#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
ABCA5	23461	genome.wustl.edu	37	17	67257342	67257342	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr17:67257342G>T	ENST00000392676.3	-	26	3552	c.3488C>A	c.(3487-3489)gCa>gAa	p.A1163E	ABCA5_ENST00000588877.1_Missense_Mutation_p.A1163E|ABCA5_ENST00000392677.2_Missense_Mutation_p.A1164E			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1163					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	AAGAATAGTTGCAATTGTGTA	0.299																																																	0													48.0	48.0	48.0					17																	67257342		2199	4293	6492	SO:0001583	missense	0			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.3488C>A	17.37:g.67257342G>T	ENSP00000376443:p.Ala1163Glu		Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.A1164E	ENST00000392676.3	37	c.3491	CCDS11685.1	17	.	.	.	.	.	.	.	.	.	.	G	9.113	1.007005	0.19199	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.87029	-2.2;-2.2	5.33	5.33	0.75918	.	0.186208	0.37761	N	0.001942	D	0.82356	0.5019	L	0.27053	0.805	0.09310	N	0.999999	B	0.19445	0.036	B	0.30029	0.11	T	0.66081	-0.6012	9	.	.	.	.	18.9961	0.92813	0.0:0.0:1.0:0.0	.	1163	Q8WWZ7	ABCA5_HUMAN	E	1164;1163	ENSP00000376444:A1164E;ENSP00000376443:A1163E	.	A	-	2	0	ABCA5	64768937	0.397000	0.25270	0.038000	0.18304	0.460000	0.32559	3.826000	0.55738	2.649000	0.89929	0.650000	0.86243	GCA	ABCA5	-	NULL	ENSG00000154265		0.299	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCA5	HGNC	protein_coding	OTTHUMT00000450654.1	-	0.00	28	0	G	NM_018672		67257342	-1	tier1	-	no_errors	ENST00000392677	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.051	T
ACACB	32	genome.wustl.edu	37	12	109604754	109604754	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr12:109604754G>A	ENST00000338432.7	+	3	861	c.742G>A	c.(742-744)Gct>Act	p.A248T	ACACB_ENST00000377854.5_Missense_Mutation_p.A248T|ACACB_ENST00000377848.3_Missense_Mutation_p.A248T			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	248					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GGCTTCTCCCGCTGAGTTTGT	0.607																																																	0													83.0	76.0	79.0					12																	109604754		2203	4300	6503	SO:0001583	missense	0			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.742G>A	12.37:g.109604754G>A	ENSP00000341044:p.Ala248Thr		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.A248T	ENST00000338432.7	37	c.742	CCDS31898.1	12	.	.	.	.	.	.	.	.	.	.	G	15.70	2.909921	0.52439	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	T;T;T	0.16897	2.31;2.31;2.31	5.41	5.41	0.78517	PreATP-grasp-like fold (1);	0.156492	0.56097	D	0.000026	T	0.13756	0.0333	L	0.37697	1.125	0.80722	D	1	P	0.39282	0.666	B	0.35182	0.197	T	0.08513	-1.0718	10	0.22109	T	0.4	.	14.4319	0.67257	0.0:0.1475:0.8525:0.0	.	248	O00763	ACACB_HUMAN	T	248	ENSP00000341044:A248T;ENSP00000367079:A248T;ENSP00000367085:A248T	ENSP00000341044:A248T	A	+	1	0	ACACB	108089137	1.000000	0.71417	0.671000	0.29857	0.634000	0.38068	7.786000	0.85741	2.526000	0.85167	0.491000	0.48974	GCT	ACACB	-	superfamily_PreATP-grasp_dom	ENSG00000076555		0.607	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1	-	0.00	37	0	G	NM_001093		109604754	+1	tier1	-	no_errors	ENST00000338432	ensembl	human	known	74_37	missense	23.21	43	13	SNP	0.992	A
ACE	1636	genome.wustl.edu	37	17	61559062	61559062	+	Missense_Mutation	SNP	G	G	A	rs546455400		TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr17:61559062G>A	ENST00000290866.4	+	7	1105	c.1081G>A	c.(1081-1083)Gcc>Acc	p.A361T	ACE_ENST00000584529.1_3'UTR|ACE_ENST00000538928.1_Missense_Mutation_p.A361T|ACE_ENST00000428043.1_Missense_Mutation_p.A361T	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	361	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GGTGTGCCACGCCTCGGCTTG	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		17079	0.001		0.0	False		,,,				2504	0.0																0													53.0	60.0	58.0					17																	61559062		2203	4300	6503	SO:0001583	missense	0			J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.1081G>A	17.37:g.61559062G>A	ENSP00000290866:p.Ala361Thr		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	pfam_Peptidase_M2,prints_Peptidase_M2	p.A361T	ENST00000290866.4	37	c.1081	CCDS11637.1	17	.	