G>T	c.(6568-6570)ctG>ctT	p.L2190L				Q96N23	CL055_HUMAN		0																	CTGCAGTTCTGGTTACAATTG	0.303																																																	0													77.0	79.0	78.0					12																	97102427		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000524981.4:c.6570G>T	12.37:g.97102427G>T				Silent	SNP	superfamily_Fibronectin_type3	p.L2190	ENST00000524981.4	37	c.6570		12																																																																																			C12orf55	-	NULL	ENSG00000188596		0.303	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	HGNC	protein_coding	OTTHUMT00000395046.4	-	0.00	37	0	G			97102427	+1	tier1	-	no_errors	ENST00000524981	ensembl	human	putative	74_37	silent	6.06	62	4	SNP	0.023	T
C16orf91	283951	genome.wustl.edu	37	16	1476241	1476241	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr16:1476241G>A	ENST00000310355.1	-	3	381	c.382C>T	c.(382-384)Cct>Tct	p.P128S				Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	0						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						TGCAGCCCAGGGGGGCTTCCT	0.612																																																	0													101.0	103.0	102.0					16																	1476241		2199	4300	6499	SO:0001583	missense	0			BC023590	CCDS61789.1	16p13.3	2012-10-10			ENSG00000174109	ENSG00000174109			27558	protein-coding gene	gene with protein product	"""cattle cerebrum and skeletal muscle-specific protein 1 family member"""						Standard	NM_001272051		Approved	gs103, CCSMST1	uc002clr.4	Q4G0I0		ENST00000310355.1:c.382C>T	16.37:g.1476241G>A	ENSP00000311390:p.Pro128Ser		Q96RZ0	Missense_Mutation	SNP	prints_CCSMST1	p.P128S	ENST00000310355.1	37	c.382	CCDS32360.1	16	.	.	.	.	.	.	.	.	.	.	G	3.499	-0.102267	0.06967	.	.	ENSG00000174109	ENST00000310355	.	.	.	3.15	1.1	0.20463	.	.	.	.	.	T	0.36358	0.0964	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36212	-0.9757	5	0.87932	D	0	.	3.5931	0.07995	0.1381:0.0:0.5978:0.2641	.	.	.	.	S	128	.	ENSP00000311390:P128S	P	-	1	0	C16orf91	1416242	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.004000	0.12878	0.318000	0.23185	0.655000	0.94253	CCT	C16orf91	-	NULL	ENSG00000174109		0.612	C16orf91-201	KNOWN	basic|CCDS	protein_coding	C16orf91	HGNC	protein_coding		-	0.00	150	0	G	NM_001010878		1476241	-1	tier1	-	no_errors	ENST00000310355	ensembl	human	known	74_37	missense	50.00	36	36	SNP	0.001	A
C16orf96	342346	genome.wustl.edu	37	16	4638329	4638329	+	Silent	SNP	C	C	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr16:4638329C>A	ENST00000444310.4	+	9	2589	c.2589C>A	c.(2587-2589)acC>acA	p.T863T		NM_001145011.1	NP_001138483.1			chromosome 16 open reading frame 96											NS(1)|breast(1)|endometrium(6)|kidney(1)|skin(3)	12						ACGTGAACACCAAGGTGAATG	0.453																																																	0													140.0	124.0	129.0					16																	4638329		692	1591	2283	SO:0001819	synonymous_variant	0				CCDS53986.1	16p13.3	2012-10-10			ENSG00000205832	ENSG00000205832			40031	protein-coding gene	gene with protein product							Standard	NM_001145011		Approved		uc010uxn.2	A6NNT2	OTTHUMG00000176519	ENST00000444310.4:c.2589C>A	16.37:g.4638329C>A				Silent	SNP	NULL	p.T863	ENST00000444310.4	37	c.2589	CCDS53986.1	16																																																																																			C16orf96	-	NULL	ENSG00000205832		0.453	C16orf96-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C16orf96	HGNC	protein_coding	OTTHUMT00000432384.1	-	0.00	106	0	C	NM_001145011		4638329	+1	tier1	-	no_errors	ENST00000444310	ensembl	human	known	74_37	silent	7.02	53	4	SNP	0.953	A
C19orf68	374920	genome.wustl.edu	37	19	48675281	48675281	+	Silent	SNP	C	C	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:48675281C>T	ENST00000328759.7	+	2	254	c.222C>T	c.(220-222)agC>agT	p.S74S	LIG1_ENST00000427526.2_5'Flank|LIG1_ENST00000536218.1_5'Flank|ZNF114_ENST00000597695.1_5'Flank|LIG1_ENST00000263274.7_5'Flank|C19orf68_ENST00000593921.1_3'UTR|LIG1_ENST00000599165.1_5'Flank			Q86XI8	CS068_HUMAN	chromosome 19 open reading frame 68	74					hematopoietic progenitor cell differentiation (GO:0002244)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)											TCAAGTACAGCTACGTGCGGC	0.692																																																	0																																										SO:0001819	synonymous_variant	0			BC043386	CCDS74411.1	19q13.32	2008-08-06			ENSG00000185453	ENSG00000185453			34495	protein-coding gene	gene with protein product						12477932	Standard	NM_199341		Approved	LOC374920	uc002pic.3	Q86XI8		ENST00000328759.7:c.222C>T	19.37:g.48675281C>T				Silent	SNP	NULL	p.S74	ENST00000328759.7	37	c.222		19																																																																																			C19orf68	-	NULL	ENSG00000185453		0.692	C19orf68-001	KNOWN	non_canonical_other|basic|appris_principal	protein_coding	C19orf68	HGNC	protein_coding	OTTHUMT00000465598.1	-	0.00	35	0	C	XM_001713770		48675281	+1	tier1	-	no_errors	ENST00000328759	ensembl	human	known	74_37	silent	100.00	0	2	SNP	1.000	T
C5orf42	65250	genome.wustl.edu	37	5	37226488	37226488	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:37226488C>A	ENST00000508244.1	-	11	2302	c.2209G>T	c.(2209-2211)Ggt>Tgt	p.G737C	C5orf42_ENST00000274258.7_5'UTR|C5orf42_ENST00000425232.2_Missense_Mutation_p.G737C			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	737						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTCTGAAAACCACTATCTTGA	0.363																																																	0													38.0	33.0	34.0					5																	37226488		692	1591	2283	SO:0001583	missense	0				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.2209G>T	5.37:g.37226488C>A	ENSP00000421690:p.Gly737Cys		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	superfamily_Quino_amine_DH_bsu	p.G737C	ENST00000508244.1	37	c.2209	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	C	2.278	-0.365417	0.05069	.	.	ENSG00000197603	ENST00000508244;ENST00000425232	T;T	0.22336	1.96;1.96	4.72	-0.894	0.10563	.	2.133630	0.02516	U	0.092048	T	0.12347	0.0300	N	0.16478	0.41	0.09310	N	0.999998	B	0.09022	0.002	B	0.10450	0.005	T	0.32719	-0.9896	10	0.66056	D	0.02	3.8289	0.5504	0.00661	0.2178:0.316:0.1887:0.2776	.	737	E9PH94	.	C	737	ENSP00000421690:G737C;ENSP00000389014:G737C	ENSP00000389014:G737C	G	-	1	0	C5orf42	37262245	0.000000	0.05858	0.000000	0.03702	0.558000	0.35554	-0.656000	0.05342	0.075000	0.16796	0.591000	0.81541	GGT	C5orf42	-	NULL	ENSG00000197603		0.363	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	-	0.00	52	0	C	NM_023073		37226488	-1	tier1	-	no_errors	ENST00000425232	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.000	A
C9orf84	158401	genome.wustl.edu	37	9	114454721	114454721	+	Nonsense_Mutation	SNP	G	G	T	rs148430343		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:114454721G>T	ENST00000318737.4	-	25	3472	c.3344C>A	c.(3343-3345)tCa>tAa	p.S1115*	C9orf84_ENST00000374287.3_Nonsense_Mutation_p.S1115*|C9orf84_ENST00000394777.4_Nonsense_Mutation_p.S1041*|C9orf84_ENST00000394779.3_Nonsense_Mutation_p.S1076*	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1115										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTCCTGAGGTGACGAAATTTG	0.318																																																	0													58.0	63.0	61.0					9																	114454721		2203	4298	6501	SO:0001587	stop_gained	0			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.3344C>A	9.37:g.114454721G>T	ENSP00000322108:p.Ser1115*		A2A2V3|Q2M1H8|Q96M73	Nonsense_Mutation	SNP	superfamily_RuvA_2-like	p.S1115*	ENST00000318737.4	37	c.3344	CCDS6781.3	9	.	.	.	.	.	.	.	.	.	.	G	38	6.861189	0.97893	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	.	.	.	5.53	4.63	0.57726	.	0.350018	0.21023	N	0.081462	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.2163	8.812	0.34974	0.1723:0.0:0.8276:0.0	.	.	.	.	X	1076;1041;729;1115;1115	.	ENSP00000322108:S1115X	S	-	2	0	C9orf84	113494542	1.000000	0.71417	1.000000	0.80357	0.138000	0.21146	1.608000	0.36847	1.463000	0.47967	0.563000	0.77884	TCA	C9orf84	-	NULL	ENSG00000165181		0.318	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf84	HGNC	protein_coding	OTTHUMT00000053656.2	-	0.00	37	0	G	NM_173521		114454721	-1	tier1	-	no_errors	ENST00000318737	ensembl	human	known	74_37	nonsense	6.85	68	5	SNP	0.997	T
CACNA1E	777	genome.wustl.edu	37	1	181701652	181701652	+	Silent	SNP	C	C	G			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:181701652C>G	ENST00000367573.2	+	20	2430	c.2430C>G	c.(2428-2430)ccC>ccG	p.P810P	CACNA1E_ENST00000357570.5_Silent_p.P761P|CACNA1E_ENST00000367567.4_Silent_p.P417P|CACNA1E_ENST00000526775.1_Silent_p.P791P|CACNA1E_ENST00000358338.5_Silent_p.P742P|CACNA1E_ENST00000360108.3_Silent_p.P791P|CACNA1E_ENST00000367570.1_Silent_p.P810P	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	810					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						cgctcaaccccctcaacccgc	0.657																																																	0													44.0	60.0	55.0					1																	181701652		1772	3409	5181	SO:0001819	synonymous_variant	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.2430C>G	1.37:g.181701652C>G			B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.P810	ENST00000367573.2	37	c.2430	CCDS55664.1	1																																																																																			CACNA1E	-	NULL	ENSG00000198216		0.657	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	-	0.00	200	0	C	NM_000721		181701652	+1	tier1	-	no_errors	ENST00000367573	ensembl	human	known	74_37	silent	41.67	20	15	SNP	0.778	G
CALB1	793	genome.wustl.edu	37	8	91072859	91072859	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr8:91072859G>T	ENST00000265431.3	-	10	851	c.670C>A	c.(670-672)Cag>Aag	p.Q224K	CALB1_ENST00000518457.1_Missense_Mutation_p.Q167K	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	224					cellular response to organic substance (GO:0071310)|cytosolic calcium ion homeostasis (GO:0051480)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|metanephric collecting duct development (GO:0072205)|metanephric connecting tubule development (GO:0072286)|metanephric distal convoluted tubule development (GO:0072221)|metanephric part of ureteric bud development (GO:0035502)|regulation of synaptic plasticity (GO:0048167)|retina layer formation (GO:0010842)|short-term memory (GO:0007614)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|vitamin D binding (GO:0005499)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TAAGTTACCTGTTTATTCTTC	0.383																																					Melanoma(46;573 1182 27367 39727 48386)												0													205.0	188.0	193.0					8																	91072859		2203	4300	6503	SO:0001583	missense	0				CCDS6251.1	8q21.3	2013-01-10	2002-08-29		ENSG00000104327	ENSG00000104327		"""EF-hand domain containing"""	1434	protein-coding gene	gene with protein product		114050		CALB			Standard	NM_004929		Approved		uc003yel.1	P05937	OTTHUMG00000134314	ENST00000265431.3:c.670C>A	8.37:g.91072859G>T	ENSP00000265431:p.Gln224Lys		B2R696|B7Z9J4	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.Q224K	ENST00000265431.3	37	c.670	CCDS6251.1	8	.	.	.	.	.	.	.	.	.	.	G	2.938	-0.219623	0.06061	.	.	ENSG00000104327	ENST00000265431;ENST00000518457	D;D	0.94417	-1.55;-3.42	5.8	5.8	0.92144	EF-hand-like domain (1);	0.062472	0.64402	D	0.000012	D	0.84547	0.5496	N	0.04805	-0.155	0.38758	D	0.954257	B	0.02656	0.0	B	0.04013	0.001	T	0.79337	-0.1845	10	0.02654	T	1	-18.6958	13.0372	0.58879	0.0:0.0:0.7338:0.2662	.	224	P05937	CALB1_HUMAN	K	224;167	ENSP00000265431:Q224K;ENSP00000429602:Q167K	ENSP00000265431:Q224K	Q	-	1	0	CALB1	91142035	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.976000	0.70484	2.758000	0.94735	0.563000	0.77884	CAG	CALB1	-	NULL	ENSG00000104327		0.383	CALB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALB1	HGNC	protein_coding	OTTHUMT00000259338.2		0.00	58	0	G	NM_004929		91072859	-1			no_errors	ENST00000265431	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T
CALR3	125972	genome.wustl.edu	37	19	16594793	16594793	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:16594793G>A	ENST00000269881.3	-	5	688	c.626C>T	c.(625-627)aCg>aTg	p.T209M	CALR3_ENST00000602234.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Intron	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN	calreticulin 3	209	4 X approximate repeats.|P-domain.				cell differentiation (GO:0030154)|protein folding (GO:0006457)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						TGCCGGGGACGTTTCCTTCTT	0.418																																																	0													126.0	110.0	116.0					19																	16594793		2203	4300	6503	SO:0001583	missense	0			AK058084	CCDS12344.1	19p13.11	2014-09-17				ENSG00000269058			20407	protein-coding gene	gene with protein product	"""cancer/testis antigen 93"", ""calsperin"""	611414				12384296	Standard	NM_145046		Approved	CRT2, FLJ25355, MGC26577, CT93	uc002ned.3	Q96L12		ENST00000269881.3:c.626C>T	19.37:g.16594793G>A	ENSP00000269881:p.Thr209Met		D9N574|Q96LN3	Missense_Mutation	SNP	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,pirsf_Calreticulin,prints_Calret/calnex	p.T209M	ENST00000269881.3	37	c.626	CCDS12344.1	19	.	.	.	.	.	.	.	.	.	.	G	10.94	1.491443	0.26774	.	.	ENSG00000141979	ENST00000269881	T	0.22743	1.94	4.55	1.08	0.20341	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Calreticulin/calnexin, P (1);	0.599767	0.17090	N	0.187434	T	0.12092	0.0294	N	0.19112	0.55	0.09310	N	1	B	0.17667	0.023	B	0.11329	0.006	T	0.21211	-1.0252	10	0.87932	D	0	-13.8487	6.5619	0.22491	0.0:0.0819:0.3013:0.6167	.	209	Q96L12	CALR3_HUMAN	M	209	ENSP00000269881:T209M	ENSP00000269881:T209M	T	-	2	0	CALR3	16455793	1.000000	0.71417	0.000000	0.03702	0.017000	0.09413	2.607000	0.46300	-0.062000	0.13088	-0.377000	0.06932	ACG	CALR3	-	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,pirsf_Calreticulin	ENSG00000269058		0.418	CALR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALR3	HGNC	protein_coding	OTTHUMT00000461089.1	-	0.00	121	0	G	NM_145046		16594793	-1	tier1	-	no_errors	ENST00000269881	ensembl	human	known	74_37	missense	12.00	66	9	SNP	0.249	A
CASP2	835	genome.wustl.edu	37	7	142997515	142997515	+	Intron	SNP	C	C	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr7:142997515C>T	ENST00000310447.5	+	8	1208				CASP2_ENST00000493642.1_3'UTR|RN7SL481P_ENST00000477764.2_RNA	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase						aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|ectopic germ cell programmed cell death (GO:0035234)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|luteolysis (GO:0001554)|neural retina development (GO:0003407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron apoptotic process (GO:0043525)|protein processing (GO:0016485)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					TTCACTGCTGCCACCGCCTCT	0.607																																																	0													44.0	41.0	42.0					7																	142997515		876	1991	2867	SO:0001627	intron_variant	0			AK096245, BC002427, BM998653, BX537669, CB988674, U13021	CCDS5879.1, CCDS47733.1	7q34-q35	2014-01-20	2008-08-01		ENSG00000106144	ENSG00000106144		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1503	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 57"""	600639	"""neural precursor cell expressed, developmentally down-regulated 2"""	NEDD2		7789948, 8780721	Standard	NM_032982		Approved	ICH1, PPP1R57, MGC2181	uc003wco.3	P42575	OTTHUMG00000023641	ENST00000310447.5:c.967+128C>T	7.37:g.142997515C>T			A8K5F9|D3DXD6|E9PDN0|P42576|Q59F21|Q7KZL6|Q86UJ3|Q9BUP7|Q9BZK9|Q9BZL0	RNA	SNP	-	NULL	ENST00000310447.5	37	NULL	CCDS5879.1	7	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935643	0.92458	.	.	ENSG00000106144	ENST00000392923	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	T	0.58495	0.2126	L	0.33624	1.015	0.80722	D	1	.	.	.	.	.	.	T	0.53279	-0.8461	6	0.29301	T	0.29	.	17.3972	0.87449	0.0:1.0:0.0:0.0	.	.	.	.	V	307	.	ENSP00000376654:A307V	A	+	2	0	CASP2	142707637	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.709000	0.61867	2.612000	0.88384	0.644000	0.83932	GCC	CASP2	-	-	ENSG00000106144		0.607	CASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP2	HGNC	protein_coding	OTTHUMT00000059962.3	-	0.00	41	0	C	NM_032982		142997515	+1	tier1	-	no_errors	ENST00000493642	ensembl	human	known	74_37	rna	16.67	25	5	SNP	1.000	T
RP11-690P14.4	0	genome.wustl.edu	37	10	97741806	97741806	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:97741806G>T	ENST00000475252.2	+	2	203	c.203G>T	c.(202-204)tGg>tTg	p.W68L	ENTPD1-AS1_ENST00000451364.1_RNA|RP11-248J23.6_ENST00000472454.2_Missense_Mutation_p.W337L|ENTPD1-AS1_ENST00000454638.1_RNA|CC2D2B_ENST00000371198.2_5'UTR|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA																							CTTTTTGAATGGGCAAATGAA	0.313																																																	0																																										SO:0001583	missense	0																														ENST00000475252.2:c.203G>T	10.37:g.97741806G>T	ENSP00000473319:p.Trp68Leu			Missense_Mutation	SNP	NULL	p.W337L	ENST00000475252.2	37	c.1010		10																																																																																			RP11-248J23.6	-	NULL	ENSG00000269948		0.313	RP11-690P14.4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	CC2D2B	Clone_based_vega_gene	protein_coding	OTTHUMT00000468152.1	-	0.00	61	0	G			97741806	+1	tier1	-	no_errors	ENST00000472454	ensembl	human	novel	74_37	missense	5.88	64	4	SNP	1.000	T
CCDC13	152206	genome.wustl.edu	37	3	42777276	42777277	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	GG	GG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr3:42777276_42777277delGG	ENST00000310232.6	-	10	1376_1377	c.1293_1294delCC	c.(1291-1296)gcccagfs	p.Q432fs	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	432										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GCCTGCAGCTGGGCGACTAGGC	0.614																																																	0																																										SO:0001589	frameshift_variant	0			AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1293_1294delCC	3.37:g.42777276_42777277delGG	ENSP00000309836:p.Gln432fs			Frame_Shift_Del	DEL	superfamily_Prefoldin	p.Q432fs	ENST00000310232.6	37	c.1294_1293	CCDS2705.1	3																																																																																			CCDC13	-	NULL	ENSG00000244607		0.614	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC13	HGNC	protein_coding	OTTHUMT00000256652.1		0.00	48	0	GG	NM_144719		42777277	-1	tier1		no_errors	ENST00000310232	ensembl	human	known	74_37	frame_shift_del	6.45	29	2	DEL	1.000:0.981	-
CCDC149	91050	genome.wustl.edu	37	4	24838911	24838911	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr4:24838911G>T	ENST00000389609.4	-	7	744	c.601C>A	c.(601-603)Cat>Aat	p.H201N	CCDC149_ENST00000428116.2_Intron|CCDC149_ENST00000504487.1_Missense_Mutation_p.H201N|CCDC149_ENST00000502801.1_Intron	NM_173463.4	NP_775734.2	Q6ZUS6	CC149_HUMAN	coiled-coil domain containing 149	146										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				CTCAGGATATGGTTCAGCTCC	0.577																																																	0													193.0	132.0	153.0					4																	24838911		2203	4300	6503	SO:0001583	missense	0				CCDS33967.1, CCDS47036.1, CCDS33967.2	4p15.2	2008-03-03				ENSG00000181982			25405	protein-coding gene	gene with protein product						17457313	Standard	NM_173463		Approved	DKFZp761B107	uc003grc.3	Q6ZUS6		ENST00000389609.4:c.601C>A	4.37:g.24838911G>T	ENSP00000374260:p.His201Asn		A6NJE7|B4DK90|B4DZG3|G5EA04|Q6NW41|Q8N3K8	Missense_Mutation	SNP	pfam_Coiled-coil_dom-contain_pr_149	p.H201N	ENST00000389609.4	37	c.601	CCDS33967.2	4	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276405	0.80580	.	.	ENSG00000181982	ENST00000504487;ENST00000389609;ENST00000382116;ENST00000503881	.	.	.	6.07	6.07	0.98685	.	0.082771	0.85682	D	0.000000	T	0.77948	0.4207	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.74023	0.972;0.982	T	0.72581	-0.4250	9	0.33940	T	0.23	-15.06	20.6439	0.99570	0.0:0.0:1.0:0.0	.	146;201	Q6ZUS6;G5EA04	CC149_HUMAN;.	N	201;201;125;146	.	ENSP00000371550:H125N	H	-	1	0	CCDC149	24448009	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	9.869000	0.99810	2.884000	0.98904	0.655000	0.94253	CAT	CCDC149	-	pfam_Coiled-coil_dom-contain_pr_149	ENSG00000181982		0.577	CCDC149-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	CCDC149	HGNC	protein_coding	OTTHUMT00000360157.1		0.00	96	0	G	NM_173463		24838911	-1			no_errors	ENST00000504487	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T
CCDC88B	283234	genome.wustl.edu	37	11	64117141	64117141	+	Splice_Site	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr11:64117141G>T	ENST00000356786.5	+	16	2906		c.e16+1		CCDC88B_ENST00000359902.2_Splice_Site|CCDC88B_ENST00000301897.4_Splice_Site|CCDC88B_ENST00000463837.1_Splice_Site	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B							membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTGTTCCAGGTGATGCCTGC	0.652																																																	0													21.0	28.0	25.0					11																	64117141		2191	4290	6481	SO:0001630	splice_region_variant	0			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.2862+1G>T	11.37:g.64117141G>T			A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Splice_Site	SNP	-	e16+1	ENST00000356786.5	37	c.2862+1	CCDS8072.2	11	.	.	.	.	.	.	.	.	.	.	-	14.64	2.595507	0.46318	.	.	ENSG00000168071	ENST00000377638;ENST00000356786;ENST00000359902	.	.	.	4.0	4.0	0.46444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.37	0.55250	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC88B	63873717	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	2.375000	0.44283	2.189000	0.69895	0.436000	0.28706	.	CCDC88B	-	-	ENSG00000168071		0.652	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88B	HGNC	protein_coding	OTTHUMT00000104845.1		0.00	72	0	G	NM_032251	Intron	64117141	+1			no_errors	ENST00000356786	ensembl	human	known	74_37	splice_site	6.90	27	2	SNP	1.000	T
CCNT2	905	genome.wustl.edu	37	2	135676490	135676490	+	Silent	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:135676490G>T	ENST00000264157.5	+	1	96	c.66G>T	c.(64-66)ccG>ccT	p.P22P	CCNT2_ENST00000537343.1_5'UTR|CCNT2_ENST00000295238.6_Silent_p.P22P|AC016725.4_ENST00000392929.2_RNA|AC016725.4_ENST00000537615.1_RNA|AC016725.4_ENST00000428857.1_RNA|AC016725.4_ENST00000413962.1_RNA	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	22					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		AGAACACGCCGAGCCGCCGCT	0.617																																																	0													42.0	52.0	48.0					2																	135676490		2203	4300	6503	SO:0001819	synonymous_variant	0			AF048731	CCDS2174.1, CCDS2175.1	2q21.3	2010-11-15			ENSG00000082258	ENSG00000082258			1600	protein-coding gene	gene with protein product		603862				9499409, 10465067	Standard	NM_001241		Approved		uc002tuc.2	O60583	OTTHUMG00000131712	ENST00000264157.5:c.66G>T	2.37:g.135676490G>T			A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Silent	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.P22	ENST00000264157.5	37	c.66	CCDS2174.1	2																																																																																			CCNT2	-	pfam_Cyclin_N,superfamily_Cyclin-like	ENSG00000082258		0.617	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNT2	HGNC	protein_coding	OTTHUMT00000254629.1	-	0.00	111	0	G	NM_058241		135676490	+1	tier1	-	no_errors	ENST00000264157	ensembl	human	known	74_37	silent	13.33	26	4	SNP	1.000	T
CDC42BPB	9578	genome.wustl.edu	37	14	103478444	103478444	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr14:103478444G>T	ENST00000361246.2	-	2	545	c.257C>A	c.(256-258)gCt>gAt	p.A86D		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CTCACCAAAAGCACCTCTTCC	0.348																																																	0													110.0	104.0	106.0					14																	103478444		2203	4299	6502	SO:0001583	missense	0			AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.257C>A	14.37:g.103478444G>T	ENSP00000355237:p.Ala86Asp			Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.A86D	ENST00000361246.2	37	c.257	CCDS9978.1	14	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863280	0.91511	.	.	ENSG00000198752	ENST00000361246	T	0.43294	0.95	5.5	5.5	0.81552	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.72028	0.3410	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.78314	-0.2252	10	0.87932	D	0	.	18.1741	0.89756	0.0:0.0:1.0:0.0	.	86	Q9Y5S2	MRCKB_HUMAN	D	86	ENSP00000355237:A86D	ENSP00000355237:A86D	A	-	2	0	CDC42BPB	102548197	1.000000	0.71417	0.991000	0.47740	0.903000	0.53119	9.205000	0.95048	2.576000	0.86940	0.655000	0.94253	GCT	CDC42BPB	-	pfam_Prot_kinase_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_dom	ENSG00000198752		0.348	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPB	HGNC	protein_coding	OTTHUMT00000415711.1	-	0.00	69	0	G	NM_006035		103478444	-1	tier1	-	no_errors	ENST00000361246	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T
CDH4	1002	genome.wustl.edu	37	20	60318683	60318683	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr20:60318683A>C	ENST00000360469.5	+	3	322	c.234A>C	c.(232-234)aaA>aaC	p.K78N	RP11-429E11.2_ENST00000442888.1_RNA|RP11-429E11.2_ENST00000447909.1_RNA|CDH4_ENST00000543233.1_Missense_Mutation_p.K4N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	78					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TGGACTTCAAAGTTGGGGCAG	0.597																																																	0													60.0	41.0	48.0					20																	60318683		2202	4300	6502	SO:0001583	missense	0			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.234A>C	20.37:g.60318683A>C	ENSP00000353656:p.Lys78Asn		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin	p.K78N	ENST00000360469.5	37	c.234	CCDS13488.1	20	.	.	.	.	.	.	.	.	.	.	A	10.70	1.425238	0.25639	.	.	ENSG00000179242	ENST00000360469;ENST00000543233	T;T	0.50001	0.76;0.76	5.11	1.5	0.22942	Cadherin prodomain-like (1);Cadherin-like (1);	0.399593	0.29466	N	0.012077	T	0.37544	0.1007	M	0.68317	2.08	0.41325	D	0.987208	P	0.37781	0.608	B	0.33846	0.171	T	0.08597	-1.0714	9	.	.	.	.	5.0262	0.14385	0.5568:0.1494:0.2937:0.0	.	78	P55283	CADH4_HUMAN	N	78;4	ENSP00000353656:K78N;ENSP00000443301:K4N	.	K	+	3	2	CDH4	59752078	0.996000	0.38824	0.592000	0.28758	0.114000	0.19823	0.235000	0.17948	-0.018000	0.14079	0.402000	0.26972	AAA	CDH4	-	pfam_Cadherin_pro_dom,superfamily_Cadherin-like	ENSG00000179242		0.597	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	HGNC	protein_coding	OTTHUMT00000079965.2	-	0.00	59	0	A	NM_001794		60318683	+1	tier1	-	no_errors	ENST00000360469	ensembl	human	known	74_37	missense	29.41	36	15	SNP	0.998	C
CECR5	27440	genome.wustl.edu	37	22	17619025	17619025	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr22:17619025G>T	ENST00000336737.4	-	8	1183	c.1158C>A	c.(1156-1158)caC>caA	p.H386Q	CECR5_ENST00000155674.5_Missense_Mutation_p.H356Q|CECR5_ENST00000399852.3_Missense_Mutation_p.H186Q	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	386						mitochondrion (GO:0005739)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				CTCGGTGCCCGTGGAATGGAG	0.602																																																	0													106.0	91.0	96.0					22																	17619025		2203	4300	6503	SO:0001583	missense	0			AF273270	CCDS13741.1, CCDS33595.1	22q11.2	2008-06-12			ENSG00000069998	ENSG00000069998			1843	protein-coding gene	gene with protein product						11381032	Standard	NM_017829		Approved		uc002zmf.3	Q9BXW7	OTTHUMG00000150071	ENST00000336737.4:c.1158C>A	22.37:g.17619025G>T	ENSP00000337358:p.His386Gln		B2RCK5|Q9BXW8|Q9NWA8|Q9NX41	Missense_Mutation	SNP	superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_CECR5,tigrfam_HAD-SF_hydro_IIA	p.H386Q	ENST00000336737.4	37	c.1158	CCDS33595.1	22	.	.	.	.	.	.	.	.	.	.	G	14.94	2.683970	0.47991	.	.	ENSG00000069998	ENST00000155674;ENST00000336737;ENST00000399852	T;T;T	0.49432	0.78;0.78;0.78	4.47	-1.82	0.07857	HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.64659	0.2618	M	0.83384	2.64	0.40650	D	0.982022	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.998;0.998	T	0.67260	-0.5715	10	0.66056	D	0.02	-26.8632	10.1774	0.42946	0.6105:0.0:0.3895:0.0	.	356;186;386;250	Q9BXW7-2;A8MYZ9;Q9BXW7;B3KVW8	.;.;CECR5_HUMAN;.	Q	356;386;186	ENSP00000155674:H356Q;ENSP00000337358:H386Q;ENSP00000382745:H186Q	ENSP00000155674:H356Q	H	-	3	2	CECR5	15999025	0.269000	0.24143	0.997000	0.53966	0.396000	0.30629	-0.423000	0.07034	-0.111000	0.12001	-0.367000	0.07326	CAC	CECR5	-	superfamily_HAD-like_dom	ENSG00000069998		0.602	CECR5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CECR5	HGNC	protein_coding	OTTHUMT00000316100.1		0.00	76	0	G	NM_017829		17619025	-1			no_errors	ENST00000336737	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.997	T
CHRM2	1129	genome.wustl.edu	37	7	136555956	136555956	+	Intron	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr7:136555956G>T	ENST00000445907.2	+	2	482				CHRM2_ENST00000397608.3_Intron|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000402486.3_Intron|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000453373.1_Intron|CHRM2_ENST00000401861.1_Intron|CHRM2_ENST00000320658.5_Intron|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000480591.1_3'UTR|hsa-mir-490_ENST00000592183.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	AACCCGAAAGGCCTGAGGAAA	0.657																																																	0																																										SO:0001627	intron_variant	0				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.-47+1791G>T	7.37:g.136555956G>T			Q4VBK6|Q9P1X9	RNA	SNP	-	NULL	ENST00000445907.2	37	NULL	CCDS5843.1	7																																																																																			CHRM2	-	-	ENSG00000181072		0.657	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM2	HGNC	protein_coding	OTTHUMT00000341010.1	-	0.00	217	0	G			136555956	+1	tier1	-	no_errors	ENST00000480591	ensembl	human	known	74_37	rna	5.06	75	4	SNP	0.001	T
CHRNA6	8973	genome.wustl.edu	37	8	42612091	42612091	+	Silent	SNP	G	G	T	rs201576802		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr8:42612091G>T	ENST00000276410.2	-	4	709	c.354C>A	c.(352-354)ccC>ccA	p.P118P	CHRNA6_ENST00000534622.1_Silent_p.P103P|CHRNA6_ENST00000530869.1_5'UTR	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	118					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	GAACAATGTCGGGCTTCCAAA	0.423																																																	0													103.0	104.0	104.0					8																	42612091		2203	4300	6503	SO:0001819	synonymous_variant	0			U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	15963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 6 (neuronal)"""	606888	"""cholinergic receptor, nicotinic, alpha polypeptide 6"""			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.354C>A	8.37:g.42612091G>T			B2R8V4|B4DQH1	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.P118	ENST00000276410.2	37	c.354	CCDS6135.1	8																																																																																			CHRNA6	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel	ENSG00000147434		0.423	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA6	HGNC	protein_coding	OTTHUMT00000383156.1		0.00	92	0	G			42612091	-1			no_errors	ENST00000276410	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.992	T
CHSY3	337876	genome.wustl.edu	37	5	129521224	129521224	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:129521224G>T	ENST00000305031.4	+	3	2747	c.2389G>T	c.(2389-2391)Gat>Tat	p.D797Y		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	797					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		AGGTGGATTTGATACCTCAAT	0.393																																																	0													89.0	90.0	90.0					5																	129521224		2203	4300	6503	SO:0001583	missense	0			AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.2389G>T	5.37:g.129521224G>T	ENSP00000302629:p.Asp797Tyr		B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	pfam_Chond_GalNAc,pfam_Fringe-like	p.D797Y	ENST00000305031.4	37	c.2389	CCDS34223.1	5	.	.	.	.	.	.	.	.	.	.	G	16.89	3.246517	0.59103	.	.	ENSG00000198108	ENST00000305031	T	0.54071	0.59	4.09	4.09	0.47781	.	0.000000	0.52532	D	0.000080	T	0.76933	0.4057	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81899	-0.0721	9	.	.	.	.	17.6256	0.88093	0.0:0.0:1.0:0.0	.	797	Q70JA7	CHSS3_HUMAN	Y	797	ENSP00000302629:D797Y	.	D	+	1	0	CHSY3	129549123	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.601000	0.98297	2.571000	0.86741	0.650000	0.86243	GAT	CHSY3	-	pfam_Chond_GalNAc	ENSG00000198108		0.393	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHSY3	HGNC	protein_coding	OTTHUMT00000371453.1	-	0.00	33	0	G	NM_175856		129521224	+1	tier1	-	no_errors	ENST00000305031	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T
CLCN7	1186	genome.wustl.edu	37	16	1497474	1497474	+	Silent	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr16:1497474G>T	ENST00000382745.4	-	23	2774	c.2169C>A	c.(2167-2169)tcC>tcA	p.S723S	CCDC154_ENST00000409671.1_5'Flank|CCDC154_ENST00000389176.3_5'Flank|CLCN7_ENST00000448525.1_Silent_p.S699S|CLCN7_ENST00000262318.8_Silent_p.S699S|LA16c-390E6.5_ENST00000566287.1_RNA	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	723					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				ACACGTGGATGGACTGGATGG	0.657																																																	0													54.0	34.0	41.0					16																	1497474		2148	4239	6387	SO:0001819	synonymous_variant	0			Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.2169C>A	16.37:g.1497474G>T			A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Silent	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-7	p.S723	ENST00000382745.4	37	c.2169	CCDS32361.1	16																																																																																			CLCN7	-	NULL	ENSG00000103249		0.657	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN7	HGNC	protein_coding	OTTHUMT00000103598.2	-	0.00	133	0	G	NM_001287		1497474	-1	tier1	-	no_errors	ENST00000382745	ensembl	human	known	74_37	silent	18.18	18	4	SNP	1.000	T
CLDN5	7122	genome.wustl.edu	37	22	19511944	19511944	+	Silent	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr22:19511944G>T	ENST00000406028.1	-	2	1150	c.90C>A	c.(88-90)ccC>ccA	p.P30P	CLDN5_ENST00000403084.1_Silent_p.P30P|CLDN5_ENST00000413119.2_Silent_p.P30P			O00501	CLD5_HUMAN	claudin 5	0					calcium-independent cell-cell adhesion (GO:0016338)|myelination (GO:0042552)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			liver(1)|lung(2)|prostate(1)	4	Colorectal(54;0.0993)					AGCTCCTGCCGGGGGGTACCC	0.741																																																	0													3.0	4.0	4.0					22																	19511944		593	1402	1995	SO:0001819	synonymous_variant	0			AF000959	CCDS13763.2	22q11.21	2008-08-01	2008-08-01		ENSG00000184113	ENSG00000184113		"""Claudins"""	2047	protein-coding gene	gene with protein product		602101	"""transmembrane protein deleted in velocardiofacial syndrome"""	AWAL, TMVCF		9441748, 9192844	Standard	NM_003277		Approved	CPETRL1, BEC1	uc002zpu.2	O00501	OTTHUMG00000150441	ENST00000406028.1:c.90C>A	22.37:g.19511944G>T			B3KS11|Q53XW2|Q8WUW3	Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin5	p.P30	ENST00000406028.1	37	c.90	CCDS13763.2	22																																																																																			CLDN5	-	NULL	ENSG00000184113		0.741	CLDN5-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLDN5	HGNC	protein_coding	OTTHUMT00000318122.3	-	0.00	45	0	G	NM_003277		19511944	-1	tier1	-	no_errors	ENST00000403084	ensembl	human	known	74_37	silent	50.00	0	2	SNP	0.015	T
CLEC2L	154790	genome.wustl.edu	37	7	139221067	139221067	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr7:139221067G>T	ENST00000422142.2	+	2	310	c.238G>T	c.(238-240)Gcc>Tcc	p.A80S		NM_001080511.2	NP_001073980.2	P0C7M8	CLC2L_HUMAN	C-type lectin domain family 2, member L	80						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.A80T(1)		NS(1)|endometrium(1)|kidney(2)|lung(1)	5	Melanoma(164;0.233)					CCTTCTGTTCGCCATCTTGGT	0.527																																																	1	Substitution - Missense(1)	endometrium(1)											191.0	153.0	165.0					7																	139221067		692	1591	2283	SO:0001583	missense	0			AK057548	CCDS47724.1	7q34	2011-05-18			ENSG00000236279	ENSG00000236279		"""C-type lectin domain containing"""	21969	protein-coding gene	gene with protein product							Standard	NM_001080511		Approved	FLJ32986	uc010lnd.3	P0C7M8	OTTHUMG00000164900	ENST00000422142.2:c.238G>T	7.37:g.139221067G>T	ENSP00000390661:p.Ala80Ser			Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.A80S	ENST00000422142.2	37	c.238	CCDS47724.1	7	.	.	.	.	.	.	.	.	.	.	G	16.20	3.056678	0.55325	.	.	ENSG00000236279	ENST00000422142	T	0.16073	2.37	4.09	4.09	0.47781	.	.	.	.	.	T	0.10895	0.0266	N	0.21508	0.67	0.30026	N	0.813885	B	0.24483	0.104	B	0.17722	0.019	T	0.10567	-1.0624	9	0.12766	T	0.61	.	11.6587	0.51334	0.0:0.0:1.0:0.0	.	80	P0C7M8	CLC2L_HUMAN	S	80	ENSP00000390661:A80S	ENSP00000390661:A80S	A	+	1	0	CLEC2L	138871607	0.998000	0.40836	0.997000	0.53966	0.896000	0.52359	4.071000	0.57556	2.106000	0.64143	0.511000	0.50034	GCC	CLEC2L	-	NULL	ENSG00000236279		0.527	CLEC2L-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CLEC2L	HGNC	protein_coding	OTTHUMT00000380878.1	-	0.00	78	0	G	NM_001080511		139221067	+1	tier1	-	no_errors	ENST00000422142	ensembl	human	novel	74_37	missense	7.41	50	4	SNP	0.999	T
CLK4	57396	genome.wustl.edu	37	5	178032350	178032350	+	Nonsense_Mutation	SNP	C	C	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:178032350C>A	ENST00000316308.4	-	11	1336	c.1168G>T	c.(1168-1170)Gaa>Taa	p.E390*		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	390	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		AATATTCGTTCCATCATTGCC	0.323																																																	0													165.0	148.0	154.0					5																	178032350		2203	4300	6503	SO:0001587	stop_gained	0			AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"""CDC-like kinases"""	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.1168G>T	5.37:g.178032350C>A	ENSP00000316948:p.Glu390*			Nonsense_Mutation	SNP	pfam_Prot_kinase_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_dom	p.E390*	ENST00000316308.4	37	c.1168	CCDS4437.1	5	.	.	.	.	.	.	.	.	.	.	C	39	7.343830	0.98224	.	.	ENSG00000113240	ENST00000316308	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.812	0.85724	0.0:1.0:0.0:0.0	.	.	.	.	X	390	.	ENSP00000316948:E390X	E	-	1	0	CLK4	177964956	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.626000	0.67777	2.548000	0.85928	0.585000	0.79938	GAA	CLK4	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000113240		0.323	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLK4	HGNC	protein_coding	OTTHUMT00000253479.2	-	0.00	48	0	C			178032350	-1	tier1	-	no_errors	ENST00000316308	ensembl	human	known	74_37	nonsense	6.56	57	4	SNP	1.000	A
COL4A1	1282	genome.wustl.edu	37	13	110823055	110823055	+	Missense_Mutation	SNP	G	G	T	rs372606485		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr13:110823055G>T	ENST00000375820.4	-	42	3702	c.3581C>A	c.(3580-3582)cCa>cAa	p.P1194Q		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1194	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)	p.P1194L(1)|p.P837L(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGCTAATCCTGGGAAACCCAC	0.567																																																	2	Substitution - Missense(2)	lung(2)											40.0	44.0	42.0					13																	110823055		2203	4300	6503	SO:0001583	missense	0			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.3581C>A	13.37:g.110823055G>T	ENSP00000364979:p.Pro1194Gln		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P1194Q	ENST00000375820.4	37	c.3581	CCDS9511.1	13	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318234	0.60524	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.97752	-4.52	5.21	5.21	0.72293	.	0.058094	0.64402	D	0.000001	D	0.97929	0.9319	L	0.39326	1.205	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98667	1.0686	10	0.48119	T	0.1	.	18.8249	0.92114	0.0:0.0:1.0:0.0	.	1194	P02462	CO4A1_HUMAN	Q	837;1194;843	ENSP00000364979:P1194Q	ENSP00000364973:P837Q	P	-	2	0	COL4A1	109621056	1.000000	0.71417	0.980000	0.43619	0.992000	0.81027	7.572000	0.82409	2.433000	0.82419	0.650000	0.86243	CCA	COL4A1	-	pfam_Collagen	ENSG00000187498		0.567	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A1	HGNC	protein_coding	OTTHUMT00000045759.3		0.00	75	0	G			110823055	-1			no_errors	ENST00000375820	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	T
CPNE8	144402	genome.wustl.edu	37	12	39071262	39071262	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr12:39071262T>C	ENST00000331366.5	-	17	1462	c.1366A>G	c.(1366-1368)Ata>Gta	p.I456V	CPNE8_ENST00000360449.3_Missense_Mutation_p.I444V|CPNE8_ENST00000538596.2_Missense_Mutation_p.I125V|CPNE8_ENST00000546603.1_5'UTR	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	456	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				ACATTAACTATGGACTCCTTA	0.413																																																	0													107.0	100.0	102.0					12																	39071262		2203	4300	6503	SO:0001583	missense	0			AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.1366A>G	12.37:g.39071262T>C	ENSP00000329748:p.Ile456Val		Q2TB41|Q86VY2	Missense_Mutation	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A	p.I456V	ENST00000331366.5	37	c.1366	CCDS8733.1	12	.	.	.	.	.	.	.	.	.	.	T	16.34	3.095196	0.56075	.	.	ENSG00000139117	ENST00000331366;ENST00000538596;ENST00000360449	T;T;T	0.27890	1.64;1.64;1.64	4.72	4.72	0.59763	von Willebrand factor, type A (2);Copine (1);	0.000000	0.85682	D	0.000000	T	0.33904	0.0879	L	0.55481	1.735	0.80722	D	1	B	0.22983	0.078	B	0.33690	0.168	T	0.11717	-1.0576	10	0.30854	T	0.27	-23.6773	13.8868	0.63712	0.0:0.0:0.0:1.0	.	456	Q86YQ8	CPNE8_HUMAN	V	456;125;444	ENSP00000329748:I456V;ENSP00000439237:I125V;ENSP00000353633:I444V	ENSP00000329748:I456V	I	-	1	0	CPNE8	37357529	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.341000	0.79300	2.050000	0.60909	0.528000	0.53228	ATA	CPNE8	-	pfam_Copine,smart_VWF_A,pfscan_VWF_A	ENSG00000139117		0.413	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE8	HGNC	protein_coding	OTTHUMT00000403856.1	-	0.00	68	0	T	NM_153634		39071262	-1	tier1	-	no_errors	ENST00000331366	ensembl	human	known	74_37	missense	15.15	28	5	SNP	1.000	C
CREBBP	1387	genome.wustl.edu	37	16	3778125	3778125	+	Frame_Shift_Del	DEL	G	G	-			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr16:3778125delG	ENST00000262367.5	-	31	7732	c.6923delC	c.(6922-6924)ccafs	p.P2308fs	CREBBP_ENST00000382070.3_Frame_Shift_Del_p.P2270fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2308					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CGGCTGGCCTGGGGACCCAAT	0.642			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													68.0	72.0	71.0					16																	3778125		2197	4300	6497	SO:0001589	frameshift_variant	0			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.6923delC	16.37:g.3778125delG	ENSP00000262367:p.Pro2308fs		D3DUC9|O00147|Q16376|Q4LE28	Frame_Shift_Del	DEL	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.P2308fs	ENST00000262367.5	37	c.6923	CCDS10509.1	16																																																																																			CREBBP	-	NULL	ENSG00000005339		0.642	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2		0.00	149	0	G	NM_004380		3778125	-1	tier1		no_errors	ENST00000262367	ensembl	human	known	74_37	frame_shift_del	5.13	37	2	DEL	0.999	-
CSF2RB	1439	genome.wustl.edu	37	22	37322157	37322157	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr22:37322157A>G	ENST00000403662.3	+	4	551	c.329A>G	c.(328-330)tAc>tGc	p.Y110C	CSF2RB_ENST00000536485.1_Missense_Mutation_p.Y51C|CSF2RB_ENST00000262825.5_Missense_Mutation_p.Y110C|CSF2RB_ENST00000406230.1_Missense_Mutation_p.Y110C			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	110					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GACGTTGACTACTTCTCATTC	0.622																																																	0													103.0	84.0	90.0					22																	37322157		2203	4300	6503	SO:0001583	missense	0			M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.329A>G	22.37:g.37322157A>G	ENSP00000384053:p.Tyr110Cys		Q5JZI1|Q6ICE0	Missense_Mutation	SNP	pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.Y110C	ENST00000403662.3	37	c.329	CCDS13936.1	22	.	.	.	.	.	.	.	.	.	.	A	11.55	1.672692	0.29693	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000421539;ENST00000536485	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	5.37	-0.00228	0.14031	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.864447	0.09647	N	0.774114	T	0.67804	0.2932	M	0.68952	2.095	0.20074	N	0.999937	D;D	0.69078	0.996;0.997	P;P	0.62813	0.907;0.733	T	0.55405	-0.8146	10	0.59425	D	0.04	-4.2428	0.4069	0.00434	0.4431:0.1675:0.1922:0.1971	.	110;110	P32927-2;P32927	.;IL3RB_HUMAN	C	110;110;110;110;30;51	ENSP00000384053:Y110C;ENSP00000262825:Y110C;ENSP00000385271:Y110C;ENSP00000393585:Y30C;ENSP00000440003:Y51C	ENSP00000262825:Y110C	Y	+	2	0	CSF2RB	35652103	0.158000	0.22850	0.321000	0.25320	0.004000	0.04260	0.064000	0.14437	0.097000	0.17492	-0.411000	0.06167	TAC	CSF2RB	-	pirsf_IL3_rcpt_beta,superfamily_Fibronectin_type3	ENSG00000100368		0.622	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF2RB	HGNC	protein_coding	OTTHUMT00000318854.1	-	0.00	56	0	A	NM_000395		37322157	+1	tier1	-	no_errors	ENST00000262825	ensembl	human	known	74_37	missense	20.00	36	9	SNP	0.282	G
CSF3R	1441	genome.wustl.edu	37	1	36937229	36937229	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:36937229C>T	ENST00000373106.1	-	10	1637	c.1090G>A	c.(1090-1092)Gac>Aac	p.D364N	CSF3R_ENST00000440588.2_Missense_Mutation_p.D364N|CSF3R_ENST00000338937.5_Missense_Mutation_p.D364N|CSF3R_ENST00000361632.4_Missense_Mutation_p.D364N|CSF3R_ENST00000373104.1_Missense_Mutation_p.D364N|CSF3R_ENST00000373103.1_Missense_Mutation_p.D364N|CSF3R_ENST00000331941.5_Missense_Mutation_p.D364N|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000418048.2_Missense_Mutation_p.D364N	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	364	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CGTCCGCTGTCTTCCTCCAGG	0.587																																																	0													70.0	71.0	71.0					1																	36937229		2203	4300	6503	SO:0001583	missense	0			M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1090G>A	1.37:g.36937229C>T	ENSP00000362198:p.Asp364Asn			Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.D364N	ENST00000373106.1	37	c.1090	CCDS413.1	1	.	.	.	.	.	.	.	.	.	.	C	8.065	0.769042	0.15983	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38	5.2	-1.29	0.09288	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.556492	0.19993	N	0.101501	T	0.11750	0.0286	L	0.51422	1.61	0.09310	N	1	B;B;B;B	0.15141	0.007;0.004;0.003;0.012	B;B;B;B	0.13407	0.003;0.004;0.002;0.009	T	0.19095	-1.0316	10	0.33141	T	0.24	-3.2604	3.7385	0.08520	0.1777:0.3207:0.0:0.5017	.	364;364;364;364	E1B6W6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	N	364	ENSP00000362198:D364N;ENSP00000362196:D364N;ENSP00000362195:D364N;ENSP00000355406:D364N;ENSP00000332180:D364N;ENSP00000401588:D364N;ENSP00000345013:D364N;ENSP00000397568:D364N	ENSP00000332180:D364N	D	-	1	0	CSF3R	36709816	0.001000	0.12720	0.350000	0.25708	0.773000	0.43773	0.302000	0.19192	-0.091000	0.12440	-0.367000	0.07326	GAC	CSF3R	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000119535		0.587	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF3R	HGNC	protein_coding	OTTHUMT00000021997.2	-	0.00	76	0	C	NM_156039		36937229	-1	tier1	-	no_errors	ENST00000373103	ensembl	human	known	74_37	missense	32.43	25	12	SNP	0.001	T
CSMD1	64478	genome.wustl.edu	37	8	2800061	2800061	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr8:2800061C>T	ENST00000520002.1	-	70	11026	c.10471G>A	c.(10471-10473)Gct>Act	p.A3491T	CSMD1_ENST00000602723.1_Missense_Mutation_p.A3314T|CSMD1_ENST00000400186.3_Missense_Mutation_p.A3314T|CSMD1_ENST00000542608.1_Missense_Mutation_p.A3313T|CSMD1_ENST00000602557.1_Missense_Mutation_p.A3491T|CSMD1_ENST00000537824.1_Missense_Mutation_p.A3490T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3491						integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGAATGGCAGCCGCCACAGAG	0.408																																																	0													28.0	35.0	33.0					8																	2800061		1863	4098	5961	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.10471G>A	8.37:g.2800061C>T	ENSP00000430733:p.Ala3491Thr		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.A3491T	ENST00000520002.1	37	c.10471		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.04|18.04	3.534954|3.534954	0.64972|0.64972	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.32753|.	1.44;1.62;1.64;1.45|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74382|0.74382	0.3709|0.3709	L|L	0.61218|0.61218	1.895|1.895	0.80722|0.80722	D|D	1|1	D;D;D|.	0.71674|.	0.998;0.996;0.997|.	P;P;D|.	0.70716|.	0.863;0.858;0.97|.	T|T	0.71258|0.71258	-0.4646|-0.4646	10|5	0.37606|.	T|.	0.19|.	.|.	19.7363|19.7363	0.96205|0.96205	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3491;3491;3313|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	T|D	3314;3491;3352;3490;3313|2892	ENSP00000383047:A3314T;ENSP00000430733:A3491T;ENSP00000441462:A3490T;ENSP00000446243:A3313T|.	ENSP00000320445:A3352T|.	A|G	-|-	1|2	0|0	CSMD1|CSMD1	2787468|2787468	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.958000|0.958000	0.62258|0.62258	4.747000|4.747000	0.62141|0.62141	2.657000|2.657000	0.90304|0.90304	0.637000|0.637000	0.83480|0.83480	GCT|GGC	CSMD1	-	NULL	ENSG00000183117		0.408	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	-	0.00	102	0	C	NM_033225		2800061	-1	tier1	-	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T
CTBP2	1488	genome.wustl.edu	37	10	126715318	126715318	+	Intron	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:126715318G>A	ENST00000337195.5	-	3	458				CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000309035.6_Silent_p.G337G|CTBP2_ENST00000411419.2_Intron	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CACGGGCCTGGCCCAGGTTGG	0.697																																																	0													19.0	21.0	20.0					10																	126715318		2163	4211	6374	SO:0001627	intron_variant	0			AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.58+12247C>T	10.37:g.126715318G>A			A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom	p.G337	ENST00000337195.5	37	c.1011	CCDS7643.1	10																																																																																			CTBP2	-	NULL	ENSG00000175029		0.697	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTBP2	HGNC	protein_coding	OTTHUMT00000050900.3	-	0.00	24	0	G	NM_001083914		126715318	-1	tier1	-	no_errors	ENST00000309035	ensembl	human	known	74_37	silent	100.00	0	2	SNP	1.000	A
CTNNA2	1496	genome.wustl.edu	37	2	79914693	79914694	+	Intron	INS	-	-	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:79914693_79914694insT	ENST00000402739.4	+	1	107				CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000409266.1_Frame_Shift_Ins_p.I36fs|CTNNA2_ENST00000361291.4_Intron	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2						axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CTTGCAGTGCATTTTTTTTTCC	0.347																																																	0																																										SO:0001627	intron_variant	0				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.102+35909->T	2.37:g.79914702_79914702dupT			B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Frame_Shift_Ins	INS	superfamily_Vinculin/catenin	p.S39fs	ENST00000402739.4	37	c.106_107		2																																																																																			CTNNA2	-	NULL	ENSG00000066032		0.347	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	HGNC	protein_coding	OTTHUMT00000328511.4		0.00	54	0	-	NM_004389		79914694	+1	tier1		no_errors	ENST00000409266	ensembl	human	putative	74_37	frame_shift_ins	13.33	65	10	INS	0.005:0.005	T
CTNNBL1	56259	genome.wustl.edu	37	20	36488710	36488710	+	Nonsense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr20:36488710G>T	ENST00000361383.6	+	15	1684	c.1567G>T	c.(1567-1569)Gga>Tga	p.G523*	CTNNBL1_ENST00000373473.1_Nonsense_Mutation_p.G336*|CTNNBL1_ENST00000373469.1_Nonsense_Mutation_p.G271*|CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000405275.2_Nonsense_Mutation_p.G496*	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	523					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				AAACATGCGAGGAAGCTCCAT	0.443																																					Ovarian(184;582 2038 3273 4106 42608)												0													196.0	171.0	179.0					20																	36488710		2203	4300	6503	SO:0001587	stop_gained	0			AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"""nuclear associated protein"""	611537	"""chromosome 20 open reading frame 33"""	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.1567G>T	20.37:g.36488710G>T	ENSP00000355050:p.Gly523*		B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Nonsense_Mutation	SNP	pfam_CTNNBL1_N,superfamily_ARM-type_fold	p.G496*	ENST00000361383.6	37	c.1486	CCDS13298.1	20	.	.	.	.	.	.	.	.	.	.	G	41	8.607431	0.98884	.	.	ENSG00000132792	ENST00000361383;ENST00000405275;ENST00000373473;ENST00000373469	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-18.1222	18.0467	0.89335	0.0:0.0:1.0:0.0	.	.	.	.	X	523;496;336;271	.	ENSP00000355050:G523X	G	+	1	0	CTNNBL1	35922124	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	9.375000	0.97178	2.488000	0.83962	0.655000	0.94253	GGA	CTNNBL1	-	NULL	ENSG00000132792		0.443	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	CTNNBL1	HGNC	protein_coding	OTTHUMT00000079125.1		0.00	87	0	G	NM_030877		36488710	+1			no_errors	ENST00000405275	ensembl	human	known	74_37	nonsense	5.00	76	4	SNP	1.000	T
CTNND1	1500	genome.wustl.edu	37	11	57576892	57576892	+	Nonsense_Mutation	SNP	C	C	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr11:57576892C>T	ENST00000399050.4	+	15	2925	c.2389C>T	c.(2389-2391)Cga>Tga	p.R797*	CTNND1_ENST00000529986.1_Nonsense_Mutation_p.R690*|CTNND1_ENST00000528232.1_Nonsense_Mutation_p.R696*|CTNND1_ENST00000426142.2_Nonsense_Mutation_p.R690*|CTNND1_ENST00000531014.1_Nonsense_Mutation_p.R468*|CTNND1_ENST00000361332.4_Nonsense_Mutation_p.R791*|CTNND1_ENST00000532649.1_Nonsense_Mutation_p.R737*|CTNND1_ENST00000527467.1_Nonsense_Mutation_p.R474*|CTNND1_ENST00000428599.2_Nonsense_Mutation_p.R791*|CTNND1_ENST00000529873.1_Nonsense_Mutation_p.R737*|CTNND1_ENST00000532245.1_Nonsense_Mutation_p.R690*|CTNND1_ENST00000358694.6_Nonsense_Mutation_p.R791*|CTNND1_ENST00000526938.1_Nonsense_Mutation_p.R797*|CTNND1_ENST00000532463.1_Nonsense_Mutation_p.R690*|CTNND1_ENST00000529919.1_Nonsense_Mutation_p.R797*|CTNND1_ENST00000528621.1_Nonsense_Mutation_p.R737*|CTNND1_ENST00000361391.6_Nonsense_Mutation_p.R791*|CTNND1_ENST00000399039.4_Nonsense_Mutation_p.R797*|CTNND1_ENST00000533667.1_Nonsense_Mutation_p.R468*|CTNND1_ENST00000415361.2_Nonsense_Mutation_p.R696*|CTNND1_ENST00000360682.6_Nonsense_Mutation_p.R797*|CTNND1_ENST00000525902.1_Nonsense_Mutation_p.R474*|CTNND1_ENST00000529526.1_Nonsense_Mutation_p.R737*|CTNND1_ENST00000530748.1_Nonsense_Mutation_p.R743*|CTNND1_ENST00000361796.4_Nonsense_Mutation_p.R791*|CTNND1_ENST00000524630.1_Nonsense_Mutation_p.R791*|CTNND1_ENST00000526772.1_Nonsense_Mutation_p.R468*|CTNND1_ENST00000534579.1_Nonsense_Mutation_p.R737*|CTNND1_ENST00000532844.1_Nonsense_Mutation_p.R743*|CTNND1_ENST00000526357.1_Nonsense_Mutation_p.R737*|CTNND1_ENST00000532787.1_Nonsense_Mutation_p.R690*|CTNND1_ENST00000530094.1_Nonsense_Mutation_p.R690*	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	797					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CAAAAAGCTTCGAGAGACACA	0.433																																																	0													70.0	73.0	72.0					11																	57576892		1882	4108	5990	SO:0001587	stop_gained	0			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.2389C>T	11.37:g.57576892C>T	ENSP00000382004:p.Arg797*		A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Nonsense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R797*	ENST00000399050.4	37	c.2389	CCDS44604.1	11	.	.	.	.	.	.	.	.	.	.	C	45	11.306780	0.99544	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6456	19.4356	0.94792	0.0:1.0:0.0:0.0	.	.	.	.	X	791;797;797;797;791;737;690;797;791;791;690;690;791;690;468;737;737;743;791;474;696;468;468;737;474;743;737;690;696;690;737;797	.	ENSP00000351527:R791X	R	+	1	2	CTNND1	57333468	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.401000	0.44513	2.692000	0.91855	0.655000	0.94253	CGA	CTNND1	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000198561		0.433	CTNND1-006	KNOWN	basic|CCDS	protein_coding	CTNND1	HGNC	protein_coding	OTTHUMT00000393944.1	-	0.00	70	0	C	NM_001331		57576892	+1	tier1	-	no_errors	ENST00000399050	ensembl	human	known	74_37	nonsense	39.73	44	29	SNP	1.000	T
CWF19L1	55280	genome.wustl.edu	37	10	101996654	101996654	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:101996654G>T	ENST00000354105.4	-	12	1413	c.1327C>A	c.(1327-1329)Cag>Aag	p.Q443K	RP11-316M21.6_ENST00000444359.1_RNA|CWF19L1_ENST00000478047.1_5'UTR|SNORA12_ENST00000391162.1_RNA|CWF19L1_ENST00000370379.1_Intron	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	443							catalytic activity (GO:0003824)	p.Q443K(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		TCTATCTGCTGCTCCTGTGCC	0.463																																																	1	Substitution - Missense(1)	cervix(1)											205.0	191.0	196.0					10																	101996654		2203	4300	6503	SO:0001583	missense	0			AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.1327C>A	10.37:g.101996654G>T	ENSP00000326411:p.Gln443Lys		B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Missense_Mutation	SNP	pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like	p.Q443K	ENST00000354105.4	37	c.1327	CCDS7489.1	10	.	.	.	.	.	.	.	.	.	.	G	12.68	2.010875	0.35511	.	.	ENSG00000095485	ENST00000354105	T	0.17691	2.26	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.16514	0.0397	L	0.38838	1.175	0.58432	D	0.999999	B;B	0.24882	0.094;0.113	B;B	0.26517	0.07;0.051	T	0.04140	-1.0974	10	0.29301	T	0.29	-9.8246	16.4131	0.83725	0.0:0.0:1.0:0.0	.	147;443	Q69YN2-2;Q69YN2	.;C19L1_HUMAN	K	443	ENSP00000326411:Q443K	ENSP00000326411:Q443K	Q	-	1	0	CWF19L1	101986644	1.000000	0.71417	0.995000	0.50966	0.924000	0.55760	9.471000	0.97696	2.471000	0.83476	0.655000	0.94253	CAG	CWF19L1	-	NULL	ENSG00000095485		0.463	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CWF19L1	HGNC	protein_coding			0.00	80	0	G	NM_018294		101996654	-1			no_errors	ENST00000354105	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T
CYLC2	1539	genome.wustl.edu	37	9	105767543	105767543	+	Silent	SNP	A	A	G			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:105767543A>G	ENST00000374798.3	+	5	700	c.630A>G	c.(628-630)aaA>aaG	p.K210K	CYLC2_ENST00000487798.1_Silent_p.K210K	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	210	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				AAGGTGAAAAAGGAGGTACAG	0.358																																																	0													81.0	77.0	79.0					9																	105767543		2203	4300	6503	SO:0001819	synonymous_variant	0			Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.630A>G	9.37:g.105767543A>G			B2R8F4|Q5VVJ9	Silent	SNP	NULL	p.K210	ENST00000374798.3	37	c.630	CCDS35085.1	9																																																																																			CYLC2	-	NULL	ENSG00000155833		0.358	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	CYLC2	HGNC	protein_coding	OTTHUMT00000053463.3		0.00	12	0	A	NM_001340		105767543	+1			no_errors	ENST00000374798	ensembl	human	known	74_37	silent	7.14	26	2	SNP	0.000	G
CYP2G1P	22952	genome.wustl.edu	37	19	41404210	41404210	+	IGR	SNP	C	C	G			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:41404210C>G	ENST00000601627.1	+	0	575				CYP2G1P_ENST00000252909.4_RNA																							CACTCAGTTTCGAGGTTACCT	0.537																																																	0																																										SO:0001628	intergenic_variant	0																															19.37:g.41404210C>G				RNA	SNP	-	NULL	ENST00000601627.1	37	NULL		19	.	.	.	.	.	.	.	.	.	.	C	13.57	2.276673	0.40294	.	.	ENSG00000130612	ENST00000252909	.	.	.	3.5	1.07	0.20283	.	.	.	.	.	T	0.58163	0.2103	.	.	.	.	.	.	.	.	.	.	.	.	T	0.69540	-0.5118	4	0.87932	D	0	.	10.2155	0.43166	0.5972:0.4028:0.0:0.0	.	.	.	.	G	56	.	ENSP00000252909:R56G	R	+	1	2	AC008537.1	46096050	0.000000	0.05858	0.012000	0.15200	0.119000	0.20118	-0.270000	0.08584	0.644000	0.30656	0.205000	0.17691	CGA	CYP2G1P	-	-	ENSG00000130612		0.537	CTC-490E21.12-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	CYP2G1P	HGNC	protein_coding	OTTHUMT00000463921.1	-	0.00	202	0	C			41404210	+1	tier1	-	no_errors	ENST00000252909	ensembl	human	known	74_37	rna	37.96	66	41	SNP	0.078	G
CYP4X1	260293	genome.wustl.edu	37	1	47515828	47515828	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:47515828G>T	ENST00000371901.3	+	12	1762	c.1512G>T	c.(1510-1512)aaG>aaT	p.K504N	CYP4X1_ENST00000538609.1_Missense_Mutation_p.K503N	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	504						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TGCACCTGAAGAAACTCTCTG	0.418																																																	0													116.0	108.0	111.0					1																	47515828		2203	4300	6503	SO:0001583	missense	0			AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"""Cytochrome P450s"""	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.1512G>T	1.37:g.47515828G>T	ENSP00000360968:p.Lys504Asn		G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.K504N	ENST00000371901.3	37	c.1512	CCDS544.1	1	.	.	.	.	.	.	.	.	.	.	g	10.03	1.240112	0.22711	.	.	ENSG00000186377	ENST00000538609;ENST00000371901	T;T	0.80304	-1.36;-0.47	5.36	4.38	0.52667	.	0.301230	0.40818	N	0.001011	T	0.73753	0.3627	N	0.08118	0	0.34764	D	0.733055	B;D	0.57899	0.248;0.981	B;P	0.57548	0.091;0.823	T	0.81017	-0.1123	10	0.59425	D	0.04	.	9.5516	0.39313	0.1856:0.0:0.8144:0.0	.	504;503	Q8N118;G3V1U1	CP4X1_HUMAN;.	N	503;504	ENSP00000445965:K503N;ENSP00000360968:K504N	ENSP00000360968:K504N	K	+	3	2	CYP4X1	47288415	1.000000	0.71417	0.731000	0.30826	0.142000	0.21351	1.875000	0.39578	1.276000	0.44395	0.461000	0.40582	AAG	CYP4X1	-	superfamily_Cyt_P450	ENSG00000186377		0.418	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4X1	HGNC	protein_coding	OTTHUMT00000022017.1	-	0.00	68	0	G	NM_178033		47515828	+1	tier1	-	no_errors	ENST00000371901	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.750	T
DAB2IP	153090	genome.wustl.edu	37	9	124521267	124521267	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:124521267C>T	ENST00000408936.3	+	5	789	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S	DAB2IP_ENST00000309989.1_Missense_Mutation_p.P79S|DAB2IP_ENST00000259371.2_Missense_Mutation_p.P175S			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	203	C2.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						AGCGGTGCATCCCAACAAGGT	0.572																																																	0													77.0	67.0	70.0					9																	124521267		2203	4300	6503	SO:0001583	missense	0			AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.607C>T	9.37:g.124521267C>T	ENSP00000386183:p.Pro203Ser		A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.P203S	ENST00000408936.3	37	c.607		9	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780454	0.90195	.	.	ENSG00000136848	ENST00000394340;ENST00000436835;ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	D;D;D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21;-3.21;-3.21	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.97148	0.9068	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.97990	1.0354	10	0.87932	D	0	.	17.4451	0.87575	0.0:1.0:0.0:0.0	.	175	G3XA90	.	S	175;79;175;203;112;79	ENSP00000377872:P175S;ENSP00000409327:P79S;ENSP00000259371:P175S;ENSP00000386183:P203S;ENSP00000362887:P112S;ENSP00000310827:P79S	ENSP00000259371:P175S	P	+	1	0	DAB2IP	123561088	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	7.813000	0.86123	2.414000	0.81942	0.462000	0.41574	CCC	DAB2IP	-	superfamily_C2_dom,smart_Pleckstrin_homology	ENSG00000136848		0.572	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	DAB2IP	HGNC	protein_coding	OTTHUMT00000317857.1	-	0.00	74	0	C	NM_032552		124521267	+1	tier1	-	no_errors	ENST00000408936	ensembl	human	known	74_37	missense	26.92	19	7	SNP	1.000	T
DCDC1	341019	genome.wustl.edu	37	11	31329396	31329396	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr11:31329396G>T	ENST00000452803.1	-	4	425	c.224C>A	c.(223-225)tCt>tAt	p.S75Y	DCDC1_ENST00000597505.1_Missense_Mutation_p.S75Y|RP1-296L11.1_ENST00000528872.1_RNA	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	75					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GCCAAACTGAGACTGCAAATA	0.408																																																	0													194.0	183.0	187.0					11																	31329396		2202	4299	6501	SO:0001583	missense	0			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000452803.1:c.224C>A	11.37:g.31329396G>T	ENSP00000389792:p.Ser75Tyr		A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	pfscan_Doublecortin_dom	p.S75Y	ENST00000452803.1	37	c.224	CCDS7872.1	11	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335561	0.41398	.	.	ENSG00000188682	ENST00000452803	T	0.34275	1.37	5.9	3.0	0.34707	.	0.644940	0.14459	N	0.318295	T	0.19005	0.0456	N	0.08118	0	0.19945	N	0.999944	B	0.15719	0.014	B	0.10450	0.005	T	0.18085	-1.0348	10	0.72032	D	0.01	.	7.651	0.28348	0.3679:0.0:0.6321:0.0	.	75	P59894	DCDC1_HUMAN	Y	75	ENSP00000389792:S75Y	ENSP00000343496:S75Y	S	-	2	0	DCDC1	31285972	0.738000	0.28186	0.956000	0.39512	0.967000	0.64934	1.516000	0.35856	0.807000	0.34208	0.650000	0.86243	TCT	DCDC1	-	NULL	ENSG00000170959		0.408	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCDC1	HGNC	protein_coding	OTTHUMT00000316531.1		0.00	43	0	G	NM_181807		31329396	-1			no_errors	ENST00000452803	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.902	T
DAGLA	747	genome.wustl.edu	37	11	61488305	61488305	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr11:61488305G>T	ENST00000257215.5	+	3	366	c.250G>T	c.(250-252)Ggc>Tgc	p.G84C		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	84					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CATGCGCGGGGGCATCCTCTA	0.652																																																	0													75.0	70.0	71.0					11																	61488305		2202	4299	6501	SO:0001583	missense	0			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.250G>T	11.37:g.61488305G>T	ENSP00000257215:p.Gly84Cys		A7E233|Q6WQJ0	Missense_Mutation	SNP	pfam_Lipase_3	p.G84C	ENST00000257215.5	37	c.250	CCDS31578.1	11	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580830	0.65992	.	.	ENSG00000134780	ENST00000257215	T	0.24151	1.87	4.72	4.72	0.59763	.	0.094359	0.64402	D	0.000001	T	0.19967	0.0480	N	0.14661	0.345	0.46203	D	0.998926	P	0.47604	0.898	P	0.47786	0.557	T	0.01848	-1.1261	10	0.72032	D	0.01	-35.6556	9.5637	0.39385	0.1329:0.0:0.8671:0.0	.	84	Q9Y4D2	DGLA_HUMAN	C	84	ENSP00000257215:G84C	ENSP00000257215:G84C	G	+	1	0	DAGLA	61244881	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.771000	0.68881	2.337000	0.79520	0.561000	0.74099	GGC	DAGLA	-	NULL	ENSG00000134780		0.652	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLA	HGNC	protein_coding	OTTHUMT00000398516.1	-	0.00	54	0	G	NM_006133		61488305	+1	tier1	-	no_errors	ENST00000257215	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	T
DCLRE1A	9937	genome.wustl.edu	37	10	115612803	115612803	+	Silent	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:115612803G>T	ENST00000361384.2	-	1	1056	c.139C>A	c.(139-141)Cgg>Agg	p.R47R	DCLRE1A_ENST00000476112.1_5'Flank|NHLRC2_ENST00000369301.3_5'Flank|DCLRE1A_ENST00000369305.1_Silent_p.R47R	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	47	Nuclear localization region.				mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TTTCTACTCCGTTTTGACTGG	0.383								Other identified genes with known or suspected DNA repair function																																									0													108.0	112.0	111.0					10																	115612803		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.139C>A	10.37:g.115612803G>T			D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Silent	SNP	pfam_DRMBL	p.R47	ENST00000361384.2	37	c.139	CCDS7584.1	10																																																																																			DCLRE1A	-	NULL	ENSG00000198924		0.383	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1A	HGNC	protein_coding	OTTHUMT00000050444.1		0.00	66	0	G	NM_014881		115612803	-1			no_errors	ENST00000361384	ensembl	human	known	74_37	silent	6.45	58	4	SNP	0.305	T
DCST1	149095	genome.wustl.edu	37	1	155020636	155020636	+	Missense_Mutation	SNP	A	A	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:155020636A>T	ENST00000295542.1	+	16	1955	c.1859A>T	c.(1858-1860)cAg>cTg	p.Q620L	RP11-307C12.11_ENST00000452962.1_RNA|DCST1_ENST00000392480.1_Missense_Mutation_p.Q620L|DCST1_ENST00000368419.2_Missense_Mutation_p.Q620L|DCST1_ENST00000423025.2_Missense_Mutation_p.Q595L	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	620						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GAGCGACAGCAGAAGGCTCCG	0.582																																																	0													51.0	49.0	50.0					1																	155020636		2203	4300	6503	SO:0001583	missense	0			AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.1859A>T	1.37:g.155020636A>T	ENSP00000295542:p.Gln620Leu		B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	pfam_DC_STAMP-like,pfscan_Znf_RING	p.Q620L	ENST00000295542.1	37	c.1859	CCDS1083.1	1	.	.	.	.	.	.	.	.	.	.	a	13.18	2.159544	0.38119	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.25250	1.81;1.82;1.82;1.82	4.8	4.8	0.61643	.	0.965028	0.08571	N	0.926072	T	0.07324	0.0185	N	0.22421	0.69	0.33284	D	0.562604	P;P	0.46142	0.873;0.873	B;B	0.35931	0.214;0.214	T	0.06770	-1.0808	9	.	.	.	-30.3447	10.6307	0.45534	1.0:0.0:0.0:0.0	.	595;620	E9PHV3;Q5T197	.;DCST1_HUMAN	L	620;620;595;620	ENSP00000295542:Q620L;ENSP00000376271:Q620L;ENSP00000387369:Q595L;ENSP00000357404:Q620L	.	Q	+	2	0	DCST1	153287260	0.991000	0.36638	0.960000	0.40013	0.172000	0.22775	2.181000	0.42547	2.007000	0.58848	0.478000	0.44815	CAG	DCST1	-	NULL	ENSG00000163357		0.582	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCST1	HGNC	protein_coding	OTTHUMT00000099006.1		0.00	25	0	A	NM_152494		155020636	+1			no_errors	ENST00000295542	ensembl	human	known	74_37	missense	17.65	14	3	SNP	0.942	T
DDB1	1642	genome.wustl.edu	37	11	61068328	61068328	+	Silent	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr11:61068328G>A	ENST00000301764.7	-	26	3689	c.3292C>T	c.(3292-3294)Ctg>Ttg	p.L1098L	DDB1_ENST00000538470.1_Silent_p.L145L|DDB1_ENST00000450997.2_Silent_p.L409L|DDB1_ENST00000451943.2_Silent_p.L85L	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1098	Interaction with CDT1 and CUL4A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CTAATATCCAGGAAACTCTCA	0.542								Nucleotide excision repair (NER)																																									0													175.0	149.0	158.0					11																	61068328		2203	4299	6502	SO:0001819	synonymous_variant	0			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.3292C>T	11.37:g.61068328G>A			A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Silent	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.L1098	ENST00000301764.7	37	c.3292	CCDS31576.1	11																																																																																			DDB1	-	pfam_Cleavage/polyA-sp_fac_asu_C	ENSG00000167986		0.542	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	DDB1	HGNC	protein_coding	OTTHUMT00000398816.1	-	0.00	143	0	G	NM_001923		61068328	-1	tier1	-	no_errors	ENST00000301764	ensembl	human	known	74_37	silent	16.13	78	15	SNP	1.000	A
DMAP1	55929	genome.wustl.edu	37	1	44684856	44684856	+	Silent	SNP	C	C	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:44684856C>T	ENST00000372289.2	+	6	1112	c.849C>T	c.(847-849)cgC>cgT	p.R283R	DMAP1_ENST00000488433.1_3'UTR|DMAP1_ENST00000315913.5_Silent_p.R283R|DMAP1_ENST00000361745.6_Silent_p.R283R	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	283					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription factor import into nucleus (GO:0042993)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|RNA polymerase II repressing transcription factor binding (GO:0001103)|transcription corepressor activity (GO:0003714)			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					AGCAGCGGCGCACGGAACGCA	0.622																																																	0													49.0	54.0	52.0					1																	44684856		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037846	CCDS509.1	1p34	2009-07-13			ENSG00000178028	ENSG00000178028			18291	protein-coding gene	gene with protein product		605077				10888872, 10718198	Standard	XM_005271039		Approved	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4	uc001clq.1	Q9NPF5	OTTHUMG00000007577	ENST00000372289.2:c.849C>T	1.37:g.44684856C>T			A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	Silent	SNP	pfam_DMAP1,superfamily_Homeodomain-like	p.R283	ENST00000372289.2	37	c.849	CCDS509.1	1																																																																																			DMAP1	-	pfam_DMAP1	ENSG00000178028		0.622	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DMAP1	HGNC	protein_coding	OTTHUMT00000020027.3	-	0.00	51	0	C	NM_019100		44684856	+1	tier1	-	no_errors	ENST00000315913	ensembl	human	known	74_37	silent	30.43	16	7	SNP	0.999	T
DMD	1756	genome.wustl.edu	37	X	32509576	32509576	+	Nonsense_Mutation	SNP	C	C	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chrX:32509576C>A	ENST00000357033.4	-	20	2646	c.2440G>T	c.(2440-2442)Gaa>Taa	p.E814*	DMD_ENST00000378677.2_Nonsense_Mutation_p.E810*	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	814					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGGCAGAATTCGATCCACCGG	0.408																																																	0													82.0	66.0	72.0					X																	32509576		2202	4300	6502	SO:0001587	stop_gained	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.2440G>T	X.37:g.32509576C>A	ENSP00000354923:p.Glu814*		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.E814*	ENST00000357033.4	37	c.2440	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	C	42	9.187096	0.99094	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	.	.	.	4.94	4.07	0.47477	.	0.000000	0.37348	U	0.002133	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	13.0022	0.58683	0.0:0.9185:0.0:0.0815	.	.	.	.	X	806;810;814;814;691	.	ENSP00000354923:E814X	E	-	1	0	DMD	32419497	1.000000	0.71417	0.202000	0.23494	0.984000	0.73092	5.634000	0.67833	0.990000	0.38787	0.429000	0.28392	GAA	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.408	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	-	0.00	35	0	C	NM_004006		32509576	-1	tier1	-	no_errors	ENST00000357033	ensembl	human	known	74_37	nonsense	29.41	24	10	SNP	0.939	A
DMRT1	1761	genome.wustl.edu	37	9	968057	968057	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:968057G>T	ENST00000382276.3	+	5	1189	c.1040G>T	c.(1039-1041)aGc>aTc	p.S347I	DMRT1_ENST00000569227.1_Missense_Mutation_p.S189I	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	347	Pro/Ser-rich.				cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		AGTAACAAGAGCACAAAGGCA	0.552																																																	0													68.0	61.0	63.0					9																	968057		2203	4300	6503	SO:0001583	missense	0			AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"""DM domain expressed in testis 1"""	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.1040G>T	9.37:g.968057G>T	ENSP00000371711:p.Ser347Ile		B2R913|Q6T1H8|Q6T1H9|Q8IW77	Missense_Mutation	SNP	pfam_DM_DNA-bd,pfam_DMRT1-like,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.S347I	ENST00000382276.3	37	c.1040	CCDS6442.1	9	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086129	0.55861	.	.	ENSG00000137090	ENST00000382276	T	0.19938	2.11	5.49	4.59	0.56863	.	0.129173	0.53938	D	0.000050	T	0.31606	0.0802	L	0.43646	1.37	0.42614	D	0.993328	D	0.61080	0.989	P	0.55087	0.768	T	0.05869	-1.0859	10	0.56958	D	0.05	.	14.5647	0.68168	0.0702:0.0:0.9298:0.0	.	347	Q9Y5R6	DMRT1_HUMAN	I	347	ENSP00000371711:S347I	ENSP00000371711:S347I	S	+	2	0	DMRT1	958057	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.696000	0.54757	1.469000	0.48083	-0.136000	0.14681	AGC	DMRT1	-	NULL	ENSG00000137090		0.552	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRT1	HGNC	protein_coding	OTTHUMT00000051489.2		0.00	67	0	G	NM_021951		968057	+1			no_errors	ENST00000382276	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T
DNAH5	1767	genome.wustl.edu	37	5	13928243	13928243	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:13928243G>T	ENST00000265104.4	-	3	341	c.237C>A	c.(235-237)caC>caA	p.H79Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	79	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAAACATGAGGTGTCGGAGAC	0.358									Kartagener syndrome																																								0													108.0	109.0	109.0					5																	13928243		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.237C>A	5.37:g.13928243G>T	ENSP00000265104:p.His79Gln		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.H79Q	ENST00000265104.4	37	c.237	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252991	0.22965	.	.	ENSG00000039139	ENST00000265104	T	0.21543	2.0	5.32	2.48	0.30137	.	0.000000	0.85682	D	0.000000	T	0.18676	0.0448	M	0.63428	1.95	0.49051	D	0.999746	B	0.15719	0.014	B	0.14023	0.01	T	0.05683	-1.0870	10	0.15066	T	0.55	.	8.75	0.34609	0.368:0.0:0.632:0.0	.	79	Q8TE73	DYH5_HUMAN	Q	79	ENSP00000265104:H79Q	ENSP00000265104:H79Q	H	-	3	2	DNAH5	13981243	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.224000	0.32539	0.711000	0.32018	0.655000	0.94253	CAC	DNAH5	-	NULL	ENSG00000039139		0.358	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0.00	41	0	G	NM_001369		13928243	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T
DNASE2B	58511	genome.wustl.edu	37	1	84867689	84867689	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:84867689G>T	ENST00000370665.3	+	2	264	c.231G>T	c.(229-231)gaG>gaT	p.E77D		NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	77					apoptotic DNA fragmentation (GO:0006309)	extracellular region (GO:0005576)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		GGAAGAGTGAGCAACTAATGA	0.378																																					Pancreas(54;788 1175 11852 16034 30034)												0													81.0	79.0	80.0					1																	84867689		1899	4123	6022	SO:0001583	missense	0			AF274571	CCDS694.1, CCDS44167.1	1p22.3	2008-02-05			ENSG00000137976	ENSG00000137976			28875	protein-coding gene	gene with protein product		608057				12594037, 11376952	Standard	NM_021233		Approved	DLAD	uc001djt.1	Q8WZ79	OTTHUMG00000009860	ENST00000370665.3:c.231G>T	1.37:g.84867689G>T	ENSP00000359699:p.Glu77Asp		Q5VXD0|Q5VXD1|Q8WZ80|Q9NQW3	Missense_Mutation	SNP	pfam_DNase_II	p.E77D	ENST00000370665.3	37	c.231	CCDS44167.1	1	.	.	.	.	.	.	.	.	.	.	G	8.842	0.942452	0.18281	.	.	ENSG00000137976	ENST00000370665	T	0.14266	2.52	5.65	1.65	0.23941	.	0.480129	0.23508	N	0.047426	T	0.01730	0.0055	N	0.17082	0.46	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.47674	-0.9099	10	0.14656	T	0.56	-13.2532	5.1888	0.15199	0.3703:0.1476:0.4821:0.0	.	77	Q8WZ79	DNS2B_HUMAN	D	77	ENSP00000359699:E77D	ENSP00000359699:E77D	E	+	3	2	DNASE2B	84640277	0.125000	0.22332	0.058000	0.19502	0.747000	0.42532	1.428000	0.34892	0.321000	0.23259	0.467000	0.42956	GAG	DNASE2B	-	pfam_DNase_II	ENSG00000137976		0.378	DNASE2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNASE2B	HGNC	protein_coding	OTTHUMT00000027248.1	-	0.00	62	0	G	NM_021233		84867689	+1	tier1	-	no_errors	ENST00000370665	ensembl	human	known	74_37	missense	19.74	61	15	SNP	0.000	T
DOT1L	84444	genome.wustl.edu	37	19	2211201	2211201	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:2211201G>T	ENST00000398665.3	+	15	1491	c.1455G>T	c.(1453-1455)caG>caT	p.Q485H	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	485					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCGCTGCAGAAGCTTCTAG	0.682																																																	0													27.0	31.0	30.0					19																	2211201		2010	4171	6181	SO:0001583	missense	0			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.1455G>T	19.37:g.2211201G>T	ENSP00000381657:p.Gln485His		O60379|Q96JL1	Missense_Mutation	SNP	pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met	p.Q485H	ENST00000398665.3	37	c.1455	CCDS42460.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.42|14.42	2.529474|2.529474	0.44969|0.44969	.|.	.|.	ENSG00000104885|ENSG00000104885	ENST00000398665;ENST00000221482|ENST00000440640	T|.	0.33654|.	1.4|.	4.5|4.5	0.851|0.851	0.18989|0.18989	.|.	0.120564|.	0.64402|.	N|.	0.000020|.	T|T	0.44008|0.44008	0.1273|0.1273	L|L	0.33485|0.33485	1.01|1.01	0.37659|0.37659	D|D	0.922697|0.922697	B|.	0.16802|.	0.019|.	B|.	0.19391|.	0.025|.	T|T	0.36359|0.36359	-0.9751|-0.9751	10|5	0.87932|.	D|.	0|.	-19.5275|-19.5275	8.9706|8.9706	0.35903|0.35903	0.0826:0.2925:0.6249:0.0|0.0826:0.2925:0.6249:0.0	.|.	485|.	Q8TEK3-2|.	.|.	H|I	485|272	ENSP00000381657:Q485H|.	ENSP00000221482:Q485H|.	Q|R	+|+	3|2	2|0	DOT1L|DOT1L	2162201|2162201	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.974000|0.974000	0.67602|0.67602	2.591000|2.591000	0.46163|0.46163	0.427000|0.427000	0.26145|0.26145	0.561000|0.561000	0.74099|0.74099	CAG|AGA	DOT1L	-	pirsf_Histone_H3-K79_MeTrfase_met	ENSG00000104885		0.682	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOT1L	HGNC	protein_coding	OTTHUMT00000318066.1	-	0.00	43	0	G	NM_032482		2211201	+1	tier1	-	no_errors	ENST00000398665	ensembl	human	known	74_37	missense	100.00	0	2	SNP	1.000	T
DPP6	1804	genome.wustl.edu	37	7	154564561	154564561	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr7:154564561A>G	ENST00000377770.3	+	10	1186	c.1045A>G	c.(1045-1047)Agt>Ggt	p.S349G	DPP6_ENST00000332007.3_Missense_Mutation_p.S287G|DPP6_ENST00000404039.1_Missense_Mutation_p.S285G|DPP6_ENST00000427557.1_Missense_Mutation_p.S242G			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	349					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CCAGGCTGGAAGTGAGAACCC	0.502																																					NSCLC(125;1384 1783 2490 7422 34254)												0													94.0	87.0	89.0					7																	154564561		1925	4133	6058	SO:0001583	missense	0			M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1045A>G	7.37:g.154564561A>G	ENSP00000367001:p.Ser349Gly			Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40	p.S349G	ENST00000377770.3	37	c.1045		7	.	.	.	.	.	.	.	.	.	.	A	9.840	1.190766	0.21954	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	4.99	2.55	0.30701	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.684929	0.15668	N	0.250541	T	0.33760	0.0874	M	0.70275	2.135	0.19775	N	0.999955	B;P;P;P	0.37122	0.254;0.528;0.583;0.583	B;B;B;B	0.38020	0.263;0.049;0.109;0.13	T	0.12578	-1.0542	10	0.51188	T	0.08	-7.0185	10.3818	0.44117	0.5841:0.0:0.0:0.4159	.	242;287;349;285	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	G	285;349;287;242	ENSP00000385578:S285G;ENSP00000367001:S349G;ENSP00000328226:S287G;ENSP00000397303:S242G	ENSP00000328226:S287G	S	+	1	0	DPP6	154195494	0.982000	0.34865	0.920000	0.36463	0.610000	0.37248	2.142000	0.42177	0.230000	0.21059	-0.339000	0.08088	AGT	DPP6	-	pfam_Peptidase_S9B	ENSG00000130226		0.502	DPP6-003	KNOWN	basic|appris_principal	protein_coding	DPP6	HGNC	protein_coding	OTTHUMT00000322932.1	-	0.00	68	0	A	NM_130797		154564561	+1	tier1	-	no_errors	ENST00000377770	ensembl	human	known	74_37	missense	30.77	27	12	SNP	0.341	G
DSPP	1834	genome.wustl.edu	37	4	88535199	88535199	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr4:88535199G>T	ENST00000282478.7	+	4	1418	c.1385G>T	c.(1384-1386)gGa>gTa	p.G462V	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.G462V			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	462	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		TCCATGCAAGGAGATGATCCC	0.383																																																	0													141.0	133.0	136.0					4																	88535199		2019	4182	6201	SO:0001583	missense	0			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.1385G>T	4.37:g.88535199G>T	ENSP00000282478:p.Gly462Val		A8MUI0|O95815	Missense_Mutation	SNP	NULL	p.G462V	ENST00000282478.7	37	c.1385	CCDS43248.1	4	.	.	.	.	.	.	.	.	.	.	G	9.129	1.010874	0.19277	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.94376	-3.41;-3.41	4.59	2.74	0.32292	.	0.706089	0.11068	N	0.603216	D	0.95971	0.8688	M	0.78049	2.395	0.47862	D	0.999531	D	0.71674	0.998	D	0.64321	0.924	D	0.92873	0.6316	10	0.62326	D	0.03	-2.4329	12.179	0.54202	0.0:0.3317:0.6683:0.0	.	462	Q9NZW4	DSPP_HUMAN	V	462	ENSP00000382213:G462V;ENSP00000282478:G462V	ENSP00000282478:G462V	G	+	2	0	DSPP	88754223	1.000000	0.71417	0.997000	0.53966	0.430000	0.31655	2.758000	0.47565	0.304000	0.22809	0.446000	0.29264	GGA	DSPP	-	NULL	ENSG00000152591		0.383	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3		0.00	55	0	G	NM_014208		88535199	+1			no_errors	ENST00000282478	ensembl	human	known	74_37	missense	8.33	33	3	SNP	1.000	T
DYNLRB1	83658	genome.wustl.edu	37	20	33122442	33122442	+	Silent	SNP	C	C	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr20:33122442C>A	ENST00000357156.2	+	3	140	c.90C>A	c.(88-90)atC>atA	p.I30I	DYNLRB1_ENST00000417166.2_Silent_p.I30I|DYNLRB1_ENST00000374846.3_Silent_p.I82I|DYNLRB1_ENST00000480759.1_3'UTR	NM_001281727.1|NM_001281728.1|NM_014183.2|NM_177953.2	NP_001268656.1|NP_001268657.1|NP_054902.1|NP_808852.1	Q9NP97	DLRB1_HUMAN	dynein, light chain, roadblock-type 1	30					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|transport (GO:0006810)|visual behavior (GO:0007632)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(1)	3						GCATTCCCATCAAGAGCACCA	0.597																																																	0													115.0	88.0	97.0					20																	33122442		2203	4300	6503	SO:0001819	synonymous_variant	0			AF132750	CCDS13235.1	20q11.21	2008-01-18	2005-11-25	2005-11-25	ENSG00000125971	ENSG00000125971		"""Cytoplasmic dyneins"""	15468	protein-coding gene	gene with protein product	"""roadblock domain containing 1"""	607167	"""dynein, cytoplasmic, light polypeptide 2A"""	DNCL2A		11750132, 16260502	Standard	NM_177953		Approved	DNLC2A, ROBLD1	uc002xal.3	Q9NP97	OTTHUMG00000032302	ENST00000357156.2:c.90C>A	20.37:g.33122442C>A			B1AKR5|Q5TC72|Q96IV3|Q9NQM2	Silent	SNP	pfam_Dynein_light-rel,smart_Dynein_light-rel	p.I30	ENST00000357156.2	37	c.90	CCDS13235.1	20																																																																																			DYNLRB1	-	pfam_Dynein_light-rel,smart_Dynein_light-rel	ENSG00000125971		0.597	DYNLRB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNLRB1	HGNC	protein_coding	OTTHUMT00000078791.1	-	0.00	56	0	C	NM_014183		33122442	+1	tier1	-	no_errors	ENST00000417166	ensembl	human	known	74_37	silent	7.41	49	4	SNP	1.000	A
DYSF	8291	genome.wustl.edu	37	2	71838712	71838712	+	Missense_Mutation	SNP	C	C	T	rs368601323		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:71838712C>T	ENST00000258104.3	+	38	4400	c.4123C>T	c.(4123-4125)Cgg>Tgg	p.R1375W	DYSF_ENST00000409744.1_Missense_Mutation_p.R1362W|DYSF_ENST00000409762.1_Missense_Mutation_p.R1392W|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Missense_Mutation_p.R1375W|DYSF_ENST00000413539.2_Missense_Mutation_p.R1406W|DYSF_ENST00000409582.3_Missense_Mutation_p.R1392W|DYSF_ENST00000409651.1_Missense_Mutation_p.R1407W|DYSF_ENST00000409366.1_Missense_Mutation_p.R1376W|DYSF_ENST00000410020.3_Missense_Mutation_p.R1393W|DYSF_ENST00000410041.1_Missense_Mutation_p.R1393W|DYSF_ENST00000394120.2_Missense_Mutation_p.R1376W	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1375	C2 5. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAGGAACCTCCGGAAGAACCC	0.577																																																	0													58.0	56.0	57.0					2																	71838712		2203	4300	6503	SO:0001583	missense	0			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4123C>T	2.37:g.71838712C>T	ENSP00000258104:p.Arg1375Trp		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom	p.R1406W	ENST00000258104.3	37	c.4216	CCDS1918.1	2	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624353	0.87560	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66	5.78	4.83	0.62350	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.103860	0.64402	D	0.000003	D	0.82825	0.5121	L	0.34521	1.04	0.41309	D	0.987091	D;D;D;D;D;P;P;P;P;D;D;P;D;D;D	0.58970	0.978;0.972;0.972;0.972;0.972;0.943;0.943;0.943;0.906;0.972;0.984;0.952;0.972;0.972;0.977	P;P;P;P;P;P;P;P;P;P;P;P;P;P;P	0.58077	0.773;0.742;0.742;0.742;0.742;0.54;0.54;0.54;0.54;0.742;0.54;0.54;0.742;0.742;0.832	D	0.83956	0.0319	10	0.87932	D	0	-25.0615	10.6676	0.45739	0.3105:0.6895:0.0:0.0	.	118;1407;1393;1376;1362;1393;1362;1392;1361;1406;1392;1375;1361;1376;1375	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	W	1406;1392;1392;1375;1375;1407;1376;1362;1376;1393;1393	ENSP00000407046:R1406W;ENSP00000387137:R1392W;ENSP00000386547:R1392W;ENSP00000398305:R1375W;ENSP00000258104:R1375W;ENSP00000386683:R1407W;ENSP00000377678:R1376W;ENSP00000386285:R1362W;ENSP00000386512:R1376W;ENSP00000386881:R1393W;ENSP00000386617:R1393W	ENSP00000258104:R1375W	R	+	1	2	DYSF	71692220	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.632000	0.61311	2.739000	0.93911	0.561000	0.74099	CGG	DYSF	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom	ENSG00000135636		0.577	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3	-	0.00	122	0	C	NM_003494		71838712	+1	tier1	-	no_errors	ENST00000413539	ensembl	human	known	74_37	missense	32.69	35	17	SNP	1.000	T
DZIP1L	199221	genome.wustl.edu	37	3	137781729	137781729	+	Missense_Mutation	SNP	G	G	T	rs146029706	byFrequency	TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr3:137781729G>T	ENST00000327532.2	-	16	2595	c.2233C>A	c.(2233-2235)Cgc>Agc	p.R745S		NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	745					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						AGCTTTGAGCGAGACAAGGGC	0.567																																																	0													86.0	87.0	86.0					3																	137781729		2203	4300	6503	SO:0001583	missense	0			AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"""DAZ interacting protein 1-like"""			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.2233C>A	3.37:g.137781729G>T	ENSP00000332148:p.Arg745Ser		C9JUG5|Q96M38	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.R745S	ENST00000327532.2	37	c.2233	CCDS3096.1	3	.	.	.	.	.	.	.	.	.	.	G	3.795	-0.042844	0.07452	.	.	ENSG00000158163	ENST00000327532	T	0.10192	2.9	4.7	0.63	0.17693	.	1.145360	0.06696	N	0.770528	T	0.07818	0.0196	L	0.29908	0.895	0.09310	N	1	B	0.34372	0.451	B	0.32090	0.14	T	0.36866	-0.9730	10	0.49607	T	0.09	-0.568	4.1174	0.10088	0.2771:0.0:0.5638:0.1591	.	745	Q8IYY4	DZI1L_HUMAN	S	745	ENSP00000332148:R745S	ENSP00000332148:R745S	R	-	1	0	DZIP1L	139264419	0.011000	0.17503	0.002000	0.10522	0.125000	0.20455	0.205000	0.17356	0.074000	0.16767	-0.222000	0.12452	CGC	DZIP1L	-	NULL	ENSG00000158163		0.567	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP1L	HGNC	protein_coding	OTTHUMT00000357548.1	-	0.00	56	0	G	NM_173543		137781729	-1	tier1	-	no_errors	ENST00000327532	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.001	T
EDN3	1908	genome.wustl.edu	37	20	57896131	57896131	+	Missense_Mutation	SNP	C	C	T	rs536097197		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr20:57896131C>T	ENST00000337938.2	+	3	811	c.425C>T	c.(424-426)gCg>gTg	p.A142V	EDN3_ENST00000371025.3_Missense_Mutation_p.A142V|EDN3_ENST00000311585.7_Missense_Mutation_p.A142V|EDN3_ENST00000395654.3_Missense_Mutation_p.A142V|EDN3_ENST00000371028.2_Missense_Mutation_p.A142V	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3	142					blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inositol phosphate-mediated signaling (GO:0048016)|melanocyte differentiation (GO:0030318)|multicellular organismal development (GO:0007275)|neural crest cell migration (GO:0001755)|neuron differentiation (GO:0030182)|neutrophil chemotaxis (GO:0030593)|peptide hormone secretion (GO:0030072)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|regulation of developmental pigmentation (GO:0048070)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|signal transduction (GO:0007165)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					AAGAGGTCTGCGGGGCCACTT	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		19264	0.0		0.0	False		,,,				2504	0.001																0													100.0	89.0	93.0					20																	57896131		2203	4300	6503	SO:0001583	missense	0			X52001	CCDS13477.1, CCDS13478.1, CCDS13479.1	20q13.2-q13.3	2013-02-26			ENSG00000124205	ENSG00000124205		"""Endogenous ligands"""	3178	protein-coding gene	gene with protein product		131242					Standard	NM_000114		Approved	ET3	uc002yaq.3	P14138	OTTHUMG00000032867	ENST00000337938.2:c.425C>T	20.37:g.57896131C>T	ENSP00000337128:p.Ala142Val		E1P5I5|Q03229|Q7Z6D2|Q9UGT7	Missense_Mutation	SNP	pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D	p.A142V	ENST00000337938.2	37	c.425	CCDS13477.1	20	.	.	.	.	.	.	.	.	.	.	C	10.61	1.397968	0.25205	.	.	ENSG00000124205	ENST00000337938;ENST00000311585;ENST00000371028;ENST00000371025;ENST00000395654	D;D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2;-2.2	4.87	-1.32	0.09201	.	1.390750	0.05277	N	0.518649	T	0.81307	0.4795	L	0.42245	1.32	0.09310	N	1	B;B;B;B	0.28378	0.169;0.209;0.105;0.152	B;B;B;B	0.26864	0.074;0.018;0.033;0.008	T	0.62756	-0.6787	10	0.23891	T	0.37	-2.4125	9.5053	0.39042	0.0:0.775:0.0:0.225	.	142;142;142;142	P14138-2;Q7Z6D2;P14138;Q4FAT2	.;.;EDN3_HUMAN;.	V	142	ENSP00000337128:A142V;ENSP00000311854:A142V;ENSP00000360067:A142V;ENSP00000360064:A142V;ENSP00000379015:A142V	ENSP00000311854:A142V	A	+	2	0	EDN3	57329526	0.000000	0.05858	0.000000	0.03702	0.352000	0.29268	-0.295000	0.08298	-0.433000	0.07286	-0.367000	0.07326	GCG	EDN3	-	NULL	ENSG00000124205		0.582	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EDN3	HGNC	protein_coding	OTTHUMT00000079919.2	-	0.00	116	0	C	NM_000114		57896131	+1	tier1	-	no_errors	ENST00000337938	ensembl	human	known	74_37	missense	60.71	22	34	SNP	0.000	T
EEF1D	1936	genome.wustl.edu	37	8	144662314	144662314	+	Silent	SNP	C	C	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr8:144662314C>T	ENST00000529272.1	-	7	1075	c.675G>A	c.(673-675)ggG>ggA	p.G225G	NAPRT1_ENST00000426292.3_5'Flank|EEF1D_ENST00000532741.1_Silent_p.G641G|NAPRT1_ENST00000435154.3_5'Flank|EEF1D_ENST00000524624.1_Silent_p.G201G|EEF1D_ENST00000423316.2_Silent_p.G591G|NAPRT1_ENST00000276844.7_5'Flank|EEF1D_ENST00000419152.2_Silent_p.G225G|EEF1D_ENST00000317198.6_Silent_p.G225G|NAPRT1_ENST00000449291.2_5'Flank|EEF1D_ENST00000442189.2_Silent_p.G591G|EEF1D_ENST00000531621.1_Silent_p.G182G|EEF1D_ENST00000528610.1_Silent_p.G201G|RP11-661A12.9_ENST00000531730.1_RNA|EEF1D_ENST00000532400.1_Missense_Mutation_p.G41D|EEF1D_ENST00000395119.3_Silent_p.G225G|EEF1D_ENST00000526838.1_Silent_p.G206G|RP11-661A12.7_ENST00000529247.1_RNA			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	225	Catalytic (GEF).				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CCCAGACCAGCCCGTCCAGCT	0.622																																																	0													35.0	40.0	38.0					8																	144662314		2203	4299	6502	SO:0001819	synonymous_variant	0			AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.675G>A	8.37:g.144662314C>T			B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Missense_Mutation	SNP	NULL	p.G41D	ENST00000529272.1	37	c.122	CCDS6405.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.59|15.59	2.878242|2.878242	0.51801|0.51801	.|.	.|.	ENSG00000104529|ENSG00000104529	ENST00000530109|ENST00000532400	.|.	.|.	.|.	4.84|4.84	1.63|1.63	0.23807|0.23807	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62245|0.62245	0.2412|0.2412	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.61997|0.61997	-0.6947|-0.6947	4|6	.|0.66056	.|D	.|0.02	.|.	7.5675|7.5675	0.27887|0.27887	0.0:0.5958:0.2313:0.1728|0.0:0.5958:0.2313:0.1728	.|.	.|.	.|.	.|.	T|D	100|41	.|.	.|ENSP00000433784:G41D	A|G	-|-	1|2	0|0	EEF1D|EEF1D	144733457|144733457	0.263000|0.263000	0.24083|0.24083	0.999000|0.999000	0.59377|0.59377	0.973000|0.973000	0.67179|0.67179	-0.535000|-0.535000	0.06142|0.06142	0.560000|0.560000	0.29169|0.29169	-0.225000|-0.225000	0.12378|0.12378	GCT|GGC	EEF1D	-	NULL	ENSG00000104529		0.622	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	EEF1D	HGNC	protein_coding	OTTHUMT00000382592.2	-	0.00	67	0	C	NM_032378		144662314	-1	tier1	-	no_errors	ENST00000532400	ensembl	human	novel	74_37	missense	34.88	28	15	SNP	0.997	T
EEF2	1938	genome.wustl.edu	37	19	3982032	3982032	+	Silent	SNP	G	G	A	rs201754413		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:3982032G>A	ENST00000309311.6	-	6	898	c.810C>T	c.(808-810)aaC>aaT	p.N270N	SNORD37_ENST00000384048.1_RNA|EEF2_ENST00000600720.1_5'Flank	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	270	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAACTTGCCGTTGGCTGGGT	0.587																																					Colon(165;1804 1908 4071 6587 18799)												0								G		0,4406		0,0,2203	99.0	90.0	93.0		810	-12.1	0.0	19		93	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	EEF2	NM_001961.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		270/859	3982032	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.810C>T	19.37:g.3982032G>A			B2RMP5|D6W618|Q58J86	Silent	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.N270	ENST00000309311.6	37	c.810	CCDS12117.1	19																																																																																			EEF2	-	pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase	ENSG00000167658		0.587	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2	HGNC	protein_coding	OTTHUMT00000457615.2	-	0.00	122	0	G	NM_001961		3982032	-1	tier1	rs201754413	no_errors	ENST00000309311	ensembl	human	known	74_37	silent	37.84	23	14	SNP	0.000	A
EFTUD1	79631	genome.wustl.edu	37	15	82444463	82444463	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr15:82444463G>T	ENST00000268206.7	-	18	2500	c.2332C>A	c.(2332-2334)Cag>Aag	p.Q778K	EFTUD1_ENST00000359445.3_Missense_Mutation_p.Q727K	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	778					GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						GATGTCAACTGCTCCATAGAA	0.428																																																	0													109.0	100.0	103.0					15																	82444463		1871	4117	5988	SO:0001583	missense	0			AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"""ribosome assembly 1 homolog (yeast)"""					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.2332C>A	15.37:g.82444463G>T	ENSP00000268206:p.Gln778Lys		A6NKY5|B7Z6I0|Q9H8Z6	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_EFG_III-V,superfamily_Transl_B-barrel,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.Q778K	ENST00000268206.7	37	c.2332	CCDS42071.1	15	.	.	.	.	.	.	.	.	.	.	G	10.64	1.407599	0.25378	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.24538	1.85;1.85	5.94	5.0	0.66597	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.289199	0.24200	N	0.040638	T	0.14830	0.0358	N	0.14661	0.345	0.54753	D	0.999985	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.06144	-1.0843	10	0.05833	T	0.94	-8.1131	16.3759	0.83392	0.0:0.0:0.8672:0.1328	.	727;778	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	K	778;727	ENSP00000268206:Q778K;ENSP00000352418:Q727K	ENSP00000268206:Q778K	Q	-	1	0	EFTUD1	80231518	1.000000	0.71417	0.657000	0.29651	0.830000	0.47004	9.096000	0.94182	1.468000	0.48064	0.563000	0.77884	CAG	EFTUD1	-	superfamily_Ribosomal_S5_D2-typ_fold	ENSG00000140598		0.428	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EFTUD1	HGNC	protein_coding	OTTHUMT00000419252.1		0.00	51	0	G	NM_024580		82444463	-1			no_errors	ENST00000268206	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T
EIF4B	1975	genome.wustl.edu	37	12	53400186	53400186	+	5'UTR	SNP	C	C	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr12:53400186C>T	ENST00000262056.9	+	0	245				EIF4B_ENST00000551527.1_3'UTR|EIF4B_ENST00000420463.3_5'Flank|EIF4B_ENST00000416762.3_5'Flank	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CTCCCAGCTTCGCGTCTCCTA	0.657																																																	0													42.0	40.0	41.0					12																	53400186		692	1591	2283	SO:0001623	5_prime_UTR_variant	0			X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"""RNA binding motif (RRM) containing"""	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.-82C>T	12.37:g.53400186C>T			Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	RNA	SNP	-	NULL	ENST00000262056.9	37	NULL	CCDS41788.1	12																																																																																			EIF4B	-	-	ENSG00000063046		0.657	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4B	HGNC	protein_coding	OTTHUMT00000404852.2	-	0.00	87	0	C	NM_001417		53400186	+1	tier1	-	no_errors	ENST00000551527	ensembl	human	known	74_37	rna	30.43	16	7	SNP	0.966	T
ELL3	80237	genome.wustl.edu	37	15	44068113	44068113	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr15:44068113G>T	ENST00000319359.3	-	4	931	c.290C>A	c.(289-291)cCt>cAt	p.P97H	SERF2_ENST00000381359.1_5'Flank|RP11-296A16.1_ENST00000417761.2_3'UTR|ELL3_ENST00000497465.1_5'Flank	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	97					DNA-templated transcription, elongation (GO:0006354)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial to mesenchymal transition (GO:0010717)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	enhancer binding (GO:0035326)			cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		GAGGCTGTTAGGCCCAGACCT	0.532											OREG0023092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													39.0	41.0	40.0					15																	44068113		2198	4298	6496	SO:0001583	missense	0			AF276512	CCDS10102.1	15q15.1	2008-02-05			ENSG00000128886	ENSG00000128886			23113	protein-coding gene	gene with protein product		609885				10882741	Standard	NM_025165		Approved	FLJ22637	uc001zsw.1	Q9HB65	OTTHUMG00000059936	ENST00000319359.3:c.290C>A	15.37:g.44068113G>T	ENSP00000320346:p.Pro97His	921	B3KQ66|B3KX08|Q6I9Z7|Q9H634	Missense_Mutation	SNP	pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL	p.P97H	ENST00000319359.3	37	c.290	CCDS10102.1	15	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651494	0.47362	.	.	ENSG00000128886	ENST00000319359;ENST00000433927	T;T	0.30182	1.54;1.54	5.67	3.82	0.43975	.	0.335704	0.25916	N	0.027471	T	0.49813	0.1579	M	0.75447	2.3	0.23611	N	0.997294	D;D	0.76494	0.999;0.999	D;D	0.67382	0.951;0.951	T	0.38908	-0.9639	10	0.52906	T	0.07	-24.3217	8.691	0.34267	0.1736:0.0:0.8264:0.0	.	97;51	Q9HB65;B3KQ66	ELL3_HUMAN;.	H	97;127	ENSP00000320346:P97H;ENSP00000404209:P127H	ENSP00000320346:P97H	P	-	2	0	ELL3	41855405	0.433000	0.25562	0.991000	0.47740	0.285000	0.27093	1.668000	0.37481	0.771000	0.33359	0.655000	0.94253	CCT	ELL3	-	pfam_RNA_pol_II_elong_fac_ELL	ENSG00000128886		0.532	ELL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL3	HGNC	protein_coding	OTTHUMT00000133236.2	-	0.00	39	0	G	NM_025165		44068113	-1	tier1	-	no_errors	ENST00000319359	ensembl	human	known	74_37	missense	15.00	17	3	SNP	0.794	T
ELMO1	9844	genome.wustl.edu	37	7	36934485	36934485	+	Silent	SNP	C	C	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr7:36934485C>T	ENST00000310758.4	-	17	2222	c.1575G>A	c.(1573-1575)caG>caA	p.Q525Q	ELMO1_ENST00000448602.1_Silent_p.Q525Q|ELMO1_ENST00000396045.3_Silent_p.Q45Q|ELMO1_ENST00000341056.3_Silent_p.Q227Q|ELMO1_ENST00000442504.1_Silent_p.Q525Q|ELMO1_ENST00000396040.2_Silent_p.Q45Q	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	525					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GGAAATCTTCCTGGTTCATCC	0.473																																																	0													142.0	131.0	135.0					7																	36934485		2203	4300	6503	SO:0001819	synonymous_variant	0			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1575G>A	7.37:g.36934485C>T			A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Silent	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.Q525	ENST00000310758.4	37	c.1575	CCDS5449.1	7																																																																																			ELMO1	-	NULL	ENSG00000155849		0.473	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	HGNC	protein_coding	OTTHUMT00000219830.4	-	0.00	144	0	C	NM_130442		36934485	-1	tier1	-	no_errors	ENST00000310758	ensembl	human	known	74_37	silent	24.42	65	21	SNP	1.000	T
EMR1	2015	genome.wustl.edu	37	19	6913704	6913704	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:6913704C>A	ENST00000312053.4	+	11	1200	c.1163C>A	c.(1162-1164)tCc>tAc	p.S388Y	EMR1_ENST00000250572.8_Missense_Mutation_p.S388Y|EMR1_ENST00000381404.4_Missense_Mutation_p.S336Y|EMR1_ENST00000450315.3_Missense_Mutation_p.S211Y|EMR1_ENST00000381407.5_Missense_Mutation_p.S247Y	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	388	Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					AAACAAATATCCACGTGGACT	0.438																																																	0													93.0	88.0	90.0					19																	6913704		2203	4300	6503	SO:0001583	missense	0			X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1163C>A	19.37:g.6913704C>A	ENSP00000311545:p.Ser388Tyr		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like	p.S388Y	ENST00000312053.4	37	c.1163	CCDS12175.1	19	.	.	.	.	.	.	.	.	.	.	C	13.12	2.143632	0.37825	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.78924	-1.17;-1.2;-1.22;-0.01;0.3	4.98	0.193	0.15139	.	.	.	.	.	T	0.80025	0.4548	M	0.67953	2.075	0.09310	N	1	P;P;D;P;P	0.59767	0.9;0.766;0.986;0.766;0.766	P;B;P;B;B	0.57152	0.635;0.325;0.814;0.401;0.24	T	0.67768	-0.5585	9	0.72032	D	0.01	.	4.0985	0.10002	0.3234:0.4927:0.0:0.1839	.	211;247;388;336;388	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	Y	388;388;336;388;247;211	ENSP00000311545:S388Y;ENSP00000370811:S336Y;ENSP00000250572:S388Y;ENSP00000370814:S247Y;ENSP00000405974:S211Y	ENSP00000250572:S388Y	S	+	2	0	EMR1	6864704	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.629000	0.24538	-0.114000	0.11936	-0.145000	0.13849	TCC	EMR1	-	NULL	ENSG00000174837		0.438	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR1	HGNC	protein_coding	OTTHUMT00000458485.1	-	0.00	92	0	C			6913704	+1	tier1	-	no_errors	ENST00000312053	ensembl	human	known	74_37	missense	25.00	51	17	SNP	0.000	A
ENO1	2023	genome.wustl.edu	37	1	8921452	8921452	+	Silent	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:8921452G>T	ENST00000234590.4	-	12	1391	c.1272C>A	c.(1270-1272)gcC>gcA	p.A424A		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	424	Required for interaction with PLG. {ECO:0000250}.				carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AGTTCCTGCCGGCAAACTTAG	0.522																																					Esophageal Squamous(21;302 608 19946 22210 33560)												0													77.0	68.0	71.0					1																	8921452		2203	4300	6503	SO:0001819	synonymous_variant	0			BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.1272C>A	1.37:g.8921452G>T			B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Silent	SNP	pfam_Enolase_C,pfam_Enolase_N,pirsf_Enolase,prints_Enolase,tigrfam_Enolase	p.A424	ENST00000234590.4	37	c.1272	CCDS97.1	1																																																																																			ENO1	-	pfam_Enolase_C,pirsf_Enolase,tigrfam_Enolase	ENSG00000074800		0.522	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENO1	HGNC	protein_coding	OTTHUMT00000004945.1	-	0.00	92	0	G	NM_001428		8921452	-1	tier1	-	no_errors	ENST00000234590	ensembl	human	known	74_37	silent	5.56	68	4	SNP	0.924	T
AC007364.1	0	genome.wustl.edu	37	2	150714880	150714880	+	lincRNA	SNP	A	A	G			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:150714880A>G	ENST00000295052.3	-	0	386																											CTAGGGAATAACTGAGGAATG	0.413																																																	0																																												0																															2.37:g.150714880A>G				RNA	SNP	-	NULL	ENST00000295052.3	37	NULL		2																																																																																			AC007364.1	-	-	ENSG00000162947		0.413	AC007364.1-001	KNOWN	basic	lincRNA	ENSG00000162947	Clone_based_vega_gene	lincRNA	OTTHUMT00000332309.2	-	0.00	78	0	A			150714880	-1	tier1	-	no_errors	ENST00000295052	ensembl	human	known	74_37	rna	41.54	38	27	SNP	0.000	G
EXOC5	10640	genome.wustl.edu	37	14	57672583	57672583	+	3'UTR	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr14:57672583G>T	ENST00000413566.2	-	0	5230				AL391152.1_ENST00000391612.1_Missense_Mutation_p.A2S	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5						cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle docking (GO:0048278)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						TGCAACTATGGCAATCCTCAA	0.313																																																	0																																										SO:0001624	3_prime_UTR_variant	0			U85946	CCDS45111.1	14q22.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000070367	ENSG00000070367			10696	protein-coding gene	gene with protein product		604469	"""SEC10 (S. cerevisiae)-like 1"", ""SEC10-like 1 (S. cerevisiae)"""	SEC10L1		9119050	Standard	XM_005267272		Approved	SEC10, SEC10P	uc001xct.3	O00471	OTTHUMG00000171309	ENST00000413566.2:c.*2744C>A	14.37:g.57672583G>T			B2R6C5	Missense_Mutation	SNP	NULL	p.A2S	ENST00000413566.2	37	c.4	CCDS45111.1	14	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413910	0.25465	.	.	ENSG00000212928	ENST00000391612	.	.	.	3.55	0.739	0.18324	.	.	.	.	.	T	0.39226	0.1070	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37361	-0.9709	5	0.87932	D	0	.	5.6702	0.17717	0.3503:0.0:0.6497:0.0	.	.	.	.	S	2	.	ENSP00000375470:A2S	A	+	1	0	AL391152.1	56742336	0.001000	0.12720	0.000000	0.03702	0.011000	0.07611	0.116000	0.15561	0.153000	0.19213	0.655000	0.94253	GCA	AL391152.1	-	NULL	ENSG00000212928		0.313	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ENSG00000212928	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000412905.1	-	0.00	57	0	G	NM_006544		57672583	+1	tier1	-	no_errors	ENST00000391612	ensembl	human	novel	74_37	missense	5.00	76	4	SNP	0.000	T
RP1-29C18.10	0	genome.wustl.edu	37	22	49947569	49947569	+	RNA	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr22:49947569G>A	ENST00000391625.2	+	0	1342																											TGTCCGGAGAGAGGGCCAGCA	0.622																																																	0																																												0																															22.37:g.49947569G>A				RNA	SNP	-	NULL	ENST00000391625.2	37	NULL		22																																																																																			RP1-29C18.10	-	-	ENSG00000212939		0.622	RP1-29C18.10-001	KNOWN	basic	antisense	ENSG00000212939	Clone_based_vega_gene	antisense	OTTHUMT00000317431.1	-	0.00	97	0	G			49947569	+1	tier1	-	no_errors	ENST00000391625	ensembl	human	known	74_37	rna	24.07	41	13	SNP	0.014	A
CASR	846	genome.wustl.edu	37	3	122000728	122000729	+	Intron	DEL	TG	TG	-	rs200602784|rs10533065	byFrequency	TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr3:122000728_122000729delTG	ENST00000490131.1	+	6	1980				CASR_ENST00000498619.1_Intron|CASR_ENST00000296154.5_Intron|AC068754.1_ENST00000408547.1_RNA	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor						anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	tgcatgcacatgtgtgtgtgtg	0.446																																																	0																																										SO:0001627	intron_variant	0			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.1609-231TG>-	3.37:g.122000738_122000739delTG			Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	RNA	DEL	-	NULL	ENST00000490131.1	37	NULL	CCDS3010.1	3																																																																																			AC068754.1	-	-	ENSG00000221474		0.446	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000221474	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000355761.1		0.00	45	0	TG	NM_000388		122000729	+1	tier1		no_errors	ENST00000408547	ensembl	human	novel	74_37	rna	12.00	22	3	DEL	0.000:0.001	-
Unknown	0	genome.wustl.edu	37	1	144615258	144615258	+	IGR	SNP	C	C	G			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:144615258C>G								RP11-640M9.2 (9367 upstream) : NBPF9 (196485 downstream)																							GAGATGTTTTCTAACTCAACT	0.453																																																	0																																										SO:0001628	intergenic_variant	0																															1.37:g.144615258C>G				RNA	SNP	-	NULL		37	NULL		1																																																																																			RP11-640M9.2	-	-	ENSG00000225241	0	0.453					ENSG00000225241	Clone_based_vega_gene			-	0.00	206	0	C			144615258	+1	tier1	-	no_errors	ENST00000421407	ensembl	human	known	74_37	rna	37.30	79	47	SNP	0.001	G
Unknown	0	genome.wustl.edu	37	1	144615289	144615290	+	IGR	DNP	GA	GA	AG			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:144615289_144615290GA>AG								RP11-640M9.2 (9398 upstream) : NBPF9 (196453 downstream)																							CTGGCCAACCGACAGAAGAAAT	0.446																																																	0																																										SO:0001628	intergenic_variant	0																															1.37:g.144615289_144615290delinsAG				RNA	SNP	-	NULL		37	NULL		1																																																																																			RP11-640M9.2	-	-	ENSG00000225241	0	0.446					ENSG00000225241	Clone_based_vega_gene			-	0.00	162|161	0	G|A			144615289|144615290	+1	tier1	rs9441106|rs9441135	no_errors	ENST00000421407	ensembl	human	known	74_37	rna	29.07|28.74	61|62	25	SNP	0.038|0.016	A|G
XXbac-BPG154L12.4	0	genome.wustl.edu	37	6	32231727	32231727	+	RNA	DEL	T	T	-			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr6:32231727delT	ENST00000425033.1	+	0	1570																											tctttctttCTtttttttttt	0.308																																																	0										47,334,150,13,1154		6,3,11,0,21,50,38,0,193,3,0,95,4,5,420	92.0	74.0	79.0				0.4	6	dbSNP_134	83	19,831,21,39,2792		3,1,1,0,11,119,3,2,587,0,0,17,7,23,1077	no	intergenic				9,4,12,0,32,169,41,2,780,3,0,112,11,28,1497	A1A1,A1A2,A1A3,A1A4,A1R,A2A2,A2A3,A2A4,A2R,A3A3,A3A4,A3R,A4A4,A4R,RR		24.5813,32.0377,26.9259			32231727	66,1165,171,52,3946	692	1585	2277			0																															6.37:g.32231727delT				RNA	DEL	-	NULL	ENST00000425033.1	37	NULL		6																																																																																			XXbac-BPG154L12.4	-	-	ENSG00000225914		0.308	XXbac-BPG154L12.4-001	KNOWN	basic|exp_conf	antisense	ENSG00000225914	Clone_based_vega_gene	antisense	OTTHUMT00000316882.1		0.00	14	0	T			32231727	+1	tier1		no_errors	ENST00000425033	ensembl	human	known	74_37	rna	17.86	23	5	DEL	0.374	-
MYLIP	29116	genome.wustl.edu	37	6	16148585	16148586	+	IGR	INS	-	-	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr6:16148585_16148586insT	ENST00000356840.3	+	0	1666				U3_ENST00000515984.1_RNA	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein						cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			CGGGaatttaattttttttttt	0.287																																																	0																																										SO:0001628	intergenic_variant	0			AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"""	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405		6.37:g.16148596_16148596dupT			Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	RNA	INS	-	NULL	ENST00000356840.3	37	NULL	CCDS4536.1	6																																																																																			U3	-	-	ENSG00000251793		0.287	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000251793	RFAM	protein_coding	OTTHUMT00000043864.1		0.00	9	0	-	NM_013262		16148586	-1	tier1		no_errors	ENST00000515984	ensembl	human	novel	74_37	rna	15.79	16	3	INS	0.008:0.031	T
CTD-2311B13.7	0	genome.wustl.edu	37	14	19969548	19969548	+	lincRNA	SNP	G	G	T	rs200969376		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr14:19969548G>T	ENST00000547399.1	-	0	2744																											GAGAATAATCGCATACAAAAC	0.274																																																	0																																												0																															14.37:g.19969548G>T				RNA	SNP	-	NULL	ENST00000547399.1	37	NULL		14																																																																																			CTD-2311B13.7	-	-	ENSG00000257931		0.274	CTD-2311B13.7-001	KNOWN	basic	lincRNA	ENSG00000257931	Clone_based_vega_gene	lincRNA	OTTHUMT00000409457.1		0.00	23	0	G			19969548	-1			no_errors	ENST00000547399	ensembl	human	known	74_37	rna	13.79	25	4	SNP	0.002	T
RP11-652G5.1	0	genome.wustl.edu	37	16	32621269	32621269	+	RNA	SNP	T	T	G			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr16:32621269T>G	ENST00000562976.1	+	0	573																											GATGTGAAGGTCAGGCCACCT	0.413																																																	0																																												0																															16.37:g.32621269T>G				Splice_Site	SNP	-	NULL	ENST00000562976.1	37	c.NULL		16																																																																																			RP11-652G5.1	-	-	ENSG00000259966		0.413	RP11-652G5.1-002	KNOWN	basic	processed_transcript	ENSG00000259966	Clone_based_vega_gene	pseudogene	OTTHUMT00000432347.1	-	0.00	404	0	T			32621269	+1	tier1	-	no_errors	ENST00000566952	ensembl	human	known	74_37	splice_site	43.82	100	78	SNP	0.001	G
RP11-141J13.5	0	genome.wustl.edu	37	17	4520362	4520362	+	lincRNA	DEL	A	A	-			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr17:4520362delA	ENST00000573270.1	+	0	690				RNU6-955P_ENST00000410497.1_RNA																							CACGAGACTGAAAAAAAAAAA	0.473																																																	0																																												0																															17.37:g.4520362delA				RNA	DEL	-	NULL	ENST00000573270.1	37	NULL		17																																																																																			RP11-141J13.5	-	-	ENSG00000261863		0.473	RP11-141J13.5-001	KNOWN	basic	lincRNA	ENSG00000261863	Clone_based_vega_gene	lincRNA	OTTHUMT00000439132.1		0.00	26	0	A			4520362	+1	tier1		no_errors	ENST00000573270	ensembl	human	known	74_37	rna	18.75	13	3	DEL	0.007	-
ENTHD1	150350	genome.wustl.edu	37	22	40140082	40140082	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr22:40140082C>A	ENST00000325157.6	-	7	1676	c.1426G>T	c.(1426-1428)Ggc>Tgc	p.G476C		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	476										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GACACTGGGCCCCTAGAAGCA	0.423																																																	0													71.0	73.0	73.0					22																	40140082		2203	4300	6503	SO:0001583	missense	0			AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.1426G>T	22.37:g.40140082C>A	ENSP00000317431:p.Gly476Cys		B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.G476C	ENST00000325157.6	37	c.1426	CCDS13998.1	22	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454934	0.26161	.	.	ENSG00000176177	ENST00000325157	T	0.51817	0.69	5.56	-2.63	0.06133	.	1.210600	0.05897	N	0.629275	T	0.37919	0.1021	L	0.50333	1.59	0.09310	N	1	B	0.24258	0.1	B	0.20384	0.029	T	0.35699	-0.9778	10	0.41790	T	0.15	-1.4183	5.6864	0.17805	0.1344:0.4623:0.0:0.4034	.	476	Q8IYW4	ENTD1_HUMAN	C	476	ENSP00000317431:G476C	ENSP00000317431:G476C	G	-	1	0	ENTHD1	38470028	0.000000	0.05858	0.000000	0.03702	0.880000	0.50808	-1.698000	0.01908	-0.167000	0.10871	0.650000	0.86243	GGC	ENTHD1	-	NULL	ENSG00000176177		0.423	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTHD1	HGNC	protein_coding	OTTHUMT00000321302.1	-	0.00	48	0	C	NM_152512		40140082	-1	tier1	-	no_errors	ENST00000325157	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.000	A
ERAL1	26284	genome.wustl.edu	37	17	27184985	27184985	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr17:27184985G>T	ENST00000254928.5	+	4	615	c.518G>T	c.(517-519)aGt>aTt	p.S173I	ERAL1_ENST00000578001.1_Intron|FAM222B_ENST00000583953.1_5'Flank	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	173	Era-type G.				ribosomal small subunit assembly (GO:0000028)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			GGCATTATCAGTCCTGGTAAA	0.483																																																	0													122.0	120.0	121.0					17																	27184985		2203	4300	6503	SO:0001583	missense	0			AF082657	CCDS11244.1	17q11.2	2013-05-22	2013-05-22		ENSG00000132591	ENSG00000132591			3424	protein-coding gene	gene with protein product		607435	"""Era (E. coli G-protein homolog)-like 1"", ""Era G-protein-like 1 (E. coli)"""			10945472, 20604745	Standard	NM_005702		Approved	HERA-B	uc002hcy.1	O75616	OTTHUMG00000132675	ENST00000254928.5:c.518G>T	17.37:g.27184985G>T	ENSP00000254928:p.Ser173Ile		B3KN21|C9JEC6|O75617|Q8WUY4|Q96LE2|Q96TC0	Missense_Mutation	SNP	pfam_GTP_binding_domain,pfam_MIRO-like,pfam_Dynamin_GTPase,pfam_AIG1,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,superfamily_KH_prok-type,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom	p.S173I	ENST00000254928.5	37	c.518	CCDS11244.1	17	.	.	.	.	.	.	.	.	.	.	G	12.04	1.817691	0.32145	.	.	ENSG00000132591	ENST00000254928;ENST00000412138	T	0.18960	2.18	5.97	3.97	0.46021	Small GTP-binding protein domain (1);GTP1/OBG (1);GTP-binding domain, HSR1-related (1);	0.250233	0.52532	D	0.000078	T	0.29652	0.0740	L	0.55834	1.745	0.49483	D	0.999796	P	0.52316	0.952	P	0.53689	0.732	T	0.01935	-1.1244	10	0.40728	T	0.16	-7.0572	9.5167	0.39109	0.166:0.0:0.834:0.0	.	173	O75616	ERAL1_HUMAN	I	173;113	ENSP00000254928:S173I	ENSP00000254928:S173I	S	+	2	0	ERAL1	24209111	0.999000	0.42202	1.000000	0.80357	0.989000	0.77384	1.705000	0.37867	1.536000	0.49237	-0.140000	0.14226	AGT	ERAL1	-	pfam_GTP_binding_domain,pfam_MIRO-like,pfam_AIG1,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom	ENSG00000132591		0.483	ERAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAL1	HGNC	protein_coding	OTTHUMT00000255937.2		0.00	99	0	G			27184985	+1			no_errors	ENST00000254928	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T
FAM189B	10712	genome.wustl.edu	37	1	155220921	155220921	+	Missense_Mutation	SNP	G	G	C			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:155220921G>C	ENST00000361361.2	-	8	1438	c.929C>G	c.(928-930)tCg>tGg	p.S310W	FAM189B_ENST00000472550.1_5'UTR|FAM189B_ENST00000368368.3_Missense_Mutation_p.S292W|FAM189B_ENST00000350210.2_Missense_Mutation_p.S214W	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	310						integral component of membrane (GO:0016021)	WW domain binding (GO:0050699)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACAGATGCACGAGCCATCGTG	0.592											OREG0013858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													47.0	44.0	45.0					1																	155220921		2203	4300	6503	SO:0001583	missense	0			AF070550	CCDS1103.1, CCDS1104.1, CCDS58035.1	1q21	2009-07-09	2009-07-09	2009-07-09	ENSG00000160767	ENSG00000160767			1233	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 2"""	C1orf2		9331372	Standard	NM_006589		Approved	cote1	uc001fjm.3	P81408	OTTHUMG00000035844	ENST00000361361.2:c.929C>G	1.37:g.155220921G>C	ENSP00000354958:p.Ser310Trp	1769	B1AVS5|Q8IXL3|Q9BR66	Missense_Mutation	SNP	pfam_CD20-like	p.S310W	ENST00000361361.2	37	c.929	CCDS1103.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113850	0.77210	.	.	ENSG00000160767	ENST00000350210;ENST00000368368;ENST00000361361;ENST00000323361;ENST00000491082	T;T;T;T	0.35236	1.64;2.01;2.01;1.32	4.58	4.58	0.56647	.	0.158541	0.42172	D	0.000746	T	0.37433	0.1003	L	0.42245	1.32	0.49051	D	0.999746	D;D;D;P	0.67145	0.996;0.979;0.984;0.947	P;P;P;P	0.59825	0.864;0.563;0.685;0.466	T	0.22243	-1.0222	10	0.87932	D	0	.	13.0645	0.59025	0.0:0.0:1.0:0.0	.	39;292;214;310	B1AVS2;B1AVS5;P81408-2;P81408	.;.;.;F189B_HUMAN	W	214;292;310;20;214	ENSP00000307128:S214W;ENSP00000357352:S292W;ENSP00000354958:S310W;ENSP00000427011:S214W	ENSP00000323164:S20W	S	-	2	0	FAM189B	153487545	0.995000	0.38212	1.000000	0.80357	0.966000	0.64601	4.863000	0.62983	2.537000	0.85549	0.655000	0.94253	TCG	FAM189B	-	NULL	ENSG00000160767		0.592	FAM189B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM189B	HGNC	protein_coding	OTTHUMT00000087224.1	-	0.00	32	0	G	NM_006589		155220921	-1	tier1	-	no_errors	ENST00000361361	ensembl	human	known	74_37	missense	43.48	13	10	SNP	1.000	C
FCHO1	23149	genome.wustl.edu	37	19	17883316	17883316	+	Silent	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:17883316G>T	ENST00000596536.1	+	10	928	c.645G>T	c.(643-645)ctG>ctT	p.L215L	FCHO1_ENST00000252771.7_Silent_p.L215L|FCHO1_ENST00000389133.4_Silent_p.L215L|FCHO1_ENST00000597512.1_Silent_p.L222L|FCHO1_ENST00000594202.1_Silent_p.L215L|FCHO1_ENST00000595033.1_Silent_p.L165L|FCHO1_ENST00000600676.1_Silent_p.L215L|FCHO1_ENST00000596951.1_Silent_p.L215L|FCHO1_ENST00000539407.1_Silent_p.L215L	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	215	Mediates membrane-binding.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						AGGCACTGCTGGGCTCATATG	0.602																																																	0													139.0	110.0	120.0					19																	17883316		2203	4300	6503	SO:0001819	synonymous_variant	0			AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.645G>T	19.37:g.17883316G>T			A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Silent	SNP	pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,superfamily_Clathrin_mu_C,smart_FCH_dom,pfscan_FCH_dom	p.L215	ENST00000596536.1	37	c.645	CCDS32955.1	19																																																																																			FCHO1	-	NULL	ENSG00000130475		0.602	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FCHO1	HGNC	protein_coding	OTTHUMT00000466946.2	-	0.00	97	0	G	NM_015122		17883316	+1	tier1	-	no_errors	ENST00000252771	ensembl	human	known	74_37	silent	6.15	61	4	SNP	0.997	T
FLG	2312	genome.wustl.edu	37	1	152276780	152276780	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:152276780C>T	ENST00000368799.1	-	3	10617	c.10582G>A	c.(10582-10584)Ggg>Agg	p.G3528R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3528	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCTGGGCCCCGCTGATTGT	0.582									Ichthyosis																																								0													198.0	203.0	202.0					1																	152276780		2203	4297	6500	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10582G>A	1.37:g.152276780C>T	ENSP00000357789:p.Gly3528Arg		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.G3528R	ENST00000368799.1	37	c.10582	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410611	0.25465	.	.	ENSG00000143631	ENST00000368799	T	0.01705	4.68	3.46	-2.37	0.06643	.	.	.	.	.	T	0.02230	0.0069	M	0.78916	2.43	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.28170	-1.0052	9	0.32370	T	0.25	.	2.7891	0.05383	0.2795:0.3676:0.0:0.353	.	3528	P20930	FILA_HUMAN	R	3528	ENSP00000357789:G3528R	ENSP00000357789:G3528R	G	-	1	0	FLG	150543404	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	-0.031000	0.12287	-0.902000	0.03886	-0.507000	0.04495	GGG	FLG	-	pfam_Filaggrin	ENSG00000143631		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0.00	196	0	C	NM_002016		152276780	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	15.79	112	21	SNP	0.000	T
FCRL5	83416	genome.wustl.edu	37	1	157504488	157504488	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:157504488C>T	ENST00000361835.3	-	8	1754	c.1597G>A	c.(1597-1599)Gaa>Aaa	p.E533K	FCRL5_ENST00000368190.3_Missense_Mutation_p.E533K|FCRL5_ENST00000368189.3_Missense_Mutation_p.E533K|FCRL5_ENST00000356953.4_Missense_Mutation_p.E533K|FCRL5_ENST00000368191.3_Missense_Mutation_p.E448K	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	533	Ig-like C2-type 5.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GAATGTCCTTCAGTCAGAGAG	0.502																																																	0													56.0	56.0	56.0					1																	157504488		2203	4300	6503	SO:0001583	missense	0			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1597G>A	1.37:g.157504488C>T	ENSP00000354691:p.Glu533Lys		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.E533K	ENST00000361835.3	37	c.1597	CCDS1165.1	1	.	.	.	.	.	.	.	.	.	.	C	2.382	-0.341820	0.05243	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63	3.39	-5.11	0.02901	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.048620	0.07614	N	0.925857	T	0.03178	0.0093	L	0.38175	1.15	0.09310	N	1	B;B;P;P;P;P	0.44521	0.151;0.233;0.486;0.784;0.837;0.763	B;B;B;P;B;B	0.45310	0.184;0.176;0.098;0.476;0.281;0.358	T	0.18524	-1.0334	10	0.38643	T	0.18	.	0.2426	0.00194	0.2966:0.1936:0.1473:0.3625	.	564;448;533;533;533;533	B4DW39;F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;.;FCRL5_HUMAN	K	533;533;533;448;533	ENSP00000354691:E533K;ENSP00000349434:E533K;ENSP00000357173:E533K;ENSP00000357174:E448K;ENSP00000357172:E533K	ENSP00000349434:E533K	E	-	1	0	FCRL5	155771112	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-3.739000	0.00379	-0.863000	0.04084	-0.823000	0.03104	GAA	FCRL5	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000143297		0.502	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL5	HGNC	protein_coding	OTTHUMT00000046263.1	-	0.00	78	0	C	NM_031281		157504488	-1	tier1	-	no_errors	ENST00000356953	ensembl	human	known	74_37	missense	57.14	24	32	SNP	0.000	T
FLJ35934	400579	genome.wustl.edu	37	17	18315401	18315401	+	lincRNA	SNP	T	T	G	rs2297501		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr17:18315401T>G	ENST00000577684.1	+	0	929																											CCCGATCGTCTTCTTGCCCAC	0.657																																																	0																																												0																															17.37:g.18315401T>G				RNA	SNP	-	NULL	ENST00000577684.1	37	NULL		17	.	.	.	.	.	.	.	.	.	.	.	8.631	0.893720	0.17613	.	.	ENSG00000220161	ENST00000407600	.	.	.	.	.	.	.	.	.	.	.	T	0.36496	0.0969	.	.	.	.	.	.	.	.	.	.	.	.	T	0.46331	-0.9199	3	0.87932	D	0	.	2.2022	0.03926	0.4898:1.0E-4:1.0E-4:0.51	.	.	.	.	R	184	.	ENSP00000385341:L184R	L	+	2	0	AL353997.1	18256126	0.017000	0.18338	0.189000	0.23252	0.192000	0.23643	0.195000	0.17155	0.149000	0.19098	0.147000	0.16070	CTT	RP1-37N7.3	-	-	ENSG00000220161		0.657	RP1-37N7.3-001	KNOWN	basic	lincRNA	FLJ35934	Clone_based_vega_gene	lincRNA	OTTHUMT00000447480.1	-	0.00	15	0	T			18315401	+1	tier1	-	no_errors	ENST00000577684	ensembl	human	known	74_37	rna	50.00	2	2	SNP	0.990	G
FOXD4L3	286380	genome.wustl.edu	37	9	70917939	70917939	+	Silent	SNP	C	C	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:70917939C>T	ENST00000342833.2	+	1	664	c.72C>T	c.(70-72)gaC>gaT	p.D24D		NM_199135.4	NP_954586.4	Q6VB84	FX4L3_HUMAN	forkhead box D4-like 3	24						nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			ovary(1)	1				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		ATGGGGAAGACGGTAAAATCG	0.627																																																	0													1.0	1.0	1.0					9																	70917939		102	248	350	SO:0001819	synonymous_variant	0			AY344642	CCDS43833.1	9q13	2008-05-13				ENSG00000187559			18523	protein-coding gene	gene with protein product		611086				12421752	Standard	NM_199135		Approved	OTTHUMG00000019959, FOXD6	uc004agm.1	Q6VB84	OTTHUMG00000019959	ENST00000342833.2:c.72C>T	9.37:g.70917939C>T			Q5JTX9	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.D24	ENST00000342833.2	37	c.72	CCDS43833.1	9																																																																																			FOXD4L3	-	NULL	ENSG00000187559		0.627	FOXD4L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4L3	HGNC	protein_coding	OTTHUMT00000052539.2	-	0.00	55	0	C	NM_199358		70917939	+1	tier1	-	no_errors	ENST00000342833	ensembl	human	known	74_37	silent	22.22	14	4	SNP	0.164	T
FRMD8	83786	genome.wustl.edu	37	11	65172424	65172424	+	Silent	SNP	G	G	A	rs149330420		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr11:65172424G>A	ENST00000317568.5	+	10	1324	c.1161G>A	c.(1159-1161)tcG>tcA	p.S387S	FRMD8_ENST00000355991.5_Silent_p.S331S|FRMD8_ENST00000416776.2_Silent_p.S353S	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	387						cytoskeleton (GO:0005856)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						CGACTGGCTCGCCCTCGGACC	0.662																																																	0								G		1,4401	2.1+/-5.4	0,1,2200	35.0	36.0	35.0		1161	0.6	0.0	11	dbSNP_134	35	0,8586		0,0,4293	no	coding-synonymous	FRMD8	NM_031904.3		0,1,6493	AA,AG,GG		0.0,0.0227,0.0077		387/465	65172424	1,12987	2201	4293	6494	SO:0001819	synonymous_variant	0			AK074850	CCDS8102.1, CCDS73320.1	11q13.1	2007-08-14			ENSG00000126391	ENSG00000126391			25462	protein-coding gene	gene with protein product						12477932	Standard	NM_031904		Approved	FLJ90369, FKSG44	uc001odu.4	Q9BZ67	OTTHUMG00000166275	ENST00000317568.5:c.1161G>A	11.37:g.65172424G>A			B4E2P1|Q86V56|Q8NCB5	Silent	SNP	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	p.S387	ENST00000317568.5	37	c.1161	CCDS8102.1	11																																																																																			FRMD8	-	NULL	ENSG00000126391		0.662	FRMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD8	HGNC	protein_coding	OTTHUMT00000388833.1	-	0.00	82	0	G	NM_031904		65172424	+1	tier1	rs149330420	no_errors	ENST00000317568	ensembl	human	known	74_37	silent	62.50	6	10	SNP	0.014	A
FTMT	94033	genome.wustl.edu	37	5	121188036	121188036	+	Silent	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:121188036G>A	ENST00000321339.1	+	1	387	c.378G>A	c.(376-378)gcG>gcA	p.A126A		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	126	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CCGAGCACGCGGAGAAGCTGA	0.587																																																	0													57.0	59.0	58.0					5																	121188036		2203	4300	6503	SO:0001819	synonymous_variant	0			BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.378G>A	5.37:g.121188036G>A				Silent	SNP	pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron	p.A126	ENST00000321339.1	37	c.378	CCDS4128.1	5																																																																																			FTMT	-	pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron	ENSG00000181867		0.587	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTMT	HGNC	protein_coding	OTTHUMT00000250884.1	-	0.00	65	0	G	NM_177478		121188036	+1	tier1	-	no_errors	ENST00000321339	ensembl	human	known	74_37	silent	37.93	18	11	SNP	0.001	A
FXYD3	5349	genome.wustl.edu	37	19	35612193	35612193	+	Intron	SNP	C	C	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:35612193C>T	ENST00000344013.6	+	5	293				FXYD3_ENST00000603524.1_Intron|FXYD3_ENST00000603181.1_Intron|FXYD3_ENST00000603449.1_Silent_p.Y47Y|FXYD3_ENST00000605677.1_Intron|FXYD3_ENST00000604255.1_Intron|FXYD3_ENST00000406242.3_Intron|FXYD3_ENST00000605552.1_Silent_p.Y47Y|FXYD3_ENST00000604804.1_Intron|FXYD3_ENST00000435734.2_Intron|FXYD3_ENST00000454903.2_Silent_p.Y47Y|FXYD3_ENST00000604621.1_Intron|FXYD3_ENST00000346446.5_Intron|FXYD3_ENST00000604404.1_Intron|FXYD3_ENST00000406988.1_Intron|FXYD3_ENST00000605550.1_Intron|FXYD3_ENST00000535103.1_Intron			Q14802	FXYD3_HUMAN	FXYD domain containing ion transport regulator 3						chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of catalytic activity (GO:0050790)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			endometrium(1)|lung(2)|prostate(1)	4	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			ACCCCACATACTGCTTGGTGC	0.507																																																	0													46.0	50.0	49.0					19																	35612193		2202	4298	6500	SO:0001627	intron_variant	0			X93036	CCDS12442.1, CCDS12443.1, CCDS46048.1, CCDS46049.1, CCDS46050.1	19q13.11-q13.12	2008-05-14	2002-01-14			ENSG00000089356			4027	protein-coding gene	gene with protein product		604996	"""FXYD domain-containing ion transport regulator 3"""	PLML		7836447, 10950925	Standard	NM_005971		Approved	MAT-8	uc010xsm.2	Q14802		ENST00000344013.6:c.97+44C>T	19.37:g.35612193C>T			A6NDE0|C9JDU2|F5H174|F8WB34|Q13211|Q6IB59	Silent	SNP	NULL	p.Y47	ENST00000344013.6	37	c.141	CCDS12442.1	19																																																																																			FXYD3	-	NULL	ENSG00000089356		0.507	FXYD3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FXYD3	HGNC	protein_coding	OTTHUMT00000468985.1	-	0.00	179	0	C	NM_021910		35612193	+1	tier1	-	no_errors	ENST00000454903	ensembl	human	known	74_37	silent	40.91	65	45	SNP	0.000	T
GAB4	128954	genome.wustl.edu	37	22	17450854	17450854	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr22:17450854C>T	ENST00000400588.1	-	4	1023	c.916G>A	c.(916-918)Ggc>Agc	p.G306S	GAB4_ENST00000523144.1_Intron	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	306										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GCCTCAGAGCCTGTGAGGCTG	0.592																																																	0													78.0	86.0	83.0					22																	17450854		2174	4290	6464	SO:0001583	missense	0			AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.916G>A	22.37:g.17450854C>T	ENSP00000383431:p.Gly306Ser			Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.G306S	ENST00000400588.1	37	c.916	CCDS42976.1	22	.	.	.	.	.	.	.	.	.	.	C	10.13	1.266632	0.23136	.	.	ENSG00000215568	ENST00000400588	T	0.41400	1.0	1.97	1.97	0.26223	.	0.178022	0.48767	N	0.000180	T	0.28928	0.0718	N	0.20685	0.6	0.39565	D	0.969194	D	0.55172	0.97	P	0.48704	0.587	T	0.04767	-1.0928	10	0.11485	T	0.65	.	9.9586	0.41682	0.0:1.0:0.0:0.0	.	306	Q2WGN9	GAB4_HUMAN	S	306	ENSP00000383431:G306S	ENSP00000383431:G306S	G	-	1	0	GAB4	15830854	1.000000	0.71417	0.997000	0.53966	0.090000	0.18270	4.834000	0.62774	1.398000	0.46701	0.411000	0.27672	GGC	GAB4	-	NULL	ENSG00000215568		0.592	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAB4	HGNC	protein_coding	OTTHUMT00000315426.1	-	0.00	113	0	C	XM_372882		17450854	-1	tier1	-	no_errors	ENST00000400588	ensembl	human	known	74_37	missense	7.58	61	5	SNP	1.000	T
GABRB3	2562	genome.wustl.edu	37	15	26792964	26792964	+	Silent	SNP	A	A	C			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr15:26792964A>C	ENST00000311550.5	-	9	1509	c.1398T>G	c.(1396-1398)gtT>gtG	p.V466V	GABRB3_ENST00000545868.1_Silent_p.V381V|GABRB3_ENST00000400188.3_Silent_p.V395V|GABRB3_ENST00000299267.4_Silent_p.V466V|GABRB3_ENST00000541819.2_Silent_p.V522V	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	466					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACAGCCAGTAAACTAAGTTGA	0.358																																																	0													94.0	79.0	84.0					15																	26792964		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.1398T>G	15.37:g.26792964A>C			B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.V466	ENST00000311550.5	37	c.1398	CCDS10019.1	15																																																																																			GABRB3	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel	ENSG00000166206		0.358	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB3	HGNC	protein_coding	OTTHUMT00000251352.2	-	0.00	23	0	A			26792964	-1	tier1	-	no_errors	ENST00000299267	ensembl	human	known	74_37	silent	37.50	5	3	SNP	1.000	C