.	.	.	.	.	.	.	.	.	G	28.7	4.938912	0.92526	.	.	ENSG00000159640	ENST00000538928;ENST00000290866;ENST00000428043	T;T;T	0.38077	1.16;1.16;1.16	4.19	4.19	0.49359	.	0.114855	0.64402	D	0.000017	T	0.68742	0.3034	M	0.93106	3.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.992	T	0.78570	-0.2153	10	0.62326	D	0.03	-13.035	16.7198	0.85407	0.0:0.0:1.0:0.0	.	361;361;361	F5H1K1;P12821-2;P12821	.;.;ACE_HUMAN	T	361	ENSP00000439591:A361T;ENSP00000290866:A361T;ENSP00000397593:A361T	ENSP00000290866:A361T	A	+	1	0	ACE	58912794	1.000000	0.71417	0.879000	0.34478	0.731000	0.41821	9.657000	0.98554	2.153000	0.67306	0.561000	0.74099	GCC	ACE	-	pfam_Peptidase_M2	ENSG00000159640		0.632	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACE	HGNC	protein_coding	OTTHUMT00000337675.2	-	0.00	87	0	G			61559062	+1	tier1	-	no_errors	ENST00000290866	ensembl	human	known	74_37	missense	17.81	59	13	SNP	1.000	A
ADH1C	126	genome.wustl.edu	37	4	100266378	100266378	+	RNA	SNP	C	C	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr4:100266378C>T	ENST00000510055.1	-	0	479				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	TTTACAAATTCTGCATTTTCC	0.363																																																	0													103.0	101.0	102.0					4																	100266378		2202	4300	6502			0			M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"""Alcohol dehydrogenases"""	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100266378C>T			Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	Splice_Site	SNP	-	NULL	ENST00000510055.1	37	c.NULL		4																																																																																			ADH1C	-	-	ENSG00000248144		0.363	ADH1C-004	KNOWN	mRNA_end_NF|basic	processed_transcript	ADH1C	HGNC	polymorphic_pseudogene	OTTHUMT00000365189.2	-	0.00	59	0	C	NM_000669		100266378	-1	tier1	-	no_errors	ENST00000505942	ensembl	human	known	74_37	splice_site	13.33	65	10	SNP	0.000	T
AFF3	3899	genome.wustl.edu	37	2	100210027	100210027	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr2:100210027G>T	ENST00000409236.2	-	13	2208	c.2096C>A	c.(2095-2097)tCt>tAt	p.S699Y	AFF3_ENST00000356421.2_Missense_Mutation_p.S724Y|AFF3_ENST00000317233.4_Missense_Mutation_p.S699Y|AFF3_ENST00000409579.1_Missense_Mutation_p.S724Y			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	699					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)	p.S724F(1)		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						GGAGGAGGCAGAGGCAGCCAC	0.617																																																	1	Substitution - Missense(1)	lung(1)											53.0	59.0	57.0					2																	100210027		2202	4297	6499	SO:0001583	missense	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.2096C>A	2.37:g.100210027G>T	ENSP00000387207:p.Ser699Tyr		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.S724Y	ENST00000409236.2	37	c.2171	CCDS42723.1	2	.	.	.	.	.	.	.	.	.	.	G	10.84	1.463704	0.26335	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	4.9	4.9	0.64082	.	2.485370	0.01594	N	0.021720	T	0.73760	0.3628	L	0.34521	1.04	0.09310	N	0.999999	P;P;P	0.51791	0.948;0.642;0.763	P;B;B	0.52386	0.697;0.144;0.354	T	0.68074	-0.5505	10	0.59425	D	0.04	.	16.8503	0.85992	0.0:0.0:1.0:0.0	.	852;699;724	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	Y	699;724;724;699;699;852;724	ENSP00000317421:S699Y;ENSP00000348793:S724Y;ENSP00000386834:S724Y;ENSP00000387207:S699Y	ENSP00000317421:S699Y	S	-	2	0	AFF3	99576459	0.001000	0.12720	0.753000	0.31225	0.177000	0.22998	0.725000	0.25970	2.275000	0.75901	0.561000	0.74099	TCT	AFF3	-	pfam_TF_AF4/FMR2	ENSG00000144218		0.617	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3		0.00	41	0	G	NM_002285		100210027	-1			no_errors	ENST00000356421	ensembl	human	known	74_37	missense	5.66	50	3	SNP	0.981	T