GALNT2	2590	genome.wustl.edu	37	1	230415060	230415060	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:230415060G>T	ENST00000366672.4	+	16	1644	c.1572G>T	c.(1570-1572)caG>caT	p.Q524H	GALNT2_ENST00000543760.1_Missense_Mutation_p.Q486H|GALNT2_ENST00000485438.1_3'UTR|RP5-956O18.3_ENST00000414640.1_RNA	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	524	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				AATGGGAACAGATCGAGGGCA	0.577																																																	0													62.0	57.0	59.0					1																	230415060		2203	4300	6503	SO:0001583	missense	0			BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.1572G>T	1.37:g.230415060G>T	ENSP00000355632:p.Gln524His		A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.Q524H	ENST00000366672.4	37	c.1572	CCDS1582.1	1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.434818	0.25813	.	.	ENSG00000143641	ENST00000543760;ENST00000366672	T;T	0.26518	1.73;1.73	5.45	4.34	0.51931	Ricin B-related lectin (1);Ricin B lectin (3);	0.117295	0.64402	D	0.000009	T	0.10594	0.0259	N	0.04880	-0.145	0.80722	D	1	B;B	0.19331	0.035;0.01	B;B	0.12837	0.008;0.005	T	0.17107	-1.0380	10	0.25106	T	0.35	.	6.3078	0.21149	0.2684:0.0:0.7316:0.0	.	524;486	Q10471;G3V1S6	GALT2_HUMAN;.	H	486;524	ENSP00000445017:Q486H;ENSP00000355632:Q524H	ENSP00000355632:Q524H	Q	+	3	2	GALNT2	228481683	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.208000	0.58486	2.576000	0.86940	0.491000	0.48974	CAG	GALNT2	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000143641		0.577	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT2	HGNC	protein_coding	OTTHUMT00000092158.1	-	0.00	53	0	G	NM_004481		230415060	+1	tier1	-	no_errors	ENST00000366672	ensembl	human	known	74_37	missense	15.38	22	4	SNP	1.000	T
GDAP1	54332	genome.wustl.edu	37	8	75263518	75263518	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr8:75263518G>T	ENST00000220822.7	+	2	207	c.127G>T	c.(127-129)Gta>Tta	p.V43L	CTD-2320G14.2_ENST00000521872.1_RNA|GDAP1_ENST00000434412.2_Intron|GDAP1_ENST00000521096.1_Intron	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	43	GST N-terminal.				cell death (GO:0008219)|mitochondrial fission (GO:0000266)|protein targeting to mitochondrion (GO:0006626)|response to retinoic acid (GO:0032526)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			GGTGCGCTTGGTAATTGCTGA	0.463																																																	0													255.0	215.0	228.0					8																	75263518		2203	4300	6503	SO:0001583	missense	0				CCDS34911.1, CCDS47877.1	8q13.3	2014-09-17	2012-02-09						15968	protein-coding gene	gene with protein product		606598	"""Charcot-Marie-Tooth neuropathy 4A"""	CMT4A		8268915, 11743579	Standard	NM_018972		Approved	CMT4	uc003yah.3	Q8TB36		ENST00000220822.7:c.127G>T	8.37:g.75263518G>T	ENSP00000220822:p.Val43Leu		A8K957|E7FJF3|E7FJF4	Missense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like	p.V43L	ENST00000220822.7	37	c.127	CCDS34911.1	8	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903585	0.92035	.	.	ENSG00000104381	ENST00000220822	T	0.24723	1.84	4.93	4.93	0.64822	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.135640	0.49916	D	0.000138	T	0.34395	0.0896	L	0.41632	1.29	0.80722	D	1	B	0.30361	0.277	B	0.43194	0.411	T	0.20140	-1.0284	10	0.54805	T	0.06	-20.1698	18.3263	0.90255	0.0:0.0:1.0:0.0	.	43	Q8TB36	GDAP1_HUMAN	L	43	ENSP00000220822:V43L	ENSP00000220822:V43L	V	+	1	0	GDAP1	75426073	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.191000	0.94940	2.562000	0.86427	0.655000	0.94253	GTA	GDAP1	-	pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold	ENSG00000104381		0.463	GDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDAP1	HGNC	protein_coding	OTTHUMT00000379061.1	-	0.00	111	0	G	NM_018972		75263518	+1	tier1	-	no_errors	ENST00000220822	ensembl	human	known	74_37	missense	7.14	65	5	SNP	1.000	T
GHRL	51738	genome.wustl.edu	37	3	10334448	10334449	+	Intron	INS	-	-	A	rs574917279|rs367917269	byFrequency	TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr3:10334448_10334449insA	ENST00000335542.8	-	1	106				GHRL_ENST00000450603.1_5'Flank|GHRL_ENST00000439975.2_Intron|GHRL_ENST00000437422.2_Intron|GHRL_ENST00000457360.1_Intron|GHRL_ENST00000429122.1_Intron|GHRL_ENST00000446937.2_Intron|GHRL_ENST00000476283.1_5'Flank|GHRL_ENST00000449554.2_5'Flank|SEC13_ENST00000492602.1_5'Flank|GHRL_ENST00000422159.1_5'Flank|GHRL_ENST00000430179.1_Intron|GHRLOS_ENST00000605105.1_RNA|GHRLOS_ENST00000603771.1_RNA|GHRLOS_ENST00000605014.1_RNA|GHRL_ENST00000287656.7_Intron|GHRLOS_ENST00000439539.3_RNA|GHRL_ENST00000449238.2_Intron			Q9UBU3	GHRL_HUMAN	ghrelin/obestatin prepropeptide						actin polymerization or depolymerization (GO:0008154)|activation of MAPK activity (GO:0000187)|adult feeding behavior (GO:0008343)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|cortisol secretion (GO:0043400)|decidualization (GO:0046697)|dendrite development (GO:0016358)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric acid secretion (GO:0001696)|glucose metabolic process (GO:0006006)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of circadian sleep/wake cycle, REM sleep (GO:0042322)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of locomotion (GO:0040013)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of corticotropin secretion (GO:0051461)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of synapse assembly (GO:0051965)|regulation of cell proliferation (GO:0042127)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to estrogen (GO:0043627)|response to hormone (GO:0009725)	axon (GO:0030424)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|ghrelin receptor binding (GO:0031768)|growth hormone-releasing hormone activity (GO:0016608)|protein tyrosine kinase activator activity (GO:0030296)			breast(2)|large_intestine(1)|lung(1)|ovary(1)	5						CACCAACCCATAAAAAAAAAAA	0.52													|||unknown(HR)	98	0.0195687	0.0265	0.0231	5008	,	,		18204	0.003		0.0139	False		,,,				2504	0.0307																0																																										SO:0001627	intron_variant	0			AF296558	CCDS33700.1, CCDS46747.1, CCDS46748.1, CCDS46749.1, CCDS46750.1	3p26-p25	2013-02-26	2008-07-02		ENSG00000157017	ENSG00000157017		"""Endogenous ligands"""	18129	protein-coding gene	gene with protein product	"""prepro-appetite regulatory hormone"""	605353	"""ghrelin, growth hormone secretagogue receptor ligand"""			10930375, 10604470, 16284174	Standard	NR_024133		Approved	MTLRP, ghrelin, obestatin	uc010hdj.2	Q9UBU3	OTTHUMG00000155360	ENST00000335542.8:c.764+76->T	3.37:g.10334459_10334459dupA			A8CF34|A8CF38|A8CF42|A8DN29|A8DN30|Q86YP8|Q8TAT9|Q9H3R3	RNA	INS	-	NULL	ENST00000335542.8	37	NULL	CCDS33700.1	3																																																																																			GHRLOS	-	-	ENSG00000240288		0.520	GHRL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GHRLOS	HGNC	protein_coding	OTTHUMT00000339625.1		0.00	12	0	-	NM_016362		10334449	+1	tier1		no_errors	ENST00000439539	ensembl	human	known	74_37	rna	40.00	6	4	INS	0.000:0.000	A
GLIS3	169792	genome.wustl.edu	37	9	3856151	3856151	+	Silent	SNP	G	G	T	rs367576956		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:3856151G>T	ENST00000324333.10	-	8	2059	c.1866C>A	c.(1864-1866)atC>atA	p.I622I	GLIS3_ENST00000381971.3_Silent_p.I777I|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	622					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TCCGGGGGCTGATGTGGTGAG	0.478																																																	0													100.0	94.0	96.0					9																	3856151		2203	4300	6503	SO:0001819	synonymous_variant	0			BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.1866C>A	9.37:g.3856151G>T			B1AL19|Q1PHK5	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I777	ENST00000324333.10	37	c.2331	CCDS6451.1	9																																																																																			GLIS3	-	NULL	ENSG00000107249		0.478	GLIS3-003	KNOWN	basic|CCDS	protein_coding	GLIS3	HGNC	protein_coding	OTTHUMT00000051559.1	-	0.00	64	0	G	NM_152629		3856151	-1	tier1	-	no_errors	ENST00000381971	ensembl	human	known	74_37	silent	10.53	34	4	SNP	1.000	T
GNA14	9630	genome.wustl.edu	37	9	80262587	80262589	+	Splice_Site	DEL	CAG	CAG	-	rs144900584		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:80262587_80262589delCAG	ENST00000341700.6	-	1	634_636	c.121_123delCTG	c.(121-123)ctgdel	p.L41del		NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	41					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						GCCACTCACCCAGCAGCAGCAGC	0.685																																																	0																																										SO:0001630	splice_region_variant	0			AF105201	CCDS6657.1	9q21	2008-05-23			ENSG00000156049	ENSG00000156049			4382	protein-coding gene	gene with protein product		604397				10191087, 17620339	Standard	NM_004297		Approved		uc004aku.3	O95837	OTTHUMG00000020058	ENST00000341700.6:c.124+1CTG>-	9.37:g.80262596_80262598delCAG			B1ALW3	In_Frame_Del	DEL	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q	p.L41in_frame_del	ENST00000341700.6	37	c.123_121	CCDS6657.1	9																																																																																			GNA14	-	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su	ENSG00000156049		0.685	GNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA14	HGNC	protein_coding	OTTHUMT00000052759.1		0.00	99	0	CAG		In_Frame_Del	80262589	-1	tier1		no_errors	ENST00000341700	ensembl	human	known	74_37	in_frame_del	10.00	18	2	DEL	1.000:1.000:1.000	-
GOLGA2	2801	genome.wustl.edu	37	9	131020087	131020087	+	Nonsense_Mutation	SNP	C	C	A	rs371413148		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:131020087C>A	ENST00000421699.2	-	23	2524	c.2512G>T	c.(2512-2514)Gga>Tga	p.G838*	AL590708.1_ENST00000408370.1_RNA|GOLGA2_ENST00000609374.1_Nonsense_Mutation_p.G826*	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	838					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TCTGTCTCTCCAGAAAGCTGG	0.582																																																	0													341.0	333.0	336.0					9																	131020087		2203	4300	6503	SO:0001587	stop_gained	0			L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.2512G>T	9.37:g.131020087C>A	ENSP00000416097:p.Gly838*		Q6GRM9|Q9BRB0|Q9NYF9	Nonsense_Mutation	SNP	superfamily_CofA_tubulin-bd	p.G838*	ENST00000421699.2	37	c.2512	CCDS6896.2	9	.	.	.	.	.	.	.	.	.	.	c	35	5.533391	0.96460	.	.	ENSG00000167110	ENST00000421699;ENST00000342583	.	.	.	4.56	3.67	0.42095	.	0.049521	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	12.5111	0.56005	0.0:0.919:0.0:0.081	.	.	.	.	X	838;122	.	ENSP00000342692:G122X	G	-	1	0	GOLGA2	130059908	1.000000	0.71417	0.234000	0.24042	0.019000	0.09904	7.320000	0.79064	1.132000	0.42129	0.650000	0.86243	GGA	GOLGA2	-	NULL	ENSG00000167110		0.582	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA2	HGNC	protein_coding	OTTHUMT00000054358.2	-	0.00	130	0	C	NM_004486		131020087	-1	tier1	-	no_errors	ENST00000421699	ensembl	human	known	74_37	nonsense	8.00	46	4	SNP	0.997	A
GOLGA4	2803	genome.wustl.edu	37	3	37360696	37360697	+	Intron	INS	-	-	T	rs532989212		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr3:37360696_37360697insT	ENST00000361924.2	+	12	1919				GOLGA4_ENST00000435830.2_3'UTR|GOLGA4_ENST00000356847.4_Intron|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4						Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GTAAGTGACTATTTTTTTTTTT	0.416																																																	0																																										SO:0001627	intron_variant	0			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.1545+11->T	3.37:g.37360707_37360707dupT			F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	RNA	INS	-	NULL	ENST00000361924.2	37	NULL	CCDS2666.1	3																																																																																			GOLGA4	-	-	ENSG00000144674		0.416	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGA4	HGNC	protein_coding	OTTHUMT00000253339.2		0.00	32	0	-	NM_002078		37360697	+1	tier1		no_errors	ENST00000435830	ensembl	human	known	74_37	rna	12.00	22	3	INS	0.000:0.005	T
GPR112	139378	genome.wustl.edu	37	X	135427224	135427224	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chrX:135427224G>T	ENST00000394143.1	+	6	1650	c.1359G>T	c.(1357-1359)aaG>aaT	p.K453N	GPR112_ENST00000412101.1_Missense_Mutation_p.K248N|GPR112_ENST00000370652.1_Missense_Mutation_p.K453N|GPR112_ENST00000287534.4_Missense_Mutation_p.K390N|GPR112_ENST00000394141.1_Missense_Mutation_p.K248N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	453					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAGTGGAAAAGACTTCACCTG	0.478																																																	0													83.0	73.0	77.0					X																	135427224		2203	4300	6503	SO:0001583	missense	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.1359G>T	X.37:g.135427224G>T	ENSP00000377699:p.Lys453Asn		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.K453N	ENST00000394143.1	37	c.1359	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	g	2.301	-0.360110	0.05103	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.29397	1.6;1.6;1.57;1.71;1.57	3.78	-0.262	0.12958	.	.	.	.	.	T	0.14013	0.0339	N	0.14661	0.345	0.09310	N	1	B;B;B	0.33103	0.397;0.187;0.118	B;B;B	0.28638	0.092;0.055;0.025	T	0.16217	-1.0410	9	0.62326	D	0.03	.	3.3226	0.07056	0.3507:0.0:0.4658:0.1835	.	390;248;453	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	N	453;453;248;390;248	ENSP00000377699:K453N;ENSP00000359686:K453N;ENSP00000416526:K248N;ENSP00000287534:K390N;ENSP00000377697:K248N	ENSP00000287534:K390N	K	+	3	2	GPR112	135254890	0.128000	0.22383	0.001000	0.08648	0.048000	0.14542	0.140000	0.16056	-0.354000	0.08212	0.411000	0.27672	AAG	GPR112	-	NULL	ENSG00000156920		0.478	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	-	0.00	25	0	G			135427224	+1	tier1	-	no_errors	ENST00000370652	ensembl	human	known	74_37	missense	25.00	9	3	SNP	0.008	T
GPR158	57512	genome.wustl.edu	37	10	25887231	25887231	+	Silent	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:25887231G>T	ENST00000376351.3	+	11	3035	c.2676G>T	c.(2674-2676)ggG>ggT	p.G892G	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	892					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGAAAACTGGGCACCCACGAA	0.512																																																	0													103.0	104.0	103.0					10																	25887231		2203	4300	6503	SO:0001819	synonymous_variant	0			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2676G>T	10.37:g.25887231G>T			Q6QR81|Q9ULT3	Silent	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.G892	ENST00000376351.3	37	c.2676	CCDS31166.1	10																																																																																			GPR158	-	NULL	ENSG00000151025		0.512	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	HGNC	protein_coding	OTTHUMT00000047248.2	-	0.00	57	0	G	XM_166110		25887231	+1	tier1	-	no_errors	ENST00000376351	ensembl	human	known	74_37	silent	6.90	54	4	SNP	0.887	T
GTF3C5	9328	genome.wustl.edu	37	9	135906458	135906458	+	Silent	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:135906458G>T	ENST00000372097.5	+	1	383	c.60G>T	c.(58-60)cgG>cgT	p.R20R	GTF3C5_ENST00000485692.1_3'UTR|GTF3C5_ENST00000342018.8_Silent_p.R20R|GTF3C5_ENST00000372095.5_5'UTR|GTF3C5_ENST00000372099.6_Silent_p.R20R|GTF3C5_ENST00000372108.5_Silent_p.R20R	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	20					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		AGCTGAGGCGGGAGCGACGCA	0.711																																																	0													35.0	33.0	34.0					9																	135906458		2202	4300	6502	SO:0001819	synonymous_variant	0			AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"""General transcription factors"""	4668	protein-coding gene	gene with protein product	"""transcription factor IIIC, 63 kD"""	604890	"""general transcription factor IIIC, polypeptide 5 (63kD)"""			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.60G>T	9.37:g.135906458G>T			A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Silent	SNP	pfam_TF_IIIC_su-5	p.R20	ENST00000372097.5	37	c.60	CCDS6958.1	9																																																																																			GTF3C5	-	NULL	ENSG00000148308		0.711	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C5	HGNC	protein_coding	OTTHUMT00000054826.1	-	0.00	99	0	G	NM_001122823		135906458	+1	tier1	-	no_errors	ENST00000372108	ensembl	human	known	74_37	silent	27.27	8	3	SNP	0.490	T
H1FX	8971	genome.wustl.edu	37	3	129037060	129037060	+	5'Flank	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr3:129037060G>A	ENST00000333762.4	-	0	0				H1FX-AS1_ENST00000537780.1_RNA|H1FX-AS1_ENST00000511998.1_RNA|H1FX-AS1_ENST00000433902.2_RNA|H1FX-AS1_ENST00000383461.2_RNA|H1FX-AS1_ENST00000502789.2_RNA	NM_006026.3	NP_006017.1	Q92522	H1X_HUMAN	H1 histone family, member X						nucleosome assembly (GO:0006334)	nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			kidney(1)|ovary(1)|urinary_tract(2)	4						TGGAGTGACCGCAGTGTACAG	0.622																																																	0																																										SO:0001631	upstream_gene_variant	0			D64142	CCDS3057.1	3q21.3	2011-08-16			ENSG00000184897	ENSG00000184897		"""Histones / Replication-independent"""	4722	protein-coding gene	gene with protein product		602785				8964515, 9439656	Standard	NM_006026		Approved	MGC15959, MGC8350, H1X	uc003elx.3	Q92522	OTTHUMG00000159450		3.37:g.129037060G>A	Exception_encountered			RNA	SNP	-	NULL	ENST00000333762.4	37	NULL	CCDS3057.1	3																																																																																			H1FX-AS1	-	-	ENSG00000206417		0.622	H1FX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H1FX-AS1	HGNC	protein_coding	OTTHUMT00000355455.2	-	0.00	65	0	G	NM_006026		129037060	+1	tier1	-	no_errors	ENST00000383461	ensembl	human	known	74_37	rna	41.46	24	17	SNP	0.001	A
HDAC9	9734	genome.wustl.edu	37	7	18788726	18788726	+	Nonsense_Mutation	SNP	C	C	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr7:18788726C>T	ENST00000432645.2	+	13	1999	c.1999C>T	c.(1999-2001)Cga>Tga	p.R667*	HDAC9_ENST00000401921.1_Nonsense_Mutation_p.R626*|HDAC9_ENST00000406451.4_Nonsense_Mutation_p.R667*|HDAC9_ENST00000441542.2_Nonsense_Mutation_p.R670*	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	667	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TATCTGGTCACGACTGCAAGA	0.438																																																	0													79.0	78.0	78.0					7																	18788726		1925	4151	6076	SO:0001587	stop_gained	0			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1999C>T	7.37:g.18788726C>T	ENSP00000410337:p.Arg667*		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Nonsense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.R670*	ENST00000432645.2	37	c.2008	CCDS47555.1	7	.	.	.	.	.	.	.	.	.	.	C	39	7.378508	0.98248	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	.	.	.	5.3	5.3	0.74995	.	0.000000	0.52532	D	0.000072	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3851	11.8523	0.52417	0.2914:0.7086:0.0:0.0	.	.	.	.	X	667;626;667;670;579	.	ENSP00000339165:R579X	R	+	1	2	HDAC9	18755251	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.402000	0.44521	2.756000	0.94617	0.563000	0.77884	CGA	HDAC9	-	pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk	ENSG00000048052		0.438	HDAC9-023	KNOWN	basic|CCDS	protein_coding	HDAC9	HGNC	protein_coding	OTTHUMT00000376176.1	-	0.00	63	0	C			18788726	+1	tier1	-	no_errors	ENST00000441542	ensembl	human	known	74_37	nonsense	35.29	22	12	SNP	1.000	T
HECTD3	79654	genome.wustl.edu	37	1	45473171	45473171	+	Missense_Mutation	SNP	G	G	A	rs201302909		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:45473171G>A	ENST00000372172.4	-	10	1488	c.1417C>T	c.(1417-1419)Cgc>Tgc	p.R473C	HECTD3_ENST00000486132.1_5'Flank|HECTD3_ENST00000372168.3_Missense_Mutation_p.R83C	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	473					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R83C(1)|p.R473C(1)|p.R189C(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					ATGTATAGGCGTGGCATGAAG	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19156	0.0		0.0	False		,,,				2504	0.0																3	Substitution - Missense(3)	endometrium(3)											86.0	90.0	89.0					1																	45473171		2135	4236	6371	SO:0001583	missense	0			BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"""HECT domain containing 3"""			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.1417C>T	1.37:g.45473171G>A	ENSP00000361245:p.Arg473Cys		B3KPV7|B3KRH4|Q5T448|Q9H783	Missense_Mutation	SNP	pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT	p.R473C	ENST00000372172.4	37	c.1417	CCDS41318.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	15.60	2.880755	0.51801	.	.	ENSG00000126107	ENST00000372172;ENST00000372168	T;T	0.61392	0.11;0.32	5.86	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.41373	0.1156	L	0.27053	0.805	0.80722	D	1	B;B	0.21381	0.027;0.055	B;B	0.12156	0.007;0.007	T	0.20806	-1.0264	10	0.44086	T	0.13	.	8.7558	0.34645	0.0671:0.0:0.5365:0.3964	.	473;83	Q5T447;Q5T447-2	HECD3_HUMAN;.	C	473;83	ENSP00000361245:R473C;ENSP00000361241:R83C	ENSP00000361241:R83C	R	-	1	0	HECTD3	45245758	0.999000	0.42202	0.987000	0.45799	0.997000	0.91878	2.898000	0.48672	0.744000	0.32741	0.655000	0.94253	CGC	HECTD3	-	NULL	ENSG00000126107		0.607	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD3	HGNC	protein_coding	OTTHUMT00000023734.1		0.00	55	0	G	NM_024602		45473171	-1			no_errors	ENST00000372172	ensembl	human	known	74_37	missense	6.38	44	3	SNP	0.992	A
HIBCH	26275	genome.wustl.edu	37	2	191116968	191116968	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:191116968G>T	ENST00000359678.5	-	8	877	c.583C>A	c.(583-585)Ctt>Att	p.L195I	HIBCH_ENST00000392332.3_Missense_Mutation_p.L195I|HIBCH_ENST00000410045.1_5'Flank	NM_014362.3|NM_198047.2	NP_055177.2|NP_932164.1	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	195				LPRLQGKLGYFLALT -> FATTPRKTWLLPCIN (in Ref. 1; AAC52114). {ECO:0000305}.	branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	3-hydroxyisobutyryl-CoA hydrolase activity (GO:0003860)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			GTTAATGCAAGGAAGTAACCA	0.388																																																	0													90.0	82.0	84.0					2																	191116968		2203	4300	6503	SO:0001583	missense	0			U66669	CCDS2304.1, CCDS46475.1	2q32.3	2010-04-29	2010-04-29		ENSG00000198130	ENSG00000198130	3.1.2.4		4908	protein-coding gene	gene with protein product		610690	"""3-hydroxyisobutyryl-Coenzyme A hydrolase"""			8824301	Standard	NM_014362		Approved		uc002uru.3	Q6NVY1	OTTHUMG00000132673	ENST00000359678.5:c.583C>A	2.37:g.191116968G>T	ENSP00000352706:p.Leu195Ile		D3DPI4|Q53GA8|Q53GF2|Q53RF7|Q53TC6|Q92931|Q9BS94	Missense_Mutation	SNP	pfam_Crotonase_core_superfam	p.L195I	ENST00000359678.5	37	c.583	CCDS2304.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.111649	0.94339	.	.	ENSG00000198130	ENST00000392332;ENST00000359678;ENST00000409934	T;T;T	0.75154	-0.22;-0.91;-0.22	5.25	5.25	0.73442	Crotonase, core (1);	0.000000	0.85682	D	0.000000	D	0.86159	0.5866	M	0.81112	2.525	0.80722	D	1	D;P	0.53745	0.962;0.937	D;P	0.64237	0.923;0.839	D	0.87318	0.2316	10	0.56958	D	0.05	-14.9327	17.8231	0.88656	0.0:0.0:1.0:0.0	.	195;195	Q6NVY1-2;Q6NVY1	.;HIBCH_HUMAN	I	195;195;249	ENSP00000376144:L195I;ENSP00000352706:L195I;ENSP00000387247:L249I	ENSP00000352706:L195I	L	-	1	0	HIBCH	190825213	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.476000	0.97823	2.460000	0.83146	0.467000	0.42956	CTT	HIBCH	-	pfam_Crotonase_core_superfam	ENSG00000198130		0.388	HIBCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIBCH	HGNC	protein_coding	OTTHUMT00000255933.1	-	0.00	82	0	G			191116968	-1	tier1	-	no_errors	ENST00000359678	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T
HIST1H4C	8364	genome.wustl.edu	37	6	26104455	26104455	+	Missense_Mutation	SNP	C	C	G			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr6:26104455C>G	ENST00000377803.2	+	1	352	c.280C>G	c.(280-282)Cag>Gag	p.Q94E		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	94					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						CCTAAAACGTCAGGGGCGCAC	0.473																																																	0													59.0	53.0	55.0					6																	26104455		2203	4300	6503	SO:0001583	missense	0			X60486	CCDS4583.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000197061	ENSG00000197061		"""Histones / Replication-dependent"""	4787	protein-coding gene	gene with protein product		602827	"""H4 histone family, member G"", ""histone 1, H4c"""	H4FG		9119399, 12408966	Standard	NM_003542		Approved	H4/g, dJ221C16.1	uc003ngi.3	P62805	OTTHUMG00000014429	ENST00000377803.2:c.280C>G	6.37:g.26104455C>G	ENSP00000367034:p.Gln94Glu		A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.Q94E	ENST00000377803.2	37	c.280	CCDS4583.1	6	.	.	.	.	.	.	.	.	.	.	.	19.39	3.818775	0.71028	.	.	ENSG00000197061	ENST00000377803	T	0.68903	-0.36	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.75332	0.3835	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	T	0.78981	-0.1989	7	0.87932	D	0	.	16.8557	0.86005	0.0:1.0:0.0:0.0	.	.	.	.	E	94	ENSP00000367034:Q94E	ENSP00000367034:Q94E	Q	+	1	0	HIST1H4C	26212434	1.000000	0.71417	1.000000	0.80357	0.300000	0.27592	7.651000	0.83577	2.533000	0.85409	0.555000	0.69702	CAG	HIST1H4C	-	pfam_Histone_core_D,superfamily_Histone-fold,prints_Histone_H4	ENSG00000197061		0.473	HIST1H4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4C	HGNC	protein_coding	OTTHUMT00000040092.2	-	0.00	60	0	C	NM_003542		26104455	+1	tier1	-	no_errors	ENST00000377803	ensembl	human	known	74_37	missense	15.25	50	9	SNP	1.000	G
HMBOX1	79618	genome.wustl.edu	37	8	28827691	28827691	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr8:28827691G>A	ENST00000397358.3	+	4	859	c.155G>A	c.(154-156)cGt>cAt	p.R52H	HMBOX1_ENST00000524238.1_Missense_Mutation_p.R52H|HMBOX1_ENST00000523613.1_Missense_Mutation_p.R52H|HMBOX1_ENST00000519047.1_Missense_Mutation_p.R52H|HMBOX1_ENST00000355231.5_Missense_Mutation_p.R52H|HMBOX1_ENST00000403668.2_Missense_Mutation_p.R52H|HMBOX1_ENST00000444075.1_Missense_Mutation_p.R52H|HMBOX1_ENST00000287701.10_Missense_Mutation_p.R52H|HMBOX1_ENST00000558662.1_Missense_Mutation_p.R52H	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	52					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		ACTTTGGACCGTCTTGATCAA	0.438																																																	0													119.0	109.0	113.0					8																	28827691		2203	4300	6503	SO:0001583	missense	0			AY522342	CCDS6071.1	8p12	2013-05-23			ENSG00000147421	ENSG00000147421		"""Homeoboxes / HNF class"""	26137	protein-coding gene	gene with protein product	"""homeobox telomere-binding protein 1"""					16825764	Standard	NM_024567		Approved	HNF1LA, PBHNF, FLJ21616, HOT1	uc003xhd.4	Q6NT76	OTTHUMG00000172138	ENST00000397358.3:c.155G>A	8.37:g.28827691G>A	ENSP00000380516:p.Arg52His		A4K385|A8K3R8|B4DHY5|D3DSU0|Q3Y6P1|Q96GS5|Q9H701	Missense_Mutation	SNP	pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.R52H	ENST00000397358.3	37	c.155	CCDS6071.1	8	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883550	0.72410	.	.	ENSG00000147421	ENST00000287701;ENST00000444075;ENST00000403668;ENST00000519662;ENST00000519047;ENST00000397358;ENST00000524238;ENST00000517340;ENST00000355231	T;T;T;T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.94	5.62	5.62	0.85841	Hepatocyte nuclear factor 1, N-terminal (1);	0.171080	0.53938	D	0.000054	T	0.51483	0.1677	L	0.59436	1.845	0.58432	D	0.999999	B;P;B;B;B;P	0.35411	0.445;0.5;0.445;0.14;0.011;0.5	B;B;B;B;B;B	0.28916	0.058;0.096;0.058;0.014;0.005;0.057	T	0.56974	-0.7890	10	0.72032	D	0.01	-5.7914	19.6604	0.95864	0.0:0.0:1.0:0.0	.	52;52;52;52;52;52	Q6NT76-5;D3DSU2;Q6NT76-2;Q6NT76-3;Q6NT76;E5RGZ2	.;.;.;.;HMBX1_HUMAN;.	H	52	ENSP00000287701:R52H;ENSP00000401769:R52H;ENSP00000384261:R52H;ENSP00000429767:R52H;ENSP00000430059:R52H;ENSP00000380516:R52H;ENSP00000430110:R52H;ENSP00000430677:R52H	ENSP00000287701:R52H	R	+	2	0	HMBOX1	28883610	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.218000	0.65257	2.648000	0.89879	0.655000	0.94253	CGT	HMBOX1	-	pfam_HNF-1_N	ENSG00000147421		0.438	HMBOX1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	HMBOX1	HGNC	protein_coding	OTTHUMT00000255267.4	-	0.00	46	0	G	NM_024567		28827691	+1	tier1	-	no_errors	ENST00000444075	ensembl	human	known	74_37	missense	19.05	34	8	SNP	1.000	A
HNRNPH1	3187	genome.wustl.edu	37	5	179050064	179050064	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:179050064G>A	ENST00000356731.5	-	1	1606	c.71C>T	c.(70-72)gCc>gTc	p.A24V	HNRNPH1_ENST00000393432.4_Missense_Mutation_p.A24V|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.A24V|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.A24V|HNRNPH1_ENST00000524180.1_5'UTR|HNRNPH1_ENST00000510411.1_Missense_Mutation_p.A24V			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	24	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)	p.A24V(3)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						CACTTCATCGGCCGAGCAAGA	0.637																																																	3	Substitution - Missense(3)	kidney(3)											83.0	72.0	76.0					5																	179050064		2203	4300	6503	SO:0001583	missense	0			BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"""RNA binding motif (RRM) containing"""	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.71C>T	5.37:g.179050064G>A	ENSP00000349168:p.Ala24Val		B3KW86|D3DWQ2|Q6IBM4	Missense_Mutation	SNP	pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom	p.A24V	ENST00000356731.5	37	c.71	CCDS4446.1	5	.	.	.	.	.	.	.	.	.	.	g	6.515	0.463169	0.12402	.	.	ENSG00000169045	ENST00000393432;ENST00000442819;ENST00000356731;ENST00000329433;ENST00000510411;ENST00000503105;ENST00000508103;ENST00000506721;ENST00000523137;ENST00000505811;ENST00000510431;ENST00000519056;ENST00000504348;ENST00000513225;ENST00000515158;ENST00000521116;ENST00000515714;ENST00000503664;ENST00000522256	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;3.36;1.56;1.56;1.56;1.56;1.56	3.58	3.58	0.41010	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.261210	0.37906	N	0.001892	T	0.16257	0.0391	N	0.12443	0.215	0.58432	D	0.999995	B	0.09022	0.002	B	0.16722	0.016	T	0.07009	-1.0795	10	0.20519	T	0.43	-2.2153	10.5509	0.45087	0.0:0.0:0.8062:0.1938	.	24	P31943	HNRH1_HUMAN	V	24	ENSP00000377082:A24V;ENSP00000397797:A24V;ENSP00000349168:A24V;ENSP00000327539:A24V;ENSP00000426275:A24V;ENSP00000427408:A24V;ENSP00000425732:A24V;ENSP00000420850:A24V;ENSP00000427986:A24V;ENSP00000424087:A24V;ENSP00000423140:A24V;ENSP00000430970:A24V;ENSP00000427388:A24V;ENSP00000426518:A24V;ENSP00000421695:A24V;ENSP00000429661:A24V;ENSP00000425343:A24V;ENSP00000426726:A24V	ENSP00000327539:A24V	A	-	2	0	HNRNPH1	178982670	0.775000	0.28604	0.783000	0.31826	0.887000	0.51463	2.903000	0.48711	1.699000	0.51192	0.491000	0.48974	GCC	HNRNPH1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000169045		0.637	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HNRNPH1	HGNC	protein_coding	OTTHUMT00000253497.3	-	0.00	154	0	G	NM_005520		179050064	-1	tier1	-	no_errors	ENST00000356731	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.678	A
HRH1	3269	genome.wustl.edu	37	3	11301579	11301579	+	Missense_Mutation	SNP	C	C	A	rs373661540		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr3:11301579C>A	ENST00000397056.1	+	3	1047	c.856C>A	c.(856-858)Cca>Aca	p.P286T	HRH1_ENST00000438284.2_Missense_Mutation_p.P286T|HRH1_ENST00000431010.2_Missense_Mutation_p.P286T	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	286					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	GATGAAATCCCCAGTTGTCTT	0.502																																																	0													60.0	66.0	64.0					3																	11301579		2203	4300	6503	SO:0001583	missense	0				CCDS2604.1	3p25	2012-11-12			ENSG00000196639	ENSG00000196639		"""GPCR / Class A : Histamine receptors"""	5182	protein-coding gene	gene with protein product		600167				8003029	Standard	NM_001098211		Approved		uc010hds.3	P35367	OTTHUMG00000129719	ENST00000397056.1:c.856C>A	3.37:g.11301579C>A	ENSP00000380247:p.Pro286Thr		A8K047|Q6P9E5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H1_rcpt,prints_GPCR_Rhodpsn,prints_Musac_Ach_rcpt	p.P286T	ENST00000397056.1	37	c.856	CCDS2604.1	3	.	.	.	.	.	.	.	.	.	.	C	4.216	0.038902	0.08148	.	.	ENSG00000196639	ENST00000438284;ENST00000431010;ENST00000397056	T;T;T	0.65916	-0.18;-0.18;-0.18	6.07	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.156075	0.41097	D	0.000950	T	0.58352	0.2116	M	0.70275	2.135	0.09310	N	1	B	0.31503	0.326	B	0.35182	0.197	T	0.47262	-0.9131	10	0.10636	T	0.68	-5.7995	11.9877	0.53157	0.0:0.6104:0.3227:0.0669	.	286	P35367	HRH1_HUMAN	T	286	ENSP00000406705:P286T;ENSP00000397028:P286T;ENSP00000380247:P286T	ENSP00000380247:P286T	P	+	1	0	HRH1	11276579	0.000000	0.05858	0.008000	0.14137	0.168000	0.22595	0.235000	0.17948	0.874000	0.35823	0.650000	0.86243	CCA	HRH1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000196639		0.502	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH1	HGNC	protein_coding	OTTHUMT00000251928.2		0.00	70	0	C			11301579	+1			no_errors	ENST00000397056	ensembl	human	known	74_37	missense	10.00	27	3	SNP	0.001	A
IARS	3376	genome.wustl.edu	37	9	95043051	95043051	+	Missense_Mutation	SNP	T	T	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:95043051T>A	ENST00000375643.3	-	7	988	c.722A>T	c.(721-723)gAa>gTa	p.E241V	IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.E241V|IARS_ENST00000447699.2_Missense_Mutation_p.E131V	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	241					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	ATATTGCATTTCTGGATTAAC	0.348																																																	0													108.0	103.0	105.0					9																	95043051		2203	4300	6503	SO:0001583	missense	0			AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.722A>T	9.37:g.95043051T>A	ENSP00000364794:p.Glu241Val		A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase	p.E241V	ENST00000375643.3	37	c.722	CCDS6694.1	9	.	.	.	.	.	.	.	.	.	.	T	16.75	3.208891	0.58343	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660;ENST00000395554	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.45	5.45	0.79879	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.412136	0.27912	N	0.017341	T	0.56717	0.2004	M	0.91663	3.23	0.80722	D	1	B;B	0.20459	0.009;0.045	B;B	0.28465	0.061;0.09	T	0.62062	-0.6933	10	0.72032	D	0.01	-6.6741	14.789	0.69824	0.0:0.0:0.0:1.0	.	241;86	P41252;Q6P0M4	SYIC_HUMAN;.	V	241;241;131;241;241	ENSP00000364794:E241V;ENSP00000406448:E241V;ENSP00000415020:E131V;ENSP00000378922:E241V	ENSP00000364794:E241V	E	-	2	0	IARS	94082872	1.000000	0.71417	0.976000	0.42696	0.682000	0.39822	7.748000	0.85085	2.193000	0.70182	0.533000	0.62120	GAA	IARS	-	pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase	ENSG00000196305		0.348	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS	HGNC	protein_coding	OTTHUMT00000053059.2	-	0.00	60	0	T	NM_002161		95043051	-1	tier1	-	no_errors	ENST00000375643	ensembl	human	known	74_37	missense	13.98	80	13	SNP	0.996	A
IFIT2	3433	genome.wustl.edu	37	10	91066977	91066977	+	Nonsense_Mutation	SNP	C	C	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:91066977C>T	ENST00000371826.3	+	2	1433	c.1264C>T	c.(1264-1266)Cga>Tga	p.R422*	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	422					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				TGCCAAAATGCGACTTTCTAA	0.393																																																	0													128.0	120.0	123.0					10																	91066977		1831	4085	5916	SO:0001587	stop_gained	0			M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"""Tetratricopeptide (TTC) repeat domain containing"""	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.1264C>T	10.37:g.91066977C>T	ENSP00000360891:p.Arg422*		Q5T767	Nonsense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R422*	ENST00000371826.3	37	c.1264	CCDS41548.1	10	.	.	.	.	.	.	.	.	.	.	C	23.5	4.420645	0.83559	.	.	ENSG00000119922	ENST00000371826	.	.	.	4.58	1.48	0.22813	.	0.534254	0.16694	U	0.203422	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.1255	12.5012	0.55955	0.7486:0.2513:0.0:0.0	.	.	.	.	X	422	.	ENSP00000360891:R422X	R	+	1	2	IFIT2	91056957	0.000000	0.05858	0.039000	0.18376	0.059000	0.15707	0.363000	0.20301	0.312000	0.23038	-0.152000	0.13540	CGA	IFIT2	-	NULL	ENSG00000119922		0.393	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIT2	HGNC	protein_coding	OTTHUMT00000049293.1		0.00	63	0	C	NM_001547		91066977	+1			no_errors	ENST00000371826	ensembl	human	known	74_37	nonsense	5.00	38	2	SNP	0.007	T
IGSF11	152404	genome.wustl.edu	37	3	118649028	118649028	+	Silent	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr3:118649028G>A	ENST00000393775.2	-	2	452	c.147C>T	c.(145-147)agC>agT	p.S49S	IGSF11_ENST00000459718.1_5'UTR|IGSF11_ENST00000425327.2_Silent_p.S48S|IGSF11_ENST00000354673.2_Silent_p.S48S|IGSF11_ENST00000489689.1_Silent_p.S49S|IGSF11_ENST00000441144.2_Silent_p.S48S|IGSF11_ENST00000491903.1_Silent_p.S49S	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	49	Ig-like V-type.				cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGAGGGCAGCGCTGGTAGTGA	0.542																																																	0													137.0	127.0	130.0					3																	118649028		2203	4300	6503	SO:0001819	synonymous_variant	0			AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.147C>T	3.37:g.118649028G>A			C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S49	ENST00000393775.2	37	c.147	CCDS46891.1	3																																																																																			IGSF11	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000144847		0.542	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF11	HGNC	protein_coding	OTTHUMT00000355075.2	-	0.00	84	0	G			118649028	-1	tier1	-	no_errors	ENST00000393775	ensembl	human	known	74_37	silent	15.56	38	7	SNP	0.360	A
IL1A	3552	genome.wustl.edu	37	2	113539200	113539200	+	Silent	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:113539200G>A	ENST00000263339.3	-	4	455	c.300C>T	c.(298-300)atC>atT	p.I100I		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	100					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|response to copper ion (GO:0046688)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	copper ion binding (GO:0005507)|cytokine activity (GO:0005125)			breast(2)|large_intestine(1)|lung(9)	12					Rilonacept(DB06372)	AGTCATTGGCGATGGCCTCCA	0.438																																																	0													194.0	182.0	186.0					2																	113539200		2203	4300	6503	SO:0001819	synonymous_variant	0			M28983	CCDS2101.1	2q14	2014-01-30			ENSG00000115008	ENSG00000115008		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5991	protein-coding gene	gene with protein product	"""preinterleukin 1 alpha"", ""hematopoietin-1"", ""pro-interleukin-1-alpha"""	147760		IL1		8188271, 2989698	Standard	NM_000575		Approved	IL1F1, IL-1A, IL1-ALPHA	uc002tig.3	P01583	OTTHUMG00000131315	ENST00000263339.3:c.300C>T	2.37:g.113539200G>A			Q53QF9|Q7RU02	Silent	SNP	pfam_IL-1_propep,pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1_alpha,prints_IL-1_alpha/beta,prints_IL-1	p.I100	ENST00000263339.3	37	c.300	CCDS2101.1	2																																																																																			IL1A	-	pfam_IL-1_propep,prints_IL-1_alpha	ENSG00000115008		0.438	IL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1A	HGNC	protein_coding	OTTHUMT00000254084.1	-	0.00	122	0	G	NM_000575		113539200	-1	tier1	-	no_errors	ENST00000263339	ensembl	human	known	74_37	silent	30.36	78	34	SNP	0.216	A
IL25	64806	genome.wustl.edu	37	14	23844855	23844855	+	Silent	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr14:23844855G>A	ENST00000329715.2	+	2	558	c.300G>A	c.(298-300)cgG>cgA	p.R100R	CMTM5_ENST00000342473.4_5'Flank|CMTM5_ENST00000397227.3_5'Flank|CMTM5_ENST00000339180.4_5'Flank|CMTM5_ENST00000555731.1_5'Flank|CMTM5_ENST00000359320.3_5'Flank|IL25_ENST00000397242.2_Silent_p.R84R|CMTM5_ENST00000382809.2_5'Flank	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	100					eosinophil differentiation (GO:0030222)|inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to fungus (GO:0009620)|response to nematode (GO:0009624)	extracellular space (GO:0005615)	interleukin-17E receptor binding (GO:0030380)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		ACTTGAACCGGCTCCCCCAGG	0.647																																																	0													99.0	102.0	101.0					14																	23844855		2203	4300	6503	SO:0001819	synonymous_variant	0			AF305200	CCDS9597.1, CCDS45086.1	14q11.2	2008-01-07	2006-05-17	2006-05-17	ENSG00000166090	ENSG00000166090		"""Interleukins and interleukin receptors"""	13765	protein-coding gene	gene with protein product		605658	"""interleukin 17E"""	IL17E		11058597, 11754819	Standard	NM_172314		Approved	IL-25, IL-17E	uc001wjq.3	Q9H293	OTTHUMG00000028749	ENST00000329715.2:c.300G>A	14.37:g.23844855G>A			Q2M3F0|Q8IZV3|Q8WXB0	Silent	SNP	pfam_IL-17_fam	p.R100	ENST00000329715.2	37	c.300	CCDS9597.1	14																																																																																			IL25	-	pfam_IL-17_fam	ENSG00000166090		0.647	IL25-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL25	HGNC	protein_coding	OTTHUMT00000071789.2		0.00	135	0	G			23844855	+1			no_errors	ENST00000329715	ensembl	human	known	74_37	silent	8.51	43	4	SNP	1.000	A
QRICH1	54870	genome.wustl.edu	37	3	49065323	49065323	+	IGR	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr3:49065323G>T	ENST00000395443.2	-	0	3549				IMPDH2_ENST00000326739.4_Missense_Mutation_p.D117E|RP13-131K19.6_ENST00000607245.1_RNA	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1							nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GGACCACAGGGTCTGTGATGA	0.532																																																	0													56.0	51.0	53.0					3																	49065323		2203	4300	6503	SO:0001628	intergenic_variant	0				CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772		3.37:g.49065323G>T			Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	pfam_IMP_DH_GMPRt,pfam_CBS_dom,pfam_2Npropane_dOase,pfam_FMN-dep_DH,pfam_NanE,smart_CBS_dom,pirsf_IMP_DH,tigrfam_IMP_DH	p.D117E	ENST00000395443.2	37	c.351	CCDS2787.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.1|23.1	4.369003|4.369003	0.82463|0.82463	.|.	.|.	ENSG00000178035|ENSG00000178035	ENST00000537036;ENST00000326739;ENST00000442157|ENST00000429182	D;D|.	0.93712|.	-3.27;-3.27|.	6.08|6.08	3.34|3.34	0.38264|0.38264	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (3);IMP dehydrogenase/GMP reductase (1);|.	0.040031|.	0.85682|.	D|.	0.000000|.	T|T	0.65749|0.65749	0.2721|0.2721	M|M	0.76170|0.76170	2.325|2.325	0.58432|0.58432	D|D	0.999999|0.999999	P|.	0.41978|.	0.767|.	P|.	0.53649|.	0.731|.	T|T	0.64076|0.64076	-0.6492|-0.6492	10|5	0.66056|.	D|.	0.02|.	-30.2655|-30.2655	8.9107|8.9107	0.35552|0.35552	0.2767:0.0:0.7233:0.0|0.2767:0.0:0.7233:0.0	.|.	117|.	P12268|.	IMDH2_HUMAN|.	E|T	117;117;92|49	ENSP00000321584:D117E;ENSP00000403502:D92E|.	ENSP00000321584:D117E|.	D|P	-|-	3|1	2|0	IMPDH2|IMPDH2	49040327|49040327	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	1.804000|1.804000	0.38873|0.38873	0.908000|0.908000	0.36671|0.36671	-0.140000|-0.140000	0.14226|0.14226	GAC|CCC	IMPDH2	-	pfam_IMP_DH_GMPRt,pfam_CBS_dom,pfam_2Npropane_dOase,smart_CBS_dom,pirsf_IMP_DH,tigrfam_IMP_DH	ENSG00000178035		0.532	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPDH2	HGNC	protein_coding	OTTHUMT00000345669.1	-	0.00	81	0	G	NM_017730		49065323	-1	tier1	-	no_errors	ENST00000326739	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T
INHBA	3624	genome.wustl.edu	37	7	41729607	41729607	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr7:41729607G>A	ENST00000242208.4	-	3	1168	c.922C>T	c.(922-924)Cgt>Tgt	p.R308C	INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.R308C	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	308					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CCCCGCCGACGCCGGCGATGA	0.557										TSP Lung(11;0.080)																																							0													102.0	107.0	106.0					7																	41729607		2203	4300	6503	SO:0001583	missense	0				CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.922C>T	7.37:g.41729607G>A	ENSP00000242208:p.Arg308Cys		Q14599	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu	p.R308C	ENST00000242208.4	37	c.922	CCDS5464.1	7	.	.	.	.	.	.	.	.	.	.	.	14.88	2.667375	0.47677	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.81078	-1.45;-1.45	5.82	3.97	0.46021	Transforming growth factor-beta, C-terminal (1);	0.169098	0.53938	D	0.000059	D	0.89252	0.6662	M	0.87269	2.87	0.80722	D	1	D	0.76494	0.999	P	0.61275	0.886	D	0.90438	0.4429	10	0.87932	D	0	-20.4552	13.9132	0.63881	0.0:0.0:0.6004:0.3996	.	308	P08476	INHBA_HUMAN	C	308	ENSP00000242208:R308C;ENSP00000397197:R308C	ENSP00000242208:R308C	R	-	1	0	INHBA	41696132	0.898000	0.30612	0.799000	0.32177	0.986000	0.74619	2.807000	0.47955	0.762000	0.33152	0.484000	0.47621	CGT	INHBA	-	NULL	ENSG00000122641		0.557	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBA	HGNC	protein_coding	OTTHUMT00000250793.1	-	0.00	57	0	G			41729607	-1	tier1	-	no_errors	ENST00000242208	ensembl	human	known	74_37	missense	32.65	33	16	SNP	0.992	A
ING3	54556	genome.wustl.edu	37	7	120593360	120593360	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr7:120593360G>T	ENST00000315870.5	+	3	251	c.103G>T	c.(103-105)Gca>Tca	p.A35S	ING3_ENST00000339121.5_Missense_Mutation_p.A35S|ING3_ENST00000445699.1_Missense_Mutation_p.A35S|ING3_ENST00000431467.1_Missense_Mutation_p.A20S	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	35					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|positive regulation of apoptotic process (GO:0043065)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					TGTCATAGATGCAATGGATCA	0.308																																																	0													83.0	90.0	88.0					7																	120593360		2203	4298	6501	SO:0001583	missense	0			AF074968	CCDS5778.1, CCDS35497.1	7q31	2013-01-28			ENSG00000071243	ENSG00000071243		"""Zinc fingers, PHD-type"""	14587	protein-coding gene	gene with protein product		607493				12080476	Standard	NM_019071		Approved	p47ING3, FLJ20089, Eaf4, MEAF4	uc003vjn.3	Q9NXR8	OTTHUMG00000141270	ENST00000315870.5:c.103G>T	7.37:g.120593360G>T	ENSP00000320566:p.Ala35Ser		A8K790|O60394|Q567P3|Q6GMT3|Q7Z762|Q969G0|Q96DT4|Q9HC99|Q9P081	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.A35S	ENST00000315870.5	37	c.103	CCDS5778.1	7	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774345	0.69992	.	.	ENSG00000071243	ENST00000315870;ENST00000339121;ENST00000445699;ENST00000431467	D;D	0.95137	-3.62;-3.6	5.87	5.87	0.94306	Inhibitor of growth protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	N	0.05124	-0.11	0.80722	D	1	B;D;D;B;B	0.69078	0.013;0.997;0.992;0.01;0.009	B;D;D;B;B	0.80764	0.008;0.994;0.989;0.009;0.021	D	0.91201	0.4991	10	0.18276	T	0.48	-25.3112	19.3531	0.94398	0.0:0.0:1.0:0.0	.	35;35;35;35;35	B7ZKQ7;Q5GRH6;Q9NXR8;Q9NXR8-2;C9JUT0	.;.;ING3_HUMAN;.;.	S	35;35;35;20	ENSP00000320566:A35S;ENSP00000388506:A20S	ENSP00000320566:A35S	A	+	1	0	ING3	120380596	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.366000	0.97143	2.941000	0.99782	0.655000	0.94253	GCA	ING3	-	NULL	ENSG00000071243		0.308	ING3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ING3	HGNC	protein_coding	OTTHUMT00000280453.2	-	0.00	29	0	G	NM_019071		120593360	+1	tier1	-	no_errors	ENST00000315870	ensembl	human	known	74_37	missense	6.45	57	4	SNP	1.000	T
INPP5D	3635	genome.wustl.edu	37	2	234056177	234056177	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:234056177G>T	ENST00000359570.5	+	11	931	c.931G>T	c.(931-933)Ggg>Tgg	p.G311W	INPP5D_ENST00000455936.2_Missense_Mutation_p.G75W|INPP5D_ENST00000450745.1_Missense_Mutation_p.G75W|INPP5D_ENST00000538935.1_Missense_Mutation_p.G310W			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	323					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CGTTGAGTCTGGGAAACTGAT	0.473																																					NSCLC(82;1215 1426 16163 20348 41018)												0													102.0	102.0	102.0					2																	234056177		692	1591	2283	SO:0001583	missense	0			U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.931G>T	2.37:g.234056177G>T	ENSP00000352575:p.Gly311Trp		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2	p.G311W	ENST00000359570.5	37	c.931		2	.	.	.	.	.	.	.	.	.	.	g	19.79	3.892614	0.72524	.	.	ENSG00000168918	ENST00000359570;ENST00000538935;ENST00000450745;ENST00000455936	D;D;D;D	0.98567	-5.0;-4.71;-4.93;-4.93	4.82	4.82	0.62117	.	.	.	.	.	D	0.98924	0.9635	.	.	.	0.48452	D	0.999656	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99840	1.1061	8	0.87932	D	0	.	16.7637	0.85519	0.0:0.0:1.0:0.0	.	322;323	Q92835-2;Q92835	.;SHIP1_HUMAN	W	311;310;75;75	ENSP00000352575:G311W;ENSP00000441010:G310W;ENSP00000407916:G75W;ENSP00000404610:G75W	ENSP00000352575:G311W	G	+	1	0	INPP5D	.	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.987000	0.88182	2.246000	0.74042	0.638000	0.83543	GGG	INPP5D	-	NULL	ENSG00000168918		0.473	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	INPP5D	HGNC	protein_coding		-	0.00	100	0	G	NM_001017915		234056177	+1	tier1	-	no_errors	ENST00000359570	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T
INPP5D	3635	genome.wustl.edu	37	2	234094525	234094525	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:234094525G>T	ENST00000359570.5	+	23	2276	c.2276G>T	c.(2275-2277)gGa>gTa	p.G759V	INPP5D_ENST00000455936.2_Missense_Mutation_p.G523V|INPP5D_ENST00000450745.1_Missense_Mutation_p.G523V			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	771					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AATGAAGAAGGAAGTGAGGGG	0.463																																					NSCLC(82;1215 1426 16163 20348 41018)												0													86.0	92.0	90.0					2																	234094525		1914	4121	6035	SO:0001583	missense	0			U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.2276G>T	2.37:g.234094525G>T	ENSP00000352575:p.Gly759Val		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2	p.G759V	ENST00000359570.5	37	c.2276		2	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338004	0.81911	.	.	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	D;D;D;D;D;D	0.96459	-3.96;-4.01;-4.01;-4.02;-4.02;-4.02	5.34	5.34	0.76211	.	0.398136	0.28549	N	0.014954	D	0.97898	0.9309	.	.	.	0.80722	D	1	D;D	0.62365	0.991;0.985	P;P	0.61201	0.885;0.771	D	0.98400	1.0567	9	0.62326	D	0.03	.	19.1318	0.93410	0.0:0.0:1.0:0.0	.	770;771	Q92835-2;Q92835	.;SHIP1_HUMAN	V	759;523;523;392;392;392	ENSP00000352575:G759V;ENSP00000407916:G523V;ENSP00000404610:G523V;ENSP00000400151:G392V;ENSP00000397421:G392V;ENSP00000405338:G392V	ENSP00000352575:G759V	G	+	2	0	INPP5D	233759264	1.000000	0.71417	0.927000	0.36925	0.989000	0.77384	5.081000	0.64444	2.510000	0.84645	0.650000	0.86243	GGA	INPP5D	-	NULL	ENSG00000168918		0.463	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	INPP5D	HGNC	protein_coding		-	0.00	101	0	G	NM_001017915		234094525	+1	tier1	-	no_errors	ENST00000359570	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.996	T
IQGAP3	128239	genome.wustl.edu	37	1	156502788	156502788	+	Missense_Mutation	SNP	G	G	T	rs200621017	byFrequency	TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:156502788G>T	ENST00000361170.2	-	32	4097	c.4087C>A	c.(4087-4089)Cgt>Agt	p.R1363S		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1363					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGCAGGCTACGGGTGTTGGAG	0.577																																																	0													227.0	176.0	194.0					1																	156502788		2203	4300	6503	SO:0001583	missense	0			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.4087C>A	1.37:g.156502788G>T	ENSP00000354451:p.Arg1363Ser		Q5T3H8	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP	p.R1363S	ENST00000361170.2	37	c.4087	CCDS1144.1	1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.414217	0.25465	.	.	ENSG00000183856	ENST00000361170	T	0.41758	0.99	4.23	2.12	0.27331	.	0.765932	0.11552	N	0.552704	T	0.15219	0.0367	L	0.34521	1.04	0.09310	N	1	B	0.24483	0.104	B	0.19946	0.027	T	0.25117	-1.0141	10	0.42905	T	0.14	-1.6696	11.1955	0.48711	0.0:0.0:0.6103:0.3897	.	1363	Q86VI3	IQGA3_HUMAN	S	1363	ENSP00000354451:R1363S	ENSP00000354451:R1363S	R	-	1	0	IQGAP3	154769412	0.323000	0.24643	0.009000	0.14445	0.039000	0.13416	2.095000	0.41729	1.087000	0.41251	0.462000	0.41574	CGT	IQGAP3	-	NULL	ENSG00000183856		0.577	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP3	HGNC	protein_coding	OTTHUMT00000080657.1	-	0.00	75	0	G	NM_178229		156502788	-1	tier1	-	no_errors	ENST00000361170	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.035	T
ITGB3BP	23421	genome.wustl.edu	37	1	63912271	63912271	+	Intron	SNP	C	C	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:63912271C>T	ENST00000271002.10	-	8	617				ITGB3BP_ENST00000371092.3_Intron|ITGB3BP_ENST00000461681.1_Intron	NM_014288.4	NP_055103.3	Q13352	CENPR_HUMAN	integrin beta 3 binding protein (beta3-endonexin)						apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						CAGTTCTTTCCAATCAGCCTC	0.363																																																	0																																										SO:0001627	intron_variant	0			U37139	CCDS30736.1, CCDS55603.1	1p31.3	2013-11-05			ENSG00000142856	ENSG00000142856			6157	protein-coding gene	gene with protein product	"""centromere protein R"""	605494				7593198, 10490654	Standard	NM_014288		Approved	NRIF3, HSU37139, TAP20, CENPR	uc001dbb.2	Q13352	OTTHUMG00000013364	ENST00000271002.10:c.531+205G>A	1.37:g.63912271C>T			B2R7D8|Q13353|Q5RJ42|Q5RJ44|Q5RJ45|Q7KYX2|Q96CD5|Q9UKB6	RNA	SNP	-	NULL	ENST00000271002.10	37	NULL	CCDS30736.1	1																																																																																			ITGB3BP	-	-	ENSG00000142856		0.363	ITGB3BP-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGB3BP	HGNC	protein_coding	OTTHUMT00000037242.2	-	0.00	18	0	C	NM_014288		63912271	-1	tier1	-	no_errors	ENST00000478538	ensembl	human	putative	74_37	rna	35.00	13	7	SNP	0.000	T
IVL	3713	genome.wustl.edu	37	1	152883028	152883028	+	Missense_Mutation	SNP	A	A	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:152883028A>T	ENST00000368764.3	+	2	819	c.755A>T	c.(754-756)cAg>cTg	p.Q252L	IVL_ENST00000392667.2_Missense_Mutation_p.Q106L			P07476	INVO_HUMAN	involucrin	252	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			caggaggggcagctggagctc	0.667																																																	0													8.0	9.0	9.0					1																	152883028		1957	3876	5833	SO:0001583	missense	0			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.755A>T	1.37:g.152883028A>T	ENSP00000357753:p.Gln252Leu		Q5T7P4	Missense_Mutation	SNP	pfam_Involucrin_N,pfam_Involucrin_rpt	p.Q252L	ENST00000368764.3	37	c.755	CCDS1030.1	1	.	.	.	.	.	.	.	.	.	.	A	9.985	1.229096	0.22542	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.11930	3.02;2.73	3.02	1.81	0.25067	.	.	.	.	.	T	0.05914	0.0154	M	0.64997	1.995	0.09310	N	1	P	0.43231	0.801	B	0.44108	0.441	T	0.32295	-0.9912	9	0.18276	T	0.48	.	6.9318	0.24445	0.7952:0.0:0.0:0.2048	.	252	P07476	INVO_HUMAN	L	252;106	ENSP00000357753:Q252L;ENSP00000376435:Q106L	ENSP00000357753:Q252L	Q	+	2	0	IVL	151149652	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-0.197000	0.09518	0.354000	0.24105	0.104000	0.15600	CAG	IVL	-	pfam_Involucrin_rpt	ENSG00000163207		0.667	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVL	HGNC	protein_coding	OTTHUMT00000034664.1	-	0.00	97	0	A	NM_005547		152883028	+1	tier1	-	no_errors	ENST00000368764	ensembl	human	known	74_37	missense	20.51	31	8	SNP	0.000	T
IRF6	3664	genome.wustl.edu	37	1	209963069	209963069	+	Nonsense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:209963069G>T	ENST00000367021.3	-	8	1294	c.1122C>A	c.(1120-1122)tgC>tgA	p.C374*	IRF6_ENST00000542854.1_Nonsense_Mutation_p.C279*|RP3-434O14.8_ENST00000430751.1_RNA	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	374			C -> W (in VWS1). {ECO:0000269|PubMed:12219090}.		cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CTTCCCCAAAGCATAAGTAGA	0.453										HNSCC(57;0.16)																																							0			GRCh37	CM022406	IRF6	M							159.0	134.0	142.0					1																	209963069		2203	4300	6503	SO:0001587	stop_gained	0			AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.1122C>A	1.37:g.209963069G>T	ENSP00000355988:p.Cys374*		B4DLE2|D3DT90|F5GWX8|G0ZTL0	Nonsense_Mutation	SNP	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.C374*	ENST00000367021.3	37	c.1122	CCDS1492.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.964809	0.97967	.	.	ENSG00000117595	ENST00000367021;ENST00000542854	.	.	.	6.06	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2369	0.59974	0.1314:0.0:0.8686:0.0	.	.	.	.	X	374;279	.	.	C	-	3	2	IRF6	208029692	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.494000	0.35616	1.571000	0.49722	0.655000	0.94253	TGC	IRF6	-	pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain	ENSG00000117595		0.453	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF6	HGNC	protein_coding	OTTHUMT00000088827.1		0.00	76	0	G	NM_006147		209963069	-1			no_errors	ENST00000367021	ensembl	human	known	74_37	nonsense	7.41	50	4	SNP	1.000	T
KALRN	8997	genome.wustl.edu	37	3	124165720	124165720	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr3:124165720G>T	ENST00000240874.3	+	21	3691	c.3534G>T	c.(3532-3534)agG>agT	p.R1178S	KALRN_ENST00000460856.1_Missense_Mutation_p.R1169S|KALRN_ENST00000360013.3_Missense_Mutation_p.R1178S	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1178					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGGAATTCAGGGTGCCTGCCA	0.493																																																	0													96.0	99.0	98.0					3																	124165720		2203	4300	6503	SO:0001583	missense	0			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.3534G>T	3.37:g.124165720G>T	ENSP00000240874:p.Arg1178Ser		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.R1178S	ENST00000240874.3	37	c.3534	CCDS3027.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.52|14.52	2.560214|2.560214	0.45590|0.45590	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000460856;ENST00000240874;ENST00000360013	.|T;T;T	.|0.41065	.|1.01;1.01;1.01	5.37|5.37	4.5|4.5	0.54988|0.54988	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.32010|0.32010	0.0815|0.0815	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.30727	.|0.263;0.263;0.292;0.222	.|B;B;B;B	.|0.36766	.|0.232;0.232;0.22;0.149	T|T	0.08722|0.08722	-1.0708|-1.0708	5|10	.|0.20046	.|T	.|0.44	.|.	8.6022|8.6022	0.33751|0.33751	0.2132:0.0:0.7868:0.0|0.2132:0.0:0.7868:0.0	.|.	.|1169;524;1178;1178	.|C9IZQ6;F2Z3Q6;O60229;O60229-2	.|.;.;KALRN_HUMAN;.	V|S	1147|1169;1178;1178	.|ENSP00000418611:R1169S;ENSP00000240874:R1178S;ENSP00000353109:R1178S	.|ENSP00000240874:R1178S	G|R	+|+	2|3	0|2	KALRN|KALRN	125648410|125648410	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	2.423000|2.423000	0.44705|0.44705	1.489000|1.489000	0.48450|0.48450	0.643000|0.643000	0.83706|0.83706	GGG|AGG	KALRN	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000160145		0.493	KALRN-005	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000258843.4	-	0.00	83	0	G	NM_003947		124165720	+1	tier1	-	no_errors	ENST00000360013	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T
KANK1	23189	genome.wustl.edu	37	9	710961	710961	+	Missense_Mutation	SNP	G	G	T	rs201438936	byFrequency	TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:710961G>T	ENST00000382303.1	+	7	847	c.195G>T	c.(193-195)aaG>aaT	p.K65N	KANK1_ENST00000382293.3_5'UTR|KANK1_ENST00000382297.2_Missense_Mutation_p.K65N|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	65	Nuclear localization signal 1 (NLS 1).				negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		ACATCCAGAAGAGGCGGAAGC	0.478																																																	0													102.0	88.0	93.0					9																	710961		2203	4300	6503	SO:0001583	missense	0			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.195G>T	9.37:g.710961G>T	ENSP00000371740:p.Lys65Asn		A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.K65N	ENST00000382303.1	37	c.195	CCDS34976.1	9	.	.	.	.	.	.	.	.	.	.	G	17.17	3.320282	0.60634	.	.	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297	T;T	0.40476	1.03;1.03	6.06	6.06	0.98353	Kank N-terminal motif (1);	0.000000	0.53938	D	0.000056	T	0.52208	0.1720	L	0.36672	1.1	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.976	T	0.51756	-0.8665	10	0.66056	D	0.02	0.3395	10.8679	0.46866	0.1389:0.0:0.8611:0.0	.	65;65	Q5W0W1;Q14678	.;KANK1_HUMAN	N	65	ENSP00000371740:K65N;ENSP00000371734:K65N	ENSP00000346479:K65N	K	+	3	2	KANK1	700961	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.548000	0.60718	2.882000	0.98803	0.655000	0.94253	AAG	KANK1	-	pfam_KN_motif	ENSG00000107104		0.478	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK1	HGNC	protein_coding	OTTHUMT00000051484.2	-	0.00	71	0	G	NM_015158		710961	+1	tier1	-	no_errors	ENST00000382297	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T
KANK2	25959	genome.wustl.edu	37	19	11287353	11287353	+	Missense_Mutation	SNP	G	G	A	rs111476305	byFrequency	TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:11287353G>A	ENST00000586659.1	-	7	1975	c.1661C>T	c.(1660-1662)gCg>gTg	p.A554V	KANK2_ENST00000355150.5_Missense_Mutation_p.A554V|KANK2_ENST00000589359.1_Missense_Mutation_p.A562V|KANK2_ENST00000589894.1_Missense_Mutation_p.A554V|KANK2_ENST00000432929.2_Missense_Mutation_p.A562V			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	554					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)		p.A554V(1)		endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGTCTTGGCCGCTGCCGTCCC	0.627													G|||	14	0.00279553	0.003	0.0	5008	,	,		16971	0.0099		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	urinary_tract(1)						G	VAL/ALA,VAL/ALA	7,4399	15.5+/-35.6	0,7,2196	92.0	90.0	90.0		1661,1685	-11.2	0.0	19	dbSNP_132	90	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	KANK2	NM_001136191.2,NM_015493.6	64,64	0,8,6495	AA,AG,GG		0.0116,0.1589,0.0615	benign,benign	554/852,562/860	11287353	8,12998	2203	4300	6503	SO:0001583	missense	0			AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.1661C>T	19.37:g.11287353G>A	ENSP00000465650:p.Ala554Val		B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A562V	ENST00000586659.1	37	c.1685	CCDS12255.1	19	11	0.005036630036630037	2	0.0040650406504065045	0	0.0	9	0.015734265734265736	0	0.0	G	7.825	0.718600	0.15372	0.001589	1.16E-4	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.40476	1.03;1.04	5.61	-11.2	0.00127	.	1.575930	0.03836	N	0.269907	T	0.07999	0.0200	N	0.02802	-0.49	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.06405	0.0;0.002	T	0.35574	-0.9783	10	0.30078	T	0.28	-1.1215	8.7739	0.34749	0.0879:0.3232:0.4516:0.1373	.	554;562	Q63ZY3;Q63ZY3-2	KANK2_HUMAN;.	V	562;554	ENSP00000395650:A562V;ENSP00000347276:A554V	ENSP00000347276:A554V	A	-	2	0	KANK2	11148353	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.211000	0.00141	-4.973000	0.00025	-1.327000	0.01280	GCG	KANK2	-	NULL	ENSG00000197256		0.627	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KANK2	HGNC	protein_coding	OTTHUMT00000453066.2		0.00	51	0	G	NM_015493		11287353	-1			no_errors	ENST00000432929	ensembl	human	known	74_37	missense	12.50	14	2	SNP	0.000	A
KCNQ2	3785	genome.wustl.edu	37	20	62070961	62070961	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr20:62070961G>A	ENST00000359125.2	-	6	1091	c.917C>T	c.(916-918)gCg>gTg	p.A306V	KCNQ2_ENST00000359689.1_Missense_Mutation_p.A306V|KCNQ2_ENST00000360480.3_Missense_Mutation_p.A306V|KCNQ2_ENST00000357249.2_Missense_Mutation_p.A306V|KCNQ2_ENST00000344462.4_Missense_Mutation_p.A306V|KCNQ2_ENST00000344425.5_Missense_Mutation_p.A306V|KCNQ2_ENST00000354587.3_Missense_Mutation_p.A306V|KCNQ2_ENST00000370224.1_Missense_Mutation_p.A306V	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	306			A -> T (in BFNS1; 20%-40% reduction of wt heteromeric current. Ratio of 1:1:2). {ECO:0000269|PubMed:14534157, ECO:0000269|PubMed:9425895}.		axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TGCAGGCAGCGCGAAGAAGGA	0.632																																																	0													160.0	122.0	135.0					20																	62070961		2203	4300	6503	SO:0001583	missense	0			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.917C>T	20.37:g.62070961G>A	ENSP00000352035:p.Ala306Val		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.A306V	ENST00000359125.2	37	c.917	CCDS13520.1	20	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544581	0.65198	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222;ENST00000370221;ENST00000344425	D;D;D;D;D;D;D;D;D;D;D;D	0.98862	-5.19;-5.19;-5.19;-5.19;-5.19;-5.19;-5.19;-5.19;-5.19;-5.19;-5.19;-5.19	4.01	4.01	0.46588	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99155	0.9708	M	0.87180	2.865	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.998;0.996;0.993;0.993;0.995	D;D;P;P;P;P	0.77557	0.99;0.946;0.754;0.754;0.81;0.841	D	0.99323	1.0907	10	0.87932	D	0	-19.7988	16.4798	0.84155	0.0:0.0:1.0:0.0	.	306;306;306;306;306;306	B4DEP4;Q53Y30;O43526-3;O43526-2;O43526-4;O43526	.;.;.;.;.;KCNQ2_HUMAN	V	306	ENSP00000349789:A306V;ENSP00000352035:A306V;ENSP00000359246:A306V;ENSP00000346601:A306V;ENSP00000352718:A306V;ENSP00000399612:A306V;ENSP00000353668:A306V;ENSP00000339611:A306V;ENSP00000359244:A306V;ENSP00000359242:A306V;ENSP00000359241:A306V;ENSP00000345523:A306V	ENSP00000345523:A306V	A	-	2	0	KCNQ2	61541405	1.000000	0.71417	0.995000	0.50966	0.011000	0.07611	9.547000	0.98100	1.908000	0.55244	0.561000	0.74099	GCG	KCNQ2	-	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl	ENSG00000075043		0.632	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	KCNQ2	HGNC	protein_coding	OTTHUMT00000080353.1	-	0.00	253	0	G	NM_172109		62070961	-1	tier1	-	no_errors	ENST00000354587	ensembl	human	known	74_37	missense	48.48	67	64	SNP	1.000	A
KCNQ5	56479	genome.wustl.edu	37	6	73787086	73787086	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr6:73787086A>G	ENST00000370398.1	+	4	767	c.658A>G	c.(658-660)Aaa>Gaa	p.K220E	KCNQ5_ENST00000342056.2_Missense_Mutation_p.K220E|KCNQ5_ENST00000403813.2_Missense_Mutation_p.K220E|KCNQ5_ENST00000402622.2_Missense_Mutation_p.K220E|KCNQ5_ENST00000355194.4_Missense_Mutation_p.K220E|KCNQ5_ENST00000355635.3_Missense_Mutation_p.K220E|KCNQ5_ENST00000414165.2_Missense_Mutation_p.K220E|KCNQ5_ENST00000370392.1_Missense_Mutation_p.K220E	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	220					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TGTTTCTGCAAAAACTCAGGG	0.448																																					GBM(142;1375 1859 14391 23261 44706)												0													100.0	94.0	96.0					6																	73787086		2203	4300	6503	SO:0001583	missense	0			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.658A>G	6.37:g.73787086A>G	ENSP00000359425:p.Lys220Glu		A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.K220E	ENST00000370398.1	37	c.658	CCDS4976.1	6	.	.	.	.	.	.	.	.	.	.	A	18.79	3.698293	0.68386	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D;D	0.98437	-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93	5.95	5.95	0.96441	Ion transport (1);	0.105305	0.64402	D	0.000003	D	0.91566	0.7336	N	0.03154	-0.405	0.37429	D	0.913955	P;P;B;B;P;B	0.41673	0.739;0.759;0.091;0.027;0.579;0.19	P;B;B;B;B;B	0.44811	0.461;0.429;0.385;0.171;0.425;0.159	D	0.92638	0.6122	10	0.35671	T	0.21	-14.9617	10.7084	0.45969	0.9292:0.0:0.0708:0.0	.	220;220;220;220;220;220	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	E	220	ENSP00000345055:K220E;ENSP00000347326:K220E;ENSP00000359425:K220E;ENSP00000359419:K220E;ENSP00000385501:K220E;ENSP00000347853:K220E;ENSP00000384453:K220E;ENSP00000409861:K220E	ENSP00000345055:K220E	K	+	1	0	KCNQ5	73843807	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.307000	0.78920	2.276000	0.75962	0.528000	0.53228	AAA	KCNQ5	-	pfam_Ion_trans_dom	ENSG00000185760		0.448	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	HGNC	protein_coding	OTTHUMT00000041198.3	-	0.00	72	0	A	NM_019842		73787086	+1	tier1	-	no_errors	ENST00000402622	ensembl	human	known	74_37	missense	25.00	39	13	SNP	1.000	G
KCNU1	157855	genome.wustl.edu	37	8	36692334	36692334	+	Missense_Mutation	SNP	G	G	C			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr8:36692334G>C	ENST00000399881.3	+	12	1280	c.1243G>C	c.(1243-1245)Gcc>Ccc	p.A415P		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	415	RCK N-terminal.				multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCTGATTATAGCCAATCCTTT	0.418																																																	0													126.0	123.0	124.0					8																	36692334		1887	4120	6007	SO:0001583	missense	0			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1243G>C	8.37:g.36692334G>C	ENSP00000382770:p.Ala415Pro			Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu	p.A415P	ENST00000399881.3	37	c.1243	CCDS55220.1	8	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306341	0.81247	.	.	ENSG00000215262	ENST00000399881	T	0.70749	-0.51	5.9	5.9	0.94986	Potassium channel, calcium-activated, BK, alpha subunit (1);NAD(P)-binding domain (1);	0.000000	0.37761	U	0.001956	D	0.83774	0.5327	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84395	0.0557	10	0.87932	D	0	-5.8033	18.8427	0.92190	0.0:0.0:1.0:0.0	.	415	A8MYU2	KCNU1_HUMAN	P	415	ENSP00000382770:A415P	ENSP00000382770:A415P	A	+	1	0	KCNU1	36811492	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	8.882000	0.92420	2.788000	0.95919	0.650000	0.86243	GCC	KCNU1	-	prints_K_chnl_Ca-activ_BK_asu	ENSG00000215262		0.418	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	KCNU1	HGNC	protein_coding	OTTHUMT00000376631.1	-	0.00	55	0	G	NM_001031836		36692334	+1	tier1	-	no_errors	ENST00000399881	ensembl	human	known	74_37	missense	22.41	45	13	SNP	1.000	C
KDM6A	7403	genome.wustl.edu	37	X	44920585	44920585	+	Nonsense_Mutation	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chrX:44920585G>A	ENST00000377967.4	+	14	1387	c.1346G>A	c.(1345-1347)tGg>tAg	p.W449*	KDM6A_ENST00000543216.1_Nonsense_Mutation_p.W404*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.W456*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.W404*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	449	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TCTGACAATTGGAGTGGTGGA	0.353			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)			Rec	yes		X	Xp11.2	7403	"""lysine (K)-specific demethylase 6A, UTX"""		"""E, L"""	8	Whole gene deletion(6)|No detectable mRNA/protein(2)	haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)											62.0	50.0	54.0					X																	44920585		2203	4300	6503	SO:0001587	stop_gained	0			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.1346G>A	X.37:g.44920585G>A	ENSP00000367203:p.Trp449*		Q52LL9|Q5JVQ7	Nonsense_Mutation	SNP	pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.W456*	ENST00000377967.4	37	c.1367	CCDS14265.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.939454|5.939454	0.97128|0.97128	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000451692|ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000535688	.|.	.|.	.|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.239988	.|0.45606	.|D	.|0.000345	T|.	0.47097|.	0.1427|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.40478|.	-0.9561|.	3|.	.|0.02654	.|T	.|1	-5.156|-5.156	18.9152|18.9152	0.92503|0.92503	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	R|X	113|146;449;404;456;404;42	.|.	.|ENSP00000334340:W146X	G|W	+|+	1|2	0|0	KDM6A|KDM6A	44805529|44805529	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	6.820000|6.820000	0.75267|0.75267	2.414000|2.414000	0.81942|0.81942	0.506000|0.506000	0.49869|0.49869	GGA|TGG	KDM6A	-	NULL	ENSG00000147050		0.353	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	-	0.00	29	0	G	NM_021140		44920585	+1	tier1	-	no_errors	ENST00000382899	ensembl	human	known	74_37	nonsense	57.14	21	28	SNP	1.000	A
KIAA0100	9703	genome.wustl.edu	37	17	26961608	26961608	+	Silent	SNP	A	A	G			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr17:26961608A>G	ENST00000528896.2	-	16	3071	c.2997T>C	c.(2995-2997)ccT>ccC	p.P999P	KIAA0100_ENST00000544884.1_Silent_p.P856P|KIAA0100_ENST00000389003.3_Silent_p.P856P|RP11-192H23.7_ENST00000577814.1_RNA|RP11-192H23.7_ENST00000583787.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	999						extracellular region (GO:0005576)		p.P999P(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CAGGGGGAAAAGGGCTGCCTG	0.493																																																	1	Substitution - coding silent(1)	prostate(1)											110.0	106.0	107.0					17																	26961608		2203	4300	6503	SO:0001819	synonymous_variant	0			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.2997T>C	17.37:g.26961608A>G			A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom	p.P999	ENST00000528896.2	37	c.2997	CCDS32595.1	17																																																																																			KIAA0100	-	NULL	ENSG00000007202		0.493	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0100	HGNC	protein_coding	OTTHUMT00000390571.3	-	0.00	91	0	A	NM_014680		26961608	-1	tier1	-	no_errors	ENST00000528896	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.973	G
KIAA0319L	79932	genome.wustl.edu	37	1	35915580	35915580	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:35915580G>T	ENST00000325722.3	-	15	2475	c.2241C>A	c.(2239-2241)caC>caA	p.H747Q	KIAA0319L_ENST00000373266.4_Missense_Mutation_p.H184Q|KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	747	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAAGGATAGGGTGATGGTCAG	0.463																																																	0													142.0	128.0	133.0					1																	35915580		2203	4300	6503	SO:0001583	missense	0			AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.2241C>A	1.37:g.35915580G>T	ENSP00000318406:p.His747Gln		B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom	p.H747Q	ENST00000325722.3	37	c.2241	CCDS390.1	1	.	.	.	.	.	.	.	.	.	.	G	7.872	0.728428	0.15507	.	.	ENSG00000142687	ENST00000325722;ENST00000373266;ENST00000426982	T;T;T	0.68181	2.63;-0.31;2.63	5.82	2.58	0.30949	PKD/Chitinase domain (1);Fibronectin, type III (1);PKD/REJ-like protein (1);PKD domain (2);	0.087875	0.85682	D	0.000000	T	0.21761	0.0524	N	0.00337	-1.62	0.80722	D	1	P;B;B	0.37731	0.607;0.006;0.131	B;B;B	0.30782	0.12;0.021;0.033	T	0.05022	-1.0911	10	0.15066	T	0.55	-3.3515	5.8745	0.18822	0.2464:0.0:0.6205:0.1331	.	747;747;189	Q8IZA0-2;Q8IZA0;Q8IZA0-3	.;K319L_HUMAN;.	Q	747;184;747	ENSP00000318406:H747Q;ENSP00000362363:H184Q;ENSP00000395883:H747Q	ENSP00000318406:H747Q	H	-	3	2	KIAA0319L	35688167	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	1.990000	0.40717	0.689000	0.31550	-0.136000	0.14681	CAC	KIAA0319L	-	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom	ENSG00000142687		0.463	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319L	HGNC	protein_coding	OTTHUMT00000012684.2	-	0.00	80	0	G	NM_024874		35915580	-1	tier1	-	no_errors	ENST00000325722	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T
NWD2	57495	genome.wustl.edu	37	4	37447165	37447165	+	Silent	SNP	C	C	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr4:37447165C>T	ENST00000309447.5	+	7	4403	c.3555C>T	c.(3553-3555)tgC>tgT	p.C1185C		NM_001144990.1	NP_001138462.1	Q9ULI1	NWD2_HUMAN		1185										breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(2)|skin(2)	16						ACTTTGATTGCCGAAGAGAAG	0.468																																																	0													35.0	30.0	31.0					4																	37447165		692	1591	2283	SO:0001819	synonymous_variant	0																														ENST00000309447.5:c.3555C>T	4.37:g.37447165C>T			A8MRU1	Silent	SNP	superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.C1185	ENST00000309447.5	37	c.3555	CCDS47040.1	4																																																																																			KIAA1239	-	superfamily_WD40_repeat_dom	ENSG00000174145		0.468	KIAA1239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1239	HGNC	protein_coding	OTTHUMT00000347551.2	-	0.00	101	0	C			37447165	+1	tier1	-	no_errors	ENST00000309447	ensembl	human	known	74_37	silent	6.78	55	4	SNP	1.000	T
CFAP97	57587	genome.wustl.edu	37	4	186084009	186084009	+	Silent	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr4:186084009G>T	ENST00000458385.2	-	5	1661	c.1542C>A	c.(1540-1542)tcC>tcA	p.S514S		NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		514										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		GGTGGCCACTGGAGGGGTCAA	0.433																																																	0													49.0	54.0	52.0					4																	186084009		1933	4134	6067	SO:0001819	synonymous_variant	0																														ENST00000458385.2:c.1542C>A	4.37:g.186084009G>T			B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Silent	SNP	NULL	p.S514	ENST00000458385.2	37	c.1542	CCDS47168.1	4																																																																																			KIAA1430	-	NULL	ENSG00000164323		0.433	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	KIAA1430	HGNC	protein_coding	OTTHUMT00000360717.2	-	0.00	116	0	G			186084009	-1	tier1	-	no_errors	ENST00000458385	ensembl	human	novel	74_37	silent	7.55	49	4	SNP	0.012	T
KIAA1549	57670	genome.wustl.edu	37	7	138554434	138554434	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr7:138554434C>T	ENST00000422774.1	-	14	4673	c.4625G>A	c.(4624-4626)cGc>cAc	p.R1542H	KIAA1549_ENST00000242365.4_Missense_Mutation_p.R1492H|KIAA1549_ENST00000440172.1_Missense_Mutation_p.R1542H			Q9HCM3	K1549_HUMAN	KIAA1549	1542						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GTAGTGCCCGCGGCGCTTGGC	0.617			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)			Dom	yes		7	7q34	57670	KIAA1549		O	0													37.0	46.0	43.0					7																	138554434		2040	4193	6233	SO:0001583	missense	0				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.4625G>A	7.37:g.138554434C>T	ENSP00000416040:p.Arg1542His		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	NULL	p.R1542H	ENST00000422774.1	37	c.4625	CCDS56513.1	7	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364737	0.82463	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.28666	1.6;1.61;1.61	5.23	5.23	0.72850	.	0.049447	0.85682	D	0.000000	T	0.42359	0.1199	L	0.40543	1.245	0.35438	D	0.794645	D;D;D;D	0.89917	1.0;0.997;1.0;0.997	D;P;D;P	0.77004	0.989;0.823;0.982;0.823	T	0.54853	-0.8231	10	0.87932	D	0	.	7.6424	0.28300	0.0:0.8199:0.0:0.1801	.	1542;326;1542;326	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	H	1542;1492;1542	ENSP00000406661:R1542H;ENSP00000242365:R1492H;ENSP00000416040:R1542H	ENSP00000242365:R1492H	R	-	2	0	KIAA1549	138204974	1.000000	0.71417	0.989000	0.46669	0.588000	0.36517	5.802000	0.69122	2.431000	0.82371	0.655000	0.94253	CGC	KIAA1549	-	NULL	ENSG00000122778		0.617	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1549	HGNC	protein_coding	OTTHUMT00000348092.1	-	0.00	53	0	C			138554434	-1	tier1	-	no_errors	ENST00000422774	ensembl	human	known	74_37	missense	34.29	23	12	SNP	0.996	T
KIAA2018	205717	genome.wustl.edu	37	3	113374665	113374665	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr3:113374665G>T	ENST00000478658.1	-	5	5881	c.5864C>A	c.(5863-5865)tCt>tAt	p.S1955Y	KIAA2018_ENST00000316407.4_Missense_Mutation_p.S1955Y|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1955						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.S1955Y(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						ATGAGACACAGATGGATGTGG	0.537																																																	1	Substitution - Missense(1)	kidney(1)											94.0	91.0	92.0					3																	113374665		2146	4252	6398	SO:0001583	missense	0			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.5864C>A	3.37:g.113374665G>T	ENSP00000420721:p.Ser1955Tyr		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.S1955Y	ENST00000478658.1	37	c.5864	CCDS43133.1	3	.	.	.	.	.	.	.	.	.	.	g	15.30	2.793730	0.50102	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.16743	2.32;2.32	5.56	5.56	0.83823	.	0.354630	0.29529	N	0.011895	T	0.20007	0.0481	N	0.24115	0.695	0.49213	D	0.999766	D	0.56521	0.976	P	0.47744	0.556	T	0.00888	-1.1526	10	0.62326	D	0.03	-4.7613	19.8795	0.96891	0.0:0.0:1.0:0.0	.	1955	Q68DE3	K2018_HUMAN	Y	1955	ENSP00000320794:S1955Y;ENSP00000420721:S1955Y	ENSP00000320794:S1955Y	S	-	2	0	KIAA2018	114857355	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.150000	0.77403	2.775000	0.95449	0.558000	0.71614	TCT	KIAA2018	-	NULL	ENSG00000176542		0.537	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1		0.00	67	0	G	NM_001009899		113374665	-1			no_errors	ENST00000316407	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.989	T
KIAA2018	205717	genome.wustl.edu	37	3	113376052	113376052	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr3:113376052G>T	ENST00000478658.1	-	5	4494	c.4477C>A	c.(4477-4479)Cat>Aat	p.H1493N	KIAA2018_ENST00000316407.4_Missense_Mutation_p.H1493N|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1493	Gln-rich.					membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGTACATGATGCTGCATTTGA	0.493																																																	0													164.0	171.0	169.0					3																	113376052		2179	4279	6458	SO:0001583	missense	0			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4477C>A	3.37:g.113376052G>T	ENSP00000420721:p.His1493Asn		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.H1493N	ENST00000478658.1	37	c.4477	CCDS43133.1	3	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405443	0.62288	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.32272	1.46;1.46	5.89	5.89	0.94794	.	0.104565	0.64402	D	0.000004	T	0.27832	0.0685	L	0.34521	1.04	0.52501	D	0.999959	B	0.32245	0.361	B	0.29440	0.102	T	0.02064	-1.1220	10	0.35671	T	0.21	-5.9585	20.2566	0.98424	0.0:0.0:1.0:0.0	.	1493	Q68DE3	K2018_HUMAN	N	1493	ENSP00000320794:H1493N;ENSP00000420721:H1493N	ENSP00000320794:H1493N	H	-	1	0	KIAA2018	114858742	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.325000	0.96381	2.793000	0.96121	0.561000	0.74099	CAT	KIAA2018	-	NULL	ENSG00000176542		0.493	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1		0.00	59	0	G	NM_001009899		113376052	-1			no_errors	ENST00000316407	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	T
KIDINS220	57498	genome.wustl.edu	37	2	8890423	8890423	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:8890423G>A	ENST00000256707.3	-	24	3414	c.3233C>T	c.(3232-3234)gCg>gTg	p.A1078V	KIDINS220_ENST00000418530.1_Missense_Mutation_p.A1036V|KIDINS220_ENST00000427284.1_Missense_Mutation_p.A1078V|KIDINS220_ENST00000473731.1_Missense_Mutation_p.A1078V	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1078					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CGGGGGGTACGCCAGTCCTCC	0.557																																																	0													39.0	43.0	41.0					2																	8890423		1952	4132	6084	SO:0001583	missense	0			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.3233C>T	2.37:g.8890423G>A	ENSP00000256707:p.Ala1078Val		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A1078V	ENST00000256707.3	37	c.3233	CCDS42650.1	2	.	.	.	.	.	.	.	.	.	.	G	9.683	1.149847	0.21371	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000459813	T;T;T;T;T;T	0.67171	0.84;-0.25;-0.21;-0.17;-0.21;-0.22	5.79	4.83	0.62350	.	0.218347	0.47852	D	0.000203	T	0.48519	0.1504	N	0.08118	0	0.23693	N	0.997095	B;B;B;B;B	0.29270	0.217;0.155;0.2;0.24;0.089	B;B;B;B;B	0.29440	0.026;0.03;0.047;0.102;0.047	T	0.40924	-0.9537	10	0.32370	T	0.25	.	17.5816	0.87970	0.0:0.0:0.8682:0.1318	.	1079;1079;762;1036;1078	B4DK94;E9PH70;B4DGY1;Q9ULH0-2;Q9ULH0	.;.;.;.;KDIS_HUMAN	V	825;762;1078;1078;1036;1078;1079;87	ENSP00000420364:A825V;ENSP00000256707:A1078V;ENSP00000411849:A1078V;ENSP00000414923:A1036V;ENSP00000418974:A1078V;ENSP00000419964:A1079V	ENSP00000256707:A1078V	A	-	2	0	KIDINS220	8807874	1.000000	0.71417	0.157000	0.22605	0.042000	0.13812	4.126000	0.57937	2.733000	0.93635	0.655000	0.94253	GCG	KIDINS220	-	NULL	ENSG00000134313		0.557	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	-	0.00	41	0	G	NM_020738		8890423	-1	tier1	-	no_errors	ENST00000256707	ensembl	human	known	74_37	missense	33.33	24	12	SNP	0.286	A
KIF21B	23046	genome.wustl.edu	37	1	200959451	200959451	+	Nonsense_Mutation	SNP	C	C	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:200959451C>A	ENST00000422435.2	-	20	3161	c.2845G>T	c.(2845-2847)Gag>Tag	p.E949*	KIF21B_ENST00000360529.5_Nonsense_Mutation_p.E949*|KIF21B_ENST00000332129.2_Nonsense_Mutation_p.E949*|KIF21B_ENST00000461742.2_Nonsense_Mutation_p.E949*	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	949					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AGGAACAGCTCCTCCCTTTTC	0.637																																																	0													20.0	20.0	20.0					1																	200959451		2203	4300	6503	SO:0001587	stop_gained	0			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.2845G>T	1.37:g.200959451C>A	ENSP00000411831:p.Glu949*		B2RP62|B7ZMI0|Q5T4J3	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.E949*	ENST00000422435.2	37	c.2845	CCDS58056.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.529882	0.97641	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	18.7361	0.91755	0.0:1.0:0.0:0.0	.	.	.	.	X	949	.	ENSP00000328494:E949X	E	-	1	0	KIF21B	199226074	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.966000	0.70395	2.423000	0.82170	0.655000	0.94253	GAG	KIF21B	-	NULL	ENSG00000116852		0.637	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF21B	HGNC	protein_coding	OTTHUMT00000382635.1	-	0.00	40	0	C	XM_371332		200959451	-1	tier1	-	no_errors	ENST00000422435	ensembl	human	known	74_37	nonsense	23.08	10	3	SNP	1.000	A
KIF3C	3797	genome.wustl.edu	37	2	26152860	26152860	+	Silent	SNP	C	C	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:26152860C>A	ENST00000264712.3	-	6	2658	c.2079G>T	c.(2077-2079)cgG>cgT	p.R693R	KIF3C_ENST00000405914.1_Silent_p.R693R|KIF3C_ENST00000496378.1_5'UTR	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	693	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATGGCAACCCGAGCATACT	0.577																																																	0													131.0	127.0	128.0					2																	26152860		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.2079G>T	2.37:g.26152860C>A			O43544|Q4ZG18|Q53SX5|Q562F7	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R693	ENST00000264712.3	37	c.2079	CCDS1719.1	2																																																																																			KIF3C	-	NULL	ENSG00000084731		0.577	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3C	HGNC	protein_coding	OTTHUMT00000211611.1	-	0.00	118	0	C			26152860	-1	tier1	-	no_errors	ENST00000264712	ensembl	human	known	74_37	silent	28.57	40	16	SNP	1.000	A
KIN	22944	genome.wustl.edu	37	10	7817764	7817765	+	Splice_Site	INS	-	-	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:7817764_7817765insA	ENST00000379562.4	-	6	606		c.e6-2		KIN_ENST00000535925.1_Splice_Site|KIN_ENST00000543003.1_Splice_Site	NM_012311.3	NP_036443.1			Kin17 DNA and RNA binding protein											endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AGGGACCTCCTAAAAAAAAGAA	0.317																																																	0																																										SO:0001630	splice_region_variant	0			AJ005273	CCDS7080.1	10p15-p14	2014-07-15	2014-07-15		ENSG00000151657	ENSG00000151657			6327	protein-coding gene	gene with protein product		601720	"""antigenic determinant of recA protein (mouse) homolog"", ""KIN, antigenic determinant of recA protein homolog (mouse)"""			1923796, 24140279	Standard	NM_012311		Approved	KIN17, Rts2	uc001ijt.3	O60870	OTTHUMG00000017634	ENST00000379562.4:c.559-2->T	10.37:g.7817772_7817772dupA				Splice_Site	INS	-	e6-2	ENST00000379562.4	37	c.559-3_559-2	CCDS7080.1	10																																																																																			KIN	-	-	ENSG00000151657		0.317	KIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIN	HGNC	protein_coding	OTTHUMT00000046683.2		0.00	39	0	-	NM_012311	Intron	7817765	-1	tier1		no_errors	ENST00000379562	ensembl	human	known	74_37	splice_site_ins	6.90	54	4	INS	0.999:0.029	A
KLHL29	114818	genome.wustl.edu	37	2	23916217	23916217	+	Missense_Mutation	SNP	T	T	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:23916217T>A	ENST00000486442.1	+	8	2078	c.1361T>A	c.(1360-1362)aTg>aAg	p.M454K		NM_052920.1	NP_443152.1	Q96CT2	KLH29_HUMAN	kelch-like family member 29	454										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|lung(1)|ovary(3)	10						CTCTACCACATGGCCAAGGCC	0.652																																																	0													42.0	43.0	43.0					2																	23916217		692	1591	2283	SO:0001583	missense	0				CCDS54335.1	2p23.3	2013-09-27	2013-02-22	2007-01-09	ENSG00000119771	ENSG00000119771		"""Kelch-like"", ""BTB/POZ domain containing"""	29404	protein-coding gene	gene with protein product			"""kelch repeat and BTB (POZ) domain containing 9"", ""kelch-like 29 (Drosophila)"""	KBTBD9		11572484	Standard	NM_052920		Approved	KIAA1921	uc010ykg.2	Q96CT2	OTTHUMG00000151899	ENST00000486442.1:c.1361T>A	2.37:g.23916217T>A	ENSP00000420659:p.Met454Lys		Q8N388|Q96BF0|Q96PW7	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.M454K	ENST00000486442.1	37	c.1361	CCDS54335.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.274|7.274	0.607731|0.607731	0.14002|0.14002	.|.	.|.	ENSG00000119771|ENSG00000119771	ENST00000486442|ENST00000288548	T|.	0.66815|.	-0.23|.	5.35|5.35	5.35|5.35	0.76521|0.76521	BTB/Kelch-associated (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.39332|0.39332	0.1074|0.1074	N|N	0.05592|0.05592	-0.015|-0.015	0.80722|0.80722	D|D	1|1	B;B|.	0.26258|.	0.145;0.012|.	B;B|.	0.33042|.	0.157;0.012|.	T|T	0.32745|0.32745	-0.9895|-0.9895	10|5	0.24483|.	T|.	0.36|.	.|.	15.6618|15.6618	0.77193|0.77193	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	234;234|.	Q96CT2;Q96CT2-2|.	KLH29_HUMAN;.|.	K|R	454|294	ENSP00000420659:M454K|.	ENSP00000420659:M454K|.	M|W	+|+	2|1	0|0	KLHL29|KLHL29	23769722|23769722	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.064000|5.064000	0.64338|0.64338	2.163000|2.163000	0.67991|0.67991	0.460000|0.460000	0.39030|0.39030	ATG|TGG	KLHL29	-	pfam_BACK,smart_BACK	ENSG00000119771		0.652	KLHL29-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	KLHL29	HGNC	protein_coding	OTTHUMT00000324315.3	-	0.00	83	0	T	NM_052920		23916217	+1	tier1	-	no_errors	ENST00000486442	ensembl	human	known	74_37	missense	30.43	16	7	SNP	1.000	A
KLK4	9622	genome.wustl.edu	37	19	51411835	51411835	+	Splice_Site	SNP	C	C	T	rs267605602		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:51411835C>T	ENST00000324041.1	-	3	474	c.475G>A	c.(475-477)Ggc>Agc	p.G159S	KLK4_ENST00000431178.2_Splice_Site_p.G110R|KLK4_ENST00000597441.1_5'Flank	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	159	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		G -> D (in dbSNP:rs34626614).		amelogenesis (GO:0097186)|extracellular matrix disassembly (GO:0022617)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GTGAGCTCACCGTTCGCCAGC	0.637																																																	0													92.0	76.0	81.0					19																	51411835		2203	4300	6503	SO:0001630	splice_region_variant	0			AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6365	protein-coding gene	gene with protein product		603767	"""kallikrein 4 (prostase, enamel matrix, prostate)"""	PRSS17		10077646, 10438493, 16800724, 10863090, 9465170	Standard	XM_005259441		Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.475+1G>A	19.37:g.51411835C>T			Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.G159S	ENST00000324041.1	37	c.475	CCDS12809.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	10.33|10.33	1.319411|1.319411	0.23994|0.23994	.|.	.|.	ENSG00000167749|ENSG00000167749	ENST00000431178|ENST00000324041	D|D	0.93763|0.88354	-3.28|-2.37	3.43|3.43	1.25|1.25	0.21368|0.21368	.|Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000|0.000000	0.39083|0.39083	N|N	0.001469|0.001469	T|T	0.75627|0.75627	0.3875|0.3875	L|L	0.28504|0.28504	0.86|0.86	0.18873|0.18873	N|N	0.999988|0.999988	.|P;P	.|0.48589	.|0.912;0.875	.|B;B	.|0.36567	.|0.228;0.107	T|T	0.67929|0.67929	-0.5543|-0.5543	7|9	.|.	.|.	.|.	.|.	4.7095|4.7095	0.12865|0.12865	0.0:0.6502:0.225:0.1248|0.0:0.6502:0.225:0.1248	.|.	.|110;159	.|Q96JD7;Q9Y5K2	.|.;KLK4_HUMAN	R|S	110|159	ENSP00000399448:G110R|ENSP00000326159:G159S	.|.	G|G	-|-	1|1	0|0	KLK4|KLK4	56103647|56103647	0.062000|0.062000	0.20869|0.20869	0.202000|0.202000	0.23494|0.23494	0.005000|0.005000	0.04900|0.04900	0.795000|0.795000	0.26972|0.26972	0.439000|0.439000	0.26476|0.26476	-0.305000|-0.305000	0.09177|0.09177	GGG|GGC	KLK4	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000167749		0.637	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK4	HGNC	protein_coding	OTTHUMT00000464449.1	-	0.00	71	0	C	NM_004917	Missense_Mutation	51411835	-1	tier1	-	no_errors	ENST00000324041	ensembl	human	known	74_37	missense	45.83	13	11	SNP	0.225	T
KMT2A	4297	genome.wustl.edu	37	11	118347598	118347598	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr11:118347598C>A	ENST00000389506.5	+	4	3235	c.3235C>A	c.(3235-3237)Ctt>Att	p.L1079I	KMT2A_ENST00000534358.1_Missense_Mutation_p.L1079I|KMT2A_ENST00000354520.4_Missense_Mutation_p.L1079I			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1079					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										AGCTGTTGCCCTTGGCCGAAA	0.493																																																	0													146.0	136.0	139.0					11																	118347598		2200	4296	6496	SO:0001583	missense	0			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.3235C>A	11.37:g.118347598C>A	ENSP00000374157:p.Leu1079Ile		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.L1079I	ENST00000389506.5	37	c.3235	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	C	19.64	3.864860	0.71949	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520;ENST00000533790;ENST00000389507	D;T;D;D	0.95205	-3.57;0.38;-3.56;-3.64	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000001	D	0.96470	0.8848	M	0.68593	2.085	0.58432	D	0.999995	D;D	0.69078	0.982;0.997	D;D	0.78314	0.952;0.991	D	0.96239	0.9174	10	0.66056	D	0.02	.	13.3657	0.60682	0.0:0.9285:0.0:0.0715	.	1079;1079	E9PQG7;Q03164	.;MLL1_HUMAN	I	1079;1112;1079;1079;157;99	ENSP00000436786:L1079I;ENSP00000432391:L1112I;ENSP00000374157:L1079I;ENSP00000346516:L1079I	ENSP00000346516:L1079I	L	+	1	0	MLL	117852808	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.702000	0.54800	2.771000	0.95319	0.655000	0.94253	CTT	KMT2A	-	pirsf_MeTrfase_trithorax	ENSG00000118058		0.493	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2A	HGNC	protein_coding	OTTHUMT00000399085.2	-	0.00	122	0	C	NM_005933		118347598	+1	tier1	-	no_errors	ENST00000389506	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	A
KMT2A	4297	genome.wustl.edu	37	11	118362639	118362639	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr11:118362639G>T	ENST00000389506.5	+	15	4991	c.4991G>T	c.(4990-4992)cGg>cTg	p.R1664L	KMT2A_ENST00000534358.1_Missense_Mutation_p.R1667L|KMT2A_ENST00000354520.4_Missense_Mutation_p.R1626L			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1664					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CTACGCTACCGGCAGGTAGGC	0.423																																																	0													30.0	30.0	30.0					11																	118362639		2200	4296	6496	SO:0001583	missense	0			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.4991G>T	11.37:g.118362639G>T	ENSP00000374157:p.Arg1664Leu		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.R1664L	ENST00000389506.5	37	c.4991	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	G	18.35	3.603763	0.66445	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.82803	-1.65;-1.65;-1.59	5.75	5.75	0.90469	Bromodomain (1);	0.117279	0.56097	D	0.000026	D	0.87148	0.6105	L	0.36672	1.1	0.53688	D	0.999973	D;D	0.65815	0.994;0.995	P;P	0.62885	0.908;0.891	D	0.87228	0.2258	10	0.56958	D	0.05	.	19.9564	0.97221	0.0:0.0:1.0:0.0	.	1667;1664	E9PQG7;Q03164	.;MLL1_HUMAN	L	1667;1664;1626;574	ENSP00000436786:R1667L;ENSP00000374157:R1664L;ENSP00000346516:R1626L	ENSP00000346516:R1626L	R	+	2	0	MLL	117867849	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.327000	0.65881	2.708000	0.92522	0.650000	0.86243	CGG	KMT2A	-	smart_Bromodomain,pirsf_MeTrfase_trithorax	ENSG00000118058		0.423	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2A	HGNC	protein_coding	OTTHUMT00000399085.2	-	0.00	51	0	G	NM_005933		118362639	+1	tier1	-	no_errors	ENST00000389506	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T
ATG4D	84971	genome.wustl.edu	37	19	10664803	10664803	+	IGR	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:10664803G>T	ENST00000309469.4	+	0	1949				KRI1_ENST00000361821.5_Missense_Mutation_p.P648T|KRI1_ENST00000312962.6_Missense_Mutation_p.P652T|MIR1238_ENST00000408483.1_RNA	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase						apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CGCTTCTGGGGGGCTGGCTTC	0.642																																																	0													56.0	63.0	61.0					19																	10664803		2201	4300	6501	SO:0001628	intergenic_variant	0			AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582		19.37:g.10664803G>T			Q969K0	Missense_Mutation	SNP	pfam_KRR1-interact_protein_1	p.P652T	ENST00000309469.4	37	c.1954	CCDS12241.1	19	.	.	.	.	.	.	.	.	.	.	G	9.351	1.065491	0.20067	.	.	ENSG00000129347	ENST00000312962;ENST00000361821	T;T	0.08193	3.3;3.12	4.18	-0.914	0.10497	.	0.949068	0.08798	N	0.892172	T	0.08088	0.0202	L	0.56769	1.78	0.09310	N	1	B;B	0.28713	0.1;0.22	B;B	0.28139	0.054;0.086	T	0.40478	-0.9561	10	0.29301	T	0.29	-7.2031	3.4791	0.07595	0.0816:0.2616:0.3894:0.2674	.	652;648	Q8N9T8;D3YTE0	KRI1_HUMAN;.	T	652;648	ENSP00000320917:P652T;ENSP00000355366:P648T	ENSP00000320917:P652T	P	-	1	0	KRI1	10525803	0.519000	0.26242	0.004000	0.12327	0.010000	0.07245	1.650000	0.37292	-0.111000	0.12001	-0.181000	0.13052	CCC	KRI1	-	NULL	ENSG00000129347		0.642	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRI1	HGNC	protein_coding	OTTHUMT00000452022.1		0.00	150	0	G	NM_032885		10664803	-1			no_errors	ENST00000312962	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.022	T
LCTL	197021	genome.wustl.edu	37	15	66850360	66850360	+	Silent	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr15:66850360G>T	ENST00000341509.5	-	7	851	c.720C>A	c.(718-720)gcC>gcA	p.A240A	LCTL_ENST00000537670.1_Silent_p.A67A	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	240			A -> T (in dbSNP:rs1030986).		carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AAGAATGCCAGGCTTTGGCGT	0.547																																																	0													128.0	114.0	119.0					15																	66850360		2201	4299	6500	SO:0001819	synonymous_variant	0			AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"""klotho gamma"", ""KL lactase phlorizin hydrolase"""					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.720C>A	15.37:g.66850360G>T			B3KQY0	Silent	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.A240	ENST00000341509.5	37	c.720	CCDS10220.1	15																																																																																			LCTL	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF	ENSG00000188501		0.547	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCTL	HGNC	protein_coding	OTTHUMT00000256921.2		0.00	154	0	G	NM_207338		66850360	-1			no_errors	ENST00000341509	ensembl	human	known	74_37	silent	5.00	76	4	SNP	0.998	T
LHX9	56956	genome.wustl.edu	37	1	197890745	197890745	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:197890745G>A	ENST00000367387.4	+	3	1114	c.689G>A	c.(688-690)cGg>cAg	p.R230Q	LHX9_ENST00000561173.1_Missense_Mutation_p.R236Q|LHX9_ENST00000337020.2_Missense_Mutation_p.R230Q|LHX9_ENST00000367390.3_Missense_Mutation_p.R221Q|LHX9_ENST00000367391.1_Missense_Mutation_p.R221Q	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	230					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						CCCCGGAAGCGGAAGAGCCCA	0.657																																																	0													25.0	22.0	23.0					1																	197890745		2200	4297	6497	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.689G>A	1.37:g.197890745G>A	ENSP00000356357:p.Arg230Gln		Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.R230Q	ENST00000367387.4	37	c.689	CCDS1393.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.814646	0.96982	.	.	ENSG00000143355	ENST00000367391;ENST00000367390;ENST00000337020;ENST00000367387	T;D;T;D	0.89810	0.3;-2.55;0.22;-2.57	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.92430	0.7597	M	0.79926	2.475	0.80722	D	1	D;D;D	0.63046	0.992;0.964;0.99	P;P;P	0.49922	0.573;0.626;0.593	D	0.92438	0.5959	10	0.54805	T	0.06	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	230;221;221	Q9NQ69;Q9NQ69-3;Q9NQ69-2	LHX9_HUMAN;.;.	Q	221;221;230;230	ENSP00000356361:R221Q;ENSP00000356360:R221Q;ENSP00000337969:R230Q;ENSP00000356357:R230Q	ENSP00000337969:R230Q	R	+	2	0	LHX9	196157368	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.257000	0.95545	2.941000	0.99782	0.655000	0.94253	CGG	LHX9	-	NULL	ENSG00000143355		0.657	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LHX9	HGNC	protein_coding	OTTHUMT00000086547.2	-	0.00	114	0	G	NM_020204		197890745	+1	tier1	-	no_errors	ENST00000367387	ensembl	human	known	74_37	missense	53.85	12	14	SNP	1.000	A
LINC00052	145978	genome.wustl.edu	37	15	88121520	88121521	+	lincRNA	DEL	TC	TC	-	rs558084890|rs367939444|rs142830514	byFrequency	TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	TC	TC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr15:88121520_88121521delTC	ENST00000560153.1	+	0	389_390				RP11-648K4.2_ENST00000560439.1_lincRNA	NR_026869.1		Q96N35	TMM83_HUMAN	long intergenic non-protein coding RNA 52							integral component of membrane (GO:0016021)											tctgtttatgtctctctctctc	0.431																																																	0																																												0			AK056023		15q25.3	2012-10-12	2011-08-10	2011-08-10		ENSG00000259527		"""Long non-coding RNAs"""	26455	non-coding RNA	RNA, long non-coding			"""transmembrane protein 83"", ""non-protein coding RNA 52"""	TMEM83, NCRNA00052			Standard	NR_026869		Approved	FLJ31461	uc002bmc.1	Q96N35			15.37:g.88121530_88121531delTC				RNA	DEL	-	NULL	ENST00000560153.1	37	NULL		15																																																																																			LINC00052	-	-	ENSG00000259527		0.431	LINC00052-002	KNOWN	basic	lincRNA	LINC00052	HGNC	lincRNA	OTTHUMT00000416151.1		0.00	35	0	TC	XR_017978		88121521	+1	tier1		no_errors	ENST00000560153	ensembl	human	known	74_37	rna	16.67	10	2	DEL	0.018:0.021	-
LINC00661	126536	genome.wustl.edu	37	19	16136437	16136437	+	RNA	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:16136437G>T	ENST00000549354.2	+	0	1507					NR_026828.1				long intergenic non-protein coding RNA 661																		TAATAACCAAGAGGCAAGTCC	0.632											OREG0025325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																												0			AI184190, CR749400		19p13.12	2012-10-12			ENSG00000205396	ENSG00000205396		"""Long non-coding RNAs"""	27002	non-coding RNA	RNA, long non-coding						12477932	Standard	NR_026828		Approved		uc002nbw.2		OTTHUMG00000169715		19.37:g.16136437G>T		708		RNA	SNP	-	NULL	ENST00000549354.2	37	NULL		19																																																																																			LINC00661	-	-	ENSG00000205396		0.632	LINC00661-001	KNOWN	basic	lincRNA	LINC00661	HGNC	processed_transcript	OTTHUMT00000405577.4		0.00	141	0	G	NR_026828		16136437	+1			no_errors	ENST00000549354	ensembl	human	known	74_37	rna	5.63	67	4	SNP	0.014	T
NGFR	4804	genome.wustl.edu	37	17	47583543	47583543	+	Intron	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr17:47583543G>A	ENST00000172229.3	+	3	333				RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Intron	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor						apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GAGCCGATGAGAAGGCTGAAG	0.617																																																	0																																										SO:0001627	intron_variant	0			M14764	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	7809	protein-coding gene	gene with protein product	"""low affinity nerve growth factor receptor"", ""TNFR superfamily, member 16"""	162010	"""nerve growth factor receptor (TNFR superfamily, member 16)"""			3022937, 3006050	Standard	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	P08138	OTTHUMG00000161495	ENST00000172229.3:c.209-118G>A	17.37:g.47583543G>A			B2R961|B4E096	RNA	SNP	-	NULL	ENST00000172229.3	37	NULL	CCDS11549.1	17																																																																																			RP5-1029K10.2	-	-	ENSG00000249906		0.617	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100288866	Clone_based_vega_gene	protein_coding	OTTHUMT00000365150.1	-	0.00	63	0	G			47583543	-1	tier1	-	no_errors	ENST00000514506	ensembl	human	known	74_37	rna	20.00	32	8	SNP	0.000	A
RP11-435B5.5	0	genome.wustl.edu	37	1	143391578	143391578	+	lincRNA	SNP	T	T	G			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:143391578T>G	ENST00000428624.1	+	0	1794				RP11-435B5.4_ENST00000423249.1_lincRNA																							TTTGATGATCTTATGGCGGAG	0.303																																																	0																																												0																															1.37:g.143391578T>G				RNA	SNP	-	NULL	ENST00000428624.1	37	NULL		1																																																																																			RP11-435B5.5	-	-	ENSG00000238261		0.303	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	LOC101927345	Clone_based_vega_gene	lincRNA	OTTHUMT00000037971.1	-	0.00	142	0	T			143391578	+1	tier1	-	no_errors	ENST00000412492	ensembl	human	known	74_37	rna	17.31	277	58	SNP	0.685	G
MTMR9	66036	genome.wustl.edu	37	8	11177526	11177526	+	Intron	DEL	T	T	-			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr8:11177526delT	ENST00000221086.3	+	9	1959				MTMR9_ENST00000526292.1_Intron|AF131216.6_ENST00000498997.2_RNA	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9							cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		CTAGCCACACTTTTTTTTTTT	0.363																																																	0																																										SO:0001627	intron_variant	0			AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	14596	protein-coding gene	gene with protein product		606260	"""myotubularin related protein 8"""	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.1486+179T>-	8.37:g.11177526delT			B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	RNA	DEL	-	NULL	ENST00000221086.3	37	NULL	CCDS5979.1	8																																																																																			AF131216.6	-	-	ENSG00000246477		0.363	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101929290	Clone_based_vega_gene	protein_coding	OTTHUMT00000207307.2		0.00	13	0	T	NM_015458		11177526	-1	tier1		no_errors	ENST00000498997	ensembl	human	known	74_37	rna	28.57	10	4	DEL	0.005	-
RP11-704M14.1	0	genome.wustl.edu	37	4	70047830	70047830	+	RNA	SNP	A	A	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr4:70047830A>T	ENST00000504301.1	+	0	13																											AGACCCTGTGATTCCCCGTGG	0.443																																																	0																																												0																															4.37:g.70047830A>T				RNA	SNP	-	NULL	ENST00000504301.1	37	NULL		4																																																																																			RP11-704M14.1	-	-	ENSG00000250696		0.443	RP11-704M14.1-002	KNOWN	basic	antisense	LOC101930401	Clone_based_vega_gene	antisense	OTTHUMT00000365534.1	-	0.00	36	0	A			70047830	+1	tier1	-	no_errors	ENST00000504301	ensembl	human	known	74_37	rna	54.55	25	30	SNP	0.001	T
LOC728715	728715	genome.wustl.edu	37	12	9711038	9711038	+	RNA	SNP	C	C	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr12:9711038C>T	ENST00000520314.1	+	0	341																											GAGGCTTTTTCACTGTTGTGG	0.368																																																	0																																												0																															12.37:g.9711038C>T				RNA	SNP	-	NULL	ENST00000520314.1	37	NULL		12																																																																																			RP11-726G1.1	-	-	ENSG00000214776		0.368	RP11-726G1.1-002	KNOWN	basic	processed_transcript	LOC728715	Clone_based_vega_gene	pseudogene	OTTHUMT00000381543.1	-	0.00	159	0	C			9711038	+1	tier1	-	no_errors	ENST00000520314	ensembl	human	known	74_37	rna	6.06	124	8	SNP	0.969	T
LOXL3	84695	genome.wustl.edu	37	2	74762859	74762859	+	Missense_Mutation	SNP	G	G	C			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:74762859G>C	ENST00000264094.3	-	8	1343	c.1272C>G	c.(1270-1272)agC>agG	p.S424R	LOXL3_ENST00000409986.1_Missense_Mutation_p.S279R|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409549.1_Intron|LOXL3_ENST00000393937.2_Missense_Mutation_p.S279R	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	424	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CCTCATGTTGGCTGCGGCCCC	0.607																																																	0													38.0	45.0	42.0					2																	74762859		2203	4300	6503	SO:0001583	missense	0			AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.1272C>G	2.37:g.74762859G>C	ENSP00000264094:p.Ser424Arg		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR	p.S424R	ENST00000264094.3	37	c.1272	CCDS1953.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.38|15.38	2.816086|2.816086	0.50527|0.50527	.|.	.|.	ENSG00000115318|ENSG00000115318	ENST00000420535|ENST00000264094;ENST00000393937;ENST00000409986	.|T;T;T	.|0.33654	.|1.4;1.4;1.4	5.11|5.11	1.92|1.92	0.25849|0.25849	.|Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.|0.093850	.|0.85682	.|D	.|0.000000	T|T	0.44159|0.44159	0.1280|0.1280	L|L	0.56396|0.56396	1.775|1.775	0.34797|0.34797	D|D	0.736346|0.736346	.|P;P;B	.|0.51653	.|0.947;0.828;0.411	.|P;P;B	.|0.57468	.|0.691;0.821;0.321	T|T	0.51872|0.51872	-0.8650|-0.8650	5|10	.|0.37606	.|T	.|0.19	.|.	7.2269|7.2269	0.26020|0.26020	0.4119:0.0:0.5881:0.0|0.4119:0.0:0.5881:0.0	.|.	.|279;279;424	.|B9A025;Q6IPL7;P58215	.|.;.;LOXL3_HUMAN	A|R	151|424;279;279	.|ENSP00000264094:S424R;ENSP00000377512:S279R;ENSP00000386545:S279R	.|ENSP00000264094:S424R	P|S	-|-	1|3	0|2	LOXL3|LOXL3	74616367|74616367	0.909000|0.909000	0.30893|0.30893	0.885000|0.885000	0.34714|0.34714	0.992000|0.992000	0.81027|0.81027	0.496000|0.496000	0.22499|0.22499	0.258000|0.258000	0.21686|0.21686	0.563000|0.563000	0.77884|0.77884	CCA|AGC	LOXL3	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR	ENSG00000115318		0.607	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL3	HGNC	protein_coding	OTTHUMT00000252215.1	-	0.00	49	0	G	NM_032603		74762859	-1	tier1	-	no_errors	ENST00000264094	ensembl	human	known	74_37	missense	28.57	10	4	SNP	0.964	C
PLPPR4	9890	genome.wustl.edu	37	1	99764674	99764674	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:99764674C>A	ENST00000370185.3	+	4	1119	c.622C>A	c.(622-624)Ctg>Atg	p.L208M	LPPR4_ENST00000457765.1_Missense_Mutation_p.L208M|LPPR4_ENST00000370184.1_Missense_Mutation_p.L50M	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		208					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		ACCTTACTTTCTGACTGTGTG	0.378																																																	0													159.0	149.0	153.0					1																	99764674		2203	4300	6503	SO:0001583	missense	0																														ENST00000370185.3:c.622C>A	1.37:g.99764674C>A	ENSP00000359204:p.Leu208Met		E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.L208M	ENST00000370185.3	37	c.622	CCDS757.1	1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005533	0.74932	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.53423	0.62;0.62;0.62	5.41	4.5	0.54988	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.57799	0.2078	M	0.75447	2.3	0.53688	D	0.99997	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.64736	-0.6337	10	0.87932	D	0	-14.8338	10.7178	0.46023	0.0:0.854:0.0:0.146	.	208;208	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	M	208;208;208;50	ENSP00000359204:L208M;ENSP00000394913:L208M;ENSP00000359203:L50M	ENSP00000263178:L208M	L	+	1	2	RP4-788L13.1	99537262	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.693000	0.47027	1.429000	0.47314	0.650000	0.86243	CTG	LPPR4	-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	ENSG00000117600		0.378	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR4	Uniprot_gn	protein_coding	OTTHUMT00000029670.2	-	0.00	35	0	C			99764674	+1	tier1	-	no_errors	ENST00000370185	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	A
LRCOL1	100507055	genome.wustl.edu	37	12	133179844	133179844	+	lincRNA	SNP	A	A	G			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr12:133179844A>G	ENST00000545517.1	-	0	1842							A6NCL2	LRCL1_HUMAN	leucine rich colipase-like 1						digestion (GO:0007586)|lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	enzyme activator activity (GO:0008047)										ACAGCCTTTCAGTTCCCACAG	0.557																																																	0																																												0				CCDS73547.1	12q24.33	2012-07-02			ENSG00000204583	ENSG00000204583			44160	protein-coding gene	gene with protein product							Standard	NM_001195520		Approved		uc021rgr.1	A6NCL2	OTTHUMG00000168043		12.37:g.133179844A>G			H9BFB1	RNA	SNP	-	NULL	ENST00000545517.1	37	NULL		12																																																																																			LRCOL1	-	-	ENSG00000204583		0.557	LRCOL1-003	KNOWN	basic	lincRNA	LRCOL1	HGNC	lincRNA	OTTHUMT00000397683.1	-	0.00	130	0	A	NM_001195520		133179844	-1	tier1	-	no_errors	ENST00000376608	ensembl	human	known	74_37	rna	14.29	30	5	SNP	0.000	G
LRRC32	2615	genome.wustl.edu	37	11	76371080	76371080	+	Silent	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr11:76371080G>T	ENST00000407242.2	-	3	1799	c.1557C>A	c.(1555-1557)ctC>ctA	p.L519L	LRRC32_ENST00000404995.1_Silent_p.L519L|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Silent_p.L519L|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	519					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CGGCAAGATTGAGCCGCTTGA	0.637																																																	0													43.0	42.0	42.0					11																	76371080		2200	4292	6492	SO:0001819	synonymous_variant	0			Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.1557C>A	11.37:g.76371080G>T			Q86V06	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp	p.L519	ENST00000407242.2	37	c.1557	CCDS8245.1	11																																																																																			LRRC32	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000137507		0.637	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC32	HGNC	protein_coding	OTTHUMT00000257926.2	-	0.00	57	0	G	NM_005512		76371080	-1	tier1	-	no_errors	ENST00000260061	ensembl	human	known	74_37	silent	20.00	12	3	SNP	0.998	T
LRRC8E	80131	genome.wustl.edu	37	19	7960626	7960626	+	Splice_Site	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:7960626G>T	ENST00000306708.6	+	2	239	c.138G>T	c.(136-138)caG>caT	p.Q46H		NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	46					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						GCACCCTCCAGGTGAGGCCCT	0.622																																																	0													85.0	67.0	73.0					19																	7960626		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.138+1G>T	19.37:g.7960626G>T			B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.Q46H	ENST00000306708.6	37	c.138	CCDS12189.1	19	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677123	0.88445	.	.	ENSG00000171017	ENST00000306708	T	0.36157	1.27	4.49	4.49	0.54785	Leucine-rich repeat-containing protein 8, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.58935	0.2157	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63839	-0.6546	10	0.87932	D	0	.	14.7321	0.69388	0.0:0.0:1.0:0.0	.	46	Q6NSJ5	LRC8E_HUMAN	H	46	ENSP00000306524:Q46H	ENSP00000306524:Q46H	Q	+	3	2	LRRC8E	7866626	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.732000	0.84908	2.327000	0.79052	0.491000	0.48974	CAG	LRRC8E	-	pfam_LRR_protein-8_N	ENSG00000171017		0.622	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8E	HGNC	protein_coding	OTTHUMT00000461354.1	-	0.00	136	0	G	NM_025061	Missense_Mutation	7960626	+1	tier1	-	no_errors	ENST00000306708	ensembl	human	known	74_37	missense	10.42	43	5	SNP	1.000	T
LRRC9	341883	genome.wustl.edu	37	14	60483399	60483399	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr14:60483399G>A	ENST00000445360.1	+	24	3412	c.3208G>A	c.(3208-3210)Gca>Aca	p.A1070T	RP11-16B13.1_ENST00000555432.1_RNA|RP11-16B13.1_ENST00000554123.1_RNA			Q6ZRR7	LRRC9_HUMAN	leucine rich repeat containing 9	1070																	GACTGACAGTGCAAAAGATTT	0.348																																																	0																																										SO:0001583	missense	0			AK128037		14q23.1	2013-01-29	2003-11-19		ENSG00000131951	ENSG00000131951			19848	other	unknown			"""leucine-rich repeat-containing 9"""				Standard	NR_075071		Approved	FLJ46156	uc001xep.1	Q6ZRR7	OTTHUMG00000028948	ENST00000445360.1:c.3208G>A	14.37:g.60483399G>A	ENSP00000454748:p.Ala1070Thr			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.A1070T	ENST00000445360.1	37	c.3208		14																																																																																			LRRC9	-	NULL	ENSG00000131951		0.348	LRRC9-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	LRRC9	HGNC	protein_coding	OTTHUMT00000072281.3		0.00	52	0	G			60483399	+1			no_errors	ENST00000254271	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	A
LSM14A	26065	genome.wustl.edu	37	19	34685532	34685532	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:34685532C>A	ENST00000433627.5	+	2	346	c.271C>A	c.(271-273)Cca>Aca	p.P91T	LSM14A_ENST00000544216.3_Missense_Mutation_p.P91T|LSM14A_ENST00000540746.2_Missense_Mutation_p.P91T	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	91					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					GCCTCAAGACCCAGCTATTGT	0.413																																																	0													187.0	166.0	173.0					19																	34685532		2203	4300	6503	SO:0001583	missense	0			AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"""chromosome 19 open reading frame 13"", ""family with sequence similarity 61, member A"", ""LSM14 homolog A (SCD6, S. cerevisiae)"""	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.271C>A	19.37:g.34685532C>A	ENSP00000413964:p.Pro91Thr		B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Missense_Mutation	SNP	pfam_FDF_dom,superfamily_LSM_dom	p.P91T	ENST00000433627.5	37	c.271	CCDS46040.1	19	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643480	0.87859	.	.	ENSG00000257103	ENST00000544216;ENST00000433627;ENST00000540746	T;T;T	0.61392	0.11;0.11;0.29	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.82811	0.5118	M	0.93638	3.44	0.80722	D	1	D;D;D	0.89917	1.0;0.99;1.0	D;P;D	0.81914	0.992;0.87;0.995	D	0.87158	0.2213	10	0.72032	D	0.01	-10.8197	19.1769	0.93605	0.0:1.0:0.0:0.0	.	91;91;91	B4DTG6;Q8ND56;Q8ND56-2	.;LS14A_HUMAN;.	T	91	ENSP00000446271:P91T;ENSP00000413964:P91T;ENSP00000446451:P91T	ENSP00000314768:P91T	P	+	1	0	LSM14A	39377372	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.764000	0.85297	2.609000	0.88269	0.655000	0.94253	CCA	LSM14A	-	NULL	ENSG00000257103		0.413	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LSM14A	HGNC	protein_coding	OTTHUMT00000451576.3	-	0.00	75	0	C	NM_015578		34685532	+1	tier1	-	no_errors	ENST00000433627	ensembl	human	known	74_37	missense	24.18	68	22	SNP	1.000	A
MAL	4118	genome.wustl.edu	37	2	95719156	95719156	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:95719156G>A	ENST00000309988.4	+	4	527	c.418G>A	c.(418-420)Gtg>Atg	p.V140M	MAL_ENST00000354078.3_Missense_Mutation_p.V84M|MAL_ENST00000353004.3_Missense_Mutation_p.V98M|MAL_ENST00000349807.3_Missense_Mutation_p.V42M|AC103563.9_ENST00000442200.1_RNA	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	140	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|membrane raft polarization (GO:0001766)|myelination (GO:0042552)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	channel activity (GO:0015267)|lipid binding (GO:0008289)|peptidase activator activity involved in apoptotic process (GO:0016505)|structural constituent of myelin sheath (GO:0019911)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		TCTGCTCTACGTGGTCCATGC	0.512																																																	0													228.0	212.0	217.0					2																	95719156		2203	4300	6503	SO:0001583	missense	0				CCDS2006.1, CCDS2007.1, CCDS2008.1, CCDS2009.1	2q11.1	2008-07-29			ENSG00000172005	ENSG00000172005			6817	protein-coding gene	gene with protein product		188860					Standard	NM_002371		Approved		uc002stx.2	P21145	OTTHUMG00000132011	ENST00000309988.4:c.418G>A	2.37:g.95719156G>A	ENSP00000310880:p.Val140Met		Q6FH77	Missense_Mutation	SNP	pfam_Marvel,prints_MAL	p.V140M	ENST00000309988.4	37	c.418	CCDS2006.1	2	.	.	.	.	.	.	.	.	.	.	G	13.86	2.361864	0.41801	.	.	ENSG00000172005	ENST00000309988;ENST00000353004;ENST00000354078;ENST00000349807	T;T	0.45668	1.64;0.89	5.57	2.84	0.33178	Marvel (1);MARVEL-like domain (1);	0.229924	0.46145	D	0.000317	T	0.29321	0.0730	L	0.48642	1.525	0.21897	N	0.99948	B;P;P;P	0.46656	0.389;0.719;0.882;0.875	B;B;B;B	0.36766	0.023;0.104;0.232;0.218	T	0.12656	-1.0539	10	0.34782	T	0.22	.	7.9755	0.30153	0.2543:0.0:0.7457:0.0	.	42;98;84;140	P21145-4;P21145-2;P21145-3;P21145	.;.;.;MAL_HUMAN	M	140;98;84;42	ENSP00000310880:V140M;ENSP00000306568:V98M	ENSP00000310880:V140M	V	+	1	0	MAL	95082883	0.999000	0.42202	1.000000	0.80357	0.967000	0.64934	2.464000	0.45067	0.429000	0.26202	0.650000	0.86243	GTG	MAL	-	pfam_Marvel	ENSG00000172005		0.512	MAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAL	HGNC	protein_coding	OTTHUMT00000254982.3	-	0.00	92	0	G	NM_002371		95719156	+1	tier1	-	no_errors	ENST00000309988	ensembl	human	known	74_37	missense	14.55	47	8	SNP	1.000	A
MANEAL	149175	genome.wustl.edu	37	1	38265826	38265826	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:38265826G>A	ENST00000373045.6	+	4	1706	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H	RP11-109P14.9_ENST00000433474.1_RNA|MANEAL_ENST00000329006.5_Missense_Mutation_p.R220H|MANEAL_ENST00000397631.3_3'UTR|MANEAL_ENST00000525897.1_Missense_Mutation_p.R248H	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	442						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GAGCTGACACGCCGCTGGGCG	0.582																																																	0													52.0	58.0	56.0					1																	38265826		2180	4275	6455	SO:0001583	missense	0			AK055996	CCDS426.1, CCDS44110.1, CCDS44111.1	1p34.3	2008-02-05			ENSG00000185090	ENSG00000185090			26452	protein-coding gene	gene with protein product							Standard	NM_152496		Approved	FLJ31434	uc001cby.2	Q5VSG8	OTTHUMG00000004317	ENST00000373045.6:c.1325G>A	1.37:g.38265826G>A	ENSP00000362136:p.Arg442His		Q6DD86|Q6P497|Q8N5P8|Q96G55|Q96N42	Missense_Mutation	SNP	NULL	p.R442H	ENST00000373045.6	37	c.1325	CCDS44110.1	1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843790	0.71488	.	.	ENSG00000185090	ENST00000373045;ENST00000525897;ENST00000329006	.	.	.	5.62	5.62	0.85841	.	0.100137	0.64402	D	0.000004	T	0.68906	0.3052	M	0.84846	2.72	0.49130	D	0.999752	B;P	0.38642	0.139;0.641	B;B	0.36989	0.027;0.238	T	0.74581	-0.3618	9	0.59425	D	0.04	-16.9458	18.2155	0.89884	0.0:0.0:1.0:0.0	.	220;442	Q5VSG8-2;Q5VSG8	.;MANEL_HUMAN	H	442;248;220	.	ENSP00000328770:R220H	R	+	2	0	MANEAL	38038413	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.247000	0.72411	2.662000	0.90505	0.655000	0.94253	CGC	MANEAL	-	NULL	ENSG00000185090		0.582	MANEAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MANEAL	HGNC	protein_coding	OTTHUMT00000012469.2		0.00	67	0	G	NM_152496		38265826	+1			no_errors	ENST00000373045	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	A
MAP3K9	4293	genome.wustl.edu	37	14	71209233	71209233	+	Frame_Shift_Del	DEL	G	G	-			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr14:71209233delG	ENST00000554752.2	-	6	1401	c.1402delC	c.(1402-1404)cggfs	p.R468fs	MAP3K9_ENST00000554146.1_Frame_Shift_Del_p.R205fs|MAP3K9_ENST00000555993.2_Frame_Shift_Del_p.R468fs|MAP3K9_ENST00000381250.4_Frame_Shift_Del_p.R468fs|MAP3K9_ENST00000553414.1_Frame_Shift_Del_p.R162fs	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	468	Leucine-zipper 2.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TCCTGCTCCCGACGCCGCAGC	0.617																																					GBM(114;411 1587 13539 28235 50070)												0													54.0	49.0	51.0					14																	71209233		2203	4300	6503	SO:0001589	frameshift_variant	0			AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.1402delC	14.37:g.71209233delG	ENSP00000451612:p.Arg468fs		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Frame_Shift_Del	DEL	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.R468fs	ENST00000554752.2	37	c.1402		14																																																																																			MAP3K9	-	pirsf_MAPKKK9/10/11,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam	ENSG00000006432		0.617	MAP3K9-001	KNOWN	basic	protein_coding	MAP3K9	HGNC	protein_coding	OTTHUMT00000412550.2		0.00	64	0	G			71209233	-1	tier1		no_errors	ENST00000555993	ensembl	human	known	74_37	frame_shift_del	9.52	19	2	DEL	1.000	-
MBD1	4152	genome.wustl.edu	37	18	47801528	47801528	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr18:47801528G>T	ENST00000591416.1	-	9	1311	c.880C>A	c.(880-882)Cca>Aca	p.P294T	MBD1_ENST00000585595.1_Missense_Mutation_p.P319T|MBD1_ENST00000339998.6_Missense_Mutation_p.P294T|MBD1_ENST00000398488.1_Missense_Mutation_p.P294T|MBD1_ENST00000269471.5_Missense_Mutation_p.P294T|MBD1_ENST00000353909.3_Missense_Mutation_p.P245T|MBD1_ENST00000347968.3_Missense_Mutation_p.P294T|MBD1_ENST00000457839.2_Missense_Mutation_p.P319T|MBD1_ENST00000269468.5_Missense_Mutation_p.P294T|MBD1_ENST00000591535.1_Missense_Mutation_p.P294T|MBD1_ENST00000587605.1_Missense_Mutation_p.P294T|MBD1_ENST00000349085.2_Missense_Mutation_p.P294T|MBD1_ENST00000436910.1_Missense_Mutation_p.P294T|MBD1_ENST00000382948.5_Missense_Mutation_p.P294T|MBD1_ENST00000398495.2_Missense_Mutation_p.P319T|MBD1_ENST00000424334.2_Missense_Mutation_p.P345T|MBD1_ENST00000588937.1_Missense_Mutation_p.P294T|MBD1_ENST00000590208.1_Missense_Mutation_p.P294T|MBD1_ENST00000398493.1_Missense_Mutation_p.P294T|MBD1_ENST00000585672.1_Missense_Mutation_p.P245T			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	294	Pro-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						GACTGTGATGGGGGTGGTGGA	0.662																																																	0													36.0	45.0	42.0					18																	47801528		2203	4300	6503	SO:0001583	missense	0			Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.880C>A	18.37:g.47801528G>T	ENSP00000467017:p.Pro294Thr		A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_CXXC	p.P345T	ENST00000591416.1	37	c.1033	CCDS11943.1	18	.	.	.	.	.	.	.	.	.	.	g	2.917	-0.224156	0.06061	.	.	ENSG00000141644	ENST00000382948;ENST00000353909;ENST00000349085;ENST00000269468;ENST00000347968;ENST00000436910;ENST00000269471;ENST00000424334;ENST00000339998;ENST00000398495;ENST00000457839;ENST00000398493;ENST00000398488	D;D;D;D;D;D;D;D;D;D;D;D	0.95447	-3.69;-3.69;-3.64;-3.69;-3.63;-3.71;-3.7;-3.71;-3.69;-3.71;-3.63;-3.64	4.68	-0.457	0.12186	.	0.484707	0.19111	N	0.122434	D	0.85762	0.5772	N	0.19112	0.55	0.09310	N	1	B;P;B;B;B;P;B;P;B;B;B;B	0.38504	0.19;0.469;0.277;0.017;0.218;0.634;0.011;0.493;0.017;0.321;0.017;0.321	B;B;B;B;B;B;B;B;B;B;B;B	0.30495	0.039;0.11;0.079;0.034;0.075;0.085;0.029;0.116;0.034;0.108;0.034;0.108	T	0.78927	-0.2011	10	0.30078	T	0.28	-0.0231	4.8294	0.13432	0.0963:0.5303:0.2399:0.1335	.	294;345;294;294;294;294;245;294;294;294;319;294	B4DUR3;B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-5;Q9UIS9-4;Q9UIS9;Q9UIS9-7;B4DXJ5;Q9UIS9-3	.;.;.;.;.;.;.;.;MBD1_HUMAN;.;.;.	T	294;245;294;294;294;294;294;345;294;294;319;294;294	ENSP00000372407:P294T;ENSP00000269469:P245T;ENSP00000342531:P294T;ENSP00000269468:P294T;ENSP00000285102:P294T;ENSP00000409561:P294T;ENSP00000269471:P294T;ENSP00000408846:P345T;ENSP00000339546:P294T;ENSP00000405268:P319T;ENSP00000381506:P294T;ENSP00000381502:P294T	ENSP00000269468:P294T	P	-	1	0	MBD1	46055526	0.002000	0.14202	0.000000	0.03702	0.051000	0.14879	0.489000	0.22387	-0.008000	0.14320	-0.323000	0.08544	CCA	MBD1	-	NULL	ENSG00000141644		0.662	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MBD1	HGNC	protein_coding	OTTHUMT00000255926.3	-	0.00	198	0	G	NM_015846		47801528	-1	tier1	-	no_errors	ENST00000424334	ensembl	human	known	74_37	missense	19.05	17	4	SNP	0.000	T
MCCC2	64087	genome.wustl.edu	37	5	70939714	70939714	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:70939714G>A	ENST00000340941.6	+	12	1270	c.1141G>A	c.(1141-1143)Gca>Aca	p.A381T	MCCC2_ENST00000323375.8_Missense_Mutation_p.A343T	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	381	Carboxyltransferase.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	TTCTGAATCTGCAAAAAAGGC	0.299																																																	0													111.0	121.0	118.0					5																	70939714		2203	4300	6503	SO:0001583	missense	0			AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"""methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"""				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.1141G>A	5.37:g.70939714G>A	ENSP00000343657:p.Ala381Thr		A6NIY9|Q96C27|Q9Y4L7	Missense_Mutation	SNP	pfam_Carboxyl_trans,pfscan_COA_CT_N,pfscan_COA_CT_C	p.A381T	ENST00000340941.6	37	c.1141	CCDS34184.1	5	.	.	.	.	.	.	.	.	.	.	G	33	5.261175	0.95368	.	.	ENSG00000131844	ENST00000340941;ENST00000323375;ENST00000509539	D;D;D	0.98567	-5.0;-5.0;-5.0	5.65	5.65	0.86999	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.000000	0.85682	D	0.000000	D	0.99339	0.9768	H	0.97051	3.93	0.80722	D	1	D	0.67145	0.996	D	0.68039	0.955	D	0.98758	1.0723	10	0.87932	D	0	-8.8497	18.5014	0.90882	0.0:0.0:1.0:0.0	.	381	Q9HCC0	MCCB_HUMAN	T	381;343;153	ENSP00000343657:A381T;ENSP00000327308:A343T;ENSP00000425474:A153T	ENSP00000327308:A343T	A	+	1	0	MCCC2	70975470	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.529000	0.98049	2.664000	0.90586	0.650000	0.86243	GCA	MCCC2	-	pfam_Carboxyl_trans,pfscan_COA_CT_C	ENSG00000131844		0.299	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCCC2	HGNC	protein_coding	OTTHUMT00000369243.4	-	0.00	70	0	G			70939714	+1	tier1	-	no_errors	ENST00000340941	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	A
MED20	9477	genome.wustl.edu	37	6	41884553	41884553	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr6:41884553G>T	ENST00000265350.4	-	2	219	c.139C>A	c.(139-141)Cat>Aat	p.H47N	MED20_ENST00000467535.1_5'UTR|MED20_ENST00000409060.1_Missense_Mutation_p.H47N|MED20_ENST00000409312.1_Missense_Mutation_p.H47N|Y_RNA_ENST00000384641.1_RNA	NM_004275.3	NP_004266.2	Q9H944	MED20_HUMAN	mediator complex subunit 20	47					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA-directed RNA polymerase activity (GO:0003899)|RNA polymerase II transcription cofactor activity (GO:0001104)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)|pancreas(1)	5	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCGGCCGTATGGTAAGTCTCA	0.507																																																	0													144.0	129.0	134.0					6																	41884553		2203	4300	6503	SO:0001583	missense	0			AF097725	CCDS4862.1	6p21.1	2008-02-05	2007-07-30	2007-07-30	ENSG00000124641	ENSG00000124641			16840	protein-coding gene	gene with protein product		612915	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"""	TRFP		9933582, 15175163	Standard	NM_004275		Approved	DKFZp586D2223, PRO0213	uc011dui.3	Q9H944	OTTHUMG00000014689	ENST00000265350.4:c.139C>A	6.37:g.41884553G>T	ENSP00000265350:p.His47Asn		B4DE08|O95821|Q5T8J4|Q9Y429	Missense_Mutation	SNP	pfam_Mediator_Med20	p.H47N	ENST00000265350.4	37	c.139	CCDS4862.1	6	.	.	.	.	.	.	.	.	.	.	G	14.48	2.549117	0.45383	.	.	ENSG00000124641	ENST00000265350;ENST00000409312;ENST00000394251;ENST00000409060	.	.	.	5.44	5.44	0.79542	.	0.201500	0.52532	D	0.000076	T	0.50990	0.1648	L	0.50993	1.605	0.47441	D	0.999421	P;P	0.42584	0.784;0.761	B;P	0.48571	0.39;0.582	T	0.44528	-0.9322	9	0.26408	T	0.33	-29.7468	17.0535	0.86526	0.0:0.0:1.0:0.0	.	47;47	B4DE08;Q9H944	.;MED20_HUMAN	N	47;47;39;47	.	ENSP00000265350:H47N	H	-	1	0	MED20	41992531	1.000000	0.71417	1.000000	0.80357	0.113000	0.19764	7.358000	0.79466	2.543000	0.85770	0.650000	0.86243	CAT	MED20	-	pfam_Mediator_Med20	ENSG00000124641		0.507	MED20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED20	HGNC	protein_coding	OTTHUMT00000040539.1		0.00	128	0	G	NM_004275		41884553	-1			no_errors	ENST00000265350	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T
MEF2C	4208	genome.wustl.edu	37	5	88178821	88178824	+	5'UTR	DEL	AGAG	AGAG	-			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	AGAG	AGAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:88178821_88178824delAGAG	ENST00000437473.2	-	0	226_229				MEF2C_ENST00000504921.2_5'UTR|MEF2C_ENST00000508569.1_5'UTR|MEF2C-AS1_ENST00000514794.1_RNA|MEF2C_ENST00000514028.1_5'UTR|MEF2C_ENST00000340208.5_Intron|MEF2C_ENST00000514015.1_5'UTR|MEF2C_ENST00000424173.2_Intron|MEF2C_ENST00000506554.1_5'UTR|MEF2C-AS1_ENST00000512585.1_RNA|MEF2C-AS1_ENST00000511100.1_RNA|MEF2C_ENST00000510942.1_5'UTR	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C						apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TCCTTTCTTAAGAGAGAGAGAGAG	0.422										HNSCC(66;0.2)																																							0																																										SO:0001623	5_prime_UTR_variant	0			AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.-192CTCT>-	5.37:g.88178829_88178832delAGAG			C9JMZ0|D7F7N5|F8W7V7	RNA	DEL	-	NULL	ENST00000437473.2	37	NULL	CCDS47245.1	5																																																																																			MEF2C	-	-	ENSG00000081189		0.422	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	MEF2C	HGNC	protein_coding	OTTHUMT00000369817.1		0.00	27	0	AGAG	NM_002397		88178824	-1	tier1		no_errors	ENST00000509349	ensembl	human	known	74_37	rna	25.00	6	2	DEL	0.991:0.982:0.984:0.971	-
MELK	9833	genome.wustl.edu	37	9	36665360	36665360	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:36665360G>T	ENST00000298048.2	+	14	1374	c.1190G>T	c.(1189-1191)tGg>tTg	p.W397L	MELK_ENST00000545008.1_Missense_Mutation_p.W326L|MELK_ENST00000543751.1_Missense_Mutation_p.W365L|MELK_ENST00000541717.1_Missense_Mutation_p.W356L|MELK_ENST00000536329.1_Missense_Mutation_p.W326L|MELK_ENST00000538311.1_Missense_Mutation_p.W203L|MELK_ENST00000536987.1_Missense_Mutation_p.W266L|MELK_ENST00000536860.1_Missense_Mutation_p.W349L	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	397	Autoinhibitory region.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neural precursor cell proliferation (GO:0061351)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)	cell cortex (GO:0005938)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			ACCAAGTACTGGACAGAATCA	0.328																																					Ovarian(82;980 1317 7225 14391 18624)												0													61.0	62.0	62.0					9																	36665360		2203	4300	6503	SO:0001583	missense	0			D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304			16870	protein-coding gene	gene with protein product		607025				8724849, 9136115	Standard	NM_001256689		Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.1190G>T	9.37:g.36665360G>T	ENSP00000298048:p.Trp397Leu		A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.W397L	ENST00000298048.2	37	c.1190	CCDS6606.1	9	.	.	.	.	.	.	.	.	.	.	G	1.480	-0.557499	0.03967	.	.	ENSG00000165304	ENST00000298048;ENST00000538311;ENST00000536987;ENST00000545008;ENST00000536860;ENST00000536329;ENST00000541717;ENST00000543751	T;T;T;T;T;T;T;T	0.69685	-0.24;0.77;0.54;1.08;0.45;-0.42;-0.23;-0.24	5.52	2.62	0.31277	.	0.973510	0.08553	N	0.928707	T	0.50939	0.1645	L	0.29908	0.895	0.25111	N	0.990712	B;B;B;B;B;B;B	0.06786	0.001;0.001;0.001;0.0;0.001;0.0;0.0	B;B;B;B;B;B;B	0.10450	0.002;0.005;0.005;0.002;0.003;0.001;0.0	T	0.36456	-0.9747	10	0.25106	T	0.35	-1.6676	5.4395	0.16500	0.0794:0.143:0.6296:0.148	.	317;326;349;356;326;365;397	B7Z1G6;F5H2R4;F5H0Y0;F5H689;A6P3A8;A6P3A7;Q14680	.;.;.;.;.;.;MELK_HUMAN	L	397;203;266;326;349;326;356;365	ENSP00000298048:W397L;ENSP00000438226:W203L;ENSP00000439184:W266L;ENSP00000445452:W326L;ENSP00000439792:W349L;ENSP00000443550:W326L;ENSP00000437804:W356L;ENSP00000441596:W365L	ENSP00000298048:W397L	W	+	2	0	MELK	36655360	1.000000	0.71417	0.995000	0.50966	0.069000	0.16628	1.549000	0.36212	0.660000	0.30964	0.557000	0.71058	TGG	MELK	-	NULL	ENSG00000165304		0.328	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MELK	HGNC	protein_coding	OTTHUMT00000052428.3		0.00	35	0	G	NM_014791		36665360	+1			no_errors	ENST00000298048	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.997	T
MGAT5B	146664	genome.wustl.edu	37	17	74898751	74898751	+	Splice_Site	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr17:74898751G>T	ENST00000569840.2	+	4	1018	c.444G>T	c.(442-444)aaG>aaT	p.K148N	MGAT5B_ENST00000428789.2_Splice_Site_p.K159N|MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000301618.4_Splice_Site_p.K148N	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	148					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGCACAGCAAGGGTGGGTGCC	0.662																																																	0													17.0	15.0	15.0					17																	74898751		2200	4295	6495	SO:0001630	splice_region_variant	0			AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.445+1G>T	17.37:g.74898751G>T			Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	superfamily_PyrdxlP-dep_Trfase	p.K159N	ENST00000569840.2	37	c.477	CCDS59299.1	17	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582014	0.65992	.	.	ENSG00000167889	ENST00000374998;ENST00000301618;ENST00000428789	T;T	0.48836	0.8;0.8	5.28	4.31	0.51392	.	0.263474	0.36338	N	0.002660	T	0.34483	0.0899	L	0.31664	0.95	0.80722	D	1	P;P	0.50272	0.933;0.873	P;P	0.47346	0.544;0.544	T	0.06516	-1.0822	10	0.15499	T	0.54	-35.24	5.672	0.17728	0.2565:0.0:0.7435:0.0	.	159;148	Q3V5L5-2;Q3V5L5-5	.;.	N	148;148;159	ENSP00000301618:K148N;ENSP00000391227:K159N	ENSP00000301618:K148N	K	+	3	2	MGAT5B	72410346	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.525000	0.45598	2.453000	0.82957	0.655000	0.94253	AAG	MGAT5B	-	NULL	ENSG00000167889		0.662	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGAT5B	HGNC	protein_coding	OTTHUMT00000460624.2	-	0.00	103	0	G	NM_144677	Missense_Mutation	74898751	+1	tier1	-	no_errors	ENST00000428789	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T