ALDH8A1	64577	genome.wustl.edu	37	6	135265095	135265095	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr6:135265095C>T	ENST00000265605.2	-	2	216	c.148G>A	c.(148-150)Gcg>Acg	p.A50T	ALDH8A1_ENST00000367847.2_Missense_Mutation_p.A50T|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.A50T|RP11-349J5.2_ENST00000416448.2_RNA	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	50					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)	p.A50T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		GCCTTGACCGCGGCTTCGATC	0.582																																																	1	Substitution - Missense(1)	prostate(1)											33.0	36.0	35.0					6																	135265095		2203	4300	6503	SO:0001583	missense	0			AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"""Aldehyde dehydrogenases"""	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.148G>A	6.37:g.135265095C>T	ENSP00000265605:p.Ala50Thr		B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.A50T	ENST00000265605.2	37	c.148	CCDS5171.1	6	.	.	.	.	.	.	.	.	.	.	C	35	5.493115	0.96339	.	.	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847	D;D;T	0.83419	-1.72;-1.72;1.02	6.08	6.08	0.98989	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.91878	0.7429	H	0.94264	3.515	0.80722	D	1	D;D;D	0.56521	0.976;0.97;0.976	P;P;P	0.54924	0.764;0.652;0.764	D	0.93047	0.6462	10	0.87932	D	0	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	50;50;50	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	T	50	ENSP00000265605:A50T;ENSP00000356819:A50T;ENSP00000356821:A50T	ENSP00000265605:A50T	A	-	1	0	ALDH8A1	135306788	1.000000	0.71417	0.225000	0.23894	0.071000	0.16799	7.723000	0.84788	2.894000	0.99253	0.591000	0.81541	GCG	ALDH8A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000118514		0.582	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH8A1	HGNC	protein_coding	OTTHUMT00000042334.2	-	0.00	26	0	C			135265095	-1	tier1	rs146771623	no_errors	ENST00000265605	ensembl	human	known	74_37	missense	33.33	26	13	SNP	1.000	T
ALG10	84920	genome.wustl.edu	37	12	34179462	34179462	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr12:34179462A>T	ENST00000266483.2	+	3	1353	c.1034A>T	c.(1033-1035)aAa>aTa	p.K345I	ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA|AC046130.1_ENST00000401300.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	345					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)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				TATGCTCATAAATACTTGCTA	0.299																																																	0													75.0	84.0	81.0					12																	34179462		2200	4293	6493	SO:0001583	missense	0			AJ312278	CCDS41769.1	12p11.21	2013-03-04	2013-03-04		ENSG00000139133	ENSG00000139133	2.4.1.256		23162	protein-coding gene	gene with protein product	"""derepression of ITR1 expression 2 homolog (S. cerevisiae)"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""	603313	"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)"", ""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)"""				Standard	NM_032834		Approved	FLJ14751, DIE2, ALG10A	uc001rlm.3	Q5BKT4	OTTHUMG00000169285	ENST00000266483.2:c.1034A>T	12.37:g.34179462A>T	ENSP00000266483:p.Lys345Ile		Q6NS98|Q96DU0|Q96SM6	Missense_Mutation	SNP	pfam_Alg10,pirsf_Alg10	p.K345I	ENST00000266483.2	37	c.1034	CCDS41769.1	12	.	.	.	.	.	.	.	.	.	.	A	14.44	2.535550	0.45176	.	.	ENSG00000139133	ENST00000266483	T	0.55930	0.49	3.37	3.37	0.38596	.	0.136475	0.64402	D	0.000005	T	0.52273	0.1724	M	0.72118	2.19	0.80722	D	1	P	0.37612	0.602	B	0.39617	0.305	T	0.58989	-0.7538	10	0.87932	D	0	.	10.0836	0.42404	1.0:0.0:0.0:0.0	.	345	Q5BKT4	AG10A_HUMAN	I	345	ENSP00000266483:K345I	ENSP00000266483:K345I	K	+	2	0	ALG10	34070729	1.000000	0.71417	0.504000	0.27639	0.852000	0.48524	4.803000	0.62546	1.322000	0.45245	0.155000	0.16302	AAA	ALG10	-	pfam_Alg10,pirsf_Alg10	ENSG00000139133		0.299	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG10	HGNC	protein_coding	OTTHUMT00000403309.1	-	0.00	93	0	A	NM_032834		34179462	+1	tier1	-	no_errors	ENST00000266483	ensembl	human	known	74_37	missense	34.21	75	39	SNP	0.989	T