MIR137HG	400765	genome.wustl.edu	37	1	98511629	98511629	+	lincRNA	SNP	C	C	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:98511629C>T	ENST00000580305.1	-	0	0				MIR137HG_ENST00000385223.1_lincRNA	NR_039604.1				MIR137 host gene (non-protein coding)																		GCCCCCCTGCCGCTGGTACTC	0.552																																																	0													14.0	19.0	17.0					1																	98511629		1195	2765	3960			0			AK094607		1p21.3	2013-05-22			ENSG00000225206	ENSG00000225206		"""Long non-coding RNAs"""	42871	non-coding RNA	RNA, long non-coding							Standard	NR_046105		Approved		uc001drx.2		OTTHUMG00000010680		1.37:g.98511629C>T				RNA	SNP	-	NULL	ENST00000580305.1	37	NULL		1																																																																																			MIR137HG	-	-	ENSG00000225206		0.552	MIR137HG-203	KNOWN	basic	miRNA	MIR137HG	HGNC	lincRNA		-	0.00	198	0	C	NR_046105		98511629	-1	tier1	-	no_errors	ENST00000385223	ensembl	human	known	74_37	rna	42.99	61	46	SNP	1.000	T
MED13L	23389	genome.wustl.edu	37	12	116586414	116586414	+	Intron	SNP	C	C	A	rs556083996|rs10549054|rs3043743|rs77703604|rs140957424|rs370738530|rs368602518|rs113328518	byFrequency	TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr12:116586414C>A	ENST00000281928.3	-	3	517				MED13L_ENST00000551197.1_Intron|MIR620_ENST00000385232.1_RNA	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like							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)		atggagatatctatatatata	0.249													C|||	57	0.0113818	0.0197	0.0101	5008	,	,		9457	0.005		0.0149	False		,,,				2504	0.0041																0													12.0	11.0	11.0					12																	116586414		1448	3337	4785	SO:0001627	intron_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.311-37097G>T	12.37:g.116586414C>A			A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	RNA	SNP	-	NULL	ENST00000281928.3	37	NULL	CCDS9177.1	12																																																																																			MIR620	-	-	ENSG00000207967		0.249	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR620	HGNC	protein_coding	OTTHUMT00000403879.3		0.00	35	0	C			116586414	-1			no_errors	ENST00000385232	ensembl	human	known	74_37	rna	6.76	69	5	SNP	0.000	A
MIXL1	83881	genome.wustl.edu	37	1	226413645	226413645	+	3'UTR	SNP	C	C	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:226413645C>T	ENST00000366810.5	+	0	895				MIXL1_ENST00000557734.1_3'UTR			Q9H2W2	MIXL1_HUMAN	Mix paired-like homeobox						cell migration involved in gastrulation (GO:0042074)|digestive tract development (GO:0048565)|endoderm development (GO:0007492)|endodermal cell differentiation (GO:0035987)|gastrulation (GO:0007369)|heart development (GO:0007507)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of hematopoietic progenitor cell differentiation (GO:1901533)|positive regulation of mesoderm development (GO:2000382)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nuclear chromatin (GO:0000790)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)			breast(1)	1	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		ATGGTTTTGACAGCACCTCTC	0.488																																					Pancreas(72;1302 1881 20981 22800)												0																																										SO:0001624	3_prime_UTR_variant	0			AF211891	CCDS1552.1, CCDS60432.1	1q42.12	2011-06-20	2011-06-01		ENSG00000185155	ENSG00000185155		"""Homeoboxes / PRD class"""	13363	protein-coding gene	gene with protein product		609852	"""Mix1 homeobox (Xenopus laevis)-like 1"", ""Mix1 homeobox-like 1 (Xenopus laevis)"""			12095687, 12070013	Standard	NM_031944		Approved	MILD1, MIXL	uc010pvm.2	Q9H2W2	OTTHUMG00000037558	ENST00000366810.5:c.*132C>T	1.37:g.226413645C>T			B7ZLF9	RNA	SNP	-	NULL	ENST00000366810.5	37	NULL	CCDS1552.1	1																																																																																			MIXL1	-	-	ENSG00000185155		0.488	MIXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIXL1	HGNC	protein_coding	OTTHUMT00000091526.3	-	0.00	14	0	C			226413645	+1	tier1	-	no_errors	ENST00000557734	ensembl	human	putative	74_37	rna	44.44	5	4	SNP	0.000	T
MMS22L	253714	genome.wustl.edu	37	6	97599647	97599647	+	Splice_Site	SNP	C	C	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr6:97599647C>A	ENST00000275053.4	-	23	3747	c.3482G>T	c.(3481-3483)aGg>aTg	p.R1161M	MMS22L_ENST00000369251.2_Splice_Site_p.R1121M	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1161					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TTCCAGTTACCTAAACACAGA	0.418																																																	0													173.0	174.0	173.0					6																	97599647		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.3482+1G>T	6.37:g.97599647C>A			D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R1161M	ENST00000275053.4	37	c.3482	CCDS5039.1	6	.	.	.	.	.	.	.	.	.	.	C	23.9	4.465979	0.84425	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.35605	1.3;1.3	5.54	5.54	0.83059	.	0.048683	0.85682	D	0.000000	T	0.56031	0.1958	M	0.71581	2.175	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.991	T	0.59386	-0.7464	10	0.87932	D	0	-11.2124	19.4923	0.95056	0.0:1.0:0.0:0.0	.	1121;1161	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	M	1161;1121	ENSP00000275053:R1161M;ENSP00000358254:R1121M	ENSP00000275053:R1161M	R	-	2	0	MMS22L	97706368	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.677000	0.68142	2.607000	0.88179	0.650000	0.86243	AGG	MMS22L	-	superfamily_ARM-type_fold	ENSG00000146263		0.418	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS22L	HGNC	protein_coding	OTTHUMT00000041573.3	-	0.00	97	0	C	NM_198468	Missense_Mutation	97599647	-1	tier1	-	no_errors	ENST00000275053	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	A
MOV10L1	54456	genome.wustl.edu	37	22	50530519	50530519	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr22:50530519G>T	ENST00000262794.5	+	2	270	c.187G>T	c.(187-189)Gat>Tat	p.D63Y	MOV10L1_ENST00000395858.3_Missense_Mutation_p.D63Y|MOV10L1_ENST00000540615.1_Missense_Mutation_p.D43Y|MOV10L1_ENST00000475190.1_3'UTR|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.D63Y	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	63					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CTTCTCCAGTGATGCTGTGAC	0.448																																																	0													309.0	257.0	274.0					22																	50530519		2203	4300	6503	SO:0001583	missense	0			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.187G>T	22.37:g.50530519G>T	ENSP00000262794:p.Asp63Tyr		A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold	p.D63Y	ENST00000262794.5	37	c.187	CCDS14084.1	22	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053520	0.75960	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615;ENST00000428564	D;D;D;D	0.87887	-2.13;-2.13;-1.74;-2.31	5.21	5.21	0.72293	.	0.747115	0.13221	N	0.404371	D	0.93341	0.7877	M	0.72118	2.19	0.80722	D	1	P;D;P;P	0.89917	0.905;1.0;0.846;0.846	P;D;P;P	0.72338	0.6;0.977;0.499;0.58	D	0.92975	0.6401	10	0.72032	D	0.01	-15.2505	18.4023	0.90520	0.0:0.0:1.0:0.0	.	43;43;63;63	F5H403;E7EPK8;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	Y	63;63;63;43;43	ENSP00000438978:D63Y;ENSP00000262794:D63Y;ENSP00000379199:D63Y;ENSP00000438542:D43Y	ENSP00000262794:D63Y	D	+	1	0	MOV10L1	48872646	0.996000	0.38824	0.041000	0.18516	0.955000	0.61496	4.343000	0.59348	2.431000	0.82371	0.650000	0.86243	GAT	MOV10L1	-	superfamily_NA-bd_OB-fold	ENSG00000073146		0.448	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MOV10L1	HGNC	protein_coding	OTTHUMT00000075009.2	-	0.00	100	0	G	NM_018995		50530519	+1	tier1	-	no_errors	ENST00000262794	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.748	T
MOV10L1	54456	genome.wustl.edu	37	22	50582644	50582644	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr22:50582644G>T	ENST00000262794.5	+	18	2560	c.2477G>T	c.(2476-2478)cGg>cTg	p.R826L	MOV10L1_ENST00000395858.3_Missense_Mutation_p.R826L|MOV10L1_ENST00000540615.1_Missense_Mutation_p.R806L|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395852.1_5'Flank|MOV10L1_ENST00000545383.1_Missense_Mutation_p.R826L	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	826					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		ACCATGGTCCGGGTGAACGCC	0.612																																																	0													85.0	75.0	78.0					22																	50582644		2203	4300	6503	SO:0001583	missense	0			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.2477G>T	22.37:g.50582644G>T	ENSP00000262794:p.Arg826Leu		A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold	p.R826L	ENST00000262794.5	37	c.2477	CCDS14084.1	22	.	.	.	.	.	.	.	.	.	.	G	29.9	5.046868	0.93740	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56	5.52	5.52	0.82312	.	0.048141	0.85682	D	0.000000	D	0.93370	0.7886	M	0.91510	3.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.995;0.996;0.998	D	0.94091	0.7353	10	0.72032	D	0.01	-33.2565	19.8046	0.96525	0.0:0.0:1.0:0.0	.	806;826;826	F5H403;A8MXC6;Q9BXT6	.;.;M10L1_HUMAN	L	826;826;826;806	ENSP00000438978:R826L;ENSP00000262794:R826L;ENSP00000379199:R826L;ENSP00000438542:R806L	ENSP00000262794:R826L	R	+	2	0	MOV10L1	48924771	1.000000	0.71417	0.506000	0.27664	0.735000	0.41995	9.136000	0.94489	2.748000	0.94277	0.655000	0.94253	CGG	MOV10L1	-	superfamily_P-loop_NTPase	ENSG00000073146		0.612	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MOV10L1	HGNC	protein_coding	OTTHUMT00000075009.2	-	0.00	46	0	G	NM_018995		50582644	+1	tier1	-	no_errors	ENST00000262794	ensembl	human	known	74_37	missense	15.79	16	3	SNP	0.764	T
MPDZ	8777	genome.wustl.edu	37	9	13133903	13133903	+	Splice_Site	SNP	T	T	C			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:13133903T>C	ENST00000319217.7	-	32	4631	c.4384A>G	c.(4384-4386)Aca>Gca	p.T1462A	MPDZ_ENST00000381015.4_Splice_Site_p.T1462A|MPDZ_ENST00000546205.1_Splice_Site_p.T1476A|MPDZ_ENST00000541093.1_5'UTR|MPDZ_ENST00000540202.1_5'Flank|MPDZ_ENST00000538841.1_Splice_Site_p.T321A|MPDZ_ENST00000541718.1_Splice_Site_p.T1462A|MPDZ_ENST00000381022.2_Splice_Site_p.T1462A|MPDZ_ENST00000536827.1_Splice_Site_p.T1429A|MPDZ_ENST00000447879.1_Splice_Site_p.T1429A	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1462					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GTTGGCTCTGTCTGACAGAGG	0.353																																																	0													72.0	68.0	70.0					9																	13133903		1849	4104	5953	SO:0001630	splice_region_variant	0			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.4384-1A>G	9.37:g.13133903T>C			A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.T1462A	ENST00000319217.7	37	c.4384		9	.	.	.	.	.	.	.	.	.	.	T	3.342	-0.134296	0.06711	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000438511;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T;T;T	0.13657	2.97;2.92;2.92;2.57;2.8;2.84;2.9;2.95;2.97;2.96	5.68	-1.32	0.09201	PDZ/DHR/GLGF (1);	0.883774	0.09422	N	0.804232	T	0.05502	0.0145	N	0.08118	0	0.80722	D	1	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.04013	0.0;0.0;0.0;0.001;0.0;0.001;0.0	T	0.45483	-0.9258	10	0.08381	T	0.77	.	7.6182	0.28171	0.0:0.5138:0.1008:0.3854	.	1429;321;167;1429;1342;1462;1462	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2;O75970	.;.;.;.;.;.;MPDZ_HUMAN	A	1462;1462;1462;31;398;321;1429;1429;1462;1342;1476	ENSP00000320006:T1462A;ENSP00000439807:T1462A;ENSP00000370410:T1462A;ENSP00000415964:T31A;ENSP00000444230:T398A;ENSP00000444717:T321A;ENSP00000444151:T1429A;ENSP00000415208:T1429A;ENSP00000370403:T1462A;ENSP00000446358:T1476A	ENSP00000320006:T1462A	T	-	1	0	MPDZ	13123903	0.043000	0.20138	0.125000	0.21846	0.007000	0.05969	-0.163000	0.09997	-0.375000	0.07955	-0.993000	0.02533	ACA	MPDZ	-	superfamily_PDZ	ENSG00000107186		0.353	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	-	0.00	73	0	T	NM_003829	Missense_Mutation	13133903	-1	tier1	-	no_errors	ENST00000319217	ensembl	human	known	74_37	missense	15.15	56	10	SNP	0.846	C
MST1R	4486	genome.wustl.edu	37	3	49932735	49932735	+	Nonsense_Mutation	SNP	C	C	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr3:49932735C>A	ENST00000296474.3	-	14	3163	c.3136G>T	c.(3136-3138)Gaa>Taa	p.E1046*	MST1R_ENST00000344206.4_Nonsense_Mutation_p.E997*	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1046					cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		ACACAGGATTCATCTTCACTA	0.547																																																	0													136.0	131.0	133.0					3																	49932735		2203	4300	6503	SO:0001587	stop_gained	0			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.3136G>T	3.37:g.49932735C>A	ENSP00000296474:p.Glu1046*		B5A944|B5A945|B5A946|B5A947	Nonsense_Mutation	SNP	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	p.E1046*	ENST00000296474.3	37	c.3136	CCDS2807.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.051432|6.051432	0.97236|0.97236	.|.	.|.	ENSG00000164078|ENSG00000164078	ENST00000296474;ENST00000344206|ENST00000440292	.|.	.|.	.|.	5.84|5.84	4.96|4.96	0.65561|0.65561	.|.	0.524568|.	0.23908|.	N|.	0.043371|.	.|T	.|0.69780	.|0.3149	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.78949	.|-0.2002	.|4	0.27785|0.87932	T|D	0.31|0	-7.5372|-7.5372	13.9005|13.9005	0.63799|0.63799	0.0:0.927:0.0:0.073|0.0:0.927:0.0:0.073	.|.	.|.	.|.	.|.	X|I	1046;997|66	.|.	ENSP00000296474:E1046X|ENSP00000407926:M1019I	E|M	-|-	1|3	0|0	MST1R|MST1R	49907739|49907739	0.008000|0.008000	0.16893|0.16893	0.019000|0.019000	0.16419|0.16419	0.019000|0.019000	0.09904|0.09904	2.275000|2.275000	0.43399|0.43399	1.468000|1.468000	0.48064|0.48064	0.561000|0.561000	0.74099|0.74099	GAA|ATG	MST1R	-	pirsf_Tyr_kinase_HGF/MSP_rcpt	ENSG00000164078		0.547	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	HGNC	protein_coding	OTTHUMT00000345403.1	-	0.00	93	0	C			49932735	-1	tier1	-	no_errors	ENST00000296474	ensembl	human	known	74_37	nonsense	6.25	60	4	SNP	0.060	A
MUC16	94025	genome.wustl.edu	37	19	9080541	9080541	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:9080541G>T	ENST00000397910.4	-	2	9693	c.9490C>A	c.(9490-9492)Cta>Ata	p.L3164I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3165	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGTCACTAGCGTTCCATCA	0.458																																																	0													137.0	130.0	132.0					19																	9080541		1944	4153	6097	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.9490C>A	19.37:g.9080541G>T	ENSP00000381008:p.Leu3164Ile		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.L3164I	ENST00000397910.4	37	c.9490	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	1.705	-0.500448	0.04291	.	.	ENSG00000181143	ENST00000397910	T	0.02890	4.12	1.12	-0.134	0.13481	.	.	.	.	.	T	0.01421	0.0046	N	0.08118	0	.	.	.	P	0.39094	0.659	B	0.31751	0.135	T	0.45848	-0.9233	8	0.87932	D	0	.	4.8645	0.13602	0.0:0.3944:0.6056:0.0	.	3164	B5ME49	.	I	3164	ENSP00000381008:L3164I	ENSP00000381008:L3164I	L	-	1	2	MUC16	8941541	0.001000	0.12720	0.000000	0.03702	0.035000	0.12851	0.293000	0.19029	-0.002000	0.14469	0.313000	0.20887	CTA	MUC16	-	NULL	ENSG00000181143		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0.00	124	0	G	NM_024690		9080541	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.000	T
LINC01317	104355287	genome.wustl.edu	37	2	33953027	33953027	+	lincRNA	SNP	A	A	G			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:33953027A>G	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							GGTGGTCGTGACGGTTGGGTG	0.637																																																	0																																												0																															2.37:g.33953027A>G				RNA	SNP	-	NULL	ENST00000366209.2	37	NULL		2																																																																																			MYADML	-	-	ENSG00000239649		0.637	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	MYADML	HGNC	lincRNA	OTTHUMT00000325406.1	-	0.00	29	0	A			33953027	-1	tier1	-	no_errors	ENST00000474610	ensembl	human	known	74_37	rna	21.43	11	3	SNP	0.879	G
MYO15A	51168	genome.wustl.edu	37	17	18022244	18022244	+	Frame_Shift_Del	DEL	A	A	-			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr17:18022244delA	ENST00000205890.5	+	2	468	c.130delA	c.(130-132)acafs	p.T44fs		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	44					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCGCGACCGTACACCCAAGAT	0.642																																																	0													41.0	53.0	49.0					17																	18022244		1948	4114	6062	SO:0001589	frameshift_variant	0			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.130delA	17.37:g.18022244delA	ENSP00000205890:p.Thr44fs		B4DFC7	Frame_Shift_Del	DEL	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.T44fs	ENST00000205890.5	37	c.130	CCDS42271.1	17																																																																																			MYO15A	-	NULL	ENSG00000091536		0.642	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1		0.00	90	0	A	NM_016239		18022244	+1	tier1		no_errors	ENST00000205890	ensembl	human	known	74_37	frame_shift_del	10.53	17	2	DEL	0.712	-
MYO18A	399687	genome.wustl.edu	37	17	27417116	27417116	+	Splice_Site	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr17:27417116G>T	ENST00000527372.1	-	37	5569	c.5389C>A	c.(5389-5391)Cta>Ata	p.L1797I	MYO18A_ENST00000533112.1_Splice_Site_p.L1760I|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000531253.1_Splice_Site_p.L1797I|TIAF1_ENST00000408971.2_5'UTR|MYO18A_ENST00000354329.4_Splice_Site_p.L1797I	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1797					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)	p.L1797V(2)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			AGGGCTTGTAGCTAGAGGTGG	0.577																																					Esophageal Squamous(182;472 2015 7001 15270 22562)												2	Substitution - Missense(2)	kidney(2)											30.0	31.0	31.0					17																	27417116		1994	4172	6166	SO:0001630	splice_region_variant	0			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.5389-1C>A	17.37:g.27417116G>T			Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom	p.L1797I	ENST00000527372.1	37	c.5389	CCDS45642.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.47|13.47	2.245331|2.245331	0.39697|0.39697	.|.	.|.	ENSG00000196535|ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428;ENST00000546105|ENST00000527859	T;D;T;T|.	0.83673|.	-0.99;-1.75;-0.99;-0.99|.	5.2|5.2	3.11|3.11	0.35812|0.35812	Myosin tail (1);|.	0.078542|.	0.51477|.	D|.	0.000100|.	T|T	0.55862|0.55862	0.1947|0.1947	L|L	0.49640|0.49640	1.575|1.575	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.18166|.	0.011;0.026;0.026;0.018|.	B;B;B;B|.	0.23419|.	0.046;0.017;0.017;0.039|.	T|T	0.51694|0.51694	-0.8673|-0.8673	10|5	0.18276|.	T|.	0.48|.	.|.	6.5337|6.5337	0.22341|0.22341	0.1521:0.0:0.6936:0.1544|0.1521:0.0:0.6936:0.1544	.|.	1400;1760;1797;1797|.	F8W6Y3;Q92614-3;Q92614-4;Q92614|.	.;.;.;MY18A_HUMAN|.	I|R	1797;1760;1760;1797;1797;693;693;1400;78|59	ENSP00000346291:L1797I;ENSP00000435932:L1760I;ENSP00000434228:L1797I;ENSP00000437073:L1797I|.	ENSP00000346291:L1797I|.	L|S	-|-	1|3	2|2	MYO18A|MYO18A	24441242|24441242	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	2.323000|2.323000	0.43823|0.43823	2.607000|2.607000	0.88179|0.88179	0.655000|0.655000	0.94253|0.94253	CTA|AGC	MYO18A	-	pfam_Myosin_tail	ENSG00000196535		0.577	MYO18A-001	KNOWN	basic|CCDS	protein_coding	MYO18A	HGNC	protein_coding	OTTHUMT00000389396.1		0.00	74	0	G	NM_078471	Missense_Mutation	27417116	-1			no_errors	ENST00000354329	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T
MYPN	84665	genome.wustl.edu	37	10	69970097	69970097	+	Missense_Mutation	SNP	G	G	A	rs372512501		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:69970097G>A	ENST00000358913.5	+	20	4336	c.3848G>A	c.(3847-3849)cGc>cAc	p.R1283H	MYPN_ENST00000354393.2_Missense_Mutation_p.R1008H|MYPN_ENST00000540630.1_Missense_Mutation_p.R1283H	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1283	Interaction with ACTN.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AGTGGCAGTCGCTACGGATCT	0.493																																																	0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	127.0	113.0	118.0		3848	6.2	1.0	10		118	0,8600		0,0,4300	no	missense	MYPN	NM_032578.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1283/1321	69970097	1,13005	2203	4300	6503	SO:0001583	missense	0			AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.3848G>A	10.37:g.69970097G>A	ENSP00000351790:p.Arg1283His		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R1283H	ENST00000358913.5	37	c.3848	CCDS7275.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.715579	0.96830	2.27E-4	0.0	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.59906	0.23;0.27;0.24	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.77157	0.4089	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.981	D;D;P	0.91635	0.998;0.999;0.746	T	0.74737	-0.3564	9	.	.	.	.	19.0403	0.92995	0.0:0.0:1.0:0.0	.	1283;1008;1283	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	H	1008;1008;1283;1283	ENSP00000346369:R1008H;ENSP00000351790:R1283H;ENSP00000441668:R1283H	.	R	+	2	0	MYPN	69640103	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.095000	0.94175	2.937000	0.99478	0.650000	0.86243	CGC	MYPN	-	NULL	ENSG00000138347		0.493	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYPN	HGNC	protein_coding	OTTHUMT00000048307.1	-	0.00	83	0	G	NM_032578		69970097	+1	tier1	-	no_errors	ENST00000358913	ensembl	human	known	74_37	missense	45.61	31	26	SNP	1.000	A
N4BP3	23138	genome.wustl.edu	37	5	177547253	177547253	+	Silent	SNP	G	G	A	rs377627701		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:177547253G>A	ENST00000274605.5	+	3	764	c.405G>A	c.(403-405)gcG>gcA	p.A135A		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	135						cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAAGTCTGGCGTCCCACAAAG	0.682													G|||	1	0.000199681	0.0	0.0	5008	,	,		13875	0.0		0.0	False		,,,				2504	0.001																0								G		0,4406		0,0,2203	38.0	39.0	39.0		405	-10.0	0.1	5		39	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	N4BP3	NM_015111.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		135/545	177547253	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB002339	CCDS34307.1	5q35.3	2012-05-17				ENSG00000145911			29852	protein-coding gene	gene with protein product						9205841, 11717310	Standard	XM_006714834		Approved	LZTS4	uc003mik.1	O15049		ENST00000274605.5:c.405G>A	5.37:g.177547253G>A			B4DIL3|D3DWP3|Q6ZSQ6|Q7Z6I3	Silent	SNP	NULL	p.A135	ENST00000274605.5	37	c.405	CCDS34307.1	5																																																																																			N4BP3	-	NULL	ENSG00000145911		0.682	N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP3	HGNC	protein_coding	OTTHUMT00000373552.2	-	0.00	95	0	G	NM_015111		177547253	+1	tier1	-	no_errors	ENST00000274605	ensembl	human	known	74_37	silent	26.32	14	5	SNP	0.167	A
NAA25	80018	genome.wustl.edu	37	12	112528595	112528595	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr12:112528595G>A	ENST00000261745.4	-	3	466	c.218C>T	c.(217-219)gCc>gTc	p.A73V		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	73						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GGGTTCAAGGGCTGCCACCTC	0.423																																																	0													157.0	141.0	146.0					12																	112528595		2203	4300	6503	SO:0001583	missense	0			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.218C>T	12.37:g.112528595G>A	ENSP00000261745:p.Ala73Val		A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom	p.A73V	ENST00000261745.4	37	c.218	CCDS9159.1	12	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142580	0.37825	.	.	ENSG00000111300	ENST00000261745	T	0.39229	1.09	5.4	4.51	0.55191	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.191847	0.45867	D	0.000337	T	0.28234	0.0697	N	0.16790	0.44	0.42758	D	0.993792	B;B	0.12013	0.001;0.005	B;B	0.06405	0.001;0.002	T	0.04165	-1.0972	10	0.31617	T	0.26	-2.8497	14.3068	0.66389	0.0715:0.0:0.9285:0.0	.	73;73	A8K8X0;Q14CX7	.;NAA25_HUMAN	V	73	ENSP00000261745:A73V	ENSP00000261745:A73V	A	-	2	0	NAA25	111012978	0.999000	0.42202	0.998000	0.56505	0.998000	0.95712	3.671000	0.54576	1.269000	0.44280	0.650000	0.86243	GCC	NAA25	-	pfscan_TPR-contain_dom	ENSG00000111300		0.423	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA25	HGNC	protein_coding	OTTHUMT00000405205.1	-	0.00	101	0	G	NM_024953		112528595	-1	tier1	-	no_errors	ENST00000261745	ensembl	human	known	74_37	missense	6.45	57	4	SNP	1.000	A
NBPF20	100288142	genome.wustl.edu	37	1	148346634	148346635	+	Frame_Shift_Del	DEL	TC	TC	-	rs184507148|rs200609895		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	TC	TC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:148346634_148346635delTC	ENST00000369202.1	-	2	319_320	c.122_123delGA	c.(121-123)agafs	p.R41fs	NBPF20_ENST00000414710.2_Frame_Shift_Del_p.R41fs			Q3BBV1	NBPFK_HUMAN	neuroblastoma breakpoint family, member 20	41						cytoplasm (GO:0005737)				breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						TTACAAAACATCTCTCTTTGAG	0.46																																																	0																																										SO:0001589	frameshift_variant	0				CCDS72856.1	1q21.2	2014-01-16			ENSG00000203832			"""neuroblastoma breakpoint family"""	32000	protein-coding gene	gene with protein product		614007				16079250	Standard	NM_001278267		Approved			Q3BBV1	OTTHUMG00000042439	ENST00000369202.1:c.122_123delGA	1.37:g.148346638_148346639delTC	ENSP00000358203:p.Arg41fs			Frame_Shift_Del	DEL	pfam_NBPF_dom	p.R41fs	ENST00000369202.1	37	c.123_122		1																																																																																			NBPF20	-	NULL	ENSG00000203832		0.460	NBPF20-001	KNOWN	basic|appris_principal	protein_coding	NBPF20	HGNC	protein_coding	OTTHUMT00000100689.2		0.00	365	0	TC			148346635	-1			no_errors	ENST00000369202	ensembl	human	known	74_37	frame_shift_del	7.84	141	12	DEL	0.002:0.002	0
NEK3	4752	genome.wustl.edu	37	13	52718962	52718962	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr13:52718962G>A	ENST00000400357.2	-	8	1961	c.668C>T	c.(667-669)cCg>cTg	p.P223L	NEK3_ENST00000339406.3_Missense_Mutation_p.P223L|NEK3_ENST00000378101.2_Missense_Mutation_p.P223L|NEK3_ENST00000452082.2_Missense_Mutation_p.P244L			P51956	NEK3_HUMAN	NIMA-related kinase 3	223	Interaction with VAV2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		GTAATGAGACGGCAGTGGACT	0.433																																																	0													103.0	108.0	107.0					13																	52718962		1963	4148	6111	SO:0001583	missense	0			AK290259, BC019916	CCDS73576.1	13q14.2-q21.1	2014-07-17	2012-11-15		ENSG00000136098	ENSG00000136098	2.7.11.1		7746	protein-coding gene	gene with protein product	"""serine/threonine-protein kinase NEK3"", ""phosphorylase B kinase kinase"", ""glycogen synthase A kinase"", ""hydroxyalkyl-protein kinase"""	604044	"""NIMA (never in mitosis gene a)-related kinase 3"""			8274451, 7522034	Standard	NM_002498		Approved	HSPK36, MGC29949	uc010tgy.2	P51956	OTTHUMG00000016958	ENST00000400357.2:c.668C>T	13.37:g.52718962G>A	ENSP00000383210:p.Pro223Leu		A8K2J4|Q5TAP2|Q8J023|Q8WUN5	Missense_Mutation	SNP	pfam_Prot_kinase_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_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P244L	ENST00000400357.2	37	c.731	CCDS53871.1	13	.	.	.	.	.	.	.	.	.	.	G	16.65	3.181770	0.57800	.	.	ENSG00000136098	ENST00000339406;ENST00000378101;ENST00000400357;ENST00000452082;ENST00000547422	T;T;T;T;T	0.52526	1.69;1.69;1.69;1.69;0.66	6.02	5.18	0.71444	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70518	0.3233	.	.	.	0.80722	D	1	D;D;D	0.89917	0.991;1.0;1.0	P;D;D	0.97110	0.902;1.0;1.0	T	0.75755	-0.3206	9	0.87932	D	0	.	15.264	0.73646	0.067:0.0:0.933:0.0	.	223;244;217	P51956;Q6ZN64;F8VS47	NEK3_HUMAN;.;.	L	223;223;223;244;217	ENSP00000339429:P223L;ENSP00000367341:P223L;ENSP00000383210:P223L;ENSP00000404197:P244L;ENSP00000448716:P217L	ENSP00000448782:P223L	P	-	2	0	NEK3	51616963	1.000000	0.71417	0.855000	0.33649	0.000000	0.00434	8.424000	0.90267	1.565000	0.49641	-0.229000	0.12294	CCG	NEK3	-	pfam_Prot_kinase_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_dom	ENSG00000136098		0.433	NEK3-002	KNOWN	upstream_ATG|basic|CCDS	protein_coding	NEK3	HGNC	protein_coding	OTTHUMT00000045047.3	-	0.00	59	0	G			52718962	-1	tier1	-	no_errors	ENST00000452082	ensembl	human	known	74_37	missense	12.50	41	6	SNP	0.999	A
NEXN	91624	genome.wustl.edu	37	1	78395077	78395077	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:78395077T>C	ENST00000334785.7	+	9	1125	c.941T>C	c.(940-942)tTt>tCt	p.F314S	NEXN_ENST00000457030.1_Missense_Mutation_p.F300S|NEXN_ENST00000330010.8_Missense_Mutation_p.F250S	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AAACTCAGTTTTgaagaaatg	0.373																																																	0													68.0	66.0	67.0					1																	78395077		1816	4077	5893	SO:0001583	missense	0			AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.941T>C	1.37:g.78395077T>C	ENSP00000333938:p.Phe314Ser			Missense_Mutation	SNP	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	p.F314S	ENST00000334785.7	37	c.941	CCDS41351.1	1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.090592	0.76756	.	.	ENSG00000162614	ENST00000401035;ENST00000457030;ENST00000330010;ENST00000334785;ENST00000440324	T;T;T;T;T	0.78595	-0.68;-0.16;-1.01;-0.91;-1.19	4.98	4.98	0.66077	.	0.000000	0.49305	D	0.000158	T	0.81823	0.4904	M	0.82823	2.61	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.91635	0.998;0.999;0.998;0.998	T	0.82711	-0.0322	10	0.07813	T	0.8	-13.1928	13.5289	0.61611	0.0:0.0:0.0:1.0	.	250;300;314;250	D3DQ79;Q0ZGT2-2;Q0ZGT2;B4DPZ7	.;.;NEXN_HUMAN;.	S	250;300;250;314;300	ENSP00000383814:F250S;ENSP00000388048:F300S;ENSP00000327363:F250S;ENSP00000333938:F314S;ENSP00000411902:F300S	ENSP00000327363:F250S	F	+	2	0	NEXN	78167665	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.475000	0.66787	2.002000	0.58637	0.482000	0.46254	TTT	NEXN	-	NULL	ENSG00000162614		0.373	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEXN	HGNC	protein_coding	OTTHUMT00000097549.1	-	0.00	29	0	T	NM_144573		78395077	+1	tier1	-	no_errors	ENST00000334785	ensembl	human	known	74_37	missense	24.56	43	14	SNP	1.000	C
NIPBL	25836	genome.wustl.edu	37	5	36985957	36985957	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:36985957G>T	ENST00000282516.8	+	10	3174	c.2675G>T	c.(2674-2676)aGt>aTt	p.S892I	NIPBL_ENST00000448238.2_Missense_Mutation_p.S892I|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	892					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGACCTGACAGTCCTCGTGTT	0.378																																																	0													51.0	54.0	53.0					5																	36985957		2203	4300	6503	SO:0001583	missense	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.2675G>T	5.37:g.36985957G>T	ENSP00000282516:p.Ser892Ile		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S892I	ENST00000282516.8	37	c.2675	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	G	12.39	1.924957	0.34002	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.94497	-3.44;-3.44	5.99	5.99	0.97316	.	0.154834	0.64402	D	0.000016	D	0.90352	0.6981	N	0.24115	0.695	0.46499	D	0.999075	B;P	0.37207	0.244;0.587	B;B	0.36289	0.11;0.221	D	0.90741	0.4650	10	0.66056	D	0.02	.	16.6927	0.85326	0.0:0.1292:0.8708:0.0	.	892;892	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	I	892	ENSP00000282516:S892I;ENSP00000406266:S892I	ENSP00000282516:S892I	S	+	2	0	NIPBL	37021714	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.777000	0.68931	2.840000	0.97914	0.655000	0.94253	AGT	NIPBL	-	NULL	ENSG00000164190		0.378	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1		0.00	42	0	G	NM_015384		36985957	+1			no_errors	ENST00000282516	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	T
NIT2	56954	genome.wustl.edu	37	3	100074045	100074045	+	Missense_Mutation	SNP	G	G	T	rs373969032		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr3:100074045G>T	ENST00000394140.4	+	10	855	c.764G>T	c.(763-765)cGc>cTc	p.R255L		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	255	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				asparagine metabolic process (GO:0006528)|glutamine metabolic process (GO:0006541)|oxaloacetate metabolic process (GO:0006107)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	omega-amidase activity (GO:0050152)	p.R255H(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						GCTGAAATACGCCAGCAAATC	0.423																																																	1	Substitution - Missense(1)	large_intestine(1)											77.0	75.0	75.0					3																	100074045		2203	4300	6503	SO:0001583	missense	0			AF284574	CCDS33806.1	3q12.3	2004-07-12			ENSG00000114021	ENSG00000114021			29878	protein-coding gene	gene with protein product						10959838	Standard	NM_020202		Approved		uc003dtv.3	Q9NQR4	OTTHUMG00000159066	ENST00000394140.4:c.764G>T	3.37:g.100074045G>T	ENSP00000377696:p.Arg255Leu		B2R9A3|D3DN47|Q8WUF0	Missense_Mutation	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	p.R255L	ENST00000394140.4	37	c.764	CCDS33806.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.313033	0.95655	.	.	ENSG00000114021	ENST00000394140	T	0.75938	-0.98	5.78	5.78	0.91487	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (3);	0.050778	0.85682	D	0.000000	D	0.92831	0.7720	H	0.99238	4.48	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.95373	0.8466	10	0.87932	D	0	-4.9614	20.0118	0.97458	0.0:0.0:1.0:0.0	.	255	Q9NQR4	NIT2_HUMAN	L	255	ENSP00000377696:R255L	ENSP00000377696:R255L	R	+	2	0	NIT2	101556735	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	8.587000	0.90810	2.733000	0.93635	0.591000	0.81541	CGC	NIT2	-	superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	ENSG00000114021		0.423	NIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIT2	HGNC	protein_coding	OTTHUMT00000353142.2	-	0.00	80	0	G	NM_020202		100074045	+1	tier1	-	no_errors	ENST00000394140	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T
NOMO3	408050	genome.wustl.edu	37	16	16349609	16349609	+	Silent	SNP	C	C	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr16:16349609C>A	ENST00000399336.4	+	10	1168	c.996C>A	c.(994-996)acC>acA	p.T332T	NOMO3_ENST00000263012.6_Silent_p.T332T|NOMO3_ENST00000538468.1_Silent_p.T165T	NM_001004067.3	NP_001004067.1	P69849	NOMO3_HUMAN	NODAL modulator 3	332						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	8				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TCTCCGTCACCGGGAGGGTCT	0.552																																																	0													45.0	58.0	54.0					16																	16349609		2017	4292	6309	SO:0001819	synonymous_variant	0			AK125530	CCDS42123.1	16p13	2004-11-24				ENSG00000103226			25242	protein-coding gene	gene with protein product		609159				15257293	Standard	NM_001004067		Approved		uc002deq.3	P69849	OTTHUMG00000170525	ENST00000399336.4:c.996C>A	16.37:g.16349609C>A				Silent	SNP	pfam_DUF2012,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,superfamily_Collagen-bd_Cna_B-typ_dom	p.T332	ENST00000399336.4	37	c.996	CCDS42123.1	16																																																																																			NOMO3	-	superfamily_CarboxyPept-like_regulatory	ENSG00000103226		0.552	NOMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOMO3	HGNC	protein_coding	OTTHUMT00000409528.13	-	0.00	73	0	C	NM_001004067		16349609	+1	tier1	-	no_errors	ENST00000399336	ensembl	human	known	74_37	silent	11.43	31	4	SNP	0.387	A
NOTCH1	4851	genome.wustl.edu	37	9	139391881	139391881	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:139391881G>T	ENST00000277541.6	-	34	6385	c.6310C>A	c.(6310-6312)Cgc>Agc	p.R2104S		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2104					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGATGCATGCGCTCCTGTGCG	0.672			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0													38.0	41.0	40.0					9																	139391881		2185	4273	6458	SO:0001583	missense	0			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.6310C>A	9.37:g.139391881G>T	ENSP00000277541:p.Arg2104Ser		Q59ED8|Q5SXM3	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.R2104S	ENST00000277541.6	37	c.6310	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152241	0.57259	.	.	ENSG00000148400	ENST00000277541	T	0.52983	0.64	5.42	4.47	0.54385	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.57770	0.2076	L	0.37561	1.115	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59852	-0.7376	10	0.87932	D	0	.	13.2385	0.59983	0.0:0.0:0.7361:0.2639	.	2104	P46531	NOTC1_HUMAN	S	2104	ENSP00000277541:R2104S	ENSP00000277541:R2104S	R	-	1	0	NOTCH1	138511702	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	4.117000	0.57877	2.703000	0.92315	0.561000	0.74099	CGC	NOTCH1	-	superfamily_Ankyrin_rpt-contain_dom,pirsf_Notch,pfscan_Ankyrin_rpt-contain_dom	ENSG00000148400		0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	-	0.00	82	0	G	NM_017617		139391881	-1	tier1	-	no_errors	ENST00000277541	ensembl	human	known	74_37	missense	27.27	8	3	SNP	1.000	T
NOTCH1	4851	genome.wustl.edu	37	9	139400133	139400133	+	Frame_Shift_Del	DEL	G	G	-			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:139400133delG	ENST00000277541.6	-	25	4290	c.4215delC	c.(4213-4215)cccfs	p.P1405fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1405	EGF-like 36. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCTCGGATGTGGGCTCACAGG	0.687			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0													18.0	23.0	21.0					9																	139400133		1901	4102	6003	SO:0001589	frameshift_variant	0			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.4215delC	9.37:g.139400133delG	ENSP00000277541:p.Pro1405fs		Q59ED8|Q5SXM3	Frame_Shift_Del	DEL	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.T1406fs	ENST00000277541.6	37	c.4215	CCDS43905.1	9																																																																																			NOTCH1	-	smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom	ENSG00000148400		0.687	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1		0.00	178	0	G	NM_017617		139400133	-1	tier1		no_errors	ENST00000277541	ensembl	human	known	74_37	frame_shift_del	10.00	18	2	DEL	0.984	-
NRD1	4898	genome.wustl.edu	37	1	52306075	52306075	+	Silent	SNP	T	T	C	rs78724482	byFrequency	TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:52306075T>C	ENST00000354831.7	-	2	642	c.453A>G	c.(451-453)gaA>gaG	p.E151E	NRD1_ENST00000544028.1_Silent_p.E19E|NRD1_ENST00000539524.1_Silent_p.E19E|NRD1_ENST00000352171.7_Silent_p.E151E|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	0	Asp/Glu-rich (highly acidic).|Poly-Glu.				cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						cttcttcttcttcctccacct	0.388																																																	0													165.0	136.0	146.0					1																	52306075		2203	4300	6503	SO:0001819	synonymous_variant	0			X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.453A>G	1.37:g.52306075T>C			A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Silent	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	p.E151	ENST00000354831.7	37	c.453	CCDS559.1	1																																																																																			NRD1	-	superfamily_Metalloenz_LuxS/M16	ENSG00000078618		0.388	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRD1	HGNC	protein_coding	OTTHUMT00000023045.1	-	0.00	15	0	T	NM_002525		52306075	-1	tier1	rs78724482	no_errors	ENST00000354831	ensembl	human	known	74_37	silent	23.53	13	4	SNP	0.094	C
NSFL1C	55968	genome.wustl.edu	37	20	1424391	1424391	+	3'UTR	SNP	C	C	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr20:1424391C>T	ENST00000216879.4	-	0	1983				NSFL1C_ENST00000353088.2_3'UTR|NSFL1C_ENST00000381658.4_3'UTR|NSFL1C_ENST00000350991.4_3'UTR|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000476071.1_3'UTR	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)							chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						GCTGGCTGGGCGGTTATGTTA	0.602																																																	0													45.0	43.0	44.0					20																	1424391		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"""UBX domain containing"""	15912	protein-coding gene	gene with protein product	"""SHP1 homolog (S. cerevisiae)"", ""UBX domain protein 2C"""	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.*3G>A	20.37:g.1424391C>T			A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	RNA	SNP	-	NULL	ENST00000216879.4	37	NULL	CCDS13015.1	20																																																																																			NSFL1C	-	-	ENSG00000088833		0.602	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NSFL1C	HGNC	protein_coding	OTTHUMT00000077525.2	-	0.00	34	0	C	NM_016143		1424391	-1	tier1	-	no_errors	ENST00000461211	ensembl	human	known	74_37	rna	35.29	11	6	SNP	0.000	T
NTM	50863	genome.wustl.edu	37	11	132205821	132205821	+	3'UTR	SNP	T	T	C			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr11:132205821T>C	ENST00000374786.1	+	0	2295				NTM_ENST00000374791.3_3'UTR|NTM_ENST00000474900.1_3'UTR	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin						cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AGTATACTTCTTAACTAGGTT	0.363																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.*781T>C	11.37:g.132205821T>C			A0MTT2|Q6UXJ3|Q86VJ9	RNA	SNP	-	NULL	ENST00000374786.1	37	NULL	CCDS8491.1	11																																																																																			NTM	-	-	ENSG00000182667		0.363	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTM	HGNC	protein_coding	OTTHUMT00000141937.1	-	0.00	76	0	T	NM_016522		132205821	+1	tier1	-	no_errors	ENST00000474900	ensembl	human	known	74_37	rna	17.31	43	9	SNP	1.000	C
NUMB	8650	genome.wustl.edu	37	14	73822341	73822341	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr14:73822341G>T	ENST00000355058.3	-	4	397	c.119C>A	c.(118-120)cCg>cAg	p.P40Q	NUMB_ENST00000454166.4_Missense_Mutation_p.P40Q|NUMB_ENST00000554521.2_Missense_Mutation_p.P40Q|NUMB_ENST00000359560.3_Missense_Mutation_p.P40Q|NUMB_ENST00000559312.1_Missense_Mutation_p.P40Q|NUMB_ENST00000535282.1_Missense_Mutation_p.P40Q|NUMB_ENST00000544991.3_Missense_Mutation_p.P40Q|NUMB_ENST00000557597.1_Missense_Mutation_p.P40Q|NUMB_ENST00000555394.1_Missense_Mutation_p.P40Q|NUMB_ENST00000555738.2_Missense_Mutation_p.P40Q|NUMB_ENST00000554546.1_Missense_Mutation_p.P40Q|NUMB_ENST00000560335.1_Missense_Mutation_p.P40Q|NUMB_ENST00000555238.1_Missense_Mutation_p.P40Q|NUMB_ENST00000356296.4_Missense_Mutation_p.P40Q			P49757	NUMB_HUMAN	numb homolog (Drosophila)	40	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		TACCTTAACCGGGAAGCTACA	0.413																																																	0													97.0	93.0	95.0					14																	73822341		2203	4300	6503	SO:0001583	missense	0			L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"""numb (Drosophila) homolog"", ""chromosome 14 open reading frame 41"""	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.119C>A	14.37:g.73822341G>T	ENSP00000347169:p.Pro40Gln		B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Missense_Mutation	SNP	pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom	p.P40Q	ENST00000355058.3	37	c.119	CCDS32116.1	14	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108007	0.37242	.	.	ENSG00000133961	ENST00000554546;ENST00000356296;ENST00000557597;ENST00000555238;ENST00000355058;ENST00000359560;ENST00000555394;ENST00000544991;ENST00000454166;ENST00000555738;ENST00000554521;ENST00000535282;ENST00000326018;ENST00000555859;ENST00000555307;ENST00000554394;ENST00000555987;ENST00000554818	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.57;2.22;2.22;2.22;2.22	5.28	5.28	0.74379	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.254342	0.39146	N	0.001450	T	0.14657	0.0354	N	0.17474	0.49	0.41782	D	0.989824	B;B;P;B;B;B;B;B;B;B;B	0.37548	0.232;0.01;0.599;0.257;0.009;0.026;0.02;0.011;0.011;0.007;0.034	B;B;B;B;B;B;B;B;B;B;B	0.43508	0.422;0.017;0.42;0.246;0.027;0.075;0.046;0.033;0.021;0.027;0.166	T	0.07252	-1.0782	10	0.36615	T	0.2	-7.9348	12.8103	0.57635	0.0:0.0:0.72:0.28	.	40;40;40;40;40;40;40;40;40;40;40	B1P2N6;B1P2N5;B1P2N8;B1P2N7;G3V3R1;Q86SW5;B2RCI6;P49757-4;P49757-2;P49757-3;P49757	.;.;.;.;.;.;.;.;.;.;NUMB_HUMAN	Q	40	ENSP00000452416:P40Q;ENSP00000348644:P40Q;ENSP00000451117:P40Q;ENSP00000451300:P40Q;ENSP00000347169:P40Q;ENSP00000352563:P40Q;ENSP00000451625:P40Q;ENSP00000446001:P40Q;ENSP00000394025:P40Q;ENSP00000452069:P40Q;ENSP00000450817:P40Q;ENSP00000441258:P40Q;ENSP00000451326:P40Q;ENSP00000452357:P40Q;ENSP00000451374:P40Q;ENSP00000451559:P40Q;ENSP00000451959:P40Q	ENSP00000315193:P40Q	P	-	2	0	NUMB	72892094	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.590000	0.53979	2.738000	0.93877	0.655000	0.94253	CCG	NUMB	-	pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom	ENSG00000133961		0.413	NUMB-201	KNOWN	basic|CCDS	protein_coding	NUMB	HGNC	protein_coding	OTTHUMT00000414416.1	-	0.00	76	0	G			73822341	-1	tier1	-	no_errors	ENST00000355058	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T
OGFOD2	79676	genome.wustl.edu	37	12	123461463	123461463	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr12:123461463G>T	ENST00000228922.7	+	4	381	c.349G>T	c.(349-351)Gtg>Ttg	p.V117L	OGFOD2_ENST00000454694.2_5'UTR|OGFOD2_ENST00000538628.1_5'UTR|ABCB9_ENST00000392439.3_5'Flank|ABCB9_ENST00000542678.1_Intron|ABCB9_ENST00000442028.2_5'Flank|OGFOD2_ENST00000542117.1_3'UTR|OGFOD2_ENST00000545612.1_5'UTR|RP11-197N18.2_ENST00000540866.2_RNA|OGFOD2_ENST00000536150.1_5'UTR|OGFOD2_ENST00000397389.2_Missense_Mutation_p.V57L|OGFOD2_ENST00000538755.1_5'UTR|OGFOD2_ENST00000545317.1_5'UTR			Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2	117							iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	TGAGTACAGCGTGTCCCCAGA	0.652																																																	0													51.0	57.0	55.0					12																	123461463		2106	4223	6329	SO:0001583	missense	0			AK094820	CCDS41855.1	12q24.31	2010-11-23			ENSG00000111325	ENSG00000111325			25823	protein-coding gene	gene with protein product						12477932	Standard	NM_024623		Approved	FLJ13491, FLJ37501	uc001udz.1	Q6N063		ENST00000228922.7:c.349G>T	12.37:g.123461463G>T	ENSP00000228922:p.Val117Leu		B3KT24|Q4KN13|Q6N023|Q9H8K6	Missense_Mutation	SNP	smart_Pro_4_hyd_alph	p.V117L	ENST00000228922.7	37	c.349		12	.	.	.	.	.	.	.	.	.	.	G	4.991	0.184116	0.09495	.	.	ENSG00000111325	ENST00000397389;ENST00000228922;ENST00000537966	D;D	0.85411	-1.98;-1.98	5.3	-2.73	0.05950	.	1.233450	0.05165	N	0.498522	T	0.67822	0.2934	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.21381	0.055;0.001;0.001	B;B;B	0.22880	0.042;0.01;0.003	T	0.54437	-0.8294	10	0.13470	T	0.59	2.9015	12.7296	0.57191	0.7298:0.0:0.2702:0.0	.	98;117;57	B4DZU3;Q6N063;Q6N063-2	.;OGFD2_HUMAN;.	L	57;117;190	ENSP00000380544:V57L;ENSP00000228922:V117L	ENSP00000228922:V117L	V	+	1	0	OGFOD2	122027416	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.884000	0.04166	-0.652000	0.05408	-0.355000	0.07637	GTG	OGFOD2	-	NULL	ENSG00000111325		0.652	OGFOD2-006	KNOWN	basic|appris_principal	protein_coding	OGFOD2	HGNC	protein_coding	OTTHUMT00000400984.1	-	0.00	117	0	G	NM_024623		123461463	+1	tier1	-	no_errors	ENST00000228922	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.000	T
OR1N1	138883	genome.wustl.edu	37	9	125289383	125289383	+	Silent	SNP	G	G	A	rs539467595		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:125289383G>A	ENST00000304880.2	-	1	189	c.190C>T	c.(190-192)Ctg>Ttg	p.L64L		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						ACAAAAGACAGGTTGGCCAAG	0.498																																																	0													85.0	81.0	82.0					9																	125289383		2203	4300	6503	SO:0001819	synonymous_variant	0			U86216	CCDS6844.1	9q34.11	2012-08-09			ENSG00000171505	ENSG00000171505		"""GPCR / Class A : Olfactory receptors"""	8221	protein-coding gene	gene with protein product				OR1N3		9500546	Standard	NM_012363		Approved	OR1-26	uc004bmn.1	Q8NGS0	OTTHUMG00000020608	ENST00000304880.2:c.190C>T	9.37:g.125289383G>A			A3KFM1|O43870|Q6IF16|Q96R93	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L64	ENST00000304880.2	37	c.190	CCDS6844.1	9																																																																																			OR1N1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000171505		0.498	OR1N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1N1	HGNC	protein_coding	OTTHUMT00000053938.1	-	0.00	94	0	G			125289383	-1	tier1	-	no_errors	ENST00000304880	ensembl	human	known	74_37	silent	42.59	31	23	SNP	0.973	A
OR2T7	81458	genome.wustl.edu	37	1	248604893	248604893	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:248604893G>A	ENST00000460972.3	+	1	386	c.386G>A	c.(385-387)cGc>cAc	p.R129H				P0C7T2	OR2T7_HUMAN	olfactory receptor, family 2, subfamily T, member 7	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)										CTCATGAGCCGCAAGATCTGC	0.562																																																	0																																										SO:0001583	missense	0					1q44	2013-09-05		2004-03-10	ENSG00000227152	ENSG00000227152		"""GPCR / Class A : Olfactory receptors"""	15019	protein-coding gene	gene with protein product				OR2T7P			Standard	NG_004272		Approved	OST723		P0C7T2	OTTHUMG00000040449	ENST00000460972.3:c.386G>A	1.37:g.248604893G>A	ENSP00000475521:p.Arg129His			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R129H	ENST00000460972.3	37	c.386		1																																																																																			OR2T7	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000227152		0.562	OR2T7-001	KNOWN	basic|appris_principal	protein_coding	OR2T7	HGNC	protein_coding	OTTHUMT00000097345.3	-	0.00	120	0	G			248604893	+1	tier1	-	no_errors	ENST00000460972	ensembl	human	known	74_37	missense	16.18	57	11	SNP	0.000	A
OSBPL8	114882	genome.wustl.edu	37	12	76783476	76783476	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr12:76783476G>T	ENST00000261183.3	-	12	1780	c.1301C>A	c.(1300-1302)tCt>tAt	p.S434Y	OSBPL8_ENST00000393250.4_Missense_Mutation_p.S392Y|OSBPL8_ENST00000393249.2_Missense_Mutation_p.S392Y	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	434					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						ATCCAGGAAAGAACGGGGTTC	0.363																																																	0													122.0	125.0	124.0					12																	76783476		2203	4300	6503	SO:0001583	missense	0			AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.1301C>A	12.37:g.76783476G>T	ENSP00000261183:p.Ser434Tyr		A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S434Y	ENST00000261183.3	37	c.1301	CCDS31862.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.138199	0.94560	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946	T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.86180	0.5871	H	0.98199	4.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.90746	0.4653	10	0.87932	D	0	-11.8956	19.982	0.97329	0.0:0.0:1.0:0.0	.	409;434	F8VUA7;Q9BZF1	.;OSBL8_HUMAN	Y	392;434;419;392;434;434;409	ENSP00000376939:S392Y;ENSP00000261183:S434Y;ENSP00000376940:S392Y;ENSP00000450238:S434Y;ENSP00000447893:S409Y	ENSP00000261183:S434Y	S	-	2	0	OSBPL8	75307607	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.869000	0.99810	2.737000	0.93849	0.561000	0.74099	TCT	OSBPL8	-	pfam_Oxysterol-bd	ENSG00000091039		0.363	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL8	HGNC	protein_coding	OTTHUMT00000406357.1	-	0.00	56	0	G	NM_020841		76783476	-1	tier1	-	no_errors	ENST00000261183	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T
P4HA2	8974	genome.wustl.edu	37	5	131545994	131545994	+	Missense_Mutation	SNP	C	C	T	rs200355999		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:131545994C>T	ENST00000401867.1	-	7	1260	c.692G>A	c.(691-693)cGc>cAc	p.R231H	P4HA2_ENST00000379100.2_Missense_Mutation_p.R231H|P4HA2_ENST00000379104.2_Missense_Mutation_p.R231H|P4HA2_ENST00000379086.1_Missense_Mutation_p.R231H|P4HA2_ENST00000360568.3_Missense_Mutation_p.R231H|P4HA2_ENST00000166534.4_Missense_Mutation_p.R231H			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	231					peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	GAGCAGGCGGCGGGTGAGCTC	0.597																																					Esophageal Squamous(68;117 1135 17362 19256 34242)												0													122.0	124.0	124.0					5																	131545994		2203	4300	6503	SO:0001583	missense	0			U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"""4-PH alpha 2"", ""collagen prolyl 4-hydroxylase alpha(II)"""	600608	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"""			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.692G>A	5.37:g.131545994C>T	ENSP00000384999:p.Arg231His		D3DQ85|D3DQ86|Q8WWN0	Missense_Mutation	SNP	pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R231H	ENST00000401867.1	37	c.692	CCDS4151.1	5	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816801	0.70912	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100	T;T;T;T;T;T	0.47177	0.86;0.85;0.86;0.85;0.86;0.85	5.78	5.78	0.91487	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.046113	0.85682	D	0.000000	T	0.63757	0.2538	M	0.64997	1.995	0.58432	D	0.999999	D;D	0.71674	0.997;0.998	P;D	0.66847	0.836;0.947	T	0.64198	-0.6464	10	0.56958	D	0.05	-12.9213	13.2363	0.59971	0.0:0.9278:0.0:0.0722	.	231;231	O15460;O15460-2	P4HA2_HUMAN;.	H	231	ENSP00000384999:R231H;ENSP00000368379:R231H;ENSP00000166534:R231H;ENSP00000353772:R231H;ENSP00000368398:R231H;ENSP00000368394:R231H	ENSP00000166534:R231H	R	-	2	0	P4HA2	131573893	0.998000	0.40836	1.000000	0.80357	0.381000	0.30169	3.891000	0.56227	2.724000	0.93272	0.563000	0.77884	CGC	P4HA2	-	pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000072682		0.597	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	P4HA2	HGNC	protein_coding	OTTHUMT00000132653.4	-	0.00	70	0	C	NM_004199		131545994	-1	tier1	rs200355999	no_errors	ENST00000166534	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	T
PAAF1	80227	genome.wustl.edu	37	11	73625472	73625472	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr11:73625472G>A	ENST00000310571.3	+	8	795	c.742G>A	c.(742-744)Gga>Aga	p.G248R	PAAF1_ENST00000535604.1_Missense_Mutation_p.G133R|PAAF1_ENST00000544909.1_Missense_Mutation_p.G249R|PAAF1_ENST00000544552.1_Missense_Mutation_p.G231R|PAAF1_ENST00000376384.5_Missense_Mutation_p.G231R|PAAF1_ENST00000536003.1_Missense_Mutation_p.G231R|PAAF1_ENST00000541951.1_Missense_Mutation_p.G133R	NM_025155.2	NP_079431.1	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	248					viral process (GO:0016032)	proteasome complex (GO:0000502)				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					ACGGGAGGTTGGAACAGAGGC	0.478																																																	0													115.0	97.0	103.0					11																	73625472		2200	4293	6493	SO:0001583	missense	0			BC006142	CCDS8226.1, CCDS58157.1, CCDS58158.1	11q13.4	2013-05-21	2007-08-16	2007-08-16	ENSG00000175575	ENSG00000175575		"""WD repeat domain containing"""	25687	protein-coding gene	gene with protein product			"""WD repeat domain 71"""	WDR71		15831487, 17317272, 17289585	Standard	NM_001267803		Approved	FLJ11848, Rpn14	uc001ouk.2	Q9BRP4	OTTHUMG00000168062	ENST00000310571.3:c.742G>A	11.37:g.73625472G>A	ENSP00000311665:p.Gly248Arg		A6NDR5|B4DPB0|B7ZAS9|Q4G165|Q53HS9|Q7Z500|Q8TBU6|Q9HAB6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G248R	ENST00000310571.3	37	c.742	CCDS8226.1	11	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902556	0.92035	.	.	ENSG00000175575	ENST00000541951;ENST00000310571;ENST00000504441;ENST00000543814;ENST00000535604;ENST00000536003;ENST00000544552;ENST00000546039;ENST00000376384;ENST00000544909	T;T;T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;2.24;1.0;1.0	5.37	5.37	0.77165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.66056	0.2751	M	0.76002	2.32	0.50813	D	0.99989	D;D	0.89917	1.0;0.998	D;P	0.97110	1.0;0.863	T	0.67998	-0.5525	10	0.56958	D	0.05	-9.0385	17.7447	0.88416	0.0:0.0:1.0:0.0	.	231;248	Q9BRP4-2;Q9BRP4	.;PAAF1_HUMAN	R	133;248;231;231;133;231;231;112;231;249	ENSP00000441333:G133R;ENSP00000311665:G248R;ENSP00000439747:G231R;ENSP00000438894:G231R;ENSP00000438789:G133R;ENSP00000438124:G231R;ENSP00000441494:G231R;ENSP00000439877:G112R;ENSP00000365564:G231R;ENSP00000438071:G249R	ENSP00000311665:G248R	G	+	1	0	PAAF1	73303120	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.417000	0.73337	2.538000	0.85594	0.650000	0.86243	GGA	PAAF1	-	superfamily_WD40_repeat_dom	ENSG00000175575		0.478	PAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAAF1	HGNC	protein_coding	OTTHUMT00000397885.1	-	0.00	98	0	G	NM_025155		73625472	+1	tier1	-	no_errors	ENST00000310571	ensembl	human	known	74_37	missense	36.92	41	24	SNP	1.000	A
PBX1	5087	genome.wustl.edu	37	1	164790798	164790798	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:164790798A>G	ENST00000420696.2	+	8	1323	c.1135A>G	c.(1135-1137)Agc>Ggc	p.S379G	PBX1_ENST00000540246.1_Missense_Mutation_p.S274G|PBX1_ENST00000367897.1_Missense_Mutation_p.Q341R|PBX1_ENST00000560641.1_Missense_Mutation_p.S274G|PBX1_ENST00000540236.1_Missense_Mutation_p.S379G|PBX1_ENST00000401534.1_Missense_Mutation_p.Q341R|PBX1_ENST00000559240.1_Missense_Mutation_p.S288G	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	379					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						CCATGTTATCAGCCAGACAGG	0.493			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""																																			Dom	yes		1	1q23	5087	pre-B-cell leukemia transcription factor 1		"""L, M"""	0													137.0	128.0	131.0					1																	164790798		2203	4300	6503	SO:0001583	missense	0			M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"""Homeoboxes / TALE class"""	8632	protein-coding gene	gene with protein product		176310	"""pre-B-cell leukemia transcription factor 1"""				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.1135A>G	1.37:g.164790798A>G	ENSP00000405890:p.Ser379Gly		B4DSC1|F5H4U9|Q5T488	Missense_Mutation	SNP	pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.S379G	ENST00000420696.2	37	c.1135	CCDS1246.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.581|7.581	0.668716|0.668716	0.14776|0.14776	.|.	.|.	ENSG00000185630|ENSG00000185630	ENST00000367897;ENST00000401534|ENST00000420696;ENST00000540236;ENST00000540246	D;D|D;D;D	0.86432|0.88975	-2.12;-2.12|-2.34;-2.38;-2.45	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.58779|0.58779	0.2146|0.2146	N|N	0.04297|0.04297	-0.235|-0.235	.|.	.|.	.|.	B|B;B;B;B	0.09022|0.10296	0.002|0.0;0.001;0.003;0.001	B|B;B;B;B	0.01281|0.10450	0.0|0.001;0.002;0.005;0.001	T|T	0.55661|0.55661	-0.8106|-0.8106	8|9	0.30078|0.02654	T|T	0.28|1	-15.4361|-15.4361	15.1057|15.1057	0.72319|0.72319	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	341|274;379;379;379	Q53YC7|B7Z774;A8K5V0;F5H4U9;P40424	.|.;.;.;PBX1_HUMAN	R|G	341|379;379;274	ENSP00000356872:Q341R;ENSP00000384856:Q341R|ENSP00000405890:S379G;ENSP00000439943:S379G;ENSP00000440869:S274G	ENSP00000356872:Q341R|ENSP00000405890:S379G	Q|S	+|+	2|1	0|0	PBX1|PBX1	163057422|163057422	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.832000|8.832000	0.92079|0.92079	2.044000|2.044000	0.60594|0.60594	0.460000|0.460000	0.39030|0.39030	CAG|AGC	PBX1	-	NULL	ENSG00000185630		0.493	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PBX1	HGNC	protein_coding	OTTHUMT00000082864.4	-	0.00	72	0	A	NM_002585		164790798	+1	tier1	-	no_errors	ENST00000420696	ensembl	human	known	74_37	missense	47.62	22	20	SNP	1.000	G
PBX3	5090	genome.wustl.edu	37	9	128728190	128728190	+	Missense_Mutation	SNP	T	T	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:128728190T>A	ENST00000373489.5	+	9	1309	c.1293T>A	c.(1291-1293)gaT>gaA	p.D431E	PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000342287.5_3'UTR|PBX3_ENST00000447726.2_Missense_Mutation_p.D356E|PBX3_ENST00000373483.2_Missense_Mutation_p.D250E|PBX3_ENST00000373487.4_Missense_Mutation_p.D452E	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	431					adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						TGCACTCGGATACCTCTAACT	0.483																																																	0													160.0	141.0	147.0					9																	128728190		2203	4300	6503	SO:0001583	missense	0				CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"""Homeoboxes / TALE class"""	8634	protein-coding gene	gene with protein product		176312	"""pre-B-cell leukemia transcription factor 3"""			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.1293T>A	9.37:g.128728190T>A	ENSP00000362588:p.Asp431Glu		E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Missense_Mutation	SNP	pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.D431E	ENST00000373489.5	37	c.1293	CCDS6865.1	9	.	.	.	.	.	.	.	.	.	.	T	17.03	3.283917	0.59867	.	.	ENSG00000167081	ENST00000373489;ENST00000373487;ENST00000373483;ENST00000447726	D;T;D;D	0.92099	-2.76;1.24;-2.88;-2.97	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.95310	0.8478	M	0.74258	2.255	0.58432	D	0.999997	D;D	0.67145	0.996;0.969	D;P	0.77557	0.99;0.701	D	0.95483	0.8562	10	0.87932	D	0	.	11.5561	0.50748	0.0:0.0688:0.0:0.9312	.	452;431	Q5JS98;P40426	.;PBX3_HUMAN	E	431;452;250;356	ENSP00000362588:D431E;ENSP00000362586:D452E;ENSP00000362582:D250E;ENSP00000387456:D356E	ENSP00000362582:D250E	D	+	3	2	PBX3	127768011	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.849000	0.62882	2.304000	0.77564	0.528000	0.53228	GAT	PBX3	-	NULL	ENSG00000167081		0.483	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PBX3	HGNC	protein_coding	OTTHUMT00000417765.1	-	0.00	107	0	T			128728190	+1	tier1	-	no_errors	ENST00000373489	ensembl	human	known	74_37	missense	34.72	47	25	SNP	1.000	A
PCDH9	5101	genome.wustl.edu	37	13	67801630	67801630	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr13:67801630G>T	ENST00000377865.2	-	1	1077	c.943C>A	c.(943-945)Cag>Aag	p.Q315K	PCDH9_ENST00000328454.5_Missense_Mutation_p.Q315K|PCDH9_ENST00000544246.1_Missense_Mutation_p.Q315K|PCDH9_ENST00000456367.1_Missense_Mutation_p.Q315K|PCDH9_ENST00000377861.3_Missense_Mutation_p.Q315K			Q9HC56	PCDH9_HUMAN	protocadherin 9	315	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AAGGACCTCTGAACTGTAATC	0.483																																																	0													88.0	89.0	89.0					13																	67801630		2203	4300	6503	SO:0001583	missense	0			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.943C>A	13.37:g.67801630G>T	ENSP00000367096:p.Gln315Lys		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q315K	ENST00000377865.2	37	c.943	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	G	0.388	-0.924993	0.02377	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	6.17	6.17	0.99709	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.23806	0.0576	N	0.01789	-0.72	0.80722	D	1	B;B;B;B	0.11235	0.002;0.004;0.003;0.004	B;B;B;B	0.11329	0.004;0.006;0.003;0.006	T	0.33954	-0.9848	10	0.02654	T	1	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	315;315;315;315	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	K	315	ENSP00000442186:Q315K;ENSP00000367096:Q315K;ENSP00000401699:Q315K;ENSP00000332060:Q315K;ENSP00000367092:Q315K	ENSP00000332060:Q315K	Q	-	1	0	PCDH9	66699631	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.863000	0.87023	2.941000	0.99782	0.655000	0.94253	CAG	PCDH9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000184226		0.483	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	-	0.00	74	0	G	NM_203487		67801630	-1	tier1	-	no_errors	ENST00000377865	ensembl	human	known	74_37	missense	18.03	50	11	SNP	1.000	T
PCDH9	5101	genome.wustl.edu	37	13	67802221	67802221	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr13:67802221G>A	ENST00000377865.2	-	1	486	c.352C>T	c.(352-354)Ctc>Ttc	p.L118F	PCDH9_ENST00000328454.5_Missense_Mutation_p.L118F|PCDH9_ENST00000544246.1_Missense_Mutation_p.L118F|PCDH9_ENST00000456367.1_Missense_Mutation_p.L118F|PCDH9_ENST00000377861.3_Missense_Mutation_p.L118F			Q9HC56	PCDH9_HUMAN	protocadherin 9	118	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TCATTGGGGAGGATCACCACC	0.398																																																	0													82.0	82.0	82.0					13																	67802221		2203	4300	6503	SO:0001583	missense	0			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.352C>T	13.37:g.67802221G>A	ENSP00000367096:p.Leu118Phe		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L118F	ENST00000377865.2	37	c.352	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	G	13.67	2.307819	0.40795	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39	5.94	5.94	0.96194	Cadherin (3);	0.000000	0.85682	D	0.000000	T	0.46132	0.1377	M	0.76328	2.33	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;1.0;1.0	T	0.19943	-1.0290	10	0.51188	T	0.08	.	20.3591	0.98849	0.0:0.0:1.0:0.0	.	118;118;118;118	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	F	118	ENSP00000442186:L118F;ENSP00000367096:L118F;ENSP00000401699:L118F;ENSP00000332060:L118F;ENSP00000367092:L118F	ENSP00000332060:L118F	L	-	1	0	PCDH9	66700222	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.793000	0.75130	2.816000	0.96949	0.561000	0.74099	CTC	PCDH9	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000184226		0.398	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	-	0.00	29	0	G	NM_203487		67802221	-1	tier1	-	no_errors	ENST00000377865	ensembl	human	known	74_37	missense	12.50	35	5	SNP	1.000	A
PCDHA4	56144	genome.wustl.edu	37	5	140187432	140187432	+	Silent	SNP	C	C	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:140187432C>T	ENST00000530339.1	+	1	660	c.660C>T	c.(658-660)ccC>ccT	p.P220P	PCDHA4_ENST00000512229.2_Silent_p.P220P|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Silent_p.P220P	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	220	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGCAAACCCGAGTTGACTG	0.438																																																	0													59.0	63.0	61.0					5																	140187432		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.660C>T	5.37:g.140187432C>T			O75285|Q2M253	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P220	ENST00000530339.1	37	c.660	CCDS54916.1	5																																																																																			PCDHA4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204967		0.438	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA4	HGNC	protein_coding	OTTHUMT00000372864.2	-	0.00	86	0	C	NM_018907		140187432	+1	tier1	-	no_errors	ENST00000530339	ensembl	human	known	74_37	silent	36.59	26	15	SNP	0.001	T
PCDHAC1	56135	genome.wustl.edu	37	5	140307146	140307146	+	Silent	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:140307146G>T	ENST00000253807.2	+	1	669	c.669G>T	c.(667-669)gtG>gtT	p.V223V	PCDHAC1_ENST00000409700.3_Silent_p.V223V|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	223	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATCATTGTGGTGGACACAA	0.582																																																	0													42.0	46.0	45.0					5																	140307146		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.669G>T	5.37:g.140307146G>T			Q9Y5F5|Q9Y5I5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V223	ENST00000253807.2	37	c.669	CCDS4241.1	5																																																																																			PCDHAC1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000248383		0.582	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHAC1	HGNC	protein_coding	OTTHUMT00000251798.1	-	0.00	54	0	G	NM_018898		140307146	+1	tier1	-	no_errors	ENST00000253807	ensembl	human	known	74_37	silent	16.00	21	4	SNP	0.998	T
PCSK5	5125	genome.wustl.edu	37	9	78686660	78686660	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:78686660G>T	ENST00000545128.1	+	7	1278	c.740G>T	c.(739-741)gGa>gTa	p.G247V	PCSK5_ENST00000376752.4_Missense_Mutation_p.G247V|PCSK5_ENST00000376767.3_Missense_Mutation_p.G247V	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	247	Peptidase S8.				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)	p.G247E(3)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ATGCTGGACGGAGATGTCACG	0.522																																																	3	Substitution - Missense(3)	lung(3)											143.0	140.0	141.0					9																	78686660		2203	4300	6503	SO:0001583	missense	0				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.740G>T	9.37:g.78686660G>T	ENSP00000446280:p.Gly247Val		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel	p.G247V	ENST00000545128.1	37	c.740	CCDS55320.1	9	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788617	0.90367	.	.	ENSG00000099139	ENST00000545128;ENST00000376767;ENST00000396108;ENST00000376752	D;D;D	0.88664	-2.41;-2.41;-2.41	5.66	5.66	0.87406	.	.	.	.	.	D	0.97343	0.9131	H	0.99104	4.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98727	1.0711	9	0.87932	D	0	.	19.7365	0.96208	0.0:0.0:1.0:0.0	.	247;247	Q92824-2;B1AMG5	.;.	V	247	ENSP00000446280:G247V;ENSP00000365958:G247V;ENSP00000365943:G247V	ENSP00000365943:G247V	G	+	2	0	PCSK5	77876480	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.476000	0.97823	2.672000	0.90937	0.655000	0.94253	GGA	PCSK5	-	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom	ENSG00000099139		0.522	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK5	HGNC	protein_coding			0.00	46	0	G			78686660	+1			no_errors	ENST00000545128	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T
PDE4B	5142	genome.wustl.edu	37	1	66838008	66838008	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:66838008G>T	ENST00000329654.4	+	17	2045	c.1858G>T	c.(1858-1860)Gac>Tac	p.D620Y	PDE4B_ENST00000371045.5_Missense_Mutation_p.D448Y|PDE4B_ENST00000480109.2_Missense_Mutation_p.D387Y|PDE4B_ENST00000371049.3_Missense_Mutation_p.D620Y|PDE4B_ENST00000423207.2_Missense_Mutation_p.D605Y	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	620					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	TGGTTTCATCGACTACATTGT	0.413																																																	0													139.0	141.0	140.0					1																	66838008		2203	4300	6503	SO:0001583	missense	0			L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.1858G>T	1.37:g.66838008G>T	ENSP00000332116:p.Asp620Tyr		A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.D620Y	ENST00000329654.4	37	c.1858	CCDS632.1	1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673151	0.67928	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049;ENST00000423207;ENST00000371045;ENST00000480109	T;T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7	4.96	4.96	0.65561	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.87265	0.6134	M	0.93328	3.405	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.995;0.991;0.996;0.995;0.995	D	0.89956	0.4083	10	0.87932	D	0	.	18.3428	0.90311	0.0:0.0:1.0:0.0	.	387;605;490;610;620	A5YW33;Q07343-3;Q13945;Q59GM8;Q07343	.;.;.;.;PDE4B_HUMAN	Y	620;620;620;605;448;387	ENSP00000332116:D620Y;ENSP00000342637:D620Y;ENSP00000360088:D620Y;ENSP00000392947:D605Y;ENSP00000360084:D448Y;ENSP00000432592:D387Y	ENSP00000332116:D620Y	D	+	1	0	PDE4B	66610596	1.000000	0.71417	1.000000	0.80357	0.433000	0.31745	9.539000	0.98076	2.734000	0.93682	0.591000	0.81541	GAC	PDE4B	-	pfam_PDEase_catalytic_dom	ENSG00000184588		0.413	PDE4B-001	KNOWN	basic|CCDS	protein_coding	PDE4B	HGNC	protein_coding	OTTHUMT00000025188.3		0.00	54	0	G	NM_002600		66838008	+1			no_errors	ENST00000329654	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T
PDZD2	23037	genome.wustl.edu	37	5	32074051	32074051	+	Missense_Mutation	SNP	G	G	A	rs384728	byFrequency	TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:32074051G>A	ENST00000438447.1	+	18	3227	c.2839G>A	c.(2839-2841)Gga>Aga	p.G947R	PDZD2_ENST00000282493.3_Missense_Mutation_p.G947R			O15018	PDZD2_HUMAN	PDZ domain containing 2	947					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.G947R(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CAGTCTCCCCGGAAGCCCACA	0.587																																																	1	Substitution - Missense(1)	large_intestine(1)											54.0	60.0	58.0					5																	32074051		2203	4300	6503	SO:0001583	missense	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.2839G>A	5.37:g.32074051G>A	ENSP00000402033:p.Gly947Arg		Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G947R	ENST00000438447.1	37	c.2839	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266746	0.80358	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.09817	2.94;2.94	5.78	5.78	0.91487	.	0.000000	0.50627	D	0.000118	T	0.20373	0.0490	L	0.29908	0.895	0.39286	D	0.964657	D;D	0.89917	1.0;1.0	D;D	0.85130	0.95;0.997	T	0.01140	-1.1439	10	0.54805	T	0.06	.	10.8624	0.46833	0.0847:0.0:0.9153:0.0	.	773;947	B4E3P2;O15018	.;PDZD2_HUMAN	R	947;749;947	ENSP00000402033:G947R;ENSP00000282493:G947R	ENSP00000282493:G947R	G	+	1	0	PDZD2	32109808	1.000000	0.71417	0.994000	0.49952	0.867000	0.49689	3.961000	0.56759	2.724000	0.93272	0.563000	0.77884	GGA	PDZD2	-	NULL	ENSG00000133401		0.587	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	-	0.00	59	0	G			32074051	+1	tier1	-	no_errors	ENST00000282493	ensembl	human	known	74_37	missense	56.67	13	17	SNP	0.981	A
PEX5L	51555	genome.wustl.edu	37	3	179592121	179592121	+	Silent	SNP	C	C	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr3:179592121C>T	ENST00000467460.1	-	7	1050	c.720G>A	c.(718-720)ccG>ccA	p.P240P	PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000392649.3_Silent_p.P132P|PEX5L_ENST00000263962.8_Silent_p.P238P|PEX5L_ENST00000465751.1_Silent_p.P216P|PEX5L_ENST00000464614.1_Silent_p.P132P|PEX5L_ENST00000468741.1_Silent_p.P48P|PEX5L_ENST00000476138.1_Silent_p.P197P|PEX5L_ENST00000485199.1_Silent_p.P205P|PEX5L_ENST00000472994.1_Silent_p.P181P	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	240					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TTACCTGAGTCGGAGCCACTA	0.383																																																	0													93.0	90.0	91.0					3																	179592121		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.720G>A	3.37:g.179592121C>T			B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Silent	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.P240	ENST00000467460.1	37	c.720	CCDS3236.1	3																																																																																			PEX5L	-	NULL	ENSG00000114757		0.383	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PEX5L	HGNC	protein_coding	OTTHUMT00000348577.1	-	0.00	85	0	C	NM_016559		179592121	-1	tier1	-	no_errors	ENST00000467460	ensembl	human	known	74_37	silent	50.00	29	29	SNP	0.739	T
PFKP	5214	genome.wustl.edu	37	10	3176766	3176766	+	Frame_Shift_Del	DEL	G	G	-	rs200067284		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:3176766delG	ENST00000381125.4	+	20	2190	c.2114delG	c.(2113-2115)cggfs	p.R705fs	PFKP_ENST00000381072.1_Frame_Shift_Del_p.R123fs|PFKP_ENST00000381075.2_Frame_Shift_Del_p.R697fs	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	705	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		AAGGAGGCCCGGGGCAGAGGT	0.567																																																	0													83.0	96.0	92.0					10																	3176766		2203	4300	6503	SO:0001589	frameshift_variant	0			AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.2114delG	10.37:g.3176766delG	ENSP00000370517:p.Arg705fs		B3KS15|Q5VSR7|Q5VSR8	Frame_Shift_Del	DEL	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.G706fs	ENST00000381125.4	37	c.2114	CCDS7059.1	10																																																																																			PFKP	-	superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk	ENSG00000067057		0.567	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKP	HGNC	protein_coding	OTTHUMT00000046454.1		0.00	42	0	G	NM_002627		3176766	+1	tier1		no_errors	ENST00000381125	ensembl	human	known	74_37	frame_shift_del	7.41	25	2	DEL	0.000	-
PHF10	55274	genome.wustl.edu	37	6	170114892	170114892	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr6:170114892C>A	ENST00000339209.4	-	7	863	c.740G>T	c.(739-741)cGa>cTa	p.R247L	PHF10_ENST00000366780.4_Missense_Mutation_p.R245L|PHF10_ENST00000464779.1_5'Flank	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	247	SAY.				nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	npBAF complex (GO:0071564)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		GACCTTTGTTCGCTCTGTTGG	0.408																																																	0													184.0	174.0	177.0					6																	170114892		2203	4300	6503	SO:0001583	missense	0			AF338735	CCDS5308.2, CCDS5309.2	6q27	2014-05-13			ENSG00000130024	ENSG00000130024		"""Zinc fingers, PHD-type"""	18250	protein-coding gene	gene with protein product		613069				11827455	Standard	NM_018288		Approved	FLJ10975, XAP135, BAF45a	uc011egy.2	Q8WUB8	OTTHUMG00000016058	ENST00000339209.4:c.740G>T	6.37:g.170114892C>A	ENSP00000341805:p.Arg247Leu		Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.R247L	ENST00000339209.4	37	c.740	CCDS5308.2	6	.	.	.	.	.	.	.	.	.	.	C	12.23	1.876763	0.33162	.	.	ENSG00000130024	ENST00000366780;ENST00000339209	D;D	0.88201	-2.34;-2.35	5.62	5.62	0.85841	.	0.544945	0.17530	N	0.170911	T	0.71099	0.3300	N	0.12182	0.205	0.47308	D	0.999387	B;B;B	0.09022	0.0;0.002;0.002	B;B;B	0.06405	0.001;0.002;0.001	T	0.65903	-0.6055	10	0.37606	T	0.19	-14.889	13.9092	0.63855	0.152:0.848:0.0:0.0	.	159;245;247	Q5T069;Q8WUB8-2;Q8WUB8	.;.;PHF10_HUMAN	L	245;247	ENSP00000355743:R245L;ENSP00000341805:R247L	ENSP00000341805:R247L	R	-	2	0	PHF10	169856817	0.569000	0.26643	0.973000	0.42090	0.998000	0.95712	1.690000	0.37711	2.795000	0.96236	0.655000	0.94253	CGA	PHF10	-	NULL	ENSG00000130024		0.408	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHF10	HGNC	protein_coding	OTTHUMT00000346732.1	-	0.00	116	0	C	NM_018288		170114892	-1	tier1	-	no_errors	ENST00000339209	ensembl	human	known	74_37	missense	5.19	72	4	SNP	0.974	A
PHYH	5264	genome.wustl.edu	37	10	13322988	13322988	+	Silent	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:13322988G>A	ENST00000263038.4	-	8	1009	c.951C>T	c.(949-951)agC>agT	p.S317S	PHYH_ENST00000396920.3_Silent_p.S300S|PHYH_ENST00000396913.2_Silent_p.S217S	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	317					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TCAAGTTCACGCTATTTTCAG	0.373																																																	0													155.0	140.0	145.0					10																	13322988		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"""Refsum disease"", ""phytanoyl-CoA dioxygenase"""	602026	"""phytanoyl-CoA hydroxylase (Refsum disease)"", ""phytanoyl-CoA hydroxylase"""			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.951C>T	10.37:g.13322988G>A			A8MTS8|B1ALH5	Silent	SNP	pfam_Phytyl_CoA_dOase	p.S317	ENST00000263038.4	37	c.951	CCDS7097.1	10																																																																																			PHYH	-	NULL	ENSG00000107537		0.373	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHYH	HGNC	protein_coding	OTTHUMT00000046845.2	-	0.00	80	0	G			13322988	-1	tier1	-	no_errors	ENST00000263038	ensembl	human	known	74_37	silent	8.11	67	6	SNP	0.000	A
PIP	5304	genome.wustl.edu	37	7	142832372	142832372	+	Nonsense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr7:142832372G>T	ENST00000291009.3	+	2	221	c.181G>T	c.(181-183)Gaa>Taa	p.E61*		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	61					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of gene expression (GO:0010628)|proteolysis (GO:0006508)|regulation of immune system process (GO:0002682)|retina homeostasis (GO:0001895)	apical plasma membrane (GO:0016324)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	actin binding (GO:0003779)|aspartic-type endopeptidase activity (GO:0004190)|glycoprotein binding (GO:0001948)|IgG binding (GO:0019864)|protein dimerization activity (GO:0046983)	p.E61*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		AGTTCAAACAGAATTGAAAGA	0.378																																																	1	Substitution - Nonsense(1)	large_intestine(1)											59.0	54.0	56.0					7																	142832372		2203	4299	6502	SO:0001587	stop_gained	0				CCDS34768.1	7q34	2013-09-19			ENSG00000159763	ENSG00000159763			8993	protein-coding gene	gene with protein product	"""prolactin-inducible protein"""	176720				2727805, 1955075	Standard	NM_002652		Approved	GCDFP-15, GCDFP15, GPIP4	uc003wcf.1	P12273	OTTHUMG00000152635	ENST00000291009.3:c.181G>T	7.37:g.142832372G>T	ENSP00000291009:p.Glu61*		A0A963|A0A9C3|A0A9F3|A4D2I1	Nonsense_Mutation	SNP	pfam_SV_autoAg,pirsf_SV_autoAg	p.E61*	ENST00000291009.3	37	c.181	CCDS34768.1	7	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312045	0.40895	.	.	ENSG00000159763	ENST00000291009	.	.	.	4.55	-0.609	0.11608	.	0.979395	0.08363	N	0.957405	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	4.501	0.11863	0.2837:0.3277:0.3886:0.0	.	.	.	.	X	61	.	ENSP00000291009:E61X	E	+	1	0	PIP	142542494	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.735000	0.04888	-0.215000	0.10063	-0.142000	0.14014	GAA	PIP	-	pfam_SV_autoAg,pirsf_SV_autoAg	ENSG00000159763		0.378	PIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIP	HGNC	protein_coding	OTTHUMT00000327089.1	-	0.00	61	0	G	NM_002652		142832372	+1	tier1	-	no_errors	ENST00000291009	ensembl	human	known	74_37	nonsense	5.88	64	4	SNP	0.000	T
PITPNC1	26207	genome.wustl.edu	37	17	65628318	65628318	+	Nonsense_Mutation	SNP	C	C	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr17:65628318C>A	ENST00000581322.1	+	6	426	c.426C>A	c.(424-426)tgC>tgA	p.C142*	PITPNC1_ENST00000299954.9_Nonsense_Mutation_p.C142*|PITPNC1_ENST00000580974.1_Nonsense_Mutation_p.C142*|PITPNC1_ENST00000335257.6_Nonsense_Mutation_p.C142*			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	142					phospholipid transport (GO:0015914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			ATATTGCCTGCGATGAAATTC	0.388																																																	0													111.0	106.0	108.0					17																	65628318		1910	4135	6045	SO:0001587	stop_gained	0			AF171102	CCDS58587.1, CCDS58588.1	17q24.3	2008-02-05							21045	protein-coding gene	gene with protein product		605134				10531358	Standard	NM_012417		Approved	RDGBB1, RDGBB, RDGB-BETA	uc002jgc.4	Q9UKF7		ENST00000581322.1:c.426C>A	17.37:g.65628318C>A	ENSP00000464006:p.Cys142*		A8K473|J3QR20|Q96I07	Nonsense_Mutation	SNP	pfam_PI_transfer,prints_PI_transfer	p.C142*	ENST00000581322.1	37	c.426	CCDS58588.1	17	.	.	.	.	.	.	.	.	.	.	C	40	8.111226	0.98659	.	.	ENSG00000154217	ENST00000335257;ENST00000299954	.	.	.	5.58	-5.07	0.02938	.	0.183799	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	0.9268	14.1656	0.65475	0.0:0.3245:0.0:0.6755	.	.	.	.	X	142	.	ENSP00000299954:C142X	C	+	3	2	PITPNC1	63058780	0.154000	0.22792	0.975000	0.42487	0.966000	0.64601	-0.615000	0.05597	-0.702000	0.05056	-0.339000	0.08088	TGC	PITPNC1	-	pfam_PI_transfer	ENSG00000154217		0.388	PITPNC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PITPNC1	HGNC	protein_coding	OTTHUMT00000447194.1		0.00	67	0	C	NM_012417		65628318	+1			no_errors	ENST00000335257	ensembl	human	known	74_37	nonsense	5.13	37	2	SNP	0.877	A
PLCG2	5336	genome.wustl.edu	37	16	81962194	81962194	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr16:81962194G>T	ENST00000359376.3	+	24	2760	c.2546G>T	c.(2545-2547)tGc>tTc	p.C849F		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	849					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GGGTCTCTTTGCAGAGGAATA	0.443																																																	0													186.0	178.0	181.0					16																	81962194		1918	4139	6057	SO:0001583	missense	0				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.2546G>T	16.37:g.81962194G>T	ENSP00000352336:p.Cys849Phe		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain	p.C849F	ENST00000359376.3	37	c.2546	CCDS42204.1	16	.	.	.	.	.	.	.	.	.	.	G	17.30	3.353637	0.61293	.	.	ENSG00000197943	ENST00000359376	T	0.65549	-0.16	5.43	5.43	0.79202	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);Src homology-3 domain (1);Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.75443	0.3850	L	0.50333	1.59	0.58432	D	0.999993	D	0.76494	0.999	D	0.85130	0.997	T	0.73421	-0.3988	10	0.39692	T	0.17	.	18.835	0.92159	0.0:0.0:1.0:0.0	.	849	P16885	PLCG2_HUMAN	F	849	ENSP00000352336:C849F	ENSP00000352336:C849F	C	+	2	0	PLCG2	80519695	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.552000	0.60747	2.531000	0.85337	0.591000	0.81541	TGC	PLCG2	-	superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_SH3_domain,smart_Pleckstrin_homology,pirsf_PLC-gamma	ENSG00000197943		0.443	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCG2	HGNC	protein_coding	OTTHUMT00000432429.1	-	0.00	80	0	G			81962194	+1	tier1	-	no_errors	ENST00000359376	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	T
PLCL1	5334	genome.wustl.edu	37	2	198950712	198950712	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:198950712G>T	ENST00000428675.1	+	2	2869	c.2471G>T	c.(2470-2472)cGg>cTg	p.R824L	PLCL1_ENST00000437704.2_Missense_Mutation_p.R726L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	824					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)	CCTGGATATCGGCATGTTCCC	0.453																																																	0													208.0	183.0	191.0					2																	198950712		2203	4300	6503	SO:0001583	missense	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.2471G>T	2.37:g.198950712G>T	ENSP00000402861:p.Arg824Leu		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.R824L	ENST00000428675.1	37	c.2471	CCDS2326.2	2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977884	0.74360	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.15256	2.44;2.44	5.5	5.5	0.81552	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.099179	0.43416	D	0.000565	T	0.47655	0.1457	M	0.83603	2.65	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73380	0.98;0.98	T	0.42531	-0.9446	9	.	.	.	.	19.5916	0.95514	0.0:0.0:1.0:0.0	.	824;750	Q15111;B4DYZ4	PLCL1_HUMAN;.	L	824;726	ENSP00000402861:R824L;ENSP00000414138:R726L	.	R	+	2	0	PLCL1	198658957	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.643000	0.98464	2.861000	0.98227	0.655000	0.94253	CGG	PLCL1	-	superfamily_C2_dom,smart_C2_dom,prints_Pinositol_PLipase_C	ENSG00000115896		0.453	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL1	HGNC	protein_coding	OTTHUMT00000340210.1		0.00	78	0	G	NM_006226		198950712	+1			no_errors	ENST00000428675	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T
PLEKHG4	25894	genome.wustl.edu	37	16	67319366	67319366	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr16:67319366G>T	ENST00000360461.5	+	13	4904	c.2369G>T	c.(2368-2370)tGc>tTc	p.C790F	PLEKHG4_ENST00000379344.3_Missense_Mutation_p.C790F|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.C790F|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.C709F	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	790	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GACTTCCACTGCCACTTCTTC	0.632																																																	0													74.0	79.0	77.0					16																	67319366		2198	4300	6498	SO:0001583	missense	0			AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.2369G>T	16.37:g.67319366G>T	ENSP00000353646:p.Cys790Phe		Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.C790F	ENST00000360461.5	37	c.2369	CCDS32466.1	16	.	.	.	.	.	.	.	.	.	.	G	8.620	0.891189	0.17613	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	T;T;T;T	0.62788	0.0;0.0;0.0;0.0	4.91	-1.76	0.08006	Dbl homology (DH) domain (5);	0.567638	0.13717	N	0.367715	T	0.43233	0.1238	L	0.46157	1.445	0.24908	N	0.992067	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.23833	-1.0177	10	0.17832	T	0.49	.	1.8977	0.03261	0.2784:0.1272:0.4632:0.1311	.	709;790	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	F	790;790;790;709	ENSP00000353646:C790F;ENSP00000401118:C790F;ENSP00000368649:C790F;ENSP00000398030:C709F	ENSP00000353646:C790F	C	+	2	0	PLEKHG4	65876867	0.978000	0.34361	0.208000	0.23602	0.992000	0.81027	1.192000	0.32150	-0.650000	0.05423	0.561000	0.74099	TGC	PLEKHG4	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000196155		0.632	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4	HGNC	protein_coding	OTTHUMT00000421395.2	-	0.00	86	0	G	NM_015432		67319366	+1	tier1	-	no_errors	ENST00000360461	ensembl	human	known	74_37	missense	17.65	13	3	SNP	0.849	T
PLIN3	10226	genome.wustl.edu	37	19	4847712	4847712	+	Silent	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:4847712G>T	ENST00000221957.4	-	6	1001	c.825C>A	c.(823-825)gtC>gtA	p.V275V	PLIN3_ENST00000585479.1_Silent_p.V275V|PLIN3_ENST00000592528.1_Silent_p.V263V	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	275			V -> A (in dbSNP:rs9973235). {ECO:0000269|PubMed:10393528, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9590177, ECO:0000269|PubMed:9874244, ECO:0000269|Ref.4, ECO:0000269|Ref.6}.		vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|membrane (GO:0016020)				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	CCAGGCTTAGGACCTGCGACA	0.652																																																	0													21.0	18.0	19.0					19																	4847712		2198	4299	6497	SO:0001819	synonymous_variant	0			AF051314	CCDS12137.1, CCDS59337.1, CCDS59338.1	19p13.3	2009-08-12	2009-08-12	2009-08-12		ENSG00000105355		"""Perilipins"""	16893	protein-coding gene	gene with protein product	"""cargo selection protein (mannose 6 phosphate receptor binding protein)"", ""placental protein 17"", ""MPR-BINDING PROTEIN, 47-KD"""	602702	"""mannose-6-phosphate receptor binding protein 1"""	M6PRBP1		9590177, 6856484, 19638644	Standard	NM_005817		Approved	TIP47, PP17	uc002mbj.2	O60664		ENST00000221957.4:c.825C>A	19.37:g.4847712G>T			A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Silent	SNP	pfam_Perilipin,pirsf_Perilipin	p.V275	ENST00000221957.4	37	c.825	CCDS12137.1	19																																																																																			PLIN3	-	pfam_Perilipin,pirsf_Perilipin	ENSG00000105355		0.652	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLIN3	HGNC	protein_coding	OTTHUMT00000450436.1		0.00	262	0	G	NM_005817		4847712	-1			no_errors	ENST00000221957	ensembl	human	known	74_37	silent	6.15	61	4	SNP	0.088	T
PNPLA6	10908	genome.wustl.edu	37	19	7622101	7622101	+	Missense_Mutation	SNP	C	C	G			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:7622101C>G	ENST00000221249.6	+	30	3645	c.3214C>G	c.(3214-3216)Ctg>Gtg	p.L1072V	PNPLA6_ENST00000414982.3_Missense_Mutation_p.L1120V|PNPLA6_ENST00000600737.1_Missense_Mutation_p.L1110V|PNPLA6_ENST00000545201.2_Missense_Mutation_p.L1045V|PNPLA6_ENST00000450331.3_Missense_Mutation_p.L1072V	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1111	Patatin.				angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GTCGGGCTACCTGCCCCCGCT	0.667																																																	0													61.0	54.0	56.0					19																	7622101		2203	4299	6502	SO:0001583	missense	0			AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.3214C>G	19.37:g.7622101C>G	ENSP00000221249:p.Leu1072Val		A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.L1120V	ENST00000221249.6	37	c.3358	CCDS32891.1	19	.	.	.	.	.	.	.	.	.	.	c	14.43	2.533731	0.45073	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	4.09	4.09	0.47781	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.101398	0.42548	D	0.000690	T	0.81128	0.4758	M	0.77313	2.365	0.54753	D	0.999989	P;P;P;P	0.44986	0.78;0.739;0.739;0.847	B;B;B;P	0.49561	0.431;0.305;0.305;0.615	T	0.83162	-0.0098	10	0.72032	D	0.01	.	9.1514	0.36965	0.2173:0.7827:0.0:0.0	.	1111;1045;1110;1072	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	V	1072;1045;1120;1072	ENSP00000221249:L1072V;ENSP00000443323:L1045V;ENSP00000407509:L1120V;ENSP00000394348:L1072V	ENSP00000221249:L1072V	L	+	1	2	PNPLA6	7528101	1.000000	0.71417	1.000000	0.80357	0.376000	0.30014	3.053000	0.49901	2.123000	0.65237	0.484000	0.47621	CTG	PNPLA6	-	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	ENSG00000032444		0.667	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PNPLA6	HGNC	protein_coding	OTTHUMT00000459275.1		0.00	108	0	C	NM_006702		7622101	+1			no_errors	ENST00000414982	ensembl	human	known	74_37	missense	25.00	6	2	SNP	1.000	G
POP4	10775	genome.wustl.edu	37	19	30101445	30101445	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:30101445C>T	ENST00000585603.1	+	3	2492	c.190C>T	c.(190-192)Cac>Tac	p.H64Y	POP4_ENST00000591824.1_3'UTR|POP4_ENST00000392279.3_Intron|POP4_ENST00000221770.3_Intron			O95707	RPP29_HUMAN	processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae)	64					mRNA cleavage (GO:0006379)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)|ribonuclease P complex (GO:0030677)	ribonuclease P activity (GO:0004526)|ribonuclease P RNA binding (GO:0033204)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|lung(4)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			CTTCACCCGCCACAAGCGCAA	0.622											OREG0025393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(89;1165 1449 14085 34436 43672)												0													40.0	45.0	44.0					19																	30101445		2203	4300	6503	SO:0001583	missense	0			BC006098	CCDS12416.1	19q13.11	2012-05-21				ENSG00000105171			30081	protein-coding gene	gene with protein product		606114				10352175, 10024167	Standard	NM_006627		Approved	RPP29	uc002nsf.2	O95707		ENST00000585603.1:c.190C>T	19.37:g.30101445C>T	ENSP00000465213:p.His64Tyr	814	Q5XKL7|Q6FHW9|Q9UQQ3	Missense_Mutation	SNP	pfam_RNase_P/MRP_p29,superfamily_Rof/RNase_P-like,smart_RNase_P/MRP_p29,pirsf_RNase_P/MRP_p29-subunit	p.H64Y	ENST00000585603.1	37	c.190	CCDS12416.1	19	.	.	.	.	.	.	.	.	.	.	C	9.419	1.082509	0.20309	.	.	ENSG00000105171	ENST00000221770	.	.	.	5.55	1.77	0.24775	.	0.436768	0.27016	N	0.021355	T	0.24851	0.0603	N	0.22421	0.69	0.22811	N	0.99871	B	0.17465	0.022	B	0.09377	0.004	T	0.17561	-1.0365	9	0.59425	D	0.04	-5.4399	6.4214	0.21746	0.448:0.4623:0.0:0.0897	.	64	O95707	RPP29_HUMAN	Y	64	.	ENSP00000221770:H64Y	H	+	1	0	POP4	34793285	0.018000	0.18449	0.271000	0.24616	0.165000	0.22458	2.809000	0.47971	0.797000	0.33971	0.585000	0.79938	CAC	POP4	-	pirsf_RNase_P/MRP_p29-subunit	ENSG00000105171		0.622	POP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POP4	HGNC	protein_coding	OTTHUMT00000458710.1	-	0.00	161	0	C	NM_006627		30101445	+1	tier1	-	no_errors	ENST00000585603	ensembl	human	known	74_37	missense	17.14	29	6	SNP	0.031	T
PPP1R9B	84687	genome.wustl.edu	37	17	48226983	48226983	+	Missense_Mutation	SNP	T	T	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr17:48226983T>A	ENST00000316878.6	-	3	892	c.890A>T	c.(889-891)aAg>aTg	p.K297M	PPP1R9B_ENST00000501501.2_5'UTR	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	297	Interacts with D(2) dopamine receptor. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to morphine (GO:0071315)|dendrite development (GO:0016358)|filopodium assembly (GO:0046847)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of cell proliferation (GO:0042127)|regulation of exit from mitosis (GO:0007096)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of protein phosphorylation (GO:0001932)|RNA splicing (GO:0008380)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|protein phosphatase type 1 complex (GO:0000164)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						CTCCACCGGCTTAATCTTGCG	0.736																																																	0													3.0	4.0	4.0					17																	48226983		1783	3877	5660	SO:0001583	missense	0			AJ401189	CCDS74102.1	17q21.33	2013-01-31	2011-10-04	2001-07-02	ENSG00000108819	ENSG00000108819		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9298	protein-coding gene	gene with protein product	"""spinophilin"", ""Neurabin-2"""	603325	"""protein phosphatase 1, regulatory subunit 9B, spinophilin"", ""protein phosphatase 1, regulatory (inhibitor) subunit 9B"""	PPP1R6, PPP1R9		9275233	Standard	NM_032595		Approved	Spn, SPINO	uc002iqh.4	Q96SB3	OTTHUMG00000162008	ENST00000316878.6:c.890A>T	17.37:g.48226983T>A	ENSP00000475417:p.Lys297Met		Q8TCR9	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.K297M	ENST00000316878.6	37	c.890		17																																																																																			PPP1R9B	-	NULL	ENSG00000108819		0.736	PPP1R9B-201	KNOWN	basic|appris_principal	protein_coding	PPP1R9B	HGNC	protein_coding		-	0.00	38	0	T	NM_032595		48226983	-1	tier1	-	no_errors	ENST00000316878	ensembl	human	known	74_37	missense	100.00	0	2	SNP	1.000	A
PPRC1	23082	genome.wustl.edu	37	10	103908158	103908158	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:103908158G>T	ENST00000278070.2	+	10	4469	c.4430G>T	c.(4429-4431)cGa>cTa	p.R1477L	PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000413464.2_Missense_Mutation_p.R1213L|PPRC1_ENST00000370012.1_Missense_Mutation_p.R444L	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1477	Arg-rich.|Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GGACGTTCTCGAAGATGCtct	0.547																																																	0													188.0	127.0	148.0					10																	103908158		2203	4300	6503	SO:0001583	missense	0			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4430G>T	10.37:g.103908158G>T	ENSP00000278070:p.Arg1477Leu		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R1477L	ENST00000278070.2	37	c.4430	CCDS7529.1	10	.	.	.	.	.	.	.	.	.	.	g	14.70	2.612290	0.46631	.	.	ENSG00000148840	ENST00000278070;ENST00000413464;ENST00000370012	T;T;T	0.33865	1.39;1.39;1.39	5.34	5.34	0.76211	.	0.179090	0.33712	N	0.004631	T	0.46795	0.1411	N	0.19112	0.55	0.37167	D	0.902883	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75484	0.967;0.986;0.967	T	0.52381	-0.8583	10	0.45353	T	0.12	.	18.3851	0.90464	0.0:0.0:1.0:0.0	.	1213;1357;1477	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	L	1477;1213;444	ENSP00000278070:R1477L;ENSP00000399743:R1213L;ENSP00000359029:R444L	ENSP00000278070:R1477L	R	+	2	0	PPRC1	103898148	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.002000	0.63952	2.657000	0.90304	0.478000	0.44815	CGA	PPRC1	-	NULL	ENSG00000148840		0.547	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPRC1	HGNC	protein_coding	OTTHUMT00000050021.1		0.00	61	0	G	NM_015062		103908158	+1			no_errors	ENST00000278070	ensembl	human	known	74_37	missense	8.11	34	3	SNP	0.997	T
PRAMEF11	440560	genome.wustl.edu	37	1	12887175	12887175	+	Missense_Mutation	SNP	G	G	A	rs199614619		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:12887175G>A	ENST00000535591.1	-	3	877	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	228					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TGGAGGCAGCGCAGCTTGAGG	0.527													.|||	1	0.000199681	0.0008	0.0	5008	,	,		21176	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001583	missense	0			AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.682C>T	1.37:g.12887175G>A	ENSP00000439551:p.Arg228Cys			Missense_Mutation	SNP	NULL	p.R228C	ENST00000535591.1	37	c.682	CCDS53268.1	1	.	.	.	.	.	.	.	.	.	.	.	1.269	-0.613593	0.03690	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.53640	0.61;0.61	1.48	-2.96	0.05547	.	1.511700	0.03844	N	0.271170	T	0.28400	0.0702	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14337	-1.0476	10	0.40728	T	0.16	.	6.1412	0.20261	0.0:0.5341:0.2829:0.183	.	228	O60813	PRA11_HUMAN	C	228;269;228	ENSP00000439551:R228C;ENSP00000391839:R228C	ENSP00000328783:R269C	R	-	1	0	PRAMEF11	12809762	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.803000	0.04540	-2.154000	0.00792	-0.723000	0.03601	CGC	PRAMEF11	-	NULL	ENSG00000204513		0.527	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF11	HGNC	protein_coding		-	0.00	284	0	G	XM_496341		12887175	-1	tier1	rs199614619	no_errors	ENST00000535591	ensembl	human	known	74_37	missense	31.25	143	65	SNP	0.000	A
PREX1	57580	genome.wustl.edu	37	20	47251238	47251238	+	Nonsense_Mutation	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr20:47251238G>A	ENST00000371941.3	-	33	4265	c.4243C>T	c.(4243-4245)Cag>Tag	p.Q1415*	PREX1_ENST00000396220.1_Nonsense_Mutation_p.Q1415*	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1415					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TCGTCCAGCTGCTTAAAGGAG	0.582																																																	0													148.0	106.0	120.0					20																	47251238		2203	4300	6503	SO:0001587	stop_gained	0			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.4243C>T	20.37:g.47251238G>A	ENSP00000361009:p.Gln1415*		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Nonsense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.Q1415*	ENST00000371941.3	37	c.4243	CCDS13410.1	20	.	.	.	.	.	.	.	.	.	.	G	44	10.764849	0.99463	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	.	.	.	4.9	4.9	0.64082	.	0.000000	0.52532	U	0.000074	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	18.104	0.89515	0.0:0.0:1.0:0.0	.	.	.	.	X	1415	.	ENSP00000361009:Q1415X	Q	-	1	0	PREX1	46684645	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.011000	0.64011	2.245000	0.73994	0.561000	0.74099	CAG	PREX1	-	NULL	ENSG00000124126		0.582	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PREX1	HGNC	protein_coding	OTTHUMT00000079623.1	-	0.00	59	0	G	NM_020820		47251238	-1	tier1	-	no_errors	ENST00000371941	ensembl	human	known	74_37	nonsense	26.00	37	13	SNP	1.000	A
PRIMA1	145270	genome.wustl.edu	37	14	94187869	94187869	+	Frame_Shift_Del	DEL	T	T	-			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr14:94187869delT	ENST00000393140.1	-	5	485	c.383delA	c.(382-384)aatfs	p.N128fs	PRIMA1_ENST00000393143.1_Frame_Shift_Del_p.N128fs|PRIMA1_ENST00000316227.3_3'UTR	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	128					establishment of localization in cell (GO:0051649)|neurotransmitter catabolic process (GO:0042135)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|synapse (GO:0045202)				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		GCTGGTGCCATTTTCGTCTTT	0.562																																																	0													116.0	85.0	95.0					14																	94187869		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS9912.1	14q32.13	2008-08-29			ENSG00000175785	ENSG00000175785			18319	protein-coding gene	gene with protein product	"""membrane anchor of acetylcholinesterase"""	613851				11804574	Standard	NM_178013		Approved	PRIMA	uc001ybw.1	Q86XR5	OTTHUMG00000141313	ENST00000393140.1:c.383delA	14.37:g.94187869delT	ENSP00000376848:p.Asn128fs		Q86XR6	Frame_Shift_Del	DEL	NULL	p.N128fs	ENST00000393140.1	37	c.383	CCDS9912.1	14																																																																																			PRIMA1	-	NULL	ENSG00000175785		0.562	PRIMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRIMA1	HGNC	protein_coding	OTTHUMT00000280658.1		0.00	66	0	T	NM_178013		94187869	-1	tier1		no_errors	ENST00000393140	ensembl	human	known	74_37	frame_shift_del	11.11	24	3	DEL	0.976	-
CERS3	204219	genome.wustl.edu	37	15	101088125	101088126	+	5'Flank	INS	-	-	TT	rs532048470|rs574236631|rs111634080	byFrequency	TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr15:101088125_101088126insTT	ENST00000560944.1	-	0	0				RP11-526I2.5_ENST00000602585.1_lincRNA			Q8IU89	CERS3_HUMAN	ceramide synthase 3						ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										ACATGCTACAGTTTTTTTTTTC	0.347																																																	0																																										SO:0001631	upstream_gene_variant	0				CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"""Homeoboxes / CERS class"""	23752	protein-coding gene	gene with protein product		615276	"""LAG1 longevity assurance homolog 3 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 3"""	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568		15.37:g.101088134_101088135dupTT	Exception_encountered		Q8NE64|Q8NEN6	RNA	INS	-	NULL	ENST00000560944.1	37	NULL		15																																																																																			RP11-526I2.5	-	-	ENSG00000270127		0.347	CERS3-009	KNOWN	basic	processed_transcript	PRKXP1	Clone_based_vega_gene	protein_coding	OTTHUMT00000417720.1		0.00	26	0	-	NM_178842		101088126	-1	tier1		no_errors	ENST00000602585	ensembl	human	known	74_37	rna	9.68	28	3	INS	0.000:0.000	TT
PROSER1	80209	genome.wustl.edu	37	13	39584326	39584326	+	3'UTR	SNP	A	A	G			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr13:39584326A>G	ENST00000352251.3	-	0	4844				PROSER1_ENST00000484434.3_5'UTR|PROSER1_ENST00000350125.3_3'UTR	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1																		ACTGTTAAAAACTAACCATAC	0.279																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.*1176T>C	13.37:g.39584326A>G			A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	RNA	SNP	-	NULL	ENST00000352251.3	37	NULL	CCDS9368.2	13																																																																																			PROSER1	-	-	ENSG00000120685		0.279	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PROSER1	HGNC	protein_coding	OTTHUMT00000044607.5	-	0.00	31	0	A	NM_025138		39584326	-1	tier1	-	no_errors	ENST00000484434	ensembl	human	known	74_37	rna	36.62	45	26	SNP	1.000	G
PSPH	5723	genome.wustl.edu	37	7	56088896	56088896	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr7:56088896G>T	ENST00000395471.3	-	4	815	c.10C>A	c.(10-12)Cac>Aac	p.H4N	PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Missense_Mutation_p.H4N			P78330	SERB_HUMAN	phosphoserine phosphatase	4					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AGCTCTGAGTGGGAGACCATC	0.393																																																	0													63.0	52.0	56.0					7																	56088896		2203	4300	6503	SO:0001583	missense	0			Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.10C>A	7.37:g.56088896G>T	ENSP00000378854:p.His4Asn		B2RCR5|Q7Z3S5	Missense_Mutation	SNP	pfam_HAD-like_dom,pfam_Pyrimidine_nucleotidase_eu,pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,tigrfam_SerB,tigrfam_HAD-SF_hydro_IB_PSP-like	p.H4N	ENST00000395471.3	37	c.10	CCDS5522.1	7	.	.	.	.	.	.	.	.	.	.	G	12.73	2.024972	0.35701	.	.	ENSG00000146733	ENST00000275605;ENST00000395471;ENST00000421626;ENST00000419984;ENST00000421312;ENST00000424596	D;D;D;T;T	0.82081	-1.57;-1.57;-1.57;-1.03;-1.03	5.5	4.6	0.57074	.	0.315505	0.34386	N	0.004015	T	0.66799	0.2826	N	0.08118	0	0.25119	N	0.990652	B;B	0.09022	0.002;0.001	B;B	0.01281	0.0;0.0	T	0.48636	-0.9018	10	0.16420	T	0.52	-5.8266	14.6423	0.68734	0.0:0.0:0.8535:0.1465	.	4;4	Q53EY1;P78330	.;SERB_HUMAN	N	4	ENSP00000275605:H4N;ENSP00000378854:H4N;ENSP00000398653:H4N;ENSP00000399660:H4N;ENSP00000390952:H4N	ENSP00000275605:H4N	H	-	1	0	PSPH	56056390	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	6.763000	0.74955	1.288000	0.44600	0.591000	0.81541	CAC	PSPH	-	tigrfam_SerB	ENSG00000146733		0.393	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PSPH	HGNC	protein_coding	OTTHUMT00000343304.1	-	0.00	72	0	G	NM_004577		56088896	-1	tier1	-	no_errors	ENST00000275605	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T
RABGAP1	23637	genome.wustl.edu	37	9	125777872	125777872	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:125777872G>T	ENST00000373647.4	+	12	1734	c.1600G>T	c.(1600-1602)Gca>Tca	p.A534S		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	534					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						CAAAGAATGTGCAGAAAAAAT	0.338																																																	0													100.0	102.0	102.0					9																	125777872		2203	4300	6503	SO:0001583	missense	0			AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.1600G>T	9.37:g.125777872G>T	ENSP00000362751:p.Ala534Ser		B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.A534S	ENST00000373647.4	37	c.1600	CCDS6848.2	9	.	.	.	.	.	.	.	.	.	.	G	8.444	0.851423	0.17034	.	.	ENSG00000011454	ENST00000373647	T	0.69561	-0.41	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.41627	0.1167	N	0.03948	-0.315	0.80722	D	1	B	0.12630	0.006	B	0.09377	0.004	T	0.44034	-0.9354	10	0.05959	T	0.93	-16.7048	18.3181	0.90227	0.0:0.0:1.0:0.0	.	534	Q9Y3P9	RBGP1_HUMAN	S	534	ENSP00000362751:A534S	ENSP00000362751:A534S	A	+	1	0	RABGAP1	124817693	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.237000	0.78164	2.612000	0.88384	0.655000	0.94253	GCA	RABGAP1	-	NULL	ENSG00000011454		0.338	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGAP1	HGNC	protein_coding	OTTHUMT00000053976.3	-	0.00	46	0	G	NM_012197		125777872	+1	tier1	-	no_errors	ENST00000373647	ensembl	human	known	74_37	missense	5.10	93	5	SNP	1.000	T
RABGAP1	23637	genome.wustl.edu	37	9	125827718	125827718	+	Missense_Mutation	SNP	A	A	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:125827718A>T	ENST00000373647.4	+	14	2020	c.1886A>T	c.(1885-1887)gAt>gTt	p.D629V	RABGAP1_ENST00000493854.1_3'UTR|RABGAP1_ENST00000373643.5_5'UTR	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	629	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						GATGGACAAGATTCCTTATAT	0.393																																																	0													83.0	85.0	85.0					9																	125827718		2203	4300	6503	SO:0001583	missense	0			AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.1886A>T	9.37:g.125827718A>T	ENSP00000362751:p.Asp629Val		B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.D629V	ENST00000373647.4	37	c.1886	CCDS6848.2	9	.	.	.	.	.	.	.	.	.	.	A	27.7	4.859287	0.91433	.	.	ENSG00000011454	ENST00000373647	T	0.11495	2.77	5.65	5.65	0.86999	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.16300	0.0392	L	0.49455	1.56	0.80722	D	1	B	0.32893	0.389	B	0.38264	0.269	T	0.01326	-1.1384	10	0.72032	D	0.01	-20.1331	15.8569	0.78987	1.0:0.0:0.0:0.0	.	629	Q9Y3P9	RBGP1_HUMAN	V	629	ENSP00000362751:D629V	ENSP00000362751:D629V	D	+	2	0	RABGAP1	124867539	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.957000	0.93082	2.140000	0.66376	0.533000	0.62120	GAT	RABGAP1	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000011454		0.393	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGAP1	HGNC	protein_coding	OTTHUMT00000053976.3	-	0.00	74	0	A	NM_012197		125827718	+1	tier1	-	no_errors	ENST00000373647	ensembl	human	known	74_37	missense	29.85	47	20	SNP	1.000	T
RALGAPA1	253959	genome.wustl.edu	37	14	36096989	36096989	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr14:36096989G>T	ENST00000389698.3	-	33	5036	c.4646C>A	c.(4645-4647)cCt>cAt	p.P1549H	RALGAPA1_ENST00000258840.6_Missense_Mutation_p.P1596H|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.P1549H|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.P1562H	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1549	Minimal domain that binds to TCF3/E12. {ECO:0000250}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.P1549L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AAAGAGTTCAGGAGAAAGTTC	0.418																																																	2	Substitution - Missense(2)	lung(2)											36.0	36.0	36.0					14																	36096989		2202	4294	6496	SO:0001583	missense	0			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.4646C>A	14.37:g.36096989G>T	ENSP00000374348:p.Pro1549His		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom	p.P1596H	ENST00000389698.3	37	c.4787	CCDS32065.1	14	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054694	0.75960	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892	D;D;D;D;D;D	0.96992	-3.46;-3.46;-3.47;-4.2;-3.46;-3.47	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.97782	0.9272	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;0.994	D;D;D;P	0.97110	1.0;0.959;0.995;0.827	D	0.98055	1.0390	10	0.62326	D	0.03	-14.7119	19.8741	0.96863	0.0:0.0:1.0:0.0	.	1596;1562;1549;1549	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	H	1549;1549;1549;1596;187;1562;1596	ENSP00000374348:P1549H;ENSP00000302647:P1549H;ENSP00000258840:P1596H;ENSP00000451133:P187H;ENSP00000371803:P1562H;ENSP00000451877:P1596H	ENSP00000258840:P1596H	P	-	2	0	RALGAPA1	35166740	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.747000	0.98863	2.761000	0.94854	0.655000	0.94253	CCT	RALGAPA1	-	NULL	ENSG00000174373		0.418	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	RALGAPA1	HGNC	protein_coding	OTTHUMT00000409829.1		0.00	54	0	G	XM_210022		36096989	-1			no_errors	ENST00000258840	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T
RECK	8434	genome.wustl.edu	37	9	36085367	36085367	+	Intron	SNP	G	G	C			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:36085367G>C	ENST00000377966.3	+	8	1203				RECK_ENST00000479053.1_3'UTR	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs						blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TATAAAAACTGACTGATTGAC	0.393																																																	0																																										SO:0001627	intron_variant	0			E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.637+1808G>C	9.37:g.36085367G>C			B2RNS1|Q5W0K6|Q8WX37	RNA	SNP	-	NULL	ENST00000377966.3	37	NULL	CCDS6597.1	9																																																																																			RECK	-	-	ENSG00000122707		0.393	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECK	HGNC	protein_coding	OTTHUMT00000052409.1	-	0.00	46	0	G			36085367	+1	tier1	-	no_errors	ENST00000479053	ensembl	human	known	74_37	rna	32.26	21	10	SNP	0.020	C
RGPD4	285190	genome.wustl.edu	37	2	108488029	108488029	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:108488029A>C	ENST00000408999.3	+	20	3646	c.3569A>C	c.(3568-3570)aAg>aCg	p.K1190T	RGPD4_ENST00000354986.4_Missense_Mutation_p.K1190T	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1190					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AGAGCTGCCAAGTTAATACAG	0.383																																																	0													1.0	1.0	1.0					2																	108488029		187	464	651	SO:0001583	missense	0			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.3569A>C	2.37:g.108488029A>C	ENSP00000386810:p.Lys1190Thr		B9A029	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.K1190T	ENST00000408999.3	37	c.3569	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	12.41	1.929340	0.34096	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.40756	1.02;1.03	2.33	2.33	0.28932	.	.	.	.	.	T	0.30103	0.0754	L	0.29908	0.895	0.25285	N	0.989407	P	0.52061	0.95	B	0.43052	0.406	T	0.06972	-1.0797	9	0.26408	T	0.33	-24.4961	9.2036	0.37275	1.0:0.0:0.0:0.0	.	1190	Q7Z3J3	RGPD4_HUMAN	T	1190;1190;948	ENSP00000347081:K1190T;ENSP00000386810:K1190T	ENSP00000347081:K1190T	K	+	2	0	RGPD4	107854461	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	5.088000	0.64486	1.072000	0.40860	0.136000	0.15936	AAG	RGPD4	-	NULL	ENSG00000196862		0.383	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	-	0.00	116	0	A	XM_496581		108488029	+1	tier1	-	no_errors	ENST00000354986	ensembl	human	known	74_37	missense	27.91	61	24	SNP	0.986	C
RMI1	80010	genome.wustl.edu	37	9	86617475	86617475	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:86617475G>T	ENST00000325875.3	+	3	1906	c.1574G>T	c.(1573-1575)gGt>gTt	p.G525V		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	525					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)		p.G525V(1)		biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TCAAGTTCTGGTGGTATTTGG	0.378																																																	1	Substitution - Missense(1)	stomach(1)											193.0	192.0	192.0					9																	86617475		2203	4300	6503	SO:0001583	missense	0			AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"""BLM-Associated Polypeptide, 75 kDa"""	610404	"""chromosome 9 open reading frame 76"", ""RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"""	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.1574G>T	9.37:g.86617475G>T	ENSP00000317039:p.Gly525Val		Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	pfam_DUF1767	p.G525V	ENST00000325875.3	37	c.1574	CCDS6669.1	9	.	.	.	.	.	.	.	.	.	.	G	13.78	2.340294	0.41398	.	.	ENSG00000178966	ENST00000325875	T	0.35236	1.32	5.29	3.4	0.38934	.	0.404947	0.28114	N	0.016541	T	0.22936	0.0554	L	0.43152	1.355	0.52501	D	0.999958	P	0.41784	0.762	B	0.32022	0.139	T	0.03514	-1.1029	9	.	.	.	-0.0382	7.5394	0.27729	0.1316:0.0:0.7166:0.1518	.	525	Q9H9A7	RMI1_HUMAN	V	525	ENSP00000317039:G525V	.	G	+	2	0	RMI1	85807295	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.615000	0.46368	1.315000	0.45114	0.563000	0.77884	GGT	RMI1	-	NULL	ENSG00000178966		0.378	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RMI1	HGNC	protein_coding	OTTHUMT00000052870.1		0.00	32	0	G	NM_024945		86617475	+1			no_errors	ENST00000325875	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	T
RNF220	55182	genome.wustl.edu	37	1	45116421	45116421	+	Nonsense_Mutation	SNP	G	G	T	rs201065980		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:45116421G>T	ENST00000355387.2	+	15	2125	c.1675G>T	c.(1675-1677)Gga>Tga	p.G559*	RNF220_ENST00000443020.2_Nonsense_Mutation_p.G346*|TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000372244.3_Intron|RNF220_ENST00000361799.2_Nonsense_Mutation_p.G559*|TMEM53_ENST00000372243.3_Intron|RNF220_ENST00000372247.2_Nonsense_Mutation_p.G559*|TMEM53_ENST00000476724.1_5'Flank|RNF220_ENST00000480686.1_3'UTR			Q5VTB9	RN220_HUMAN	ring finger protein 220	559					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CACAGCGCCCGGAGACCTGCG	0.632																																																	0													125.0	122.0	123.0					1																	45116421		2203	4300	6503	SO:0001587	stop_gained	0			AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.1675G>T	1.37:g.45116421G>T	ENSP00000347548:p.Gly559*		B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Nonsense_Mutation	SNP	superfamily_Peptidase_M20_dimer,pfscan_Znf_RING	p.G559*	ENST00000355387.2	37	c.1675	CCDS510.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.278148	0.98740	.	.	ENSG00000187147	ENST00000355387;ENST00000361799;ENST00000453887;ENST00000372247;ENST00000443020;ENST00000372248	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	19.0668	0.93114	0.0:0.0:1.0:0.0	.	.	.	.	X	559;559;559;559;346;302	.	ENSP00000347548:G559X	G	+	1	0	RNF220	44889008	1.000000	0.71417	0.966000	0.40874	0.942000	0.58702	8.896000	0.92521	2.757000	0.94681	0.462000	0.41574	GGA	RNF220	-	NULL	ENSG00000187147		0.632	RNF220-001	KNOWN	basic|CCDS	protein_coding	RNF220	HGNC	protein_coding	OTTHUMT00000020683.4	-	0.00	30	0	G	NM_018150		45116421	+1	tier1	-	no_errors	ENST00000355387	ensembl	human	known	74_37	nonsense	16.67	15	3	SNP	1.000	T
RSRC2	65117	genome.wustl.edu	37	12	122990142	122990142	+	Nonsense_Mutation	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr12:122990142G>A	ENST00000331738.7	-	10	1382	c.1237C>T	c.(1237-1239)Caa>Taa	p.Q413*	RSRC2_ENST00000354654.2_Nonsense_Mutation_p.Q365*|RSRC2_ENST00000392442.2_5'UTR	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	413							poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		GTGTGGGTTTGTGATCTTGCC	0.398																																																	0													197.0	163.0	175.0					12																	122990142		2203	4300	6503	SO:0001587	stop_gained	0			AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.1237C>T	12.37:g.122990142G>A	ENSP00000330188:p.Gln413*		Q6N040|Q6NW16|Q9H864	Nonsense_Mutation	SNP	NULL	p.Q413*	ENST00000331738.7	37	c.1237	CCDS31920.1	12	.	.	.	.	.	.	.	.	.	.	G	36	5.785443	0.96937	.	.	ENSG00000111011	ENST00000331738;ENST00000354654	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.6396	0.99537	0.0:0.0:1.0:0.0	.	.	.	.	X	413;365	.	ENSP00000330188:Q413X	Q	-	1	0	RSRC2	121556095	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.357000	0.97099	2.881000	0.98747	0.650000	0.86243	CAA	RSRC2	-	NULL	ENSG00000111011		0.398	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSRC2	HGNC	protein_coding	OTTHUMT00000395096.3	-	0.00	53	0	G	NM_023012		122990142	-1	tier1	-	no_errors	ENST00000331738	ensembl	human	known	74_37	nonsense	32.26	41	20	SNP	1.000	A
RYR2	6262	genome.wustl.edu	37	1	237947346	237947346	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:237947346G>A	ENST00000366574.2	+	90	12651	c.12334G>A	c.(12334-12336)Gat>Aat	p.D4112N	RYR2_ENST00000360064.6_Missense_Mutation_p.D4118N|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.D4096N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4112					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)			CATGCCCAACGATACCCGACT	0.522																																																	0													57.0	57.0	57.0					1																	237947346		1960	4172	6132	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.12334G>A	1.37:g.237947346G>A	ENSP00000355533:p.Asp4112Asn		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_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.D4118N	ENST00000366574.2	37	c.12352	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.851323	0.91355	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97888	-4.59;-4.59;-4.59	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000003	D	0.98595	0.9530	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.995;0.998	D	0.99808	1.1039	10	0.87932	D	0	.	19.6415	0.95760	0.0:0.0:1.0:0.0	.	1086;4112	B4DGV4;Q92736	.;RYR2_HUMAN	N	4112;4118;4096;1086	ENSP00000355533:D4112N;ENSP00000353174:D4118N;ENSP00000443798:D4096N	ENSP00000353174:D4118N	D	+	1	0	RYR2	236013969	1.000000	0.71417	0.270000	0.24601	0.828000	0.46876	9.813000	0.99286	2.651000	0.90000	0.561000	0.74099	GAT	RYR2	-	NULL	ENSG00000198626		0.522	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0.00	47	0	G	NM_001035		237947346	+1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	25.93	20	7	SNP	1.000	A
SAMD9L	219285	genome.wustl.edu	37	7	92761642	92761642	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr7:92761642G>T	ENST00000318238.4	-	5	4859	c.3643C>A	c.(3643-3645)Ccc>Acc	p.P1215T	SAMD9L_ENST00000437805.1_Missense_Mutation_p.P1215T|SAMD9L_ENST00000411955.1_Missense_Mutation_p.P1215T	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1215					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGGAAAAAGGGAGTGAGCTGA	0.373																																																	0													108.0	102.0	104.0					7																	92761642		2203	4299	6502	SO:0001583	missense	0			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.3643C>A	7.37:g.92761642G>T	ENSP00000326247:p.Pro1215Thr		A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM	p.P1215T	ENST00000318238.4	37	c.3643	CCDS34681.1	7	.	.	.	.	.	.	.	.	.	.	G	12.64	2.000068	0.35320	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.26373	1.74;1.74;1.74	4.77	2.93	0.34026	.	0.073163	0.56097	D	0.000039	T	0.28001	0.0690	M	0.69823	2.125	0.21967	N	0.999442	B	0.24186	0.099	B	0.25884	0.064	T	0.28902	-1.0029	10	0.66056	D	0.02	-8.4884	9.9233	0.41476	0.0775:0.0:0.7808:0.1417	.	1215	Q8IVG5	SAM9L_HUMAN	T	1215	ENSP00000326247:P1215T;ENSP00000405760:P1215T;ENSP00000408796:P1215T	ENSP00000326247:P1215T	P	-	1	0	SAMD9L	92599578	0.662000	0.27439	0.961000	0.40146	0.639000	0.38242	2.298000	0.43602	1.345000	0.45676	-0.518000	0.04402	CCC	SAMD9L	-	NULL	ENSG00000177409		0.373	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9L	HGNC	protein_coding	OTTHUMT00000341730.1	-	0.00	55	0	G	NM_152703		92761642	-1	tier1	-	no_errors	ENST00000318238	ensembl	human	known	74_37	missense	25.81	46	16	SNP	0.387	T
SCP2D1	140856	genome.wustl.edu	37	20	18794461	18794461	+	Start_Codon_SNP	SNP	T	T	C			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr20:18794461T>C	ENST00000377428.2	+	1	92	c.2T>C	c.(1-3)aTg>aCg	p.M1T	C20orf78_ENST00000278779.4_Intron|C20orf78_ENST00000463425.1_5'Flank	NM_178483.2	NP_848578.1	Q9UJQ7	SCP2D_HUMAN	SCP2 sterol-binding domain containing 1	1																	CACAGGAAGATGTGGAAGAGA	0.517																																																	0													103.0	98.0	100.0					20																	18794461		2203	4300	6503	SO:0001582	initiator_codon_variant	0			AL035563	CCDS13139.1	20p11.23	2012-10-29	2012-10-29	2012-10-29	ENSG00000132631	ENSG00000132631			16211	protein-coding gene	gene with protein product	"""sterol carrier protein 2-like protein"""		"""chromosome 20 open reading frame 79"""	C20orf79		16501878	Standard	NM_178483		Approved	dJ1068E13.2, HSD22	uc002wrk.3	Q9UJQ7	OTTHUMG00000031983	ENST00000377428.2:c.2T>C	20.37:g.18794461T>C	ENSP00000366645:p.Met1Thr		Q548A4	Missense_Mutation	SNP	pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom	p.M1T	ENST00000377428.2	37	c.2	CCDS13139.1	20	.	.	.	.	.	.	.	.	.	.	T	15.16	2.751116	0.49257	.	.	ENSG00000132631	ENST00000377428	T	0.24350	1.86	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.51415	0.1673	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.55891	-0.8069	9	0.87932	D	0	-21.139	12.631	0.56657	0.0:0.0:0.0:1.0	.	1	Q9UJQ7	CT079_HUMAN	T	1	ENSP00000366645:M1T	ENSP00000366645:M1T	M	+	2	0	C20orf79	18742461	1.000000	0.71417	1.000000	0.80357	0.382000	0.30200	4.098000	0.57748	2.239000	0.73571	0.383000	0.25322	ATG	SCP2D1	-	NULL	ENSG00000132631		0.517	SCP2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCP2D1	HGNC	protein_coding	OTTHUMT00000078193.1	-	0.00	60	0	T	NM_178483	Missense_Mutation	18794461	+1	tier1	-	no_errors	ENST00000377428	ensembl	human	known	74_37	missense	27.03	27	10	SNP	1.000	C
SEMA3G	56920	genome.wustl.edu	37	3	52476595	52476595	+	Nonsense_Mutation	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr3:52476595G>A	ENST00000231721.2	-	3	318	c.319C>T	c.(319-321)Cga>Tga	p.R107*		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	107	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CTTCCCTTTCGAACACACTCC	0.637																																																	0													192.0	154.0	167.0					3																	52476595		2203	4300	6503	SO:0001587	stop_gained	0				CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.319C>T	3.37:g.52476595G>A	ENSP00000231721:p.Arg107*		Q7L9D9|Q9H7Q3	Nonsense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom	p.R107*	ENST00000231721.2	37	c.319	CCDS2856.1	3	.	.	.	.	.	.	.	.	.	.	G	7.079	0.569772	0.13560	.	.	ENSG00000010319	ENST00000231721;ENST00000475739	.	.	.	4.35	2.52	0.30459	.	0.626629	0.16528	N	0.210484	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	8.5807	0.33626	0.0843:0.1529:0.7629:0.0	.	.	.	.	X	107;125	.	ENSP00000231721:R107X	R	-	1	2	SEMA3G	52451635	0.000000	0.05858	0.041000	0.18516	0.011000	0.07611	0.698000	0.25571	0.533000	0.28675	0.561000	0.74099	CGA	SEMA3G	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000010319		0.637	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3G	HGNC	protein_coding	OTTHUMT00000351354.1		0.00	57	0	G	NM_020163		52476595	-1			no_errors	ENST00000231721	ensembl	human	known	74_37	nonsense	12.00	22	3	SNP	0.001	A
SERPINA12	145264	genome.wustl.edu	37	14	94962837	94962837	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr14:94962837G>T	ENST00000341228.2	-	4	1573	c.778C>A	c.(778-780)Ctg>Atg	p.L260M	SERPINA12_ENST00000556881.1_Missense_Mutation_p.L260M	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	260					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GGTATTTCCAGGATGGTGCAA	0.458																																																	0													199.0	190.0	193.0					14																	94962837		2203	4300	6503	SO:0001583	missense	0			AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.778C>A	14.37:g.94962837G>T	ENSP00000342109:p.Leu260Met			Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.L260M	ENST00000341228.2	37	c.778	CCDS9926.1	14	.	.	.	.	.	.	.	.	.	.	G	13.49	2.254242	0.39896	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.91351	-2.83;-2.83	5.35	4.45	0.53987	Serpin domain (3);	0.000000	0.47093	D	0.000256	D	0.94414	0.8203	M	0.83483	2.645	0.30753	N	0.744923	D	0.76494	0.999	D	0.73380	0.98	D	0.92236	0.5796	10	0.66056	D	0.02	.	8.404	0.32603	0.0908:0.2893:0.6199:0.0	.	260	Q8IW75	SPA12_HUMAN	M	260	ENSP00000451738:L260M;ENSP00000342109:L260M	ENSP00000342109:L260M	L	-	1	2	SERPINA12	94032590	0.991000	0.36638	0.998000	0.56505	0.352000	0.29268	0.715000	0.25822	1.228000	0.43614	0.561000	0.74099	CTG	SERPINA12	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000165953		0.458	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA12	HGNC	protein_coding	OTTHUMT00000413097.1	-	0.00	124	0	G	NM_173850		94962837	-1	tier1	-	no_errors	ENST00000341228	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.994	T
SERPING1	710	genome.wustl.edu	37	11	57373868	57373868	+	Intron	SNP	C	C	G			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr11:57373868C>G	ENST00000278407.4	+	6	1116				SERPING1_ENST00000340687.6_Intron|SERPING1_ENST00000403558.1_Missense_Mutation_p.L336V|SERPING1_ENST00000378324.2_Intron|SERPING1_ENST00000378323.4_Intron	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1						blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						ACCCTCCCACCTCTTCCCTCT	0.433																																																	0													77.0	80.0	79.0					11																	57373868		2201	4296	6497	SO:0001627	intron_variant	0			X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.890-13C>G	11.37:g.57373868C>G			A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.L336V	ENST00000278407.4	37	c.1006	CCDS7962.1	11	.	.	.	.	.	.	.	.	.	.	C	3.027	-0.200426	0.06219	.	.	ENSG00000149131	ENST00000403558	D	0.85955	-2.05	4.9	-0.101	0.13618	.	.	.	.	.	T	0.77287	0.4108	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.64546	-0.6382	6	0.33141	T	0.24	.	5.2154	0.15340	0.0:0.5354:0.1564:0.3082	.	.	.	.	V	336	ENSP00000384420:L336V	ENSP00000384420:L336V	L	+	1	0	SERPING1	57130444	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-1.959000	0.01518	0.084000	0.17077	-0.145000	0.13849	CTC	SERPING1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000149131		0.433	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SERPING1	HGNC	protein_coding	OTTHUMT00000317465.1	-	0.00	88	0	C	NM_000062		57373868	+1	tier1	-	no_errors	ENST00000403558	ensembl	human	putative	74_37	missense	36.23	44	25	SNP	0.000	G
SETD2	29072	genome.wustl.edu	37	3	47163875	47163875	+	Missense_Mutation	SNP	G	G	T	rs115788094	byFrequency	TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr3:47163875G>T	ENST00000409792.3	-	3	2293	c.2251C>A	c.(2251-2253)Cct>Act	p.P751T		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	751					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GACACCAGAGGTTCTGTTTCT	0.388			"""N, F, S, Mis"""		clear cell renal carcinoma								G|||	10	0.00199681	0.0076	0.0	5008	,	,		20596	0.0		0.0	False		,,,				2504	0.0							Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0								G	THR/PRO	5,4399	9.9+/-24.2	0,5,2197	158.0	156.0	157.0		2251	4.3	1.0	3	dbSNP_132	157	0,8600		0,0,4300	yes	missense	SETD2	NM_014159.6	38	0,5,6497	TT,TG,GG		0.0,0.1135,0.0384	benign	751/2565	47163875	5,12999	2202	4300	6502	SO:0001583	missense	0			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.2251C>A	3.37:g.47163875G>T	ENSP00000386759:p.Pro751Thr		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	pfam_SRI,pfam_SET_dom,pfam_WW_dom,superfamily_WW_dom,superfamily_Ferritin-like_SF,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_dom	p.P751T	ENST00000409792.3	37	c.2251	CCDS2749.2	3	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	14.29	2.490635	0.44249	0.001135	0.0	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.88046	-2.33;1.52	5.18	4.3	0.51218	.	0.348283	0.24886	N	0.034804	T	0.69333	0.3099	N	0.19112	0.55	0.29325	N	0.867114	B;B	0.28713	0.22;0.22	B;B	0.22386	0.039;0.024	T	0.69975	-0.4999	10	0.72032	D	0.01	.	7.6969	0.28600	0.0894:0.2156:0.6951:0.0	.	751;751	F2Z317;Q9BYW2	.;SETD2_HUMAN	T	751;751;751;707	ENSP00000386759:P751T;ENSP00000416401:P707T	ENSP00000386759:P751T	P	-	1	0	SETD2	47138879	1.000000	0.71417	0.982000	0.44146	0.988000	0.76386	2.237000	0.43061	1.403000	0.46800	0.655000	0.94253	CCT	SETD2	-	NULL	ENSG00000181555		0.388	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	HGNC	protein_coding	OTTHUMT00000257479.2		0.00	58	0	G	NM_014159		47163875	-1			no_errors	ENST00000409792	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.983	T
SH3GL1	6455	genome.wustl.edu	37	19	4363467	4363467	+	Nonsense_Mutation	SNP	C	C	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:4363467C>A	ENST00000269886.3	-	7	806	c.628G>T	c.(628-630)Gag>Tag	p.E210*	SH3GL1_ENST00000417295.2_Nonsense_Mutation_p.E162*|AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000598564.1_Nonsense_Mutation_p.E146*	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	210	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		CTCACCTGCTCGATCTGTGGG	0.652			T	MLL	AL																																NSCLC(94;1152 2133 30346 33362)			Dom	yes		19	19p13.3	6455	SH3-domain GRB2-like 1 (EEN)		L	0													31.0	24.0	26.0					19																	4363467		2202	4300	6502	SO:0001587	stop_gained	0				CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"""extra 11-19 leukemia fusion"", ""fusion partner of MLL"", ""SH3-containing Grb-2-like 1 protein"", ""SH3-containing protein EEN"", ""SH3 domain GRB2-like 1"""	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.628G>T	19.37:g.4363467C>A	ENSP00000269886:p.Glu210*		B4DRA1|E7EVZ4|M0QZV5|Q99668	Nonsense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.E210*	ENST00000269886.3	37	c.628	CCDS32874.1	19	.	.	.	.	.	.	.	.	.	.	.	37	6.370990	0.97511	.	.	ENSG00000141985	ENST00000269886;ENST00000417295	.	.	.	4.67	4.67	0.58626	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.7665	16.5275	0.84335	0.0:1.0:0.0:0.0	.	.	.	.	X	210;162	.	ENSP00000269886:E210X	E	-	1	0	SH3GL1	4314467	1.000000	0.71417	0.994000	0.49952	0.893000	0.52053	7.770000	0.85390	2.141000	0.66446	0.556000	0.70494	GAG	SH3GL1	-	pfam_BAR_dom,pfam_BAR_dom-cont,smart_BAR_dom,pfscan_BAR_dom	ENSG00000141985		0.652	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GL1	HGNC	protein_coding	OTTHUMT00000458302.1	-	0.00	146	0	C	NM_003025		4363467	-1	tier1	-	no_errors	ENST00000269886	ensembl	human	known	74_37	nonsense	8.51	43	4	SNP	1.000	A
SH3GLB1	51100	genome.wustl.edu	37	1	87181545	87181545	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:87181545C>A	ENST00000370558.4	+	2	535	c.211C>A	c.(211-213)Cca>Aca	p.P71T	SH3GLB1_ENST00000482504.1_Missense_Mutation_p.P71T|SH3GLB1_ENST00000535010.1_Intron	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	71	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				'de novo' posttranslational protein folding (GO:0051084)|apoptotic process (GO:0006915)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|protein complex (GO:0043234)	fatty acid binding (GO:0005504)|identical protein binding (GO:0042802)|lysophosphatidic acid acyltransferase activity (GO:0042171)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		GCAGCCAAATCCAAGTAAGAA	0.323																																																	0													63.0	58.0	60.0					1																	87181545		2203	4300	6503	SO:0001583	missense	0			AF263293	CCDS710.1, CCDS55612.1, CCDS55613.1, CCDS72819.1	1p22.3	2012-04-17	2001-12-04		ENSG00000097033	ENSG00000097033		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	10833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 70"""	609287	"""SH3-domain, GRB2-like, endophilin B1"""			11161816, 11259440	Standard	NM_016009		Approved	CGI-61, KIAA0491, Bif-1, PPP1R70	uc001dly.3	Q9Y371	OTTHUMG00000010257	ENST00000370558.4:c.211C>A	1.37:g.87181545C>A	ENSP00000473267:p.Pro71Thr		B4E182|Q5H8U5|Q9H3Z0|Q9NR47|Q9NYA9	Missense_Mutation	SNP	pfam_BAR_dom,pfam_BAR_dom-cont,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain	p.P71T	ENST00000370558.4	37	c.211	CCDS710.1	1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663755	0.88251	.	.	ENSG00000097033	ENST00000212369;ENST00000482504	T	0.67523	-0.27	5.21	5.21	0.72293	BAR (3);	0.000000	0.85682	D	0.000000	T	0.82250	0.4996	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.76575	0.988;0.964	D	0.84996	0.0897	10	0.62326	D	0.03	.	18.753	0.91823	0.0:1.0:0.0:0.0	.	71;71	Q9Y371-2;Q9Y371	.;SHLB1_HUMAN	T	71	ENSP00000418744:P71T	ENSP00000212369:P71T	P	+	1	0	SH3GLB1	86954133	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.814000	0.86154	2.425000	0.82216	0.591000	0.81541	CCA	SH3GLB1	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom	ENSG00000097033		0.323	SH3GLB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GLB1	HGNC	protein_coding	OTTHUMT00000028287.2		0.00	17	0	C	NM_016009		87181545	+1			no_errors	ENST00000482504	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	A
SIPA1L1	26037	genome.wustl.edu	37	14	72117169	72117169	+	Nonsense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr14:72117169G>T	ENST00000555818.1	+	5	2284	c.1936G>T	c.(1936-1938)Gga>Tga	p.G646*	SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.G646*|SIPA1L1_ENST00000537413.1_Nonsense_Mutation_p.G121*|SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.G646*	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	646	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCAACTATTGGGAGAGCGAGT	0.443																																																	0													109.0	106.0	107.0					14																	72117169		2203	4300	6503	SO:0001587	stop_gained	0			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1936G>T	14.37:g.72117169G>T	ENSP00000450832:p.Gly646*		J3KP19|O95321|Q9UDU4|Q9UNU4	Nonsense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.G646*	ENST00000555818.1	37	c.1936	CCDS9807.1	14	.	.	.	.	.	.	.	.	.	.	G	37	6.046547	0.97231	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413;ENST00000555066	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.6652	19.8756	0.96869	0.0:0.0:1.0:0.0	.	.	.	.	X	646;646;646;121;162	.	ENSP00000351352:G646X	G	+	1	0	SIPA1L1	71186922	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	9.420000	0.97426	2.768000	0.95171	0.655000	0.94253	GGA	SIPA1L1	-	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom	ENSG00000197555		0.443	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1		0.00	63	0	G	NM_015556		72117169	+1			no_errors	ENST00000555818	ensembl	human	known	74_37	nonsense	5.26	36	2	SNP	1.000	T