AOX2P	344454	genome.wustl.edu	37	2	201619551	201619551	+	IGR	DEL	A	A	-			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr2:201619551delA								AC007163.3 (19651 upstream) : AOX2P (7479 downstream)																							CTGTGCCGTGAAAAAAAAACT	0.388																																																	0																																										SO:0001628	intergenic_variant	0																															2.37:g.201619551delA				RNA	DEL	-	NULL		37	NULL		2																																																																																			AOX2P	-	-	ENSG00000243478	0	0.388					AOX2P	HGNC				0.00	35	0	A			201619551	+1	tier1		no_errors	ENST00000470911	ensembl	human	known	74_37	rna	6.00	47	3	DEL	0.997	-
AP3B2	8120	genome.wustl.edu	37	15	83349865	83349865	+	Splice_Site	SNP	G	G	A			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr15:83349865G>A	ENST00000261722.3	-	6	794	c.587C>T	c.(586-588)aCg>aTg	p.T196M	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Splice_Site_p.T164M|AP3B2_ENST00000535359.1_Splice_Site_p.T196M	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	196					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)			TACACGCACCGTGGTCTTGTC	0.577																																																	0													36.0	37.0	37.0					15																	83349865		1995	4158	6153	SO:0001630	splice_region_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.588+1C>T	15.37:g.83349865G>A			A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta	p.T196M	ENST00000261722.3	37	c.587	CCDS45331.1	15	.	.	.	.	.	.	.	.	.	.	G	31	5.064394	0.93898	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359;ENST00000541693	T;T;T;T	0.12984	2.63;2.63;2.63;2.63	5.52	5.52	0.82312	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.053547	0.85682	D	0.000000	T	0.49184	0.1542	M	0.90922	3.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.994;0.99	T	0.59690	-0.7407	10	0.72032	D	0.01	-22.5565	19.4371	0.94799	0.0:0.0:1.0:0.0	.	164;196;196	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	M	196;164;196;152	ENSP00000261722:T196M;ENSP00000438721:T164M;ENSP00000440984:T196M;ENSP00000441961:T152M	ENSP00000261722:T196M	T	-	2	0	AP3B2	81146919	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.838000	0.99474	2.595000	0.87683	0.563000	0.77884	ACG	AP3B2	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta	ENSG00000103723		0.577	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B2	HGNC	protein_coding	OTTHUMT00000397463.1	-	0.00	22	0	G		Missense_Mutation	83349865	-1	tier1	-	no_errors	ENST00000261722	ensembl	human	known	74_37	missense	16.67	20	4	SNP	1.000	A
CHST9	83539	genome.wustl.edu	37	18	24513043	24513043	+	Intron	SNP	C	C	G			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr18:24513043C>G	ENST00000284224.8	-	5	518				CHST9_ENST00000581714.1_Intron|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|CHST9_ENST00000580774.1_Intron|AQP4-AS1_ENST00000579964.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9						carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					CTGGAGGAATCTACACGTGCA	0.478																																																	0													165.0	134.0	143.0					18																	24513043		692	1591	2283	SO:0001627	intron_variant	0			AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"""Sulfotransferases, membrane-bound"""	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.240+11249G>C	18.37:g.24513043C>G			Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	RNA	SNP	-	NULL	ENST00000284224.8	37	NULL	CCDS42422.1	18																																																																																			AQP4-AS1	-	-	ENSG00000260372		0.478	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP4-AS1	HGNC	protein_coding	OTTHUMT00000446549.1	-	0.00	44	0	C	NM_031422		24513043	+1	tier1	-	no_errors	ENST00000568797	ensembl	human	known	74_37	rna	34.38	21	11	SNP	0.000	G
ARHGAP5	394	genome.wustl.edu	37	14	32559966	32559966	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr14:32559966G>A	ENST00000345122.3	+	2	406	c.91G>A	c.(91-93)Gga>Aga	p.G31R	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.G31R|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.G31R|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.G31R	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	31					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGGTAACTGTGGAGTTGGAAA	0.418																																					NSCLC(9;77 350 3443 29227 41353)												0													115.0	108.0	110.0					14																	32559966		2203	4299	6502	SO:0001583	missense	0			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.91G>A	14.37:g.32559966G>A	ENSP00000371897:p.Gly31Arg		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase	p.G31R	ENST00000345122.3	37	c.91	CCDS32062.1	14	.	.	.	.	.	.	.	.	.	.	G	32	5.181402	0.94885	.	.	ENSG00000100852	ENST00000555814;ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921;ENST00000556191	D;D;D;D;D;T	0.84589	-1.87;-1.72;-1.72;-1.72;-1.72;0.56	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.93003	0.7773	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93493	0.6837	10	0.87932	D	0	.	19.5028	0.95103	0.0:0.0:1.0:0.0	.	31;31	Q13017-2;Q13017	.;RHG05_HUMAN	R	31	ENSP00000452372:G31R;ENSP00000452222:G31R;ENSP00000441692:G31R;ENSP00000371897:G31R;ENSP00000393307:G31R;ENSP00000451579:G31R	ENSP00000371897:G31R	G	+	1	0	ARHGAP5	31629717	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.595000	0.87683	0.650000	0.86243	GGA	ARHGAP5	-	superfamily_P-loop_NTPase,prints_Small_GTPase	ENSG00000100852		0.418	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	HGNC	protein_coding	OTTHUMT00000409735.1	-	0.00	55	0	G	NM_001030055		32559966	+1	tier1	-	no_errors	ENST00000345122	ensembl	human	known	74_37	missense	35.21	46	25	SNP	1.000	A
ASXL3	80816	genome.wustl.edu	37	18	31323377	31323377	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr18:31323377A>G	ENST00000269197.5	+	12	3565	c.3565A>G	c.(3565-3567)Agt>Ggt	p.S1189G		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1189					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(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCTTAACCCAAGTAAACTTCC	0.428																																																	0													50.0	48.0	48.0					18																	31323377		1900	4124	6024	SO:0001583	missense	0			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.3565A>G	18.37:g.31323377A>G	ENSP00000269197:p.Ser1189Gly		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.S1189G	ENST00000269197.5	37	c.3565	CCDS45847.1	18	.	.	.	.	.	.	.	.	.	.	A	5.863	0.343340	0.11069	.	.	ENSG00000141431	ENST00000269197	T	0.46063	0.88	5.91	-6.4	0.01944	.	1.072570	0.07148	N	0.848496	T	0.20659	0.0497	N	0.14661	0.345	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.31833	-0.9929	10	0.59425	D	0.04	.	4.9399	0.13960	0.2244:0.2202:0.4633:0.0921	.	1189	Q9C0F0	ASXL3_HUMAN	G	1189	ENSP00000269197:S1189G	ENSP00000269197:S1189G	S	+	1	0	ASXL3	29577375	0.000000	0.05858	0.000000	0.03702	0.112000	0.19704	0.196000	0.17176	-0.675000	0.05246	-0.256000	0.11100	AGT	ASXL3	-	NULL	ENSG00000141431		0.428	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	HGNC	protein_coding	OTTHUMT00000441865.2	-	0.00	24	0	A			31323377	+1	tier1	-	no_errors	ENST00000269197	ensembl	human	known	74_37	missense	19.05	17	4	SNP	0.000	G
ATG16L2	89849	genome.wustl.edu	37	11	72538335	72538335	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr11:72538335G>T	ENST00000321297.5	+	14	1607	c.1469G>T	c.