SIRT1	23411	genome.wustl.edu	37	10	69651212	69651212	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:69651212C>T	ENST00000212015.6	+	4	895	c.842C>T	c.(841-843)gCt>gTt	p.A281V	SIRT1_ENST00000406900.1_5'Flank|SIRT1_ENST00000497639.1_3'UTR|SIRT1_ENST00000432464.1_5'UTR	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	281	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.|Interaction with CCAR2.				angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|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)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						GGTATTTATGCTCGCCTTGCT	0.373																																																	0													220.0	213.0	215.0					10																	69651212		2203	4300	6503	SO:0001583	missense	0			AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1"", ""sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"""			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.842C>T	10.37:g.69651212C>T	ENSP00000212015:p.Ala281Val		Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Missense_Mutation	SNP	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	p.A281V	ENST00000212015.6	37	c.842	CCDS7273.1	10	.	.	.	.	.	.	.	.	.	.	C	33	5.274257	0.95459	.	.	ENSG00000096717	ENST00000212015	T	0.18810	2.19	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.48077	0.1480	M	0.76838	2.35	0.80722	D	1	D	0.60575	0.988	D	0.67900	0.954	T	0.51647	-0.8679	10	0.62326	D	0.03	-15.4362	17.7449	0.88418	0.0:1.0:0.0:0.0	.	281	Q96EB6	SIRT1_HUMAN	V	281	ENSP00000212015:A281V	ENSP00000212015:A281V	A	+	2	0	SIRT1	69321218	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.289000	0.78701	2.495000	0.84180	0.557000	0.71058	GCT	SIRT1	-	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	ENSG00000096717		0.373	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT1	HGNC	protein_coding	OTTHUMT00000048296.1		0.00	39	0	C			69651212	+1			no_errors	ENST00000212015	ensembl	human	known	74_37	missense	7.69	47	4	SNP	1.000	T
SLC12A7	10723	genome.wustl.edu	37	5	1064243	1064243	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:1064243G>T	ENST00000264930.5	-	19	2605	c.2562C>A	c.(2560-2562)gaC>gaA	p.D854E	MIR4635_ENST00000583759.1_RNA	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	854					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCATGCCGCCGTCGTGCACGA	0.687																																																	0													43.0	38.0	40.0					5																	1064243		2199	4292	6491	SO:0001583	missense	0			AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2562C>A	5.37:g.1064243G>T	ENSP00000264930:p.Asp854Glu		A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.D854E	ENST00000264930.5	37	c.2562	CCDS34129.1	5	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942530	0.53079	.	.	ENSG00000113504	ENST00000264930	D	0.95588	-3.75	4.26	1.3	0.21679	.	0.000000	0.85682	D	0.000000	D	0.96216	0.8766	M	0.82433	2.59	0.50467	D	0.999872	D	0.71674	0.998	P	0.56960	0.81	D	0.94504	0.7712	10	0.72032	D	0.01	.	7.9702	0.30124	0.4523:0.0:0.5477:0.0	.	854	Q9Y666	S12A7_HUMAN	E	854	ENSP00000264930:D854E	ENSP00000264930:D854E	D	-	3	2	SLC12A7	1117243	0.916000	0.31088	1.000000	0.80357	0.588000	0.36517	-0.010000	0.12743	0.243000	0.21327	0.313000	0.20887	GAC	SLC12A7	-	tigrfam_Na/K/Cl_cotransptS	ENSG00000113504		0.687	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	SLC12A7	HGNC	protein_coding	OTTHUMT00000366446.2	-	0.00	89	0	G	NM_006598		1064243	-1	tier1	-	no_errors	ENST00000264930	ensembl	human	known	74_37	missense	100.00	0	2	SNP	0.998	T
SLC19A3	80704	genome.wustl.edu	37	2	228552908	228552908	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:228552908C>A	ENST00000258403.3	-	5	1359	c.1288G>T	c.(1288-1290)Ggg>Tgg	p.G430W	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.G426W	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	430					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	AAGTTGAGCCCTCTCTGATCT	0.388																																																	0													158.0	140.0	146.0					2																	228552908		2203	4300	6503	SO:0001583	missense	0			AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"""Solute carriers"""	16266	protein-coding gene	gene with protein product	"""thiamine transporter 2"""	606152	"""solute carrier family 19, member 3"""			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.1288G>T	2.37:g.228552908C>A	ENSP00000258403:p.Gly430Trp			Missense_Mutation	SNP	pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	p.G430W	ENST00000258403.3	37	c.1288	CCDS2468.1	2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025185	0.75390	.	.	ENSG00000135917	ENST00000258403;ENST00000541617	D;D	0.87334	-2.24;-2.24	5.44	4.56	0.56223	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.93403	0.7896	M	0.82433	2.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94282	0.7521	10	0.87932	D	0	-8.8152	14.0607	0.64797	0.0:0.9283:0.0:0.0717	.	426;430	F5H2M8;Q9BZV2	.;S19A3_HUMAN	W	430;426	ENSP00000258403:G430W;ENSP00000445519:G426W	ENSP00000258403:G430W	G	-	1	0	SLC19A3	228261152	0.787000	0.28750	0.886000	0.34754	0.885000	0.51271	3.253000	0.51469	1.525000	0.49052	0.650000	0.86243	GGG	SLC19A3	-	pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	ENSG00000135917		0.388	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC19A3	HGNC	protein_coding	OTTHUMT00000256894.1	-	0.00	27	0	C			228552908	-1	tier1	-	no_errors	ENST00000258403	ensembl	human	known	74_37	missense	22.58	24	7	SNP	1.000	A
SLC22A7	10864	genome.wustl.edu	37	6	43269984	43269984	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr6:43269984G>A	ENST00000372585.5	+	8	1203	c.1108G>A	c.(1108-1110)Ggg>Agg	p.G370R	SLC22A7_ENST00000372574.3_Missense_Mutation_p.G368R|SLC22A7_ENST00000372589.3_Missense_Mutation_p.G368R	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	370					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GGATGTGTCGGGGCTGGGGCT	0.597																																																	0													123.0	109.0	114.0					6																	43269984		2203	4300	6503	SO:0001583	missense	0			AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.1108G>A	6.37:g.43269984G>A	ENSP00000361666:p.Gly370Arg		B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.G370R	ENST00000372585.5	37	c.1108	CCDS4893.2	6	.	.	.	.	.	.	.	.	.	.	G	14.70	2.615130	0.46631	.	.	ENSG00000137204	ENST00000372589;ENST00000372585;ENST00000372574;ENST00000436107	T;T;T;T	0.73575	0.32;0.32;0.32;-0.76	5.27	4.4	0.53042	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.053078	0.85682	N	0.000000	T	0.74680	0.3748	L	0.50847	1.595	0.80722	D	1	P;P;P	0.46457	0.878;0.852;0.852	P;P;P	0.62649	0.905;0.847;0.847	T	0.78001	-0.2375	10	0.66056	D	0.02	.	11.2612	0.49085	0.0869:0.0:0.9131:0.0	.	370;368;368	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	R	368;370;368;63	ENSP00000361670:G368R;ENSP00000361666:G370R;ENSP00000361655:G368R;ENSP00000393836:G63R	ENSP00000361655:G368R	G	+	1	0	SLC22A7	43377962	0.008000	0.16893	0.252000	0.24328	0.136000	0.21042	1.146000	0.31589	1.224000	0.43551	0.462000	0.41574	GGG	SLC22A7	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	ENSG00000137204		0.597	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	SLC22A7	HGNC	protein_coding	OTTHUMT00000040588.1	-	0.00	155	0	G			43269984	+1	tier1	-	no_errors	ENST00000372585	ensembl	human	known	74_37	missense	29.69	45	19	SNP	0.879	A
SLC25A43	203427	genome.wustl.edu	37	X	118586029	118586029	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chrX:118586029G>A	ENST00000217909.7	+	4	1092	c.748G>A	c.(748-750)Gtg>Atg	p.V250M	SLC25A43_ENST00000488158.1_3'UTR|SLC25A43_ENST00000336249.7_Missense_Mutation_p.S192N	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43	250					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						CTCAGGAGCAGTGGACTGCTT	0.547																																																	0													73.0	74.0	74.0					X																	118586029		2203	4300	6503	SO:0001583	missense	0			BC019584	CCDS14577.1	Xq24	2013-05-22			ENSG00000077713	ENSG00000077713		"""Solute carriers"""	30557	protein-coding gene	gene with protein product		300641				16949250	Standard	NM_145305		Approved		uc004erd.3	Q8WUT9	OTTHUMG00000022272	ENST00000217909.7:c.748G>A	X.37:g.118586029G>A	ENSP00000217909:p.Val250Met		O75854|Q8N9L5	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.V250M	ENST00000217909.7	37	c.748	CCDS14577.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.184|8.184	0.794479|0.794479	0.16327|0.16327	.|.	.|.	ENSG00000077713|ENSG00000077713	ENST00000336249|ENST00000217909;ENST00000326714	T|T	0.77229|0.79845	-1.08|-1.31	5.37|5.37	2.45|2.45	0.29901|0.29901	.|Mitochondrial carrier domain (2);	.|.	.|.	.|.	.|.	T|T	0.69251|0.69251	0.3090|0.3090	L|L	0.41356|0.41356	1.27|1.27	0.09310|0.09310	N|N	1|1	B|B	0.20671|0.16603	0.047|0.018	B|B	0.14578|0.21151	0.011|0.033	T|T	0.53244|0.53244	-0.8466|-0.8466	9|9	0.18710|0.25106	T|T	0.47|0.35	.|.	5.4156|5.4156	0.16372|0.16372	0.3506:0.1335:0.5159:0.0|0.3506:0.1335:0.5159:0.0	.|.	192|250	B4E1P8|Q8WUT9	.|S2543_HUMAN	N|M	192|250;198	ENSP00000338628:S192N|ENSP00000217909:V250M	ENSP00000338628:S192N|ENSP00000217909:V250M	S|V	+|+	2|1	0|0	SLC25A43|SLC25A43	118470057|118470057	0.939000|0.939000	0.31865|0.31865	0.078000|0.078000	0.20375|0.20375	0.650000|0.650000	0.38633|0.38633	0.484000|0.484000	0.22308|0.22308	0.065000|0.065000	0.16485|0.16485	-0.208000|-0.208000	0.12717|0.12717	AGT|GTG	SLC25A43	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000077713		0.547	SLC25A43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A43	HGNC	protein_coding	OTTHUMT00000058028.1	-	0.00	62	0	G	NM_145305		118586029	+1	tier1	-	no_errors	ENST00000217909	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.032	A
SLC30A2	7780	genome.wustl.edu	37	1	26366308	26366308	+	Silent	SNP	C	C	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:26366308C>T	ENST00000374278.3	-	6	1002	c.786G>A	c.(784-786)ctG>ctA	p.L262L	SLC30A2_ENST00000374276.3_Silent_p.L311L	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	262					positive regulation of sequestering of zinc ion (GO:0061090)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)	cation transmembrane transporter activity (GO:0008324)			cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCCACCGTCAGTGCCCAGA	0.612																																																	0													70.0	53.0	59.0					1																	26366308		2203	4300	6503	SO:0001819	synonymous_variant	0			AK023491	CCDS272.1, CCDS30644.1	1p35.3	2013-05-22			ENSG00000158014	ENSG00000158014		"""Solute carriers"""	11013	protein-coding gene	gene with protein product		609617		ZNT2			Standard	NM_001004434		Approved		uc001blg.1	Q9BRI3	OTTHUMG00000007508	ENST00000374278.3:c.786G>A	1.37:g.26366308C>T			Q71RC8	Silent	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.L311	ENST00000374278.3	37	c.933	CCDS272.1	1																																																																																			SLC30A2	-	pfam_Cation_efflux,tigrfam_Cation_efflux	ENSG00000158014		0.612	SLC30A2-001	KNOWN	basic|CCDS	protein_coding	SLC30A2	HGNC	protein_coding	OTTHUMT00000019742.1	-	0.00	91	0	C	NM_032513		26366308	-1	tier1	-	no_errors	ENST00000374276	ensembl	human	known	74_37	silent	21.57	40	11	SNP	1.000	T
SLC30A5	64924	genome.wustl.edu	37	5	68398888	68398888	+	Splice_Site	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:68398888G>T	ENST00000396591.3	+	3	816		c.e3-1		SLC30A5_ENST00000380860.4_Splice_Site|SLC30A5_ENST00000502979.1_Splice_Site	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5						cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		AATATTTACAGGACTGCATTT	0.269																																																	0													58.0	68.0	65.0					5																	68398888		2185	4296	6481	SO:0001630	splice_region_variant	0			AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"""Solute carriers"""	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.207-1G>T	5.37:g.68398888G>T			B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Splice_Site	SNP	-	e3-1	ENST00000396591.3	37	c.207-1	CCDS3996.1	5	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147532	0.77888	.	.	ENSG00000145740	ENST00000396591;ENST00000380860;ENST00000504103;ENST00000502979	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4745	0.99168	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC30A5	68434644	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.365000	0.79537	2.941000	0.99782	0.655000	0.94253	.	SLC30A5	-	-	ENSG00000145740		0.269	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A5	HGNC	protein_coding	OTTHUMT00000254017.2		0.00	47	0	G		Intron	68398888	+1			no_errors	ENST00000396591	ensembl	human	known	74_37	splice_site	7.14	52	4	SNP	1.000	T
SLC5A2	6524	genome.wustl.edu	37	16	31500466	31500466	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr16:31500466G>T	ENST00000330498.3	+	12	1491	c.1472G>T	c.(1471-1473)gGg>gTg	p.G491V	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	491					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	GGACTCATCGGGGGCCTGCTG	0.682																																																	0													55.0	55.0	55.0					16																	31500466		2197	4300	6497	SO:0001583	missense	0				CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1472G>T	16.37:g.31500466G>T	ENSP00000327943:p.Gly491Val		A2RRD2	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.G491V	ENST00000330498.3	37	c.1472	CCDS10714.1	16	.	.	.	.	.	.	.	.	.	.	G	8.964	0.971393	0.18736	.	.	ENSG00000140675	ENST00000330498	D	0.86297	-2.1	4.64	4.64	0.57946	Sodium/solute symporter, conserved site (1);	0.113847	0.64402	N	0.000016	D	0.82939	0.5146	N	0.10945	0.07	0.80722	D	1	D	0.60160	0.987	D	0.63597	0.916	T	0.78237	-0.2282	10	0.02654	T	1	.	15.0492	0.71854	0.0:0.0:1.0:0.0	.	491	P31639	SC5A2_HUMAN	V	491	ENSP00000327943:G491V	ENSP00000327943:G491V	G	+	2	0	SLC5A2	31407967	0.002000	0.14202	0.993000	0.49108	0.876000	0.50452	1.168000	0.31859	2.403000	0.81681	0.561000	0.74099	GGG	SLC5A2	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000140675		0.682	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A2	HGNC	protein_coding	OTTHUMT00000255627.2	-	0.00	114	0	G			31500466	+1	tier1	-	no_errors	ENST00000330498	ensembl	human	known	74_37	missense	23.08	10	3	SNP	0.931	T
SLIT3	6586	genome.wustl.edu	37	5	168233482	168233482	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:168233482G>T	ENST00000519560.1	-	9	1323	c.904C>A	c.(904-906)Cct>Act	p.P302T	SLIT3_ENST00000332966.8_Missense_Mutation_p.P302T|SLIT3_ENST00000404867.3_Missense_Mutation_p.P302T	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	302	LRRNT 2.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAGTTGGCAGGAATCTCCATC	0.577																																					Ovarian(29;311 847 10864 17279 24903)												0													89.0	81.0	84.0					5																	168233482		2203	4300	6503	SO:0001583	missense	0			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.904C>A	5.37:g.168233482G>T	ENSP00000430333:p.Pro302Thr		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.P302T	ENST00000519560.1	37	c.904	CCDS4369.1	5	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621016	0.87460	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.99857	-7.22;-7.22;-7.22	5.52	5.52	0.82312	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99926	0.9966	H	0.98918	4.37	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.966	D;D;P	0.91635	0.999;0.999;0.855	D	0.96033	0.9018	10	0.87932	D	0	.	19.4741	0.94979	0.0:0.0:1.0:0.0	.	302;302;302	O75094-2;O75094-3;O75094	.;.;SLIT3_HUMAN	T	302	ENSP00000430333:P302T;ENSP00000332164:P302T;ENSP00000384890:P302T	ENSP00000332164:P302T	P	-	1	0	SLIT3	168166060	1.000000	0.71417	0.993000	0.49108	0.805000	0.45488	9.046000	0.93817	2.595000	0.87683	0.655000	0.94253	CCT	SLIT3	-	pfam_LRR-contain_N,smart_LRR-contain_N	ENSG00000184347		0.577	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4	-	0.00	104	0	G	NM_003062		168233482	-1	tier1	-	no_errors	ENST00000519560	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T
SLITRK1	114798	genome.wustl.edu	37	13	84454169	84454169	+	Missense_Mutation	SNP	C	C	G			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr13:84454169C>G	ENST00000377084.2	-	1	2359	c.1474G>C	c.(1474-1476)Gct>Cct	p.A492P		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	492					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GAGACCCCAGCGAACACGTCC	0.537																																																	0													56.0	56.0	56.0					13																	84454169		2203	4300	6503	SO:0001583	missense	0			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1474G>C	13.37:g.84454169C>G	ENSP00000366288:p.Ala492Pro		Q5U5I6|Q96SF9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.A492P	ENST00000377084.2	37	c.1474	CCDS9464.1	13	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104470	0.56291	.	.	ENSG00000178235	ENST00000377084	T	0.54279	0.58	5.22	5.22	0.72569	.	0.121135	0.56097	D	0.000022	T	0.65450	0.2692	L	0.59436	1.845	0.54753	D	0.999987	D	0.55605	0.972	P	0.57204	0.815	T	0.66630	-0.5875	10	0.54805	T	0.06	-7.6667	17.693	0.88273	0.0:1.0:0.0:0.0	.	492	Q96PX8	SLIK1_HUMAN	P	492	ENSP00000366288:A492P	ENSP00000366288:A492P	A	-	1	0	SLITRK1	83352170	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	2.544000	0.45761	2.603000	0.88011	0.655000	0.94253	GCT	SLITRK1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000178235		0.537	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	-	0.00	71	0	C	NM_052910		84454169	-1	tier1	-	no_errors	ENST00000377084	ensembl	human	known	74_37	missense	20.55	58	15	SNP	1.000	G
SLITRK1	114798	genome.wustl.edu	37	13	84454948	84454948	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr13:84454948T>C	ENST00000377084.2	-	1	1580	c.695A>G	c.(694-696)aAg>aGg	p.K232R		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	232	LRRCT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CAGGGCATTCTTGGGAATGTT	0.522																																																	0													57.0	57.0	57.0					13																	84454948		2203	4300	6503	SO:0001583	missense	0			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.695A>G	13.37:g.84454948T>C	ENSP00000366288:p.Lys232Arg		Q5U5I6|Q96SF9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.K232R	ENST00000377084.2	37	c.695	CCDS9464.1	13	.	.	.	.	.	.	.	.	.	.	T	1.596	-0.527830	0.04112	.	.	ENSG00000178235	ENST00000377084	T	0.51574	0.7	4.72	4.72	0.59763	Cysteine-rich flanking region, C-terminal (1);	0.180286	0.49916	D	0.000132	T	0.29355	0.0731	N	0.16656	0.425	0.46725	D	0.999172	B	0.02656	0.0	B	0.04013	0.001	T	0.09818	-1.0657	10	0.10636	T	0.68	-10.7587	13.1692	0.59589	0.0:0.0:0.0:1.0	.	232	Q96PX8	SLIK1_HUMAN	R	232	ENSP00000366288:K232R	ENSP00000366288:K232R	K	-	2	0	SLITRK1	83352949	1.000000	0.71417	0.995000	0.50966	0.819000	0.46315	3.932000	0.56537	1.992000	0.58205	0.459000	0.35465	AAG	SLITRK1	-	smart_Cys-rich_flank_reg_C	ENSG00000178235		0.522	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	-	0.00	66	0	T	NM_052910		84454948	-1	tier1	-	no_errors	ENST00000377084	ensembl	human	known	74_37	missense	27.94	49	19	SNP	0.998	C
SMAP1	60682	genome.wustl.edu	37	6	71377799	71377799	+	Silent	SNP	C	C	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr6:71377799C>T	ENST00000370455.3	+	1	321	c.73C>T	c.(73-75)Ctg>Ttg	p.L25L	SMAP1_ENST00000370452.3_Silent_p.L25L|SMAP1_ENST00000316999.5_Silent_p.L25L|SMAP1_ENST00000422334.2_Silent_p.L25L	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	25	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						ATCCAAGCTTCTGAGGGAGGA	0.652																																																	0													71.0	61.0	65.0					6																	71377799		2203	4300	6503	SO:0001819	synonymous_variant	0			AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"""ADP-ribosylation factor GTPase activating proteins"""	19651	protein-coding gene	gene with protein product		611372	"""stromal membrane-associated protein 1"", ""stromal membrane-associated GTPase-activating protein 1"""			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.73C>T	6.37:g.71377799C>T			Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Silent	SNP	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.L25	ENST00000370455.3	37	c.73	CCDS43478.1	6																																																																																			SMAP1	-	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP	ENSG00000112305		0.652	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAP1	HGNC	protein_coding	OTTHUMT00000041149.1	-	0.00	138	0	C	NM_001044305		71377799	+1	tier1	-	no_errors	ENST00000370455	ensembl	human	known	74_37	silent	34.29	23	12	SNP	1.000	T
SMC2	10592	genome.wustl.edu	37	9	106878558	106878558	+	Silent	SNP	C	C	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:106878558C>A	ENST00000286398.7	+	14	2037	c.1749C>A	c.(1747-1749)gcC>gcA	p.A583A	SMC2_ENST00000303219.8_Silent_p.A583A|SMC2_ENST00000374787.3_Silent_p.A583A|SMC2_ENST00000374793.3_Silent_p.A583A	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	583	Flexible hinge.				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AAATTTCAGccagatgtattg	0.338																																																	0													62.0	68.0	66.0					9																	106878558		2203	4300	6503	SO:0001819	synonymous_variant	0			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.1749C>A	9.37:g.106878558C>A			Q6IEE0|Q9P1P2	Silent	SNP	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge	p.A583	ENST00000286398.7	37	c.1749	CCDS35086.1	9																																																																																			SMC2	-	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge	ENSG00000136824		0.338	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC2	HGNC	protein_coding	OTTHUMT00000053470.1	-	0.00	63	0	C			106878558	+1	tier1	-	no_errors	ENST00000286398	ensembl	human	known	74_37	silent	5.62	84	5	SNP	0.997	A
SNRNP40	9410	genome.wustl.edu	37	1	31766006	31766006	+	Intron	DEL	A	A	-	rs112391814		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:31766006delA	ENST00000263694.4	-	2	290				SNRNP40_ENST00000446633.2_Intron	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)						gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						CCCAAGATTTAAAAAAAAAAA	0.398																																																	0																																										SO:0001627	intron_variant	0			AF090988	CCDS340.1	1p35.2	2013-01-09	2008-10-29	2008-10-29	ENSG00000060688	ENSG00000060688		"""WD repeat domain containing"""	30857	protein-coding gene	gene with protein product		607797	"""WD repeat domain 57 (U5 snRNP specific)"""	WDR57		9774689, 9731529, 10788320	Standard	NM_004814		Approved	PRP8BP, SPF38, PRPF8BP, HPRP8BP	uc009vtt.3	Q96DI7	OTTHUMG00000003790	ENST00000263694.4:c.271+59T>-	1.37:g.31766006delA			B4DQJ1|O75938|O95320	RNA	DEL	-	NULL	ENST00000263694.4	37	NULL	CCDS340.1	1																																																																																			SNRNP40	-	-	ENSG00000060688		0.398	SNRNP40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP40	HGNC	protein_coding	OTTHUMT00000010657.1		0.00	41	0	A	NM_004814		31766006	-1	tier1		no_errors	ENST00000463988	ensembl	human	known	74_37	rna	9.38	29	3	DEL	0.422	-
SORBS2	8470	genome.wustl.edu	37	4	186598368	186598368	+	Intron	SNP	G	G	T	rs532231815		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr4:186598368G>T	ENST00000284776.7	-	4	465				SORBS2_ENST00000437304.2_Missense_Mutation_p.P92Q|SORBS2_ENST00000355634.5_Intron|RP11-626E13.1_ENST00000447277.1_RNA|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000431808.1_Intron|SORBS2_ENST00000319471.9_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2						actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GAGAAATGACGGTACTTCGAC	0.483																																					Esophageal Squamous(153;41 2433 9491 36028)												0													143.0	128.0	133.0					4																	186598368		692	1591	2283	SO:0001627	intron_variant	0				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.44+1208C>A	4.37:g.186598368G>T			A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain	p.P92Q	ENST00000284776.7	37	c.275	CCDS3845.1	4	.	.	.	.	.	.	.	.	.	.	G	4.462	0.085571	0.08583	.	.	ENSG00000154556	ENST00000437304	T	0.49139	0.79	5.91	5.07	0.68467	.	.	.	.	.	T	0.29652	0.0740	N	0.08118	0	0.45747	D	0.998648	P	0.39216	0.664	B	0.36989	0.238	T	0.27905	-1.0060	9	0.66056	D	0.02	.	13.3695	0.60705	0.0723:0.0:0.9277:0.0	.	92	E9PAW4	.	Q	92	ENSP00000396008:P92Q	ENSP00000396008:P92Q	P	-	2	0	SORBS2	186835362	0.700000	0.27796	0.005000	0.12908	0.064000	0.16182	3.098000	0.50259	1.505000	0.48720	0.655000	0.94253	CCG	SORBS2	-	NULL	ENSG00000154556		0.483	SORBS2-001	KNOWN	basic|CCDS	protein_coding	SORBS2	HGNC	protein_coding	OTTHUMT00000347944.3		0.00	60	0	G	NM_003603		186598368	-1			no_errors	ENST00000437304	ensembl	human	putative	74_37	missense	5.56	34	2	SNP	0.017	T
SPAG17	200162	genome.wustl.edu	37	1	118642303	118642303	+	Frame_Shift_Del	DEL	G	G	-			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:118642303delG	ENST00000336338.5	-	6	820	c.755delC	c.(754-756)tcafs	p.S252fs		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	252						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATAATTCTCTGAAGATATTTT	0.423																																																	0													112.0	115.0	114.0					1																	118642303		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.755delC	1.37:g.118642303delG	ENSP00000337804:p.Ser252fs		Q8NAZ1|Q9NT21	Frame_Shift_Del	DEL	NULL	p.S252fs	ENST00000336338.5	37	c.755	CCDS899.1	1																																																																																			SPAG17	-	NULL	ENSG00000155761		0.423	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG17	HGNC	protein_coding	OTTHUMT00000033723.1		0.00	56	0	G	NM_206996		118642303	-1	tier1		no_errors	ENST00000336338	ensembl	human	known	74_37	frame_shift_del	5.56	34	2	DEL	1.000	-
SPON1	10418	genome.wustl.edu	37	11	14279344	14279344	+	RNA	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr11:14279344G>T	ENST00000310358.7	+	0	1927							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		AAGGCAAGAGGATGCGACAGC	0.597																																																	0													30.0	35.0	33.0					11																	14279344		2100	4216	6316			0			AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"""spondin 1, (f-spondin) extracellular matrix protein"""			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14279344G>T			A8K6W5|O94862|Q8NCD7|Q8WUR5	RNA	SNP	-	NULL	ENST00000310358.7	37	NULL		11	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791262	0.50102	.	.	ENSG00000152268	ENST00000310358	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.74390	0.3710	.	.	.	0.58432	D	0.999997	D	0.61080	0.989	D	0.64595	0.927	T	0.71500	-0.4574	7	0.26408	T	0.33	.	16.5961	0.84796	0.0:0.0:1.0:0.0	.	464	Q9HCB6	SPON1_HUMAN	S	463	.	ENSP00000309297:R463S	R	+	3	2	SPON1	14235920	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.227000	0.51262	2.530000	0.85305	0.561000	0.74099	AGG	SPON1	-	-	ENSG00000152268		0.597	SPON1-201	KNOWN	basic	processed_transcript	SPON1	HGNC	processed_transcript		-	0.00	120	0	G	NM_145584		14279344	+1	tier1	-	no_errors	ENST00000310358	ensembl	human	known	74_37	rna	6.35	59	4	SNP	1.000	T
SPTA1	6708	genome.wustl.edu	37	1	158606544	158606544	+	Missense_Mutation	SNP	A	A	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:158606544A>T	ENST00000368147.4	-	37	5377	c.5197T>A	c.(5197-5199)Ttg>Atg	p.L1733M		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1733					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACTCGTATCAACTTCTCCCTA	0.473																																																	0													105.0	102.0	103.0					1																	158606544		1878	4114	5992	SO:0001583	missense	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5197T>A	1.37:g.158606544A>T	ENSP00000357129:p.Leu1733Met		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.L1733M	ENST00000368147.4	37	c.5197	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	A	12.31	1.898142	0.33535	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.48836	0.8;1.34	5.13	-1.13	0.09775	.	.	.	.	.	T	0.36220	0.0959	L	0.43152	1.355	0.27353	N	0.956189	D	0.64830	0.994	D	0.70227	0.968	T	0.11891	-1.0569	9	0.41790	T	0.15	.	5.6186	0.17446	0.3697:0.0:0.4708:0.1595	.	1733	P02549	SPTA1_HUMAN	M	1733	ENSP00000357130:L1733M;ENSP00000357129:L1733M	ENSP00000357129:L1733M	L	-	1	2	SPTA1	156873168	0.999000	0.42202	0.672000	0.29872	0.004000	0.04260	0.779000	0.26746	-0.103000	0.12175	-0.421000	0.06004	TTG	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	-	0.00	40	0	A	NM_003126		158606544	-1	tier1	-	no_errors	ENST00000368147	ensembl	human	known	74_37	missense	20.00	20	5	SNP	0.966	T
SSBP2	23635	genome.wustl.edu	37	5	80715885	80715885	+	3'UTR	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:80715885G>T	ENST00000320672.4	-	0	1734				SSBP2_ENST00000509053.1_3'UTR|SSBP2_ENST00000510060.1_5'UTR|SSBP2_ENST00000514493.1_3'UTR|SSBP2_ENST00000505980.1_3'UTR	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2						regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		AATAGTTCAGGGAGGGGGCAG	0.323																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF077048	CCDS4056.1, CCDS58960.1, CCDS58961.1, CCDS58962.1, CCDS58963.1, CCDS75268.1	5q14.1	2012-05-25	2001-11-28		ENSG00000145687	ENSG00000145687			15831	protein-coding gene	gene with protein product		607389	"""single-stranded DNA-binding protein 2"""			11230166, 11042152	Standard	NM_001256732		Approved	HSPC116	uc003khp.4	P81877	OTTHUMG00000119039	ENST00000320672.4:c.*438C>A	5.37:g.80715885G>T			B2R5W1|B7Z1J2|B7Z2L9|B7Z665|D6RH18|E9PB74|E9PDA8|Q8N2Q2|Q9BWW6|Q9Y4T7	RNA	SNP	-	NULL	ENST00000320672.4	37	NULL	CCDS4056.1	5																																																																																			SSBP2	-	-	ENSG00000145687		0.323	SSBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSBP2	HGNC	protein_coding	OTTHUMT00000239249.1	-	0.00	53	0	G	NM_012446		80715885	-1	tier1	-	no_errors	ENST00000510060	ensembl	human	known	74_37	rna	5.88	64	4	SNP	1.000	T
ST6GAL2	84620	genome.wustl.edu	37	2	107423166	107423166	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:107423166G>T	ENST00000409382.3	-	6	2168	c.1558C>A	c.(1558-1560)Cct>Act	p.P520T	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.P520T	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	520					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CTTGGTGCAGGGCAGTGCACC	0.507																																																	0													107.0	101.0	103.0					2																	107423166		2203	4300	6503	SO:0001583	missense	0			AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.1558C>A	2.37:g.107423166G>T	ENSP00000386942:p.Pro520Thr		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl	p.P520T	ENST00000409382.3	37	c.1558	CCDS2073.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.77|12.77	2.038709|2.038709	0.35989|0.35989	.|.	.|.	ENSG00000144057|ENSG00000144057	ENST00000361803|ENST00000361686;ENST00000409382	.|T;T	.|0.14144	.|2.53;2.53	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.212707|0.212707	0.49305|0.49305	D|D	0.000149|0.000149	T|T	0.16981|0.16981	0.0408|0.0408	L|L	0.49699|0.49699	1.58|1.58	0.80722|0.80722	D|D	1|1	.|B	.|0.21606	.|0.058	.|B	.|0.18263	.|0.021	T|T	0.02533|0.02533	-1.1145|-1.1145	6|10	.|0.30854	.|T	.|0.27	-27.8131|-27.8131	19.0512|19.0512	0.93046|0.93046	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|520	.|Q96JF0	.|SIAT2_HUMAN	H|T	85|520	.|ENSP00000355273:P520T;ENSP00000386942:P520T	.|ENSP00000355273:P520T	P|P	-|-	2|1	0|0	ST6GAL2|ST6GAL2	106789598|106789598	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.373000|0.373000	0.29922|0.29922	3.761000|3.761000	0.55242|0.55242	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	CCC|CCT	ST6GAL2	-	NULL	ENSG00000144057		0.507	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ST6GAL2	HGNC	protein_coding	OTTHUMT00000330065.1		0.00	50	0	G	NM_032528		107423166	-1			no_errors	ENST00000361686	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T
STAM	8027	genome.wustl.edu	37	10	17746459	17746459	+	Silent	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:17746459G>T	ENST00000377524.3	+	10	1157	c.942G>T	c.(940-942)ctG>ctT	p.L314L	STAM_ENST00000540523.1_Silent_p.L203L	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	314					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						TACAGATGCTGCAAAGTACAG	0.363																																																	0													136.0	132.0	134.0					10																	17746459		2203	4300	6503	SO:0001819	synonymous_variant	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.942G>T	10.37:g.17746459G>T			B0YJ99|D3DRU5|Q8N6D9	Silent	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.L314	ENST00000377524.3	37	c.942	CCDS7122.1	10																																																																																			STAM	-	NULL	ENSG00000136738		0.363	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAM	HGNC	protein_coding	OTTHUMT00000047039.1	-	0.00	83	0	G	NM_003473		17746459	+1	tier1	-	no_errors	ENST00000377524	ensembl	human	known	74_37	silent	7.55	49	4	SNP	0.992	T
STAT4	6775	genome.wustl.edu	37	2	191897819	191897819	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:191897819G>T	ENST00000392320.2	-	21	2223	c.1909C>A	c.(1909-1911)Cca>Aca	p.P637T	AC067945.4_ENST00000456176.1_RNA|STAT4_ENST00000358470.4_Missense_Mutation_p.P637T	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	637	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TCAGCGAATGGCAGAGCAGAC	0.428																																																	0													108.0	109.0	109.0					2																	191897819		2203	4300	6503	SO:0001583	missense	0				CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.1909C>A	2.37:g.191897819G>T	ENSP00000376134:p.Pro637Thr		Q96NZ6	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.P637T	ENST00000392320.2	37	c.1909	CCDS2310.1	2	.	.	.	.	.	.	.	.	.	.	G	17.61	3.433541	0.62955	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	D;D	0.96104	-3.91;-3.91	5.38	5.38	0.77491	SH2 motif (3);	0.000000	0.85682	D	0.000000	D	0.96513	0.8862	L	0.45352	1.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94984	0.8128	10	0.25751	T	0.34	-66.0907	19.5036	0.95105	0.0:0.0:1.0:0.0	.	546;637;637	Q53S87;B4DV04;Q14765	.;.;STAT4_HUMAN	T	637	ENSP00000351255:P637T;ENSP00000376134:P637T	ENSP00000351255:P637T	P	-	1	0	STAT4	191606064	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.611000	0.67674	2.672000	0.90937	0.650000	0.86243	CCA	STAT4	-	pfscan_SH2	ENSG00000138378		0.428	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STAT4	HGNC	protein_coding	OTTHUMT00000335586.1		0.00	105	0	G	NM_003151		191897819	-1			no_errors	ENST00000358470	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T
SYNE2	23224	genome.wustl.edu	37	14	64596818	64596818	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr14:64596818G>T	ENST00000344113.4	+	76	14404	c.14192G>T	c.(14191-14193)aGc>aTc	p.S4731I	SYNE2_ENST00000358025.3_Missense_Mutation_p.S4731I|SYNE2_ENST00000357395.3_Missense_Mutation_p.S1116I|SYNE2_ENST00000394768.2_Missense_Mutation_p.S1116I|SYNE2_ENST00000555002.1_Missense_Mutation_p.S1365I|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.S4648I	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4731					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACAGAACTCAGCAGCCCTTTC	0.488																																																	0													99.0	87.0	91.0					14																	64596818		2203	4300	6503	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.14192G>T	14.37:g.64596818G>T	ENSP00000341781:p.Ser4731Ile		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S4731I	ENST00000344113.4	37	c.14192	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	7.012	0.556934	0.13436	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.57436	0.77;4.07;0.77;0.4;4.12;4.07	5.82	2.98	0.34508	.	0.187996	0.38326	N	0.001739	T	0.46946	0.1419	L	0.57536	1.79	0.35535	D	0.802552	B;P;P	0.48503	0.419;0.729;0.911	B;B;P	0.44811	0.308;0.222;0.461	T	0.59910	-0.7365	10	0.66056	D	0.02	.	4.8396	0.13483	0.256:0.2979:0.4461:0.0	.	1116;4731;4731	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	I	4731;1116;4731;4648;4648;1365;1116	ENSP00000350719:S4731I;ENSP00000349969:S1116I;ENSP00000341781:S4731I;ENSP00000452570:S4648I;ENSP00000450831:S1365I;ENSP00000378249:S1116I	ENSP00000261678:S4648I	S	+	2	0	SYNE2	63666571	1.000000	0.71417	0.998000	0.56505	0.277000	0.26821	1.820000	0.39032	1.466000	0.48025	0.655000	0.94253	AGC	SYNE2	-	NULL	ENSG00000054654		0.488	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	-	0.00	65	0	G	NM_182914		64596818	+1	tier1	-	no_errors	ENST00000358025	ensembl	human	known	74_37	missense	12.90	27	4	SNP	0.599	T
TBC1D9B	23061	genome.wustl.edu	37	5	179291077	179291077	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:179291077G>A	ENST00000356834.3	-	22	3161	c.3124C>T	c.(3124-3126)Ccc>Tcc	p.P1042S	TBC1D9B_ENST00000519746.1_Missense_Mutation_p.P201S|TBC1D9B_ENST00000444477.2_Missense_Mutation_p.P183S|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.P1025S|TBC1D9B_ENST00000518085.1_5'UTR	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1042						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCTCCATGGGGTCTTCACTG	0.542																																																	0													39.0	35.0	37.0					5																	179291077		2203	4300	6503	SO:0001583	missense	0			AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.3124C>T	5.37:g.179291077G>A	ENSP00000349291:p.Pro1042Ser		D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom	p.P1042S	ENST00000356834.3	37	c.3124	CCDS43408.1	5	.	.	.	.	.	.	.	.	.	.	G	15.11	2.736986	0.49045	.	.	ENSG00000197226	ENST00000356834;ENST00000355235;ENST00000519746;ENST00000444477;ENST00000544438	T;T;T;T	0.42900	2.82;2.82;0.96;1.21	5.36	1.47	0.22746	.	0.063730	0.64402	N	0.000004	T	0.40886	0.1135	M	0.79475	2.455	0.53005	D	0.999969	B;B;B;B;P	0.36909	0.196;0.296;0.196;0.104;0.573	B;B;B;B;B	0.39660	0.128;0.251;0.128;0.132;0.306	T	0.12915	-1.0529	10	0.44086	T	0.13	-14.1985	4.4054	0.11407	0.1372:0.125:0.6083:0.1295	.	1024;1025;1042;241;116	A1L3A9;Q66K14-2;Q66K14;B3KM54;F5H5B8	.;.;TBC9B_HUMAN;.;.	S	1042;1025;201;183;116	ENSP00000349291:P1042S;ENSP00000347375:P1025S;ENSP00000430293:P201S;ENSP00000401585:P183S	ENSP00000347375:P1025S	P	-	1	0	TBC1D9B	179223683	1.000000	0.71417	0.400000	0.26346	0.997000	0.91878	1.436000	0.34980	-0.016000	0.14127	0.462000	0.41574	CCC	TBC1D9B	-	NULL	ENSG00000197226		0.542	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D9B	HGNC	protein_coding	OTTHUMT00000253501.3		0.00	57	0	G	NM_015043		179291077	-1			no_errors	ENST00000356834	ensembl	human	known	74_37	missense	13.04	20	3	SNP	0.998	A
TBX19	9095	genome.wustl.edu	37	1	168260525	168260525	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:168260525G>T	ENST00000367821.3	+	2	382	c.331G>T	c.(331-333)Gct>Tct	p.A111S		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	111					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					ATGGGTGCCCGCTGGCAAGCC	0.592																																																	0													78.0	81.0	80.0					1																	168260525		2203	4300	6503	SO:0001583	missense	0			AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"""T-boxes"""	11596	protein-coding gene	gene with protein product	"""TBS 19"""	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.331G>T	1.37:g.168260525G>T	ENSP00000356795:p.Ala111Ser		Q52M53	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury	p.A111S	ENST00000367821.3	37	c.331	CCDS1272.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.63|17.63	3.438314|3.438314	0.62955|0.62955	.|.	.|.	ENSG00000143178|ENSG00000143178	ENST00000367821;ENST00000367828|ENST00000431969	D|.	0.88741|.	-2.42|.	4.99|4.99	4.99|4.99	0.66335|0.66335	p53-like transcription factor, DNA-binding (1);|.	0.127989|.	0.52532|.	D|.	0.000074|.	T|T	0.46718|0.46718	0.1407|0.1407	L|L	0.31664|0.31664	0.95|0.95	.|.	.|.	.|.	P;D|.	0.58970|.	0.582;0.984|.	P;P|.	0.62089|.	0.563;0.898|.	T|T	0.40997|0.40997	-0.9533|-0.9533	9|4	0.66056|.	D|.	0.02|.	.|.	18.059|18.059	0.89371|0.89371	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	111;42|.	O60806;B3KRD9|.	TBX19_HUMAN;.|.	S|L	111;51|43	ENSP00000356795:A111S|.	ENSP00000356795:A111S|.	A|R	+|+	1|2	0|0	TBX19|TBX19	166527149|166527149	1.000000|1.000000	0.71417|0.71417	0.898000|0.898000	0.35279|0.35279	0.779000|0.779000	0.44077|0.44077	9.125000|9.125000	0.94402|0.94402	2.600000|2.600000	0.87896|0.87896	0.655000|0.655000	0.94253|0.94253	GCT|CGC	TBX19	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_Brachyury	ENSG00000143178		0.592	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX19	HGNC	protein_coding	OTTHUMT00000083825.1	-	0.00	107	0	G	NM_005149		168260525	+1	tier1	-	no_errors	ENST00000367821	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.998	T
TCF25	22980	genome.wustl.edu	37	16	89965019	89965019	+	Frame_Shift_Del	DEL	C	C	-	rs186514766	byFrequency	TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr16:89965019delC	ENST00000263346.8	+	10	1133	c.1077delC	c.(1075-1077)tgcfs	p.C359fs	TCF25_ENST00000263347.7_Frame_Shift_Del_p.C124fs	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	359					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		AGCGAGGCTGCCCGCGCACGG	0.577																																																	0													76.0	88.0	84.0					16																	89965019		2198	4300	6498	SO:0001589	frameshift_variant	0			AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.1077delC	16.37:g.89965019delC	ENSP00000263346:p.Cys359fs		Q2MK75|Q9UPV3	Frame_Shift_Del	DEL	pfam_TCF25	p.P360fs	ENST00000263346.8	37	c.1077	CCDS10987.1	16																																																																																			TCF25	-	pfam_TCF25	ENSG00000141002		0.577	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF25	HGNC	protein_coding	OTTHUMT00000272875.2		0.00	27	0	C	NM_014972		89965019	+1	tier1		no_errors	ENST00000263346	ensembl	human	known	74_37	frame_shift_del	22.22	7	2	DEL	0.994	-
TCOF1	6949	genome.wustl.edu	37	5	149758557	149758557	+	Frame_Shift_Del	DEL	A	A	-			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:149758557delA	ENST00000504761.2	+	15	2430	c.2430delA	c.(2428-2430)ggafs	p.G810fs	TCOF1_ENST00000377797.3_Frame_Shift_Del_p.G810fs|TCOF1_ENST00000445265.2_Frame_Shift_Del_p.G733fs|TCOF1_ENST00000439160.2_Frame_Shift_Del_p.G810fs|TCOF1_ENST00000506063.1_3'UTR|TCOF1_ENST00000323668.7_Frame_Shift_Del_p.G733fs|TCOF1_ENST00000394269.3_Frame_Shift_Del_p.G810fs|TCOF1_ENST00000513346.1_Frame_Shift_Del_p.G810fs|TCOF1_ENST00000451292.1_Frame_Shift_Del_p.G810fs			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	810					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGCCCCTGGAAAAGTTGTCA	0.557																																																	0													81.0	86.0	84.0					5																	149758557		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.2430delA	5.37:g.149758557delA	ENSP00000421655:p.Gly810fs		A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Frame_Shift_Del	DEL	pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS	p.V812fs	ENST00000504761.2	37	c.2430	CCDS54936.1	5																																																																																			TCOF1	-	pfam_TCS_treacle	ENSG00000070814		0.557	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCOF1	HGNC	protein_coding	OTTHUMT00000380552.1		0.00	122	0	A	NM_001008656		149758557	+1	tier1		no_errors	ENST00000451292	ensembl	human	known	74_37	frame_shift_del	5.13	37	2	DEL	0.596	-
TDRD15	100129278	genome.wustl.edu	37	2	21363385	21363385	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:21363385A>G	ENST00000405799.1	+	4	3376	c.3046A>G	c.(3046-3048)Aga>Gga	p.R1016G				B5MCY1	TDR15_HUMAN	tudor domain containing 15	1016	Tudor 5. {ECO:0000255|PROSITE- ProRule:PRU00211}.						hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)										TAATAAAATGAGAGTGTGCAT	0.333																																																	0																																										SO:0001583	missense	0					2p24.1	2013-01-23	2013-01-23	2013-01-23	ENSG00000218819	ENSG00000218819		"""Tudor domain containing"""	45037	protein-coding gene	gene with protein product							Standard	XR_425376		Approved			B5MCY1	OTTHUMG00000151795	ENST00000405799.1:c.3046A>G	2.37:g.21363385A>G	ENSP00000384376:p.Arg1016Gly			Missense_Mutation	SNP	pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor	p.R1016G	ENST00000405799.1	37	c.3046		2	.	.	.	.	.	.	.	.	.	.	A	13.71	2.317031	0.40996	.	.	ENSG00000218819	ENST00000405799	T	0.08720	3.06	5.71	3.23	0.37069	.	.	.	.	.	T	0.07638	0.0192	.	.	.	.	.	.	.	.	.	.	.	.	T	0.25398	-1.0133	5	0.17369	T	0.5	-0.1467	8.8522	0.35206	0.6924:0.2355:0.0721:0.0	.	.	.	.	G	1016	ENSP00000384376:R1016G	ENSP00000384376:R1016G	R	+	1	2	AC010872.2	21216890	0.002000	0.14202	0.992000	0.48379	0.863000	0.49368	0.791000	0.26915	0.992000	0.38840	0.460000	0.39030	AGA	TDRD15	-	pfam_Tudor,smart_Tudor,pfscan_Tudor	ENSG00000218819		0.333	TDRD15-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	TDRD15	HGNC	protein_coding	OTTHUMT00000323948.1	-	0.00	14	0	A			21363385	+1	tier1	-	no_errors	ENST00000405799	ensembl	human	novel	74_37	missense	17.65	28	6	SNP	0.064	G
TECRL	253017	genome.wustl.edu	37	4	65274862	65274862	+	Missense_Mutation	SNP	T	T	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr4:65274862T>A	ENST00000381210.3	-	1	318	c.208A>T	c.(208-210)Agg>Tgg	p.R70W	TECRL_ENST00000507440.1_Missense_Mutation_p.R70W	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	70					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						ATCTGTTTCCTTGTTTGAGCA	0.343																																																	0													52.0	48.0	49.0					4																	65274862		2203	4300	6503	SO:0001583	missense	0			AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.208A>T	4.37:g.65274862T>A	ENSP00000370607:p.Arg70Trp			Missense_Mutation	SNP	pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C	p.R70W	ENST00000381210.3	37	c.208	CCDS33990.1	4	.	.	.	.	.	.	.	.	.	.	T	17.44	3.389331	0.61956	.	.	ENSG00000205678	ENST00000507440;ENST00000381210;ENST00000509536	T;T;T	0.46819	0.86;0.86;0.86	4.99	3.71	0.42584	.	0.117666	0.56097	D	0.000023	T	0.60287	0.2257	M	0.75615	2.305	0.26994	N	0.965075	D;P	0.53885	0.963;0.661	P;B	0.58130	0.833;0.381	T	0.55309	-0.8161	10	0.87932	D	0	-3.1051	9.4264	0.38583	0.0:0.0:0.1785:0.8215	.	70;70	Q6IN47;Q5HYJ1	.;TECRL_HUMAN	W	70	ENSP00000426043:R70W;ENSP00000370607:R70W;ENSP00000422497:R70W	ENSP00000370607:R70W	R	-	1	2	TECRL	64957457	0.990000	0.36364	0.986000	0.45419	0.882000	0.50991	1.811000	0.38942	2.001000	0.58596	0.533000	0.62120	AGG	TECRL	-	NULL	ENSG00000205678		0.343	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TECRL	HGNC	protein_coding	OTTHUMT00000361705.4	-	0.00	36	0	T	NM_001010874		65274862	-1	tier1	-	no_errors	ENST00000381210	ensembl	human	known	74_37	missense	12.87	88	13	SNP	0.826	A
TES	26136	genome.wustl.edu	37	7	115892525	115892525	+	Missense_Mutation	SNP	G	G	T	rs142549105		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr7:115892525G>T	ENST00000358204.4	+	6	1287	c.1072G>T	c.(1072-1074)Gct>Tct	p.A358S	TES_ENST00000537767.1_Missense_Mutation_p.A116S|TES_ENST00000393481.2_Missense_Mutation_p.A349S|AC002066.1_ENST00000446355.2_RNA|AC073130.3_ENST00000444244.1_RNA	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	358	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			GAAGAATCACGCTGTGGTGAG	0.453																																																	0													150.0	138.0	142.0					7																	115892525		2203	4300	6503	SO:0001583	missense	0			AJ250865	CCDS5763.1, CCDS5764.1	7q31.2	2004-04-20			ENSG00000135269	ENSG00000135269			14620	protein-coding gene	gene with protein product		606085				10950921	Standard	NM_015641		Approved	DKFZP586B2022, TESS-2, TESTIN	uc003vho.3	Q9UGI8	OTTHUMG00000023092	ENST00000358204.4:c.1072G>T	7.37:g.115892525G>T	ENSP00000350937:p.Ala358Ser		A4D0U6|Q9GZQ1|Q9HAJ9	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.A358S	ENST00000358204.4	37	c.1072	CCDS5763.1	7	.	.	.	.	.	.	.	.	.	.	G	32	5.180059	0.94846	.	.	ENSG00000135269	ENST00000358204;ENST00000537767;ENST00000257721;ENST00000393481	D;D;D	0.87966	-2.32;-2.32;-2.32	5.5	5.5	0.81552	Zinc finger, LIM-type (2);	0.000000	0.64402	D	0.000001	D	0.88396	0.6425	M	0.67625	2.065	0.80722	D	1	P	0.46512	0.879	B	0.43783	0.431	D	0.89008	0.3426	10	0.54805	T	0.06	-13.0715	19.75	0.96263	0.0:0.0:1.0:0.0	.	358	Q9UGI8	TES_HUMAN	S	358;116;358;349	ENSP00000350937:A358S;ENSP00000441607:A116S;ENSP00000377121:A349S	ENSP00000257721:A358S	A	+	1	0	TES	115679761	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.920000	0.87521	2.749000	0.94314	0.655000	0.94253	GCT	TES	-	pfscan_Znf_LIM	ENSG00000135269		0.453	TES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TES	HGNC	protein_coding	OTTHUMT00000059413.2	-	0.00	98	0	G	NM_015641		115892525	+1	tier1	-	no_errors	ENST00000358204	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T
TEX14	56155	genome.wustl.edu	37	17	56634377	56634377	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr17:56634377C>A	ENST00000240361.8	-	33	4574	c.4489G>T	c.(4489-4491)Gac>Tac	p.D1497Y	TEX14_ENST00000349033.5_Missense_Mutation_p.D1451Y|TEX14_ENST00000584699.1_5'UTR|RP11-112H10.4_ENST00000578022.1_RNA|TEX14_ENST00000389934.3_Missense_Mutation_p.D1491Y|RP11-112H10.4_ENST00000580589.1_RNA			Q8IWB6	TEX14_HUMAN	testis expressed 14	1497					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCAATCAGTCTGACAAGTCA	0.418																																																	0													174.0	139.0	151.0					17																	56634377		2203	4300	6503	SO:0001583	missense	0			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.4489G>T	17.37:g.56634377C>A	ENSP00000240361:p.Asp1497Tyr		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.D1497Y	ENST00000240361.8	37	c.4489	CCDS56042.1	17	.	.	.	.	.	.	.	.	.	.	C	21.8	4.206672	0.79127	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	D;D;D	0.88818	-2.29;-2.29;-2.43	5.53	5.53	0.82687	.	0.353182	0.27966	N	0.017129	D	0.89577	0.6755	N	0.19112	0.55	0.36012	D	0.838162	D;D;D	0.89917	0.999;0.996;1.0	D;D;D	0.68943	0.915;0.939;0.961	D	0.92199	0.5766	10	0.87932	D	0	-5.6551	14.8344	0.70172	0.0:1.0:0.0:0.0	.	1497;1451;1491	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	Y	1497;1491;1451	ENSP00000240361:D1497Y;ENSP00000374584:D1491Y;ENSP00000268910:D1451Y	ENSP00000240361:D1497Y	D	-	1	0	TEX14	53989376	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.274000	0.51631	2.882000	0.98803	0.655000	0.94253	GAC	TEX14	-	NULL	ENSG00000121101		0.418	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX14	HGNC	protein_coding	OTTHUMT00000445446.1	-	0.00	95	0	C			56634377	-1	tier1	-	no_errors	ENST00000240361	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	A
TGFBRAP1	9392	genome.wustl.edu	37	2	105924689	105924689	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:105924689G>T	ENST00000393359.2	-	2	496	c.70C>A	c.(70-72)Cgc>Agc	p.R24S	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.R24S			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	24	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)	p.R24C(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						ATGTTGACGCGCTCCTTGTCG	0.572																																					Esophageal Squamous(183;794 2019 9730 21801 48859)												1	Substitution - Missense(1)	large_intestine(1)											46.0	44.0	45.0					2																	105924689		2203	4300	6503	SO:0001583	missense	0			AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.70C>A	2.37:g.105924689G>T	ENSP00000377027:p.Arg24Ser		A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,pfam_Citron	p.R24S	ENST00000393359.2	37	c.70	CCDS2067.1	2	.	.	.	.	.	.	.	.	.	.	G	6.484	0.457515	0.12342	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	T;T	0.43294	0.95;0.95	4.82	2.06	0.26882	Citron-like (1);	0.373141	0.31601	N	0.007376	T	0.30634	0.0771	L	0.47716	1.5	0.09310	N	1	B	0.16166	0.016	B	0.14023	0.01	T	0.24297	-1.0164	10	0.12103	T	0.63	-10.6517	9.8764	0.41207	0.2602:0.0:0.7398:0.0	.	24	Q8WUH2	TGFA1_HUMAN	S	24	ENSP00000377027:R24S;ENSP00000258449:R24S	ENSP00000258449:R24S	R	-	1	0	TGFBRAP1	105291121	0.999000	0.42202	0.003000	0.11579	0.046000	0.14306	4.037000	0.57311	0.343000	0.23821	-0.140000	0.14226	CGC	TGFBRAP1	-	NULL	ENSG00000135966		0.572	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBRAP1	HGNC	protein_coding	OTTHUMT00000253354.2		0.00	26	0	G	NM_004257		105924689	-1			no_errors	ENST00000258449	ensembl	human	known	74_37	missense	16.67	10	2	SNP	0.039	T
THSD1	55901	genome.wustl.edu	37	13	52972299	52972299	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr13:52972299C>A	ENST00000258613.4	-	3	267	c.89G>T	c.(88-90)aGa>aTa	p.R30I	THSD1_ENST00000349258.4_Missense_Mutation_p.R30I|RNY4P24_ENST00000362735.1_RNA|THSD1_ENST00000544466.1_Intron	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	30					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GCCTGGCTCTCTCAAGAGAAG	0.408																																																	0													111.0	103.0	106.0					13																	52972299		2203	4300	6503	SO:0001583	missense	0			AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.89G>T	13.37:g.52972299C>A	ENSP00000258613:p.Arg30Ile		A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.R30I	ENST00000258613.4	37	c.89	CCDS9432.1	13	.	.	.	.	.	.	.	.	.	.	C	15.83	2.947855	0.53186	.	.	ENSG00000136114	ENST00000349258;ENST00000258613;ENST00000378095	T;T	0.18502	2.21;2.4	5.87	4.08	0.47627	.	0.777057	0.12337	N	0.477865	T	0.10937	0.0267	N	0.14661	0.345	0.41324	D	0.987197	P;P	0.44309	0.755;0.832	B;B	0.41813	0.367;0.352	T	0.12502	-1.0545	10	0.38643	T	0.18	-1.9403	7.0419	0.25025	0.1414:0.7023:0.0:0.1563	.	30;30	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	I	30	ENSP00000340650:R30I;ENSP00000258613:R30I	ENSP00000258613:R30I	R	-	2	0	THSD1	51870300	0.995000	0.38212	0.626000	0.29213	0.894000	0.52154	2.236000	0.43052	0.754000	0.32968	0.655000	0.94253	AGA	THSD1	-	NULL	ENSG00000136114		0.408	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD1	HGNC	protein_coding	OTTHUMT00000045058.3	-	0.00	50	0	C			52972299	-1	tier1	-	no_errors	ENST00000258613	ensembl	human	known	74_37	missense	11.11	24	3	SNP	0.670	A
TIAL1	7073	genome.wustl.edu	37	10	121336675	121336675	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:121336675C>T	ENST00000436547.2	-	10	822	c.778G>A	c.(778-780)Gtg>Atg	p.V260M	TIAL1_ENST00000369092.4_Missense_Mutation_p.V137M|TIAL1_ENST00000369093.2_Missense_Mutation_p.V277M|TIAL1_ENST00000463089.2_5'UTR	NM_003252.3	NP_003243.1	Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	260	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|defense response (GO:0006952)|germ cell development (GO:0007281)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell division (GO:0017145)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		GTACCGTTCACCGAAACAATG	0.338																																																	0													82.0	75.0	77.0					10																	121336675		2203	4300	6503	SO:0001583	missense	0			AL833106	CCDS7613.1, CCDS31295.1	10q	2013-02-12	2001-11-28		ENSG00000151923	ENSG00000151923		"""RNA binding motif (RRM) containing"""	11804	protein-coding gene	gene with protein product		603413	"""TIA1 cytotoxic granule-associated RNA-binding protein-like 1"""			1326761	Standard	XM_005270108		Approved	TIAR	uc001lej.1	Q01085	OTTHUMG00000019156	ENST00000436547.2:c.778G>A	10.37:g.121336675C>T	ENSP00000394902:p.Val260Met		A8K3T0|A8K4L9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.V277M	ENST00000436547.2	37	c.829	CCDS7613.1	10	.	.	.	.	.	.	.	.	.	.	C	18.10	3.547532	0.65311	.	.	ENSG00000151923	ENST00000369093;ENST00000369092;ENST00000436547	T;T;T	0.15139	2.45;2.45;2.45	5.56	5.56	0.83823	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.22126	0.0533	N	0.04724	-0.175	0.80722	D	1	D;D;P;D	0.89917	0.998;1.0;0.559;1.0	D;D;P;D	0.97110	0.996;0.997;0.522;1.0	T	0.32348	-0.9910	10	0.13853	T	0.58	-7.2128	19.5286	0.95215	0.0:1.0:0.0:0.0	.	137;137;277;260	B4DHS3;Q49AS9;A8K4L9;Q01085	.;.;.;TIAR_HUMAN	M	277;137;260	ENSP00000358089:V277M;ENSP00000358088:V137M;ENSP00000394902:V260M	ENSP00000358088:V137M	V	-	1	0	TIAL1	121326665	1.000000	0.71417	0.960000	0.40013	0.894000	0.52154	7.442000	0.80503	2.619000	0.88677	0.591000	0.81541	GTG	TIAL1	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	ENSG00000151923		0.338	TIAL1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAL1	HGNC	protein_coding	OTTHUMT00000050672.2	-	0.00	31	0	C	NM_022333, NM_003252		121336675	-1	tier1	-	no_errors	ENST00000369093	ensembl	human	known	74_37	missense	23.53	26	8	SNP	1.000	T
TIMM44	10469	genome.wustl.edu	37	19	7998370	7998370	+	Splice_Site	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:7998370G>T	ENST00000270538.3	-	7	1037	c.769C>A	c.(769-771)Cgg>Agg	p.R257R	TIMM44_ENST00000598968.1_5'Flank	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	257					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						CTTCACTCACGGTTAAACACC	0.597																																																	0													308.0	262.0	277.0					19																	7998370		2203	4300	6503	SO:0001630	splice_region_variant	0			AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.769+1C>A	19.37:g.7998370G>T			A8K0R9|D6W664|Q8N193	Silent	SNP	pfam_Tim44-like_dom,smart_Tim44-like_dom,pirsf_Tim44,tigrfam_Tim44	p.R257	ENST00000270538.3	37	c.769	CCDS12192.1	19																																																																																			TIMM44	-	pirsf_Tim44,tigrfam_Tim44	ENSG00000104980		0.597	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	TIMM44	HGNC	protein_coding	OTTHUMT00000461596.3	-	0.00	119	0	G		Silent	7998370	-1	tier1	-	no_errors	ENST00000270538	ensembl	human	known	74_37	silent	11.43	31	4	SNP	1.000	T
TLE3	7090	genome.wustl.edu	37	15	70343732	70343732	+	Nonsense_Mutation	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr15:70343732G>A	ENST00000558939.1	-	19	3586	c.2209C>T	c.(2209-2211)Cag>Tag	p.Q737*	TLE3_ENST00000557997.1_Nonsense_Mutation_p.Q729*|TLE3_ENST00000558201.1_Nonsense_Mutation_p.Q743*|TLE3_ENST00000559191.1_Nonsense_Mutation_p.Q318*|TLE3_ENST00000557907.1_Nonsense_Mutation_p.Q729*|TLE3_ENST00000451782.2_Nonsense_Mutation_p.Q734*|TLE3_ENST00000560939.1_Nonsense_Mutation_p.Q739*|TLE3_ENST00000558379.1_Nonsense_Mutation_p.Q732*|TLE3_ENST00000442299.2_Nonsense_Mutation_p.Q729*|TLE3_ENST00000539550.1_Nonsense_Mutation_p.Q664*|TLE3_ENST00000440567.3_Nonsense_Mutation_p.Q727*|TLE3_ENST00000559048.1_Nonsense_Mutation_p.Q737*|TLE3_ENST00000559929.1_Nonsense_Mutation_p.Q747*|TLE3_ENST00000317509.8_Nonsense_Mutation_p.Q725*|TLE3_ENST00000560589.1_Nonsense_Mutation_p.Q681*	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	737					Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGCAGTACCTGGAATATGCTG	0.542																																																	0													55.0	55.0	55.0					15																	70343732		2029	4202	6231	SO:0001587	stop_gained	0			M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"""WD repeat domain containing"""	11839	protein-coding gene	gene with protein product		600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.2209C>T	15.37:g.70343732G>A	ENSP00000452871:p.Gln737*		B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Nonsense_Mutation	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.Q737*	ENST00000558939.1	37	c.2209	CCDS45293.1	15	.	.	.	.	.	.	.	.	.	.	G	42	9.185437	0.99092	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	5.1799	17.358	0.87342	0.0:0.0:1.0:0.0	.	.	.	.	X	729;734;737;727;664	.	ENSP00000319233:Q737X	Q	-	1	0	TLE3	68130786	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	9.538000	0.98072	2.636000	0.89361	0.561000	0.74099	CAG	TLE3	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	ENSG00000140332		0.542	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TLE3	HGNC	protein_coding	OTTHUMT00000416913.1	-	0.00	69	0	G	NM_005078		70343732	-1	tier1	-	no_errors	ENST00000558939	ensembl	human	known	74_37	nonsense	37.93	18	11	SNP	1.000	A
TLE4	7091	genome.wustl.edu	37	9	82336678	82336678	+	Nonsense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:82336678G>T	ENST00000376552.2	+	17	2879	c.1861G>T	c.(1861-1863)Gga>Tga	p.G621*	TLE4_ENST00000376520.4_Nonsense_Mutation_p.G653*|TLE4_ENST00000376534.4_Nonsense_Mutation_p.G258*|TLE4_ENST00000265284.6_Nonsense_Mutation_p.G596*|TLE4_ENST00000376544.3_Nonsense_Mutation_p.G552*|TLE4_ENST00000376537.4_Nonsense_Mutation_p.G653*	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	621					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)	p.G621*(1)|p.G653*(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CCACACAGATGGAGCCAGCTG	0.473																																																	2	Substitution - Nonsense(2)	lung(2)											66.0	65.0	65.0					9																	82336678		2203	4300	6503	SO:0001587	stop_gained	0			M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.1861G>T	9.37:g.82336678G>T	ENSP00000365735:p.Gly621*		F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Nonsense_Mutation	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.G653*	ENST00000376552.2	37	c.1957	CCDS43837.1	9	.	.	.	.	.	.	.	.	.	.	G	49	15.641287	0.99840	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000376537;ENST00000376534;ENST00000265284	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-15.3836	20.5373	0.99239	0.0:0.0:1.0:0.0	.	.	.	.	X	621;552;653;653;258;596	.	ENSP00000265284:G596X	G	+	1	0	TLE4	81526498	1.000000	0.71417	0.998000	0.56505	0.912000	0.54170	9.869000	0.99810	2.857000	0.98124	0.650000	0.86243	GGA	TLE4	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000106829		0.473	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	TLE4	HGNC	protein_coding	OTTHUMT00000052792.4		0.00	86	0	G	XM_212237		82336678	+1			no_errors	ENST00000376520	ensembl	human	known	74_37	nonsense	6.00	47	3	SNP	1.000	T
TM9SF2	9375	genome.wustl.edu	37	13	100153989	100153989	+	Silent	SNP	C	C	G			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr13:100153989C>G	ENST00000376387.4	+	1	319	c.129C>G	c.(127-129)ccC>ccG	p.P43P	LINC00449_ENST00000366259.2_RNA	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	43					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.P43P(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					GCCTGGCGCCCGTCAACTTCT	0.657																																																	1	Substitution - coding silent(1)	endometrium(1)											37.0	42.0	40.0					13																	100153989		2203	4299	6502	SO:0001819	synonymous_variant	0			U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.129C>G	13.37:g.100153989C>G			A8K399|Q2TAY5	Silent	SNP	pfam_EMP70	p.P43	ENST00000376387.4	37	c.129	CCDS9493.1	13																																																																																			TM9SF2	-	NULL	ENSG00000125304		0.657	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM9SF2	HGNC	protein_coding	OTTHUMT00000045602.3	-	0.00	68	0	C			100153989	+1	tier1	-	no_errors	ENST00000376387	ensembl	human	known	74_37	silent	16.67	30	6	SNP	0.986	G
TMEM256-PLSCR3	100529211	genome.wustl.edu	37	17	7296934	7296934	+	Nonsense_Mutation	SNP	C	C	A	rs199962387		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr17:7296934C>A	ENST00000576362.1	-	2	386	c.229G>T	c.(229-231)Gaa>Taa	p.E77*	TMEM256-PLSCR3_ENST00000574401.1_Nonsense_Mutation_p.E77*|TMEM256-PLSCR3_ENST00000324822.11_Nonsense_Mutation_p.E77*|C17orf61-PLSCR3_ENST00000573331.1_3'UTR|TMEM256-PLSCR3_ENST00000576201.1_Nonsense_Mutation_p.E77*|TMEM256-PLSCR3_ENST00000535512.1_Nonsense_Mutation_p.E77*					TMEM256-PLSCR3 readthrough (NMD candidate)									p.E77K(2)									ACCAGGAATTCGAGGCCAGAA	0.682																																																	2	Substitution - Missense(2)	large_intestine(2)											23.0	27.0	26.0					17																	7296934		2024	4160	6184	SO:0001587	stop_gained	0					17p13.1	2013-09-25			ENSG00000187838	ENSG00000187838			49186	other	readthrough							Standard	NR_037719		Approved				OTTHUMG00000178150	ENST00000576362.1:c.229G>T	17.37:g.7296934C>A	ENSP00000460800:p.Glu77*			Nonsense_Mutation	SNP	pfam_Scramblase,superfamily_Tubby_C-like	p.E77*	ENST00000576362.1	37	c.229		17	.	.	.	.	.	.	.	.	.	.	C	37	6.529984	0.97641	.	.	ENSG00000187838	ENST00000535512;ENST00000324822;ENST00000380658	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-13.4048	14.8178	0.70048	0.0:1.0:0.0:0.0	.	.	.	.	X	77	.	ENSP00000316021:E77X	E	-	1	0	PLSCR3	7237658	0.993000	0.37304	0.996000	0.52242	0.949000	0.60115	2.885000	0.48570	2.584000	0.87258	0.462000	0.41574	GAA	TMEM256-PLSCR3	-	pfam_Scramblase	ENSG00000187838		0.682	TMEM256-PLSCR3-008	NOVEL	basic|exp_conf	protein_coding	TMEM256-PLSCR3	HGNC	protein_coding	OTTHUMT00000440808.1		0.00	98	0	C			7296934	-1			no_errors	ENST00000324822	ensembl	human	known	74_37	nonsense	9.09	19	2	SNP	0.984	A
TMEM26	219623	genome.wustl.edu	37	10	63170318	63170318	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:63170318G>A	ENST00000399298.3	-	6	1237	c.869C>T	c.(868-870)gCc>gTc	p.A290V	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	290						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GTTCTTCGCGGCAAAGAACAC	0.502																																																	0													103.0	108.0	107.0					10																	63170318		2114	4229	6343	SO:0001583	missense	0			BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.869C>T	10.37:g.63170318G>A	ENSP00000382237:p.Ala290Val		Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	pfam_Transmembrane_26	p.A290V	ENST00000399298.3	37	c.869	CCDS41530.1	10	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834333	0.91036	.	.	ENSG00000196932	ENST00000399298	.	.	.	5.95	5.95	0.96441	.	0.109707	0.64402	D	0.000011	T	0.66177	0.2763	L	0.33189	0.99	0.80722	D	1	D	0.63046	0.992	P	0.59012	0.85	T	0.66732	-0.5849	9	0.66056	D	0.02	-2.1204	20.3967	0.98985	0.0:0.0:1.0:0.0	.	290	Q6ZUK4	TMM26_HUMAN	V	290	.	ENSP00000382237:A290V	A	-	2	0	TMEM26	62840324	1.000000	0.71417	0.967000	0.41034	0.382000	0.30200	9.416000	0.97383	2.829000	0.97493	0.655000	0.94253	GCC	TMEM26	-	pfam_Transmembrane_26	ENSG00000196932		0.502	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM26	HGNC	protein_coding	OTTHUMT00000359121.1	-	0.00	106	0	G	NM_178505		63170318	-1	tier1	-	no_errors	ENST00000399298	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7577570	7577570	+	Missense_Mutation	SNP	C	C	A	rs587782664		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr17:7577570C>A	ENST00000269305.4	-	7	900	c.711G>T	c.(709-711)atG>atT	p.M237I	TP53_ENST00000413465.2_Missense_Mutation_p.M237I|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.M237I|TP53_ENST00000445888.2_Missense_Mutation_p.M237I|TP53_ENST00000455263.2_Missense_Mutation_p.M237I|TP53_ENST00000420246.2_Missense_Mutation_p.M237I	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	237	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.M237I(109)|p.0?(8)|p.?(5)|p.M144I(4)|p.M237_N239delMCN(4)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233_C242del10(1)|p.M237fs*1(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)	AACTGTTACACATGTAGTTGT	0.567		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	139	Substitution - Missense(113)|Deletion - In frame(8)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)|Insertion - In frame(1)	upper_aerodigestive_tract(23)|ovary(22)|lung(18)|breast(18)|central_nervous_system(11)|haematopoietic_and_lymphoid_tissue(9)|large_intestine(9)|stomach(6)|biliary_tract(5)|bone(5)|oesophagus(4)|urinary_tract(3)|pancreas(2)|thyroid(1)|testis(1)|soft_tissue(1)|liver(1)	GRCh37	CM011014	TP53	M							130.0	102.0	112.0					17																	7577570		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.711G>T	17.37:g.7577570C>A	ENSP00000269305:p.Met237Ile		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.M237I	ENST00000269305.4	37	c.711	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282984	0.80692	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99793	-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77	4.09	3.12	0.35913	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99697	0.9885	M	0.86953	2.85	0.54753	D	0.999982	D;D;D;D;D;D	0.89917	1.0;0.975;0.999;1.0;0.998;1.0	D;P;D;D;D;D	0.91635	0.999;0.864;0.999;0.999;0.999;0.998	D	0.97922	1.0315	10	0.72032	D	0.01	-32.6033	10.0519	0.42221	0.0:0.8993:0.0:0.1007	.	237;237;144;237;237;237	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	I	237;237;237;237;237;237;226;144;105;144	ENSP00000410739:M237I;ENSP00000352610:M237I;ENSP00000269305:M237I;ENSP00000398846:M237I;ENSP00000391127:M237I;ENSP00000391478:M237I;ENSP00000425104:M105I;ENSP00000423862:M144I	ENSP00000269305:M237I	M	-	3	0	TP53	7518295	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	1.305000	0.44909	0.462000	0.41574	ATG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	64	0	C	NM_000546		7577570	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	61.11	14	22	SNP	1.000	A