(1468-1470)aGc>aTc	p.S490I	ATG16L2_ENST00000534905.1_Intron	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	490					autophagy (GO:0006914)|negative stranded viral RNA replication (GO:0039689)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			TTCTGGGACAGCAGGTGACAG	0.562																																																	0													81.0	72.0	75.0					11																	72538335		2200	4293	6493	SO:0001583	missense	0			AK024423	CCDS31634.1	11q13.4	2014-02-12	2012-06-06		ENSG00000168010	ENSG00000168010		"""WD repeat domain containing"""	25464	protein-coding gene	gene with protein product			"""ATG16 autophagy related 16-like 2 (S. cerevisiae)"""			11214971	Standard	XM_005274378		Approved	FLJ00012, WDR80, ATG16B	uc001otd.3	Q8NAA4	OTTHUMG00000167961	ENST00000321297.5:c.1469G>T	11.37:g.72538335G>T	ENSP00000326340:p.Ser490Ile		A5PL30|B2RPK5|Q658V4|Q6PID3|Q8NBG0	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Autophagy-rel_prot_16,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S490I	ENST00000321297.5	37	c.1469	CCDS31634.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.47|15.47	2.842675|2.842675	0.51057|0.51057	.|.	.|.	ENSG00000168010|ENSG00000168010	ENST00000540222|ENST00000321297;ENST00000538973;ENST00000541367	.|T;T;T	.|0.79940	.|-1.32;-1.32;-1.32	5.93|5.93	5.93|5.93	0.95920|0.95920	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	.|0.000000	.|0.64402	.|D	.|0.000005	T|T	0.79776|0.79776	0.4504|0.4504	N|N	0.16567|0.16567	0.415|0.415	0.80722|0.80722	D|D	1|1	.|D;B	.|0.76494	.|0.999;0.057	.|D;B	.|0.72075	.|0.976;0.023	T|T	0.72250|0.72250	-0.4348|-0.4348	5|10	.|0.02654	.|T	.|1	.|.	17.8376|17.8376	0.88704|0.88704	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|384;490	.|Q8NAA4-2;Q8NAA4	.|.;A16L2_HUMAN	H|I	267|490;321;321	.|ENSP00000326340:S490I;ENSP00000441989:S321I;ENSP00000437412:S321I	.|ENSP00000326340:S490I	Q|S	+|+	3|2	2|0	ATG16L2|ATG16L2	72215983|72215983	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	2.579000|2.579000	0.46059|0.46059	2.815000|2.815000	0.96918|0.96918	0.561000|0.561000	0.74099|0.74099	CAG|AGC	ATG16L2	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	ENSG00000168010		0.562	ATG16L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG16L2	HGNC	protein_coding	OTTHUMT00000397305.1	-	0.00	41	0	G	NM_033388		72538335	+1	tier1	-	no_errors	ENST00000321297	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T
ATM	472	genome.wustl.edu	37	11	108168036	108168036	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr11:108168036G>T	ENST00000452508.2	+	34	5121	c.4932G>T	c.(4930-4932)atG>atT	p.M1644I	ATM_ENST00000278616.4_Missense_Mutation_p.M1644I			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1644					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ATGGGATTATGGTGAAACTAG	0.318			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0													93.0	89.0	90.0					11																	108168036		2201	4298	6499	SO:0001583	missense	0	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.4932G>T	11.37:g.108168036G>T	ENSP00000388058:p.Met1644Ile		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.M1644I	ENST00000452508.2	37	c.4932	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	G	11.25	1.582922	0.28268	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.70516	-0.49;-0.49	4.97	4.06	0.47325	Armadillo-type fold (1);	0.235233	0.51477	D	0.000097	T	0.52869	0.1761	L	0.27053	0.805	0.24589	N	0.993836	B	0.02656	0.0	B	0.04013	0.001	T	0.33675	-0.9859	10	0.20519	T	0.43	.	8.5333	0.33349	0.2431:0.0:0.7569:0.0	.	1644	Q13315	ATM_HUMAN	I	1644	ENSP00000278616:M1644I;ENSP00000388058:M1644I	ENSP00000278616:M1644I	M	+	3	0	ATM	107673246	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	2.419000	0.44671	1.224000	0.43551	0.655000	0.94253	ATG	ATM	-	superfamily_ARM-type_fold	ENSG00000149311		0.318	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1		0.00	22	0	G	NM_000051		108168036	+1			no_errors	ENST00000278616	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T
ATP2A3	489	genome.wustl.edu	37	17	3839574	3839574	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr17:3839574G>T	ENST00000352011.3	-	16	2565	c.2511C>A	c.(2509-2511)taC>taA	p.Y837*	ATP2A3_ENST00000397043.3_Nonsense_Mutation_p.Y837*|ATP2A3_ENST00000309890.7_Nonsense_Mutation_p.Y837*|ATP2A3_ENST00000397035.3_Nonsense_Mutation_p.Y837*|ATP2A3_ENST00000359983.3_Nonsense_Mutation_p.Y837*|ATP2A3_ENST00000397041.3_Nonsense_Mutation_p.Y837*|ATP2A3_ENST00000397039.1_Nonsense_Mutation_p.Y21*			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	837					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CGATAGCCAGGTATCGGAAGA	0.597																																					GBM(32;29 774 15719 37967)												0													48.0	52.0	51.0					17																	3839574		2203	4300	6503	SO:0001587	stop_gained	0				CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.2511C>A	17.37:g.3839574G>T	ENSP00000301387:p.Tyr837*		A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase	p.Y837*	ENST00000352011.3	37	c.2511	CCDS11041.1	17	.	.	.	.	.	.	.	.	.	.	G	40	7.981601	0.98594	.	.	ENSG00000074370	ENST00000397043;ENST00000397039;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	.	.	.	4.43	-1.46	0.08800	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.005	0.53255	0.339:0.0:0.661:0.0	.	.	.	.	X	837;21;837;837;837;837;837;837	.	ENSP00000312577:Y837X	Y	-	3	2	ATP2A3	3786323	1.000000	0.71417	0.975000	0.42487	0.883000	0.51084	0.736000	0.26130	-0.308000	0.08792	-0.258000	0.10820	TAC	ATP2A3	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_IIA	ENSG00000074370		0.597	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	ATP2A3	HGNC	protein_coding	OTTHUMT00000438401.1	-	0.00	70	0	G	NM_174953		3839574	-1	tier1	-	no_errors	ENST00000359983	ensembl	human	known	74_37	nonsense	13.56	51	8	SNP	0.987	T
ATP2C1	27032	genome.wustl.edu	37	3	130683834	130683834	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr3:130683834C>A	ENST00000510168.1	+	14	1617	c.1067C>A	c.(1066-1068)aCg>aAg	p.T356K	ATP2C1_ENST00000504381.1_Missense_Mutation_p.T301K|ATP2C1_ENST00000428331.2_Missense_Mutation_p.T356K|ATP2C1_ENST00000505330.1_Missense_Mutation_p.T340K|ATP2C1_ENST00000508532.1_Missense_Mutation_p.T356K|ATP2C1_ENST00000328560.8_Missense_Mutation_p.T356K|ATP2C1_ENST00000533801.2_Missense_Mutation_p.T351K|ATP2C1_ENST00000359644.3_Missense_Mutation_p.T356K|ATP2C1_ENST00000507488.2_Missense_Mutation_p.T340K|ATP2C1_ENST00000504948.1_Missense_Mutation_p.T340K|ATP2C1_ENST00000422190.2_Missense_Mutation_p.T356K|ATP2C1_ENST00000513801.1_Missense_Mutation_p.T340K|ATP2C1_ENST00000393221.4_Missense_Mutation_p.T390K			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	356					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGAACACTGACGAAGAATGAA	0.333									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)												0													154.0	141.0	145.0					3																	130683834		2203	4299	6502	SO:0001583	missense	0	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.1067C>A	3.37:g.130683834C>A	ENSP00000427461:p.Thr356Lys		B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase	p.T390K	ENST00000510168.1	37	c.1169	CCDS46914.1	3	.	.	.	.	.	.	.	.	.	.	C	32	5.131049	0.94473	.	.	ENSG00000017260	ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421;ENST00000515854	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99282	-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-5.68	5.53	5.53	0.82687	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.99753	0.9901	H	0.99197	4.465	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97010	0.9735	10	0.87932	D	0	.	19.8113	0.96547	0.0:1.0:0.0:0.0	.	390;351;390;356;390;356;356	G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194	.;.;.;.;.;.;AT2C1_HUMAN	K	340;301;340;390;351;356;356;340;340;356;356;356;356;355;95	ENSP00000423774:T340K;ENSP00000425320:T301K;ENSP00000421326:T340K;ENSP00000376914:T390K;ENSP00000432956:T351K;ENSP00000427461:T356K;ENSP00000424783:T356K;ENSP00000423330:T340K;ENSP00000422872:T340K;ENSP00000329664:T356K;ENSP00000395809:T356K;ENSP00000352665:T356K;ENSP00000402677:T356K;ENSP00000422890:T95K	ENSP00000329664:T356K	T	+	2	0	ATP2C1	132166524	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	7.442000	0.80503	2.746000	0.94184	0.561000	0.74099	ACG	ATP2C1	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000017260		0.333	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATP2C1	HGNC	protein_coding	OTTHUMT00000356648.2		0.00	65	0	C	NM_001001486		130683834	+1			no_errors	ENST00000393221	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	A