TPO	7173	genome.wustl.edu	37	2	1488582	1488582	+	Nonsense_Mutation	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:1488582G>A	ENST00000345913.4	+	9	1644	c.1553G>A	c.(1552-1554)tGg>tAg	p.W518*	TPO_ENST00000346956.3_Nonsense_Mutation_p.W518*|TPO_ENST00000329066.4_Nonsense_Mutation_p.W518*|TPO_ENST00000382201.3_Nonsense_Mutation_p.W518*|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000337415.3_Nonsense_Mutation_p.W518*|TPO_ENST00000382198.1_Nonsense_Mutation_p.W345*|TPO_ENST00000349624.3_Nonsense_Mutation_p.W345*	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	518					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCCGGGCTGTGGCTGCACCAG	0.612																																																	0													40.0	42.0	41.0					2																	1488582		2203	4299	6502	SO:0001587	stop_gained	0				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1553G>A	2.37:g.1488582G>A	ENSP00000318820:p.Trp518*		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Nonsense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.W518*	ENST00000345913.4	37	c.1553	CCDS1643.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	18.14|18.14	3.556863|3.556863	0.65425|0.65425	.|.	.|.	ENSG00000115705|ENSG00000115705	ENST00000446278|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607	.|.	.|.	.|.	5.3|5.3	-10.6|-10.6	0.00265|0.00265	.|.	.|2.643940	.|0.00888	.|N	.|0.002218	T|.	0.23649|.	0.0572|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.16247|.	-1.0409|.	4|.	.|0.36615	.|T	.|0.2	-0.0634|-0.0634	2.7079|2.7079	0.05166|0.05166	0.1106:0.3766:0.2098:0.303|0.1106:0.3766:0.2098:0.303	.|.	.|.	.|.	.|.	S|X	50|518;518;518;345;518;518;345;447;49	.|.	.|ENSP00000329869:W518X	G|W	+|+	1|2	0|0	TPO|TPO	1467589|1467589	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.150000|-1.150000	0.03178|0.03178	-3.978000|-3.978000	0.00085|0.00085	-1.117000|-1.117000	0.02048|0.02048	GGC|TGG	TPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000115705		0.612	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	HGNC	protein_coding	OTTHUMT00000206594.2	-	0.00	131	0	G	NM_000547		1488582	+1	tier1	-	no_errors	ENST00000329066	ensembl	human	known	74_37	nonsense	7.27	51	4	SNP	0.000	A
TPRXL	348825	genome.wustl.edu	37	3	14105885	14105885	+	Frame_Shift_Del	DEL	G	G	-			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr3:14105885delG	ENST00000424053.1	+	3	756	c.209delG	c.(208-210)agcfs	p.S73fs	TPRXL_ENST00000532753.1_Intron|TPRXL_ENST00000326972.8_Frame_Shift_Del_p.S73fs|TPRXL_ENST00000429201.1_Frame_Shift_Del_p.S73fs			Q17RH7	TPRXL_HUMAN	tetra-peptide repeat homeobox-like	0	Ser-rich.									endometrium(1)	1						agcagccccagcagcagcagc	0.672																																																	0																																										SO:0001589	frameshift_variant	0			AK092426		3p25.1	2011-06-20			ENSG00000180438	ENSG00000180438		"""Homeoboxes / PRD class"""	32178	pseudogene	pseudogene		611167					Standard	NR_002223		Approved	FLJ35107	uc003byg.3	Q17RH7	OTTHUMG00000155509	ENST00000424053.1:c.209delG	3.37:g.14105885delG	ENSP00000400448:p.Ser73fs		Q8NAM5	Frame_Shift_Del	DEL	NULL	p.S70fs	ENST00000424053.1	37	c.209		3																																																																																			TPRXL	-	NULL	ENSG00000180438		0.672	TPRXL-003	KNOWN	alternative_5_UTR|basic|appris_principal	protein_coding	TPRXL	HGNC	protein_coding	OTTHUMT00000340436.1		0.00	53	0	G	NR_002223		14105885	+1	tier1		no_errors	ENST00000326972	ensembl	human	known	74_37	frame_shift_del	28.57	5	2	DEL	0.947	-
TPTEP1	387590	genome.wustl.edu	37	22	17131536	17131537	+	lincRNA	INS	-	-	CTG	rs34452519|rs145731851	byFrequency	TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr22:17131536_17131537insCTG	ENST00000426585.1	+	0	2562_2563									transmembrane phosphatase with tensin homology pseudogene 1																		TGCCCACTCTTCTGGTCTCATG	0.54														912	0.182109	0.0265	0.0865	5008	,	,		18499	0.2569		0.2256	False		,,,				2504	0.3384																0																																												0					22q11.1	2013-10-15			ENSG00000100181	ENSG00000100181			43648	pseudogene	pseudogene						14659893	Standard	NR_001591		Approved	psiTPTE22	uc002zlr.3		OTTHUMG00000141300		22.37:g.17131537_17131539dupCTG				RNA	INS	-	NULL	ENST00000426585.1	37	NULL		22																																																																																			TPTEP1	-	-	ENSG00000100181		0.540	TPTEP1-002	KNOWN	basic	lincRNA	TPTEP1	HGNC	lincRNA	OTTHUMT00000280575.1		0.00	22	0	0	NR_001591		17131537	+1			no_errors	ENST00000426585	ensembl	human	known	74_37	rna	50.00	3	3	INS	0.999:0.999	CTG
TRIM10	10107	genome.wustl.edu	37	6	30122004	30122004	+	Silent	SNP	C	C	G			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr6:30122004C>G	ENST00000449742.2	-	7	1263	c.1188G>C	c.(1186-1188)ctG>ctC	p.L396L	TRIM10_ENST00000376704.3_Intron	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	396	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			ovary(1)	1						CCTCTGGCCGCAGCCGAAGCT	0.687																																																	0													42.0	31.0	35.0					6																	30122004		1509	2707	4216	SO:0001819	synonymous_variant	0			Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10072	protein-coding gene	gene with protein product		605701	"""tripartite motif-containing 10"""	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.1188G>C	6.37:g.30122004C>G			A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.L396	ENST00000449742.2	37	c.1188	CCDS34375.1	6																																																																																			TRIM10	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000204613		0.687	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM10	HGNC	protein_coding	OTTHUMT00000076634.1		0.00	30	0	C			30122004	-1			no_errors	ENST00000449742	ensembl	human	known	74_37	silent	40.00	3	2	SNP	0.161	G
TRO	7216	genome.wustl.edu	37	X	54957319	54957319	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chrX:54957319G>T	ENST00000173898.7	+	12	4274	c.4162G>T	c.(4162-4164)Ggt>Tgt	p.G1388C	TRO_ENST00000399736.1_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.G991C|TRO_ENST00000375022.4_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.G919C	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1388	62 X 10 AA approximate tandem repeats.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TGGCTTCAGCGGTGGACCGAG	0.612																																																	0													65.0	67.0	66.0					X																	54957319		2037	4184	6221	SO:0001583	missense	0			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.4162G>T	X.37:g.54957319G>T	ENSP00000173898:p.Gly1388Cys		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.G1388C	ENST00000173898.7	37	c.4162	CCDS43959.1	X	.	.	.	.	.	.	.	.	.	.	G	11.45	1.641383	0.29157	.	.	ENSG00000067445	ENST00000173898;ENST00000319179;ENST00000420798;ENST00000375041	T;T;T	0.07688	3.91;3.17;3.55	1.48	-0.998	0.10212	.	.	.	.	.	T	0.16642	0.0400	L	0.48642	1.525	0.09310	N	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	T	0.13791	-1.0496	9	0.87932	D	0	.	4.5971	0.12334	0.3921:0.0:0.6079:0.0	.	991;1388	B1AKE9;Q12816	.;TROP_HUMAN	C	1388;314;919;991	ENSP00000173898:G1388C;ENSP00000405126:G919C;ENSP00000364181:G991C	ENSP00000173898:G1388C	G	+	1	0	TRO	54974044	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-4.125000	0.00290	-0.430000	0.07318	-0.347000	0.07816	GGT	TRO	-	NULL	ENSG00000067445		0.612	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRO	HGNC	protein_coding	OTTHUMT00000056837.3	-	0.00	40	0	G	NM_016157		54957319	+1	tier1	-	no_errors	ENST00000173898	ensembl	human	known	74_37	missense	13.79	25	4	SNP	0.221	T
TRPA1	8989	genome.wustl.edu	37	8	72948523	72948523	+	Splice_Site	SNP	C	C	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr8:72948523C>A	ENST00000262209.4	-	21	2762	c.2555G>T	c.(2554-2556)aGa>aTa	p.R852I	RP11-383H13.1_ENST00000524152.1_Intron|TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	852					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CTTGTTTTACCTTTGAAGATA	0.333																																																	0													50.0	51.0	51.0					8																	72948523		2203	4300	6503	SO:0001630	splice_region_variant	0			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2555+1G>T	8.37:g.72948523C>A			A6NIN6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.R852I	ENST00000262209.4	37	c.2555	CCDS34908.1	8	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674140	0.67928	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.35973	1.28;1.28	4.94	4.94	0.65067	Ion transport (1);	0.000000	0.85682	D	0.000000	T	0.67543	0.2904	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.74315	-0.3705	9	.	.	.	-22.8035	18.5095	0.90910	0.0:1.0:0.0:0.0	.	852	O75762	TRPA1_HUMAN	I	704;852	ENSP00000428151:R704I;ENSP00000262209:R852I	.	R	-	2	0	TRPA1	73111077	1.000000	0.71417	1.000000	0.80357	0.498000	0.33706	5.706000	0.68362	2.437000	0.82529	0.591000	0.81541	AGA	TRPA1	-	pfam_Ion_trans_dom	ENSG00000104321		0.333	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPA1	HGNC	protein_coding	OTTHUMT00000379079.2		0.00	79	0	C	NM_007332	Missense_Mutation	72948523	-1			no_errors	ENST00000262209	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	A
TRPS1	7227	genome.wustl.edu	37	8	116599311	116599311	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr8:116599311C>T	ENST00000220888.5	-	4	2737	c.2578G>A	c.(2578-2580)Gga>Aga	p.G860R	TRPS1_ENST00000519076.1_Missense_Mutation_p.G614R|TRPS1_ENST00000395715.3_Missense_Mutation_p.G873R|TRPS1_ENST00000519674.1_Missense_Mutation_p.G860R|TRPS1_ENST00000520276.1_Missense_Mutation_p.G864R			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	860					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GACTTCTCTCCGCCAGCTGGC	0.567									Langer-Giedion syndrome																																								0													36.0	38.0	38.0					8																	116599311		1817	4070	5887	SO:0001583	missense	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2578G>A	8.37:g.116599311C>T	ENSP00000220888:p.Gly860Arg		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA	p.G873R	ENST00000220888.5	37	c.2617		8	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082222	0.55861	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	D;D;D;D;T	0.98474	-4.95;-4.93;-4.93;-4.93;0.86	5.76	4.88	0.63580	.	0.334388	0.31370	N	0.007761	D	0.95497	0.8537	N	0.19112	0.55	0.36701	D	0.880125	P;P;P	0.51147	0.676;0.72;0.942	B;B;B	0.43301	0.151;0.237;0.415	D	0.97130	0.9817	10	0.87932	D	0	.	15.256	0.73585	0.0:0.9318:0.0:0.0682	.	864;860;873	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	R	873;860;614;864;860	ENSP00000379065:G873R;ENSP00000220888:G860R;ENSP00000428910:G614R;ENSP00000428680:G864R;ENSP00000429174:G860R	ENSP00000220888:G860R	G	-	1	0	TRPS1	116668486	0.901000	0.30685	0.851000	0.33527	0.347000	0.29111	2.769000	0.47654	1.407000	0.46875	0.655000	0.94253	GGA	TRPS1	-	NULL	ENSG00000104447		0.567	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	HGNC	protein_coding	OTTHUMT00000286436.3		0.00	59	0	C	NM_014112		116599311	-1			no_errors	ENST00000395715	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.992	T
TTLL10	254173	genome.wustl.edu	37	1	1119336	1119336	+	Silent	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:1119336G>A	ENST00000379290.1	+	12	1298	c.1125G>A	c.(1123-1125)aaG>aaA	p.K375K	TTLL10_ENST00000379288.3_Silent_p.K302K|TTLL10_ENST00000379289.1_Silent_p.K375K			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	375	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACGGGAGAAAGTTTGACGTGC	0.627																																																	0													368.0	295.0	320.0					1																	1119336		2203	4300	6503	SO:0001819	synonymous_variant	0			AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"""Tubulin tyrosine ligase-like family"""	26693	protein-coding gene	gene with protein product			"""tubulin tyrosine ligase-like family, member 5"""	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.1125G>A	1.37:g.1119336G>A			B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	Silent	SNP	pfam_TTL/TTLL_fam	p.K375	ENST00000379290.1	37	c.1125	CCDS44036.1	1																																																																																			TTLL10	-	pfam_TTL/TTLL_fam	ENSG00000162571		0.627	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL10	HGNC	protein_coding	OTTHUMT00000002421.3	-	0.00	82	0	G	NM_153254		1119336	+1	tier1	-	no_errors	ENST00000379289	ensembl	human	known	74_37	silent	32.61	31	15	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179640730	179640730	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:179640730G>T	ENST00000591111.1	-	28	6085	c.5861C>A	c.(5860-5862)cCa>cAa	p.P1954Q	TTN_ENST00000342175.6_Missense_Mutation_p.P1908Q|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P1908Q|TTN_ENST00000460472.2_Missense_Mutation_p.P1908Q|TTN_ENST00000360870.5_Missense_Mutation_p.P1954Q|TTN_ENST00000589042.1_Missense_Mutation_p.P1954Q|TTN-AS1_ENST00000610005.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P1954Q			Q8WZ42	TITIN_HUMAN	titin	12781					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGCTTTCCTGGTTCATGTAC	0.418																																																	0													169.0	174.0	172.0					2																	179640730		2203	4300	6503	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5861C>A	2.37:g.179640730G>T	ENSP00000465570:p.Pro1954Gln		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.P1954Q	ENST00000591111.1	37	c.5861		2	.	.	.	.	.	.	.	.	.	.	G	11.79	1.745196	0.30955	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.62498	0.02;0.25;0.24;0.23;0.38	5.1	5.1	0.69264	Ribonuclease H-like (1);	.	.	.	.	T	0.67373	0.2886	L	0.27053	0.805	0.36721	D	0.881194	P;P;P;P;D	0.55800	0.693;0.693;0.693;0.954;0.973	B;B;P;P;P	0.59546	0.331;0.331;0.49;0.617;0.859	T	0.75744	-0.3210	9	0.87932	D	0	.	18.5142	0.90930	0.0:0.0:1.0:0.0	.	1908;1908;1908;1954;1954	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Q	1954;1908;1908;1908;1908;1954	ENSP00000343764:P1954Q;ENSP00000434586:P1908Q;ENSP00000340554:P1908Q;ENSP00000352154:P1908Q;ENSP00000354117:P1954Q	ENSP00000340554:P1908Q	P	-	2	0	TTN	179348975	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	6.561000	0.73955	2.385000	0.81259	0.609000	0.83330	CCA	TTN	-	superfamily_RNaseH-like_dom	ENSG00000155657		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0.00	54	0	G	NM_133378		179640730	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T
UBE2U	148581	genome.wustl.edu	37	1	64680571	64680571	+	Missense_Mutation	SNP	C	C	T	rs542139617		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:64680571C>T	ENST00000371076.3	+	5	657	c.413C>T	c.(412-414)tCt>tTt	p.S138F		NM_152489.1	NP_689702.1	Q5VVX9	UBE2U_HUMAN	ubiquitin-conjugating enzyme E2U (putative)	138					protein ubiquitination (GO:0016567)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			large_intestine(3)|lung(2)|skin(1)	6						AAAGATGAATCTCTGTACAGA	0.383																																																	0													103.0	107.0	105.0					1																	64680571		2203	4300	6503	SO:0001583	missense	0			BC029895	CCDS627.1	1p31.3	2008-02-05			ENSG00000177414	ENSG00000177414		"""Ubiquitin-conjugating enzymes E2"""	28559	protein-coding gene	gene with protein product						12477932	Standard	NM_152489		Approved	MGC35130	uc001dbn.1	Q5VVX9	OTTHUMG00000009023	ENST00000371076.3:c.413C>T	1.37:g.64680571C>T	ENSP00000360116:p.Ser138Phe		Q8N1D4	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.S138F	ENST00000371076.3	37	c.413	CCDS627.1	1	.	.	.	.	.	.	.	.	.	.	C	8.702	0.909867	0.17833	.	.	ENSG00000177414	ENST00000371077;ENST00000371076	T;T	0.38887	1.11;1.11	4.49	0.118	0.14667	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	1.335470	0.05211	N	0.506688	T	0.16896	0.0406	L	0.56769	1.78	0.09310	N	1	P	0.48407	0.91	B	0.38156	0.266	T	0.18493	-1.0335	10	0.66056	D	0.02	.	3.0079	0.06034	0.3102:0.4446:0.1516:0.0936	.	138	Q5VVX9	UBE2U_HUMAN	F	138	ENSP00000360117:S138F;ENSP00000360116:S138F	ENSP00000360116:S138F	S	+	2	0	UBE2U	64453159	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.091000	0.11146	0.075000	0.16796	-0.266000	0.10368	TCT	UBE2U	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000177414		0.383	UBE2U-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2U	HGNC	protein_coding	OTTHUMT00000025005.1	-	0.00	45	0	C	NM_152489		64680571	+1	tier1	-	no_errors	ENST00000371076	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.000	T
UAP1	6675	genome.wustl.edu	37	1	162569093	162569093	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:162569093C>A	ENST00000367925.1	+	10	1541	c.1509C>A	c.(1507-1509)ttC>ttA	p.F503L	UAP1_ENST00000367924.1_Missense_Mutation_p.F502L|UAP1_ENST00000271469.3_Missense_Mutation_p.F503L|UAP1_ENST00000367926.4_Missense_Mutation_p.F486L			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	503					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)	p.F486F(1)		breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			ATAAAGAATTCCATGCACCTC	0.373																																																	1	Substitution - coding silent(1)	stomach(1)											98.0	92.0	94.0					1																	162569093		2203	4300	6503	SO:0001583	missense	0			AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.1509C>A	1.37:g.162569093C>A	ENSP00000356902:p.Phe503Leu		B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Missense_Mutation	SNP	pfam_UDPGP_trans	p.F503L	ENST00000367925.1	37	c.1509		1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.334606	0.60853	.	.	ENSG00000117143	ENST00000367926;ENST00000271469;ENST00000367925;ENST00000367924	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	5.55	2.72	0.32119	.	0.000000	0.85682	D	0.000000	T	0.07369	0.0186	L	0.56769	1.78	0.54753	D	0.999980	B	0.32203	0.36	B	0.32211	0.142	T	0.11108	-1.0601	9	0.39692	T	0.17	-17.7282	10.0722	0.42339	0.0:0.7809:0.0:0.2191	.	486	Q16222-2	.	L	486;503;503;502	ENSP00000356903:F486L;ENSP00000271469:F503L;ENSP00000356902:F503L;ENSP00000356901:F502L	ENSP00000271469:F503L	F	+	3	2	UAP1	160835717	0.977000	0.34250	1.000000	0.80357	0.986000	0.74619	0.116000	0.15561	0.330000	0.23485	-0.736000	0.03550	TTC	UAP1	-	NULL	ENSG00000117143		0.373	UAP1-002	KNOWN	basic	protein_coding	UAP1	HGNC	protein_coding	OTTHUMT00000083203.1		0.00	44	0	C	NM_003115		162569093	+1			no_errors	ENST00000271469	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	A
UGT1A1	54658	genome.wustl.edu	37	2	234669545	234669545	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr2:234669545G>T	ENST00000608383.1	+	1	612	c.612G>T	c.(610-612)atG>atT	p.M204I	UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000360418.3_Missense_Mutation_p.M204I|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A8_ENST00000305208.5_Missense_Mutation_p.M204I|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron			P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	204					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	CAGATCACATGACCTTCCTGC	0.527																																																	0													179.0	171.0	174.0					2																	234669545		2203	4300	6503	SO:0001583	missense	0			M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000608383.1:c.612G>T	2.37:g.234669545G>T	ENSP00000476741:p.Met204Ile		A6NJC3|B8K286	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.M204I	ENST00000608383.1	37	c.612	CCDS2510.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.463986	0.96257	.	.	ENSG00000241635	ENST00000305208;ENST00000360418	T;T	0.62232	0.04;0.04	6.03	6.03	0.97812	.	.	.	.	.	D	0.87692	0.6241	H	0.97540	4.025	0.54753	D	0.999987	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.984	D	0.90952	0.4806	9	0.87932	D	0	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	204;204	A6NJC3;P22309	.;UD11_HUMAN	I	204	ENSP00000304845:M204I;ENSP00000353593:M204I	ENSP00000304845:M204I	M	+	3	0	UGT1A1	234334284	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.819000	0.99357	2.861000	0.98227	0.655000	0.94253	ATG	UGT1A8	-	pfam_UDP_glucos_trans	ENSG00000242366		0.527	UGT1A1-203	KNOWN	basic|CCDS	protein_coding	UGT1A8	HGNC	protein_coding		-	0.00	86	0	G			234669545	+1	tier1	-	no_errors	ENST00000305208	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T
UNCX	340260	genome.wustl.edu	37	7	1273298	1273298	+	Silent	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr7:1273298G>A	ENST00000316333.8	+	2	528	c.417G>A	c.(415-417)gcG>gcA	p.A139A		NM_001080461.1	NP_001073930.1	A6NJT0	UNC4_HUMAN	UNC homeobox	139					cartilage condensation (GO:0001502)|common myeloid progenitor cell proliferation (GO:0035726)|dorsal spinal cord development (GO:0021516)|olfactory bulb interneuron differentiation (GO:0021889)|pattern specification process (GO:0007389)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(2)|skin(1)|upper_aerodigestive_tract(1)	4		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		AGGCGCTGGCGCTGCGCCTAG	0.682																																																	0													46.0	49.0	48.0					7																	1273298		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34583.1	7p22.3	2011-06-20			ENSG00000164853	ENSG00000164853		"""Homeoboxes / PRD class"""	33194	protein-coding gene	gene with protein product							Standard	NM_001080461		Approved	Uncx4.1	uc011jvw.2	A6NJT0	OTTHUMG00000152022	ENST00000316333.8:c.417G>A	7.37:g.1273298G>A			A4D221	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.A139	ENST00000316333.8	37	c.417	CCDS34583.1	7																																																																																			UNCX	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000164853		0.682	UNCX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	UNCX	HGNC	protein_coding	OTTHUMT00000324910.2	-	0.00	180	0	G	NM_001080461		1273298	+1	tier1	-	no_errors	ENST00000316333	ensembl	human	known	74_37	silent	51.61	15	16	SNP	0.998	A
UNKL	64718	genome.wustl.edu	37	16	1419982	1419982	+	Intron	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr16:1419982G>T	ENST00000389221.4	-	12	1576				UNKL_ENST00000403703.1_Intron|UNKL_ENST00000248104.7_Missense_Mutation_p.P9Q|UNKL_ENST00000397464.1_Intron|UNKL_ENST00000402641.2_Intron|UNKL_ENST00000508903.2_Intron|UNKL_ENST00000391893.2_Missense_Mutation_p.P9Q	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				tctGCGGCGTGGGGGAACCTG	0.622																																																	0													79.0	102.0	95.0					16																	1419982		692	1591	2283	SO:0001627	intron_variant	0			BC011924	CCDS32359.1, CCDS53980.1, CCDS61787.1	16p13.3	2014-03-10	2013-10-17		ENSG00000059145	ENSG00000059145		"""Zinc fingers, CCCH-type domain containing"""	14184	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 28"", ""unkempt homolog (Drosophila)-like"""	C16orf28		20148946	Standard	NM_001193389		Approved	ZC3HDC5L, ZC3H5L, FLJ23360	uc031qup.1	Q9H9P5	OTTHUMG00000128553	ENST00000389221.4:c.1576+148C>A	16.37:g.1419982G>T			B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Missense_Mutation	SNP	pfscan_Znf_RING	p.P9Q	ENST00000389221.4	37	c.26	CCDS53981.1	16	.	.	.	.	.	.	.	.	.	.	g	7.384	0.629367	0.14257	.	.	ENSG00000059145	ENST00000248104;ENST00000391893	.	.	.	.	.	.	.	.	.	.	.	T	0.34658	0.0905	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29761	-1.0001	3	0.41790	T	0.15	.	.	.	.	.	9	Q9H9P5-3	.	Q	9	.	ENSP00000248104:P9Q	P	-	2	0	UNKL	1359983	0.010000	0.17322	0.028000	0.17463	0.027000	0.11550	0.444000	0.21661	0.162000	0.19483	0.165000	0.16767	CCA	UNKL	-	NULL	ENSG00000059145		0.622	UNKL-201	KNOWN	basic|CCDS	protein_coding	UNKL	HGNC	protein_coding		-	0.00	84	0	G	NM_001037125		1419982	-1	tier1	-	no_errors	ENST00000248104	ensembl	human	known	74_37	missense	16.67	15	3	SNP	0.030	T
VAV1	7409	genome.wustl.edu	37	19	6829897	6829897	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:6829897G>T	ENST00000602142.1	+	14	1448	c.1366G>T	c.(1366-1368)Gat>Tat	p.D456Y	VAV1_ENST00000539284.1_Missense_Mutation_p.D359Y|VAV1_ENST00000596764.1_Missense_Mutation_p.D424Y|VAV1_ENST00000304076.2_Missense_Mutation_p.D456Y|VAV1_ENST00000599806.1_Missense_Mutation_p.D401Y	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	456	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCAGGTTCGGGATGACTCTTC	0.557																																																	0													129.0	111.0	117.0					19																	6829897		2203	4300	6503	SO:0001583	missense	0				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1366G>T	19.37:g.6829897G>T	ENSP00000472929:p.Asp456Tyr		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin	p.D456Y	ENST00000602142.1	37	c.1366	CCDS12174.1	19	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429409	0.62844	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	D;D	0.89681	-2.55;-2.55	4.92	4.92	0.64577	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.93756	0.8004	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.989;0.999	D;D;D;D	0.91635	0.999;0.999;0.965;0.983	D	0.94390	0.7613	10	0.87932	D	0	.	15.9747	0.80054	0.0:0.0:1.0:0.0	.	359;456;401;456	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	Y	456;359	ENSP00000302269:D456Y;ENSP00000443242:D359Y	ENSP00000302269:D456Y	D	+	1	0	VAV1	6780897	1.000000	0.71417	0.984000	0.44739	0.630000	0.37929	3.309000	0.51903	2.444000	0.82710	0.655000	0.94253	GAT	VAV1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000141968		0.557	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV1	HGNC	protein_coding	OTTHUMT00000458475.1	-	0.00	67	0	G			6829897	+1	tier1	-	no_errors	ENST00000602142	ensembl	human	known	74_37	missense	19.35	25	6	SNP	0.998	T
VCAN	1462	genome.wustl.edu	37	5	82834534	82834534	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr5:82834534G>T	ENST00000265077.3	+	8	6277	c.5712G>T	c.(5710-5712)agG>agT	p.R1904S	VCAN_ENST00000343200.5_Missense_Mutation_p.R917S|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1904	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AAACATCCAGGGAAATAGTGA	0.433																																																	0													103.0	110.0	107.0					5																	82834534		2203	4300	6503	SO:0001583	missense	0			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.5712G>T	5.37:g.82834534G>T	ENSP00000265077:p.Arg1904Ser		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.R1904S	ENST00000265077.3	37	c.5712	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	G	8.910	0.958560	0.18507	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.84800	-1.87;-1.9;3.23	6.02	2.02	0.26589	.	0.467087	0.21777	N	0.069273	T	0.72985	0.3529	L	0.29908	0.895	0.09310	N	0.999995	B;B	0.28933	0.228;0.146	B;B	0.21917	0.037;0.024	T	0.58651	-0.7599	10	0.30078	T	0.28	.	9.2603	0.37608	0.292:0.0:0.708:0.0	.	917;1904	P13611-2;P13611	.;CSPG2_HUMAN	S	1904;917;917	ENSP00000265077:R1904S;ENSP00000340062:R917S;ENSP00000426251:R917S	ENSP00000265077:R1904S	R	+	3	2	VCAN	82870290	0.008000	0.16893	0.339000	0.25562	0.045000	0.14185	1.129000	0.31381	0.369000	0.24510	0.655000	0.94253	AGG	VCAN	-	NULL	ENSG00000038427		0.433	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3		0.00	72	0	G	NM_004385		82834534	+1			no_errors	ENST00000265077	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.005	T
VCP	7415	genome.wustl.edu	37	9	35059171	35059171	+	Nonsense_Mutation	SNP	C	C	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr9:35059171C>A	ENST00000358901.6	-	15	2945	c.2050G>T	c.(2050-2052)Gga>Tga	p.G684*		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	684					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGGTCAGCTCCAGAGAAGCCA	0.512																																																	0													96.0	90.0	92.0					9																	35059171		2203	4300	6503	SO:0001587	stop_gained	0			AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.2050G>T	9.37:g.35059171C>A	ENSP00000351777:p.Gly684*		B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Nonsense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48	p.G684*	ENST00000358901.6	37	c.2050	CCDS6573.1	9	.	.	.	.	.	.	.	.	.	.	C	47	13.432581	0.99741	.	.	ENSG00000165280	ENST00000358901	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-44.3112	20.0591	0.97667	0.0:1.0:0.0:0.0	.	.	.	.	X	684	.	ENSP00000351777:G684X	G	-	1	0	VCP	35049171	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.747000	0.94245	0.462000	0.41574	GGA	VCP	-	superfamily_P-loop_NTPase,tigrfam_AAA_ATPase_CDC48	ENSG00000165280		0.512	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCP	HGNC	protein_coding	OTTHUMT00000052290.1	-	0.00	152	0	C	NM_007126		35059171	-1	tier1	-	no_errors	ENST00000358901	ensembl	human	known	74_37	nonsense	6.35	59	4	SNP	1.000	A
VENTX	27287	genome.wustl.edu	37	10	135053543	135053543	+	Silent	SNP	C	C	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:135053543C>T	ENST00000325980.9	+	3	1021	c.510C>T	c.(508-510)taC>taT	p.Y170Y		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	170					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		CAGCTTTCTACTCAACGTCTT	0.632																																																	0													45.0	49.0	48.0					10																	135053543		2202	4300	6502	SO:0001819	synonymous_variant	0			AF068006	CCDS7675.1	10q26.3	2011-06-20	2011-06-01	2005-09-27	ENSG00000151650	ENSG00000151650		"""Homeoboxes / ANTP class : NKL subclass"""	13639	protein-coding gene	gene with protein product		607158	"""VENT-like homeobox 2"", ""VENT homeobox homolog (Xenopus laevis)"""	VENTX2		10790436	Standard	NM_014468		Approved	HPX42B	uc010quy.1	O95231	OTTHUMG00000019307	ENST00000325980.9:c.510C>T	10.37:g.135053543C>T			Q32MZ3	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.Y170	ENST00000325980.9	37	c.510	CCDS7675.1	10																																																																																			VENTX	-	NULL	ENSG00000151650		0.632	VENTX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VENTX	HGNC	protein_coding	OTTHUMT00000051116.4	-	0.00	138	0	C	NM_014468		135053543	+1	tier1	-	no_errors	ENST00000325980	ensembl	human	known	74_37	silent	46.77	33	29	SNP	0.003	T
VIPAS39	63894	genome.wustl.edu	37	14	77917611	77917611	+	Missense_Mutation	SNP	G	G	C			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr14:77917611G>C	ENST00000553888.1	-	4	772	c.262C>G	c.(262-264)Cta>Gta	p.L88V	VIPAS39_ENST00000448935.2_Intron|VIPAS39_ENST00000327028.4_Missense_Mutation_p.L88V|VIPAS39_ENST00000557658.1_Missense_Mutation_p.L88V|VIPAS39_ENST00000343765.2_Missense_Mutation_p.L88V|VIPAS39_ENST00000556412.1_Missense_Mutation_p.L114V	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	88					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)											CGGCTCTTTAGCTGTTCACGC	0.468																																																	0													303.0	235.0	258.0					14																	77917611		2203	4300	6503	SO:0001583	missense	0			AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"""VPS33B interacting protein, apical-basolateral polarity regulator"""	613401	"""chromosome 14 open reading frame 133"""	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.262C>G	14.37:g.77917611G>C	ENSP00000452181:p.Leu88Val		B4DPI6|O95434|Q9H7E1|Q9H9I9	Missense_Mutation	SNP	pfam_Golgin_subfamily_A_member_5	p.L88V	ENST00000553888.1	37	c.262	CCDS9862.1	14	.	.	.	.	.	.	.	.	.	.	g	1.511	-0.549499	0.03996	.	.	ENSG00000151445	ENST00000343765;ENST00000553888;ENST00000327028;ENST00000557658;ENST00000556412	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.09	3.27	0.37495	.	0.475735	0.23496	N	0.047543	T	0.26304	0.0642	N	0.22421	0.69	0.26368	N	0.976944	B	0.23735	0.09	B	0.28385	0.089	T	0.23440	-1.0188	10	0.11182	T	0.66	-6.4903	9.6858	0.40098	0.2252:0.0:0.7748:0.0	.	88	Q9H9C1	VIPAR_HUMAN	V	88;88;88;88;114	ENSP00000339122:L88V;ENSP00000452181:L88V;ENSP00000313098:L88V;ENSP00000452191:L88V;ENSP00000451857:L114V	ENSP00000313098:L88V	L	-	1	2	VIPAR	76987364	1.000000	0.71417	0.870000	0.34147	0.551000	0.35334	1.386000	0.34419	0.571000	0.29365	-0.213000	0.12676	CTA	VIPAS39	-	pfam_Golgin_subfamily_A_member_5	ENSG00000151445		0.468	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIPAS39	HGNC	protein_coding	OTTHUMT00000414008.1	-	0.00	143	0	G	NM_022067		77917611	-1	tier1	-	no_errors	ENST00000343765	ensembl	human	known	74_37	missense	26.23	45	16	SNP	0.894	C
VPS26A	9559	genome.wustl.edu	37	10	70931013	70931013	+	Missense_Mutation	SNP	G	G	T	rs148524150	byFrequency	TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:70931013G>T	ENST00000373382.1	+	10	1625	c.972G>T	c.(970-972)caG>caT	p.Q324H	VPS26A_ENST00000263559.6_Missense_Mutation_p.Q324H|VPS26A_ENST00000546041.1_Missense_Mutation_p.Q307H|VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000489794.1_3'UTR|VPS26A_ENST00000541711.1_Missense_Mutation_p.Q213H|VPS26A_ENST00000395098.1_3'UTR			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	324					retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|vesicle (GO:0031982)	protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						CTGCCGAACAGCCTGAAATGT	0.408																																					Colon(90;545 1358 4729 6702 16773)												0													63.0	71.0	68.0					10																	70931013		2202	4300	6502	SO:0001583	missense	0			AF054179	CCDS7286.1, CCDS41536.1	10q21.1	2007-01-12	2007-01-12	2005-10-11	ENSG00000122958	ENSG00000122958			12711	protein-coding gene	gene with protein product		605506	"""vacuolar protein sorting 26 (yeast homolog)"", ""vacuolar protein sorting 26 (yeast)"", ""vacuolar protein sorting 26 homolog A (yeast)"""	VPS26		1638986, 9653160	Standard	NM_004896		Approved	Hbeta58, PEP8A	uc001jpb.3	O75436	OTTHUMG00000018376	ENST00000373382.1:c.972G>T	10.37:g.70931013G>T	ENSP00000362480:p.Gln324His		A8MZ56|B2RDD3|Q8TBH4|Q9H982	Missense_Mutation	SNP	pfam_VPS26	p.Q324H	ENST00000373382.1	37	c.972	CCDS7286.1	10	.	.	.	.	.	.	.	.	.	.	G	12.48	1.952109	0.34471	.	.	ENSG00000122958	ENST00000373382;ENST00000263559;ENST00000546041;ENST00000541711	.	.	.	5.14	5.14	0.70334	.	0.052466	0.85682	D	0.000000	T	0.38295	0.1035	N	0.08118	0	0.58432	D	0.999999	P;B	0.44195	0.828;0.0	P;B	0.45138	0.471;0.001	T	0.41342	-0.9514	9	0.52906	T	0.07	-10.6587	13.3175	0.60415	0.0762:0.0:0.9238:0.0	.	307;324	F5H4L7;O75436	.;VP26A_HUMAN	H	324;324;307;213	.	ENSP00000263559:Q324H	Q	+	3	2	VPS26A	70601019	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.439000	0.59968	2.550000	0.86006	0.467000	0.42956	CAG	VPS26A	-	NULL	ENSG00000122958		0.408	VPS26A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS26A	HGNC	protein_coding	OTTHUMT00000048403.1		0.00	107	0	G	NM_004896		70931013	+1			no_errors	ENST00000263559	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T
VPS37A	137492	genome.wustl.edu	37	8	17132397	17132397	+	Missense_Mutation	SNP	C	C	G			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr8:17132397C>G	ENST00000324849.4	+	5	1246	c.572C>G	c.(571-573)cCt>cGt	p.P191R	VPS37A_ENST00000521829.1_Missense_Mutation_p.P166R	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	191					cell death (GO:0008219)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		ACAGCCAAGCCTGCCGCTCCT	0.438																																																	0													133.0	119.0	124.0					8																	17132397		2203	4300	6503	SO:0001583	missense	0				CCDS6001.1, CCDS47811.1	8p22	2012-06-29	2006-04-04		ENSG00000155975	ENSG00000155975			24928	protein-coding gene	gene with protein product	"""hepatocellular carcinoma related protein 1"""	609927	"""vacuolar protein sorting 37A (yeast)"", ""polyglutamine binding protein 2"""	PQBP2		15240819, 15218037, 22717650	Standard	NM_152415		Approved	FLJ32642, HCRP1, SPG53	uc003wxj.3	Q8NEZ2	OTTHUMG00000130785	ENST00000324849.4:c.572C>G	8.37:g.17132397C>G	ENSP00000318629:p.Pro191Arg		Q336D5|Q6NW27|Q8N3D7|Q8TBL7|Q96DL9	Missense_Mutation	SNP	pfam_Mod_r,superfamily_UBQ-conjugating_enzyme/RWD	p.P191R	ENST00000324849.4	37	c.572	CCDS6001.1	8	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802075	0.50315	.	.	ENSG00000155975	ENST00000324849;ENST00000521829	T;T	0.61274	0.12;0.23	4.25	4.25	0.50352	.	0.483409	0.22876	N	0.054580	T	0.55146	0.1902	L	0.44542	1.39	0.80722	D	1	D;P	0.53151	0.958;0.93	P;B	0.45506	0.483;0.289	T	0.56565	-0.7958	10	0.35671	T	0.21	-8.3031	18.0187	0.89249	0.0:1.0:0.0:0.0	.	166;191	Q8NEZ2-2;Q8NEZ2	.;VP37A_HUMAN	R	191;166	ENSP00000318629:P191R;ENSP00000429680:P166R	ENSP00000318629:P191R	P	+	2	0	VPS37A	17176768	0.980000	0.34600	0.610000	0.28997	0.710000	0.40934	3.302000	0.51849	2.667000	0.90743	0.579000	0.79373	CCT	VPS37A	-	NULL	ENSG00000155975		0.438	VPS37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS37A	HGNC	protein_coding	OTTHUMT00000253301.2	-	0.00	51	0	C	NM_152415		17132397	+1	tier1	-	no_errors	ENST00000324849	ensembl	human	known	74_37	missense	71.74	13	33	SNP	0.972	G
VPS28	51160	genome.wustl.edu	37	8	145649383	145649383	+	Intron	SNP	C	C	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr8:145649383C>T	ENST00000526054.1	-	8	586				VPS28_ENST00000292510.4_Intron|VPS28_ENST00000529182.1_Missense_Mutation_p.E197K|VPS28_ENST00000526734.1_5'Flank|VPS28_ENST00000377348.2_Missense_Mutation_p.E197K			Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)						endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|negative regulation of protein ubiquitination (GO:0031397)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GGGAGGGTCTCGGGCACTGCG	0.706																																																	0													40.0	49.0	46.0					8																	145649383		2200	4297	6497	SO:0001627	intron_variant	0			AF316887	CCDS6425.1, CCDS34967.1	8q24.3	2014-08-12	2006-04-04		ENSG00000160948	ENSG00000160948			18178	protein-coding gene	gene with protein product		611952	"""vacuolar protein sorting 28 (yeast)"""				Standard	NM_183057		Approved		uc003zct.1	Q9UK41	OTTHUMG00000165209	ENST00000526054.1:c.548+40G>A	8.37:g.145649383C>T			Q86VK0	Missense_Mutation	SNP	pfam_VPS28,pirsf_VPS28	p.E197K	ENST00000526054.1	37	c.589	CCDS6425.1	8	.	.	.	.	.	.	.	.	.	.	c	11.38	1.621950	0.28889	.	.	ENSG00000160948	ENST00000529182;ENST00000377348	.	.	.	2.24	-4.02	0.04034	.	.	.	.	.	T	0.18299	0.0439	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21143	-1.0254	7	0.39692	T	0.17	.	1.335	0.02143	0.2005:0.2455:0.3936:0.1605	.	197	Q9UK41-2	.	K	197	.	ENSP00000366565:E197K	E	-	1	0	VPS28	145620191	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.366000	0.07563	-0.798000	0.04444	0.609000	0.83330	GAG	VPS28	-	pirsf_VPS28	ENSG00000160948		0.706	VPS28-003	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS28	HGNC	protein_coding	OTTHUMT00000382694.1	-	0.00	61	0	C			145649383	-1	tier1	-	no_errors	ENST00000377348	ensembl	human	known	74_37	missense	100.00	0	2	SNP	0.000	T
WHAMM	123720	genome.wustl.edu	37	15	83499796	83499796	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr15:83499796G>A	ENST00000286760.4	+	9	2186	c.2087G>A	c.(2086-2088)cGa>cAa	p.R696Q		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	696	Mediates actin nucleation. {ECO:0000269|PubMed:18614018}.				actin filament organization (GO:0007015)|actin filament reorganization (GO:0090527)|ER to Golgi vesicle-mediated transport (GO:0006888)|focal adhesion assembly (GO:0048041)|lamellipodium assembly (GO:0030032)|membrane tubulation (GO:0097320)|positive regulation of actin nucleation (GO:0051127)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|Golgi membrane (GO:0000139)	Arp2/3 complex binding (GO:0071933)|GTP-Rho binding (GO:0017049)|microtubule binding (GO:0008017)			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						CCTGCTGAGCGACCACGTGAC	0.502																																																	0													110.0	116.0	114.0					15																	83499796		2166	4281	6447	SO:0001583	missense	0			AK126887	CCDS45333.1	15q25.2	2009-02-18	2009-02-18	2009-02-18	ENSG00000156232	ENSG00000156232			30493	protein-coding gene	gene with protein product		612393	"""WAS protein homology region 2 domain containing 1"""	WHDC1		11853319, 18226259, 18614018, 18812086	Standard	XM_005272422		Approved	KIAA1971	uc002bje.3	Q8TF30		ENST00000286760.4:c.2087G>A	15.37:g.83499796G>A	ENSP00000286760:p.Arg696Gln		Q8N1J9	Missense_Mutation	SNP	superfamily_tRNA-bd_arm,pfscan_WH2_dom	p.R696Q	ENST00000286760.4	37	c.2087	CCDS45333.1	15	.	.	.	.	.	.	.	.	.	.	G	15.78	2.933947	0.52866	.	.	ENSG00000156232	ENST00000286760;ENST00000234505	T	0.08546	3.08	4.58	2.63	0.31362	.	1.934720	0.03032	N	0.152194	T	0.07234	0.0183	N	0.22421	0.69	0.09310	N	1	D	0.63046	0.992	B	0.42916	0.402	T	0.30090	-0.9990	10	0.23302	T	0.38	.	5.9043	0.18984	0.1053:0.1946:0.7001:0.0	.	696	Q8TF30	WHAMM_HUMAN	Q	696	ENSP00000286760:R696Q	ENSP00000234505:R696Q	R	+	2	0	WHAMM	81296850	0.000000	0.05858	0.000000	0.03702	0.254000	0.26022	0.598000	0.24074	0.503000	0.28060	0.205000	0.17691	CGA	WHAMM	-	NULL	ENSG00000156232		0.502	WHAMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WHAMM	HGNC	protein_coding	OTTHUMT00000418463.1	-	0.00	34	0	G			83499796	+1	tier1	-	no_errors	ENST00000286760	ensembl	human	known	74_37	missense	33.33	16	8	SNP	0.001	A
XYLB	9942	genome.wustl.edu	37	3	38437043	38437043	+	Nonsense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr3:38437043G>T	ENST00000207870.3	+	16	1429	c.1339G>T	c.(1339-1341)Gaa>Taa	p.E447*	XYLB_ENST00000472721.1_3'UTR|XYLB_ENST00000542835.1_Nonsense_Mutation_p.E310*	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	447					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		TCACAATAGAGAAATCTTACA	0.458																																																	0													113.0	106.0	108.0					3																	38437043		2203	4300	6503	SO:0001587	stop_gained	0			AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"""xylulokinase (H. influenzae) homolog"""			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.1339G>T	3.37:g.38437043G>T	ENSP00000207870:p.Glu447*		B2RAW4|B4DDT2|B9EH64	Nonsense_Mutation	SNP	pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N	p.E447*	ENST00000207870.3	37	c.1339	CCDS2678.1	3	.	.	.	.	.	.	.	.	.	.	G	38	6.738708	0.97801	.	.	ENSG00000093217	ENST00000207870;ENST00000542835	.	.	.	4.86	4.86	0.63082	.	0.187921	0.43747	D	0.000531	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	13.356	0.60627	0.0:0.0:1.0:0.0	.	.	.	.	X	447;310	.	ENSP00000207870:E447X	E	+	1	0	XYLB	38412047	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	3.596000	0.54024	2.528000	0.85240	0.561000	0.74099	GAA	XYLB	-	pfam_Carb_kinase_FGGY_C	ENSG00000093217		0.458	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLB	HGNC	protein_coding	OTTHUMT00000254062.2	-	0.00	61	0	G	NM_005108		38437043	+1	tier1	-	no_errors	ENST00000207870	ensembl	human	known	74_37	nonsense	8.00	46	4	SNP	1.000	T
ZAN	7455	genome.wustl.edu	37	7	100355875	100355875	+	RNA	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr7:100355875G>T	ENST00000348028.3	+	0	3525				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCCGCTGCTGGCCCGGCAGTC	0.582																																																	0													35.0	39.0	38.0					7																	100355875		2074	4213	6287			0			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100355875G>T			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.W1120C	ENST00000348028.3	37	c.3360		7	.	.	.	.	.	.	.	.	.	.	G	11.62	1.694109	0.30052	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.04809	3.55;3.55;3.55	4.21	-0.177	0.13307	.	2.318670	0.01779	N	0.031677	T	0.10035	0.0246	L	0.44542	1.39	0.09310	N	0.999999	D;D	0.56746	0.972;0.977	P;P	0.54924	0.652;0.764	T	0.15065	-1.0450	10	0.54805	T	0.06	.	3.6591	0.08232	0.3057:0.0:0.5249:0.1694	.	1120;1120	F5H0T8;Q9Y493	.;ZAN_HUMAN	C	1120	ENSP00000445943:W1120C;ENSP00000445091:W1120C;ENSP00000444427:W1120C	ENSP00000423579:W1120C	W	+	3	0	ZAN	100193811	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.181000	0.16880	-0.028000	0.13850	0.655000	0.94253	TGG	ZAN	-	smart_VWC_out	ENSG00000146839		0.582	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1		0.00	107	0	G	NM_003386		100355875	+1			no_errors	ENST00000546292	ensembl	human	known	74_37	missense	5.33	70	4	SNP	0.000	T
ZBTB24	9841	genome.wustl.edu	37	6	109796645	109796645	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr6:109796645G>T	ENST00000230122.3	-	5	1412	c.1245C>A	c.(1243-1245)ttC>ttA	p.F415L		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	415					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		ACACATCCATGAATTTGCGAT	0.463																																																	0													220.0	180.0	194.0					6																	109796645		2203	4300	6503	SO:0001583	missense	0			AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.1245C>A	6.37:g.109796645G>T	ENSP00000230122:p.Phe415Leu		Q17RC6|Q5TED5|Q8N455	Missense_Mutation	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.F415L	ENST00000230122.3	37	c.1245	CCDS34509.1	6	.	.	.	.	.	.	.	.	.	.	G	17.60	3.430691	0.62844	.	.	ENSG00000112365	ENST00000230122	T	0.41065	1.01	6.17	4.39	0.52855	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.49218	0.1544	M	0.71036	2.16	0.40125	D	0.976641	D	0.76494	0.999	D	0.77004	0.989	T	0.55829	-0.8079	10	0.72032	D	0.01	-23.0808	8.7616	0.34678	0.2788:0.0:0.7211:0.0	.	415	O43167	ZBT24_HUMAN	L	415	ENSP00000230122:F415L	ENSP00000230122:F415L	F	-	3	2	ZBTB24	109903338	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.859000	0.48364	0.921000	0.36994	0.655000	0.94253	TTC	ZBTB24	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000112365		0.463	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB24	HGNC	protein_coding	OTTHUMT00000041758.1		0.00	63	0	G	NM_014797		109796645	-1			no_errors	ENST00000230122	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T
ZC3H18	124245	genome.wustl.edu	37	16	88643781	88643781	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr16:88643781G>A	ENST00000301011.5	+	2	450	c.250G>A	c.(250-252)Gag>Aag	p.E84K	ZC3H18_ENST00000452588.2_Missense_Mutation_p.E84K	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	84						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCAGGACTCAGAGGTGAATGA	0.632																																					Ovarian(121;375 2276 20373 38669)												0													35.0	38.0	37.0					16																	88643781		2197	4300	6497	SO:0001583	missense	0			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.250G>A	16.37:g.88643781G>A	ENSP00000301011:p.Glu84Lys		Q96DG4|Q96MP7	Missense_Mutation	SNP	smart_Znf_CCCH	p.E84K	ENST00000301011.5	37	c.250	CCDS10967.1	16	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952082	0.53293	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588;ENST00000545404	T;T	0.34859	1.34;1.45	5.35	5.35	0.76521	.	0.291489	0.37483	N	0.002062	T	0.23289	0.0563	N	0.08118	0	0.49299	D	0.999772	P;P;P	0.42692	0.787;0.592;0.787	B;B;B	0.41510	0.359;0.254;0.359	T	0.06092	-1.0846	10	0.13470	T	0.59	-26.5341	19.0604	0.93090	0.0:0.0:1.0:0.0	.	84;84;84	E7ERS3;B4DTK7;Q86VM9	.;.;ZCH18_HUMAN	K	84	ENSP00000301011:E84K;ENSP00000416951:E84K	ENSP00000289509:E84K	E	+	1	0	ZC3H18	87171282	1.000000	0.71417	0.608000	0.28969	0.007000	0.05969	6.778000	0.75043	2.497000	0.84241	0.561000	0.74099	GAG	ZC3H18	-	NULL	ENSG00000158545		0.632	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZC3H18	HGNC	protein_coding	OTTHUMT00000269168.1	-	0.00	65	0	G	NM_144604		88643781	+1	tier1	-	no_errors	ENST00000301011	ensembl	human	known	74_37	missense	43.33	17	13	SNP	1.000	A
ZDHHC23	254887	genome.wustl.edu	37	3	113677442	113677442	+	Intron	SNP	C	C	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr3:113677442C>T	ENST00000330212.3	+	5	1515				ZDHHC23_ENST00000498275.1_Intron|ZDHHC23_ENST00000488129.1_3'UTR	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23						protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						CCTGGGCACACGTGCATTCCA	0.592																																																	0																																										SO:0001627	intron_variant	0			AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307		"""Zinc fingers, DHHC-type"""	28654	protein-coding gene	gene with protein product						12477932	Standard	NM_173570		Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.1216+57C>T	3.37:g.113677442C>T			D3DN76	RNA	SNP	-	NULL	ENST00000330212.3	37	NULL	CCDS33827.1	3																																																																																			ZDHHC23	-	-	ENSG00000184307		0.592	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC23	HGNC	protein_coding	OTTHUMT00000354702.1	-	0.00	47	0	C	NM_173570		113677442	+1	tier1	-	no_errors	ENST00000488129	ensembl	human	putative	74_37	rna	72.22	5	13	SNP	0.000	T
ZNF24	7572	genome.wustl.edu	37	18	32917382	32917382	+	Nonsense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr18:32917382G>T	ENST00000261332.6	-	4	1100	c.921C>A	c.(919-921)taC>taA	p.Y307*	ZNF24_ENST00000589881.1_3'UTR|ZNF24_ENST00000399061.3_Nonsense_Mutation_p.Y307*	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	307					myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						CAAGACATTTGTAAGGTTTTT	0.448																																					Colon(42;769 913 8916 19469 46270)												0													110.0	111.0	111.0					18																	32917382		2203	4300	6503	SO:0001587	stop_gained	0			AF016052	CCDS11912.1	18q12	2013-01-09	2006-05-10		ENSG00000172466	ENSG00000172466		"""-"", ""Zinc fingers, C2H2-type"""	13032	protein-coding gene	gene with protein product		194534	"""zinc finger protein 24 (KOX 17)"""	ZNF191			Standard	NM_006965		Approved	ZSCAN3, Zfp191, KOX17	uc002kys.2	P17028	OTTHUMG00000132565	ENST00000261332.6:c.921C>A	18.37:g.32917382G>T	ENSP00000261332:p.Tyr307*		O14754|Q53YE4|Q6ICR5|Q8IZN4	Nonsense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.Y307*	ENST00000261332.6	37	c.921	CCDS11912.1	18	.	.	.	.	.	.	.	.	.	.	G	23.3	4.394743	0.83011	.	.	ENSG00000172466	ENST00000261332;ENST00000399061	.	.	.	5.14	3.08	0.35506	.	0.000000	0.51477	D	0.000096	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7147	0.40268	0.1545:0.0:0.8455:0.0	.	.	.	.	X	307	.	ENSP00000261332:Y307X	Y	-	3	2	ZNF24	31171380	0.004000	0.15560	1.000000	0.80357	0.999000	0.98932	-0.008000	0.12788	0.677000	0.31305	0.655000	0.94253	TAC	ZNF24	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000172466		0.448	ZNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF24	HGNC	protein_coding	OTTHUMT00000255769.1	-	0.00	66	0	G	NM_006965		32917382	-1	tier1	-	no_errors	ENST00000261332	ensembl	human	known	74_37	nonsense	6.67	56	4	SNP	1.000	T
ZNF275	10838	genome.wustl.edu	37	X	152612275	152612275	+	Splice_Site	SNP	A	A	C			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chrX:152612275A>C	ENST00000421401.3	+	4	310		c.e4-1		ZNF275_ENST00000440091.1_Splice_Site|ZNF275_ENST00000370249.2_Splice_Site|ZNF275_ENST00000370251.3_Splice_Site			Q9NSD4	ZN275_HUMAN	zinc finger protein 275						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTATCGTTTCAGAAAGCACCT	0.547																																																	0													31.0	32.0	32.0					X																	152612275		2030	4161	6191	SO:0001630	splice_region_variant	0			BC041602		Xq28	2013-01-08			ENSG00000063587	ENSG00000063587		"""Zinc fingers, C2H2-type"", ""-"""	13069	protein-coding gene	gene with protein product							Standard	NM_001080485		Approved		uc004fhg.2	Q9NSD4	OTTHUMG00000067450	ENST00000421401.3:c.134-1A>C	X.37:g.152612275A>C			A6NE92	Splice_Site	SNP	-	e4-2	ENST00000421401.3	37	c.224-2		X	.	.	.	.	.	.	.	.	.	.	A	12.39	1.924278	0.34002	.	.	ENSG00000063587	ENST00000370251;ENST00000421401;ENST00000440091	.	.	.	4.39	3.23	0.37069	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.8547	0.08970	0.6451:0.2408:0.1141:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF275	152265469	.	.	0.488000	0.27440	0.215000	0.24574	.	.	0.801000	0.34066	0.486000	0.48141	.	ZNF275	-	-	ENSG00000063587		0.547	ZNF275-201	KNOWN	basic	protein_coding	ZNF275	HGNC	protein_coding		-	0.00	76	0	A	NM_001080485	Intron	152612275	+1	tier1	-	no_errors	ENST00000440091	ensembl	human	known	74_37	splice_site	12.28	50	7	SNP	0.922	C
ZNF277	11179	genome.wustl.edu	37	7	111970249	111970249	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr7:111970249G>T	ENST00000361822.3	+	7	908	c.779G>T	c.(778-780)aGa>aTa	p.R260I	ZNF277_ENST00000450657.1_Missense_Mutation_p.R260I|AC004112.4_ENST00000411413.1_RNA|AC004112.4_ENST00000431064.1_RNA	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	260					cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						GAATATGACAGATTTTATGTC	0.318																																																	0													90.0	90.0	90.0					7																	111970249		2202	4299	6501	SO:0001583	missense	0			AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"""zinc finger protein (C2H2 type) 277"", ""zinc finger protein 277 pseudogene"""	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.779G>T	7.37:g.111970249G>T	ENSP00000354501:p.Arg260Ile		Q75MZ2|Q75MZ3|Q8WY14	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R260I	ENST00000361822.3	37	c.779	CCDS5755.2	7	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050794	0.75960	.	.	ENSG00000198839	ENST00000361822;ENST00000425229;ENST00000450657	T;T;T	0.44083	0.93;0.93;0.93	6.17	3.43	0.39272	.	0.117394	0.64402	D	0.000015	T	0.56307	0.1976	M	0.73962	2.25	0.80722	D	1	P;D	0.54601	0.917;0.967	P;P	0.57371	0.745;0.819	T	0.59139	-0.7510	10	0.56958	D	0.05	-5.5732	10.8838	0.46955	0.2536:0.0:0.7464:0.0	.	260;260	Q9NRM2;G5E9M4	ZN277_HUMAN;.	I	260;172;260	ENSP00000354501:R260I;ENSP00000390359:R172I;ENSP00000402292:R260I	ENSP00000354501:R260I	R	+	2	0	ZNF277	111757485	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.200000	0.42724	0.951000	0.37770	-0.136000	0.14681	AGA	ZNF277	-	NULL	ENSG00000198839		0.318	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF277	HGNC	protein_coding	OTTHUMT00000316843.2	-	0.00	28	0	G	NM_021994		111970249	+1	tier1	-	no_errors	ENST00000361822	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T
PRAP1	118471	genome.wustl.edu	37	10	135165521	135165521	+	Missense_Mutation	SNP	G	G	T	rs112404351	byFrequency	TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr10:135165521G>T	ENST00000433452.2	+	4	411	c.139G>T	c.(139-141)Gcc>Tcc	p.A47S	PRAP1_ENST00000463201.1_3'UTR|PRAP1_ENST00000423766.1_Missense_Mutation_p.A48S|ZNF511_ENST00000368554.4_Missense_Mutation_p.A206S|RP11-122K13.7_ENST00000452591.1_RNA|PRAP1_ENST00000458230.1_Missense_Mutation_p.A47S			Q96NZ9	PRAP1_HUMAN	proline-rich acidic protein 1	47						extracellular region (GO:0005576)				large_intestine(1)|lung(2)	3		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.08e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.88e-06)|Epithelial(32;9.48e-06)		GGCCTGGGGCGCCCGTGTGGT	0.657																																																	0													53.0	59.0	57.0					10																	135165521		2203	4300	6503	SO:0001583	missense	0			AF421885	CCDS7679.1	10q26.3	2012-10-01			ENSG00000165828	ENSG00000165828			23304	protein-coding gene	gene with protein product		609776				14583459, 20674898	Standard	NM_001145201		Approved	UPA		Q96NZ9	OTTHUMG00000019312	ENST00000433452.2:c.139G>T	10.37:g.135165521G>T	ENSP00000416126:p.Ala47Ser		B7ZL57|B7ZL58|E9KL31|Q5VWY4|Q7Z4X5|Q8IWR3|Q8NCS2	Missense_Mutation	SNP	smart_Znf_C2H2-like	p.A206S	ENST00000433452.2	37	c.616	CCDS7679.1	10	.	.	.	.	.	.	.	.	.	.	g	10.78	1.446436	0.25987	.	.	ENSG00000198546;ENSG00000165828;ENSG00000165828;ENSG00000165828;ENSG00000165828	ENST00000368554;ENST00000433452;ENST00000423766;ENST00000458230;ENST00000415747	T;T;T;T	0.30182	1.57;1.55;1.54;1.55	3.07	-0.592	0.11671	.	1.236180	0.06264	N	0.694520	T	0.12902	0.0313	N	0.14661	0.345	0.09310	N	1	P;P;P	0.42456	0.78;0.78;0.78	B;B;B	0.33295	0.161;0.161;0.161	T	0.12811	-1.0533	10	0.32370	T	0.25	-1.4189	2.1538	0.03807	0.3971:0.0:0.3607:0.2422	.	47;48;47	A6XND8;Q96NZ9-3;Q96NZ9	.;.;PRAP1_HUMAN	S	206;47;48;47;47	ENSP00000357542:A206S;ENSP00000416126:A47S;ENSP00000409495:A48S;ENSP00000402700:A47S	ENSP00000403014:A47S	A	+	1	0	ZNF511;PRAP1	135015511	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.145000	0.10265	-0.102000	0.12197	-0.144000	0.13903	GCC	ZNF511	-	NULL	ENSG00000198546		0.657	PRAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF511	HGNC	protein_coding	OTTHUMT00000051132.1		0.00	188	0	G	NM_145202		135165521	+1			no_errors	ENST00000368554	ensembl	human	known	74_37	missense	5.08	56	3	SNP	0.000	T
ZNF574	64763	genome.wustl.edu	37	19	42583430	42583430	+	Silent	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:42583430G>A	ENST00000600245.1	+	2	1327	c.672G>A	c.(670-672)caG>caA	p.Q224Q	CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000359044.4_Silent_p.Q224Q|ZNF574_ENST00000222339.7_Silent_p.Q314Q			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	224					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				AGCTCTTCCAGCTGCCGGCGG	0.622																																																	0													66.0	69.0	68.0					19																	42583430		2203	4300	6503	SO:0001819	synonymous_variant	0			AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.672G>A	19.37:g.42583430G>A			Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q314	ENST00000600245.1	37	c.942	CCDS12596.1	19																																																																																			ZNF574	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000105732		0.622	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ZNF574	HGNC	protein_coding	OTTHUMT00000463458.1	-	0.00	115	0	G	NM_022752		42583430	+1	tier1	-	no_errors	ENST00000222339	ensembl	human	known	74_37	silent	6.25	60	4	SNP	1.000	A
ZNF587B	100293516	genome.wustl.edu	37	19	58353505	58353505	+	Intron	SNP	A	A	G			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:58353505A>G	ENST00000442832.4	+	3	1356				CTD-2583A14.10_ENST00000598031.1_Intron|ZNF587B_ENST00000316462.4_Intron|ZNF587B_ENST00000594901.1_Missense_Mutation_p.H488R	NM_001204818.1	NP_001191747.1	E7ETH6	Z587B_HUMAN	zinc finger protein 587B						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										CAGAGAATTCACAGTGGAGAG	0.443																																																	0																																										SO:0001627	intron_variant	0			AK299091	CCDS56109.1	19q13.43	2013-01-08				ENSG00000269343		"""Zinc fingers, C2H2-type"", ""-"""	37142	protein-coding gene	gene with protein product							Standard	NM_001204818		Approved		uc021vcp.1	E7ETH6		ENST00000442832.4:c.1122+341A>G	19.37:g.58353505A>G			B4DR41	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H488R	ENST00000442832.4	37	c.1463	CCDS56109.1	19																																																																																			ZNF587B	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000269343		0.443	ZNF587B-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	ZNF587B	HGNC	protein_coding	OTTHUMT00000466834.2	-	0.00	101	0	A	NM_001204818		58353505	+1	tier1	-	no_errors	ENST00000594901	ensembl	human	novel	74_37	missense	16.18	57	11	SNP	0.980	G
ZNF646	9726	genome.wustl.edu	37	16	31090229	31090229	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr16:31090229G>A	ENST00000394979.2	+	1	3007	c.2584G>A	c.(2584-2586)Gcc>Acc	p.A862T	ZNF646_ENST00000300850.5_Missense_Mutation_p.A862T			O15015	ZN646_HUMAN	zinc finger protein 646	862					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(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CTCTCTGCCTGCCCTCCGCAG	0.632																																																	0													62.0	67.0	65.0					16																	31090229		2197	4300	6497	SO:0001583	missense	0			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.2584G>A	16.37:g.31090229G>A	ENSP00000378429:p.Ala862Thr		Q8IVD8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A862T	ENST00000394979.2	37	c.2584		16	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691866	0.88735	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.77229	-1.08;-1.08	5.1	5.1	0.69264	.	.	.	.	.	T	0.74023	0.3662	N	0.12887	0.27	0.41004	D	0.984952	D	0.71674	0.998	D	0.65233	0.933	T	0.71955	-0.4436	9	0.21540	T	0.41	-13.5213	12.4066	0.55443	0.0:0.0:0.8316:0.1683	.	862	O15015-2	.	T	862	ENSP00000300850:A862T;ENSP00000378429:A862T	ENSP00000300850:A862T	A	+	1	0	ZNF646	30997730	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.890000	0.63178	2.380000	0.81148	0.563000	0.77884	GCC	ZNF646	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167395		0.632	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	-	0.00	50	0	G	NM_014699		31090229	+1	tier1	-	no_errors	ENST00000300850	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	A
ZNF687	57592	genome.wustl.edu	37	1	151261077	151261077	+	Missense_Mutation	SNP	G	G	A	rs375351311		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr1:151261077G>A	ENST00000368879.2	+	3	2287	c.2189G>A	c.(2188-2190)cGa>cAa	p.R730Q		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	730					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CATAAGAATCGACCCCCCCAT	0.582																																																	0								G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	116.0	97.0	103.0		2189	4.3	0.9	1		103	0,8600		0,0,4300	no	missense	ZNF687	NM_020832.1	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	730/1238	151261077	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.2189G>A	1.37:g.151261077G>A	ENSP00000357874:p.Arg730Gln		D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R730Q	ENST00000368879.2	37	c.2189		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.0|23.0	4.365485|4.365485	0.82463|0.82463	2.27E-4|2.27E-4	0.0|0.0	ENSG00000143373|ENSG00000143373	ENST00000426871|ENST00000336715;ENST00000324048;ENST00000368879	.|T;T;T	.|0.29142	.|1.58;1.58;1.58	5.25|5.25	4.34|4.34	0.51931|0.51931	.|Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.000000	.|0.30365	.|N	.|0.009783	T|T	0.22898|0.22898	0.0553|0.0553	N|N	0.22421|0.22421	0.69|0.69	0.40603|0.40603	D|D	0.981602|0.981602	.|D;D	.|0.76494	.|0.999;0.996	.|P;P	.|0.62014	.|0.897;0.727	T|T	0.07751|0.07751	-1.0756|-1.0756	5|10	.|0.62326	.|D	.|0.03	.|.	8.7431|8.7431	0.34569|0.34569	0.0811:0.1513:0.7676:0.0|0.0811:0.1513:0.7676:0.0	.|.	.|730;730	.|Q8N1G0-2;Q8N1G0	.|.;ZN687_HUMAN	N|Q	333|730	.|ENSP00000336620:R730Q;ENSP00000319829:R730Q;ENSP00000357874:R730Q	.|ENSP00000319829:R730Q	D|R	+|+	1|2	0|0	ZNF687|ZNF687	149527701|149527701	0.003000|0.003000	0.15002|0.15002	0.934000|0.934000	0.37439|0.37439	0.991000|0.991000	0.79684|0.79684	1.406000|1.406000	0.34646|0.34646	1.467000|1.467000	0.48044|0.48044	0.561000|0.561000	0.74099|0.74099	GAC|CGA	ZNF687	-	pfscan_Znf_C2H2	ENSG00000143373		0.582	ZNF687-201	KNOWN	basic	protein_coding	ZNF687	HGNC	protein_coding		-	0.00	103	0	G	NM_020832		151261077	+1	tier1	-	no_errors	ENST00000324048	ensembl	human	known	74_37	missense	33.33	36	18	SNP	0.842	A
ZNF699	374879	genome.wustl.edu	37	19	9406193	9406193	+	Nonsense_Mutation	SNP	G	G	C			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:9406193G>C	ENST00000591998.1	-	6	2115	c.1887C>G	c.(1885-1887)taC>taG	p.Y629*	ZNF699_ENST00000308650.3_Nonsense_Mutation_p.Y629*|CTC-325H20.4_ENST00000591336.1_RNA			Q32M78	ZN699_HUMAN	zinc finger protein 699	629					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y629Y(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCCTTCGAAAGTAGGCAGGAC	0.428																																																	1	Substitution - coding silent(1)	lung(1)											102.0	108.0	106.0					19																	9406193		2198	4300	6498	SO:0001587	stop_gained	0			BC109268	CCDS42495.1	19p13.2	2013-01-08				ENSG00000196110		"""Zinc fingers, C2H2-type"", ""-"""	24750	protein-coding gene	gene with protein product	hangover homolog (Drosophila)	609571				16940975	Standard	NM_198535		Approved	FLJ38144, hang	uc002mlc.1	Q32M78		ENST00000591998.1:c.1887C>G	19.37:g.9406193G>C	ENSP00000467723:p.Tyr629*		Q8N9A1	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y629*	ENST00000591998.1	37	c.1887	CCDS42495.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.828121	0.96996	.	.	ENSG00000196110	ENST00000308650	.	.	.	3.59	-0.917	0.10485	.	0.000000	0.32175	N	0.006463	.	.	.	.	.	.	0.29164	N	0.877542	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	7.5119	0.27579	0.4121:0.0:0.5879:0.0	.	.	.	.	X	629	.	ENSP00000311596:Y629X	Y	-	3	2	ZNF699	9267193	0.000000	0.05858	0.000000	0.03702	0.985000	0.73830	-0.242000	0.08928	-0.062000	0.13088	-0.266000	0.10368	TAC	ZNF699	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196110		0.428	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF699	HGNC	protein_coding	OTTHUMT00000449010.1	-	0.00	55	0	G	NM_198535		9406193	-1	tier1	-	no_errors	ENST00000308650	ensembl	human	known	74_37	nonsense	44.23	29	23	SNP	0.000	C
ZNF804B	219578	genome.wustl.edu	37	7	88847482	88847482	+	Missense_Mutation	SNP	A	A	C	rs534524551		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr7:88847482A>C	ENST00000333190.4	+	2	731	c.122A>C	c.(121-123)aAg>aCg	p.K41T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	41							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTTGCAGAAAAGAAGTCCACA	0.343										HNSCC(36;0.09)																																							0													69.0	68.0	68.0					7																	88847482		2203	4300	6503	SO:0001583	missense	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.122A>C	7.37:g.88847482A>C	ENSP00000329638:p.Lys41Thr		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.K41T	ENST00000333190.4	37	c.122	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	A	20.2	3.941468	0.73557	.	.	ENSG00000182348	ENST00000333190	T	0.10763	2.84	5.05	5.05	0.67936	.	0.000000	0.52532	D	0.000066	T	0.17450	0.0419	N	0.24115	0.695	0.26572	N	0.973544	D	0.76494	0.999	D	0.70227	0.968	T	0.03278	-1.1053	10	0.72032	D	0.01	-12.5161	9.4583	0.38769	0.9212:0.0:0.0788:0.0	.	41	A4D1E1	Z804B_HUMAN	T	41	ENSP00000329638:K41T	ENSP00000329638:K41T	K	+	2	0	ZNF804B	88685418	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.185000	0.72013	2.121000	0.65114	0.397000	0.26171	AAG	ZNF804B	-	NULL	ENSG00000182348		0.343	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	-	0.00	61	0	A	NM_181646		88847482	+1	tier1	-	no_errors	ENST00000333190	ensembl	human	known	74_37	missense	34.12	56	29	SNP	1.000	C
ZNF99	7652	genome.wustl.edu	37	19	22940313	22940313	+	Missense_Mutation	SNP	T	T	G	rs541691706		TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:22940313T>G	ENST00000596209.1	-	4	2488	c.2398A>C	c.(2398-2400)Aat>Cat	p.N800H	ZNF99_ENST00000397104.3_Missense_Mutation_p.N709H|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	800					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(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GTTGAGGAATTGTTAAAAGCT	0.348													t|||	1	0.000199681	0.0008	0.0	5008	,	,		19243	0.0		0.0	False		,,,				2504	0.0																0													32.0	35.0	34.0					19																	22940313		2043	4206	6249	SO:0001583	missense	0			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2398A>C	19.37:g.22940313T>G	ENSP00000472969:p.Asn800His		M0R335	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N709H	ENST00000596209.1	37	c.2125	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	t	0.017	-1.508819	0.00984	.	.	ENSG00000213973	ENST00000397104	T	0.19250	2.16	1.26	-2.52	0.06346	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06371	0.0164	N	0.04297	-0.235	0.09310	N	1	B	0.12630	0.006	B	0.20184	0.028	T	0.35599	-0.9782	9	0.13108	T	0.6	.	0.1001	0.00047	0.2359:0.1894:0.2374:0.3373	.	709	A8MXY4	ZNF99_HUMAN	H	709	ENSP00000380293:N709H	ENSP00000380293:N709H	N	-	1	0	ZNF99	22732153	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-5.769000	0.00099	-1.181000	0.02730	-0.939000	0.02691	AAT	ZNF99	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213973		0.348	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1		0.00	27	0	T	XM_065124		22940313	-1			no_errors	ENST00000397104	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.000	G
ZNF829	374899	genome.wustl.edu	37	19	37382431	37382431	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:37382431G>T	ENST00000391711.3	-	6	1626	c.1262C>A	c.(1261-1263)tCt>tAt	p.S421Y	ZNF829_ENST00000520965.1_Missense_Mutation_p.S502Y|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	421					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATGAGGTCAGAGCGACTACC	0.378																																																	0													63.0	66.0	65.0					19																	37382431		2188	4291	6479	SO:0001583	missense	0			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.1262C>A	19.37:g.37382431G>T	ENSP00000429266:p.Ser421Tyr		Q3KNS7|Q6ZNN0|Q7Z657	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S502Y	ENST00000391711.3	37	c.1505	CCDS42557.1	19	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580062	0.46006	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	T	0.37058	1.22	3.28	3.28	0.37604	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33702	0.0872	L	0.42686	1.345	0.23585	N	0.997351	P	0.37573	0.6	B	0.37267	0.245	T	0.29305	-1.0016	9	0.59425	D	0.04	.	14.4683	0.67499	0.0:0.0:1.0:0.0	.	421	Q3KNS6	ZN829_HUMAN	Y	421	ENSP00000429266:S421Y	ENSP00000429266:S421Y	S	-	2	0	ZNF829	42074271	0.000000	0.05858	0.998000	0.56505	0.986000	0.74619	0.758000	0.26447	2.129000	0.65627	0.557000	0.71058	TCT	ZNF829	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000185869		0.378	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF829	HGNC	protein_coding	OTTHUMT00000109575.3	-	0.00	61	0	G	NM_001037232		37382431	-1	tier1	-	no_errors	ENST00000520965	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.552	T
ZNF587	84914	genome.wustl.edu	37	19	58361380	58361380	+	5'UTR	SNP	C	C	T			TCGA-R6-A6Y2-01B-11D-A33E-09	TCGA-R6-A6Y2-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d9b507c0-00e5-440e-a987-b77be148c1a6	4a6de380-0322-4441-8de9-87e447b213f4	g.chr19:58361380C>T	ENST00000339656.5	+	0	156				ZNF814_ENST00000597652.1_5'UTR|ZNF587_ENST00000423137.1_5'UTR|CTD-2583A14.10_ENST00000598031.1_Intron|ZNF587B_ENST00000316462.4_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		ACCACTGCTCCCGGGCCGTGC	0.657																																					Pancreas(59;641 1233 1885 20055 50741)												0													31.0	33.0	32.0					19																	58361380		2203	4296	6499	SO:0001623	5_prime_UTR_variant	0			AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"""Zinc fingers, C2H2-type"", ""-"""	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.-27C>T	19.37:g.58361380C>T			A0AV72|G3V0H5|Q6ZMK8	RNA	SNP	-	NULL	ENST00000339656.5	37	NULL	CCDS12964.1	19																																																																																			ZNF814	-	-	ENSG00000204514		0.657	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF814	HGNC	protein_coding	OTTHUMT00000337594.2	-	0.00	173	0	C	NM_032828		58361380	-1	tier1	-	no_errors	ENST00000597652	ensembl	human	known	74_37	rna	17.86	23	5	SNP	0.001	T