B3GNT1	11041	genome.wustl.edu	37	11	66114142	66114142	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr11:66114142C>A	ENST00000311181.4	-	1	1021	c.875G>T	c.(874-876)tGc>tTc	p.C292F	BRMS1_ENST00000425825.2_5'Flank|BRMS1_ENST00000359957.3_5'Flank|RP11-867G23.8_ENST00000531602.1_5'Flank	NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	292					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						GCAGGGGGTGCACAACCCATA	0.622																																																	0													44.0	49.0	47.0					11																	66114142		2200	4295	6495	SO:0001583	missense	0			AF029893	CCDS8136.1	11q13.2	2014-07-08	2006-04-12	2006-04-12	ENSG00000174684	ENSG00000174684	2.4.1.149	"""Beta 3-glycosyltransferases"""	15685	protein-coding gene	gene with protein product	"""N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"""	605517	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6"""	B3GNT6		9405606	Standard	NM_006876		Approved	iGNT, iGAT, iGnT, BETA3GNTI, B3GN-T1	uc001ohr.3	O43505	OTTHUMG00000167082	ENST00000311181.4:c.875G>T	11.37:g.66114142C>A	ENSP00000309096:p.Cys292Phe		Q4TTN0	Missense_Mutation	SNP	NULL	p.C292F	ENST00000311181.4	37	c.875	CCDS8136.1	11	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715071	0.68844	.	.	ENSG00000174684	ENST00000311181;ENST00000538757	T	0.24350	1.86	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.38161	0.1030	L	0.39020	1.185	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.03662	-1.1015	10	0.07325	T	0.83	-38.3102	17.0808	0.86598	0.0:1.0:0.0:0.0	.	292	O43505	B3GN1_HUMAN	F	292;63	ENSP00000309096:C292F	ENSP00000309096:C292F	C	-	2	0	B3GNT1	65870718	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.360000	0.79487	2.646000	0.89796	0.563000	0.77884	TGC	B3GNT1	-	NULL	ENSG00000174684		0.622	B3GNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT1	HGNC	protein_coding	OTTHUMT00000392959.1		0.00	23	0	C	NM_006876		66114142	-1			no_errors	ENST00000311181	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	A
BAZ1B	9031	genome.wustl.edu	37	7	72856562	72856562	+	Silent	SNP	G	G	A			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr7:72856562G>A	ENST00000339594.4	-	19	4754	c.4416C>T	c.(4414-4416)gcC>gcT	p.A1472A	BAZ1B_ENST00000404251.1_Silent_p.A1472A	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1472					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				ACTGTCCAACGGCCTCTGGCT	0.587																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)												0													166.0	167.0	166.0					7																	72856562		2203	4300	6503	SO:0001819	synonymous_variant	0			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.4416C>T	7.37:g.72856562G>A			B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Silent	SNP	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.A1472	ENST00000339594.4	37	c.4416	CCDS5549.1	7																																																																																			BAZ1B	-	NULL	ENSG00000009954		0.587	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1B	HGNC	protein_coding	OTTHUMT00000252123.4	-	0.00	27	0	G	NM_032408		72856562	-1	tier1	-	no_errors	ENST00000339594	ensembl	human	known	74_37	silent	26.32	28	10	SNP	0.001	A
BBS7	55212	genome.wustl.edu	37	4	122780222	122780222	+	Silent	SNP	G	G	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr4:122780222G>T	ENST00000264499.4	-	5	636	c.453C>A	c.(451-453)atC>atA	p.I151I	BBS7_ENST00000506636.1_Silent_p.I151I	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	151					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CTGGAAGGCAGATCACATCAT	0.398									Bardet-Biedl syndrome																																								0													145.0	151.0	149.0					4																	122780222		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.453C>A	4.37:g.122780222G>T			Q4W5P8|Q8N581|Q9NVI4	Silent	SNP	superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot	p.I151	ENST00000264499.4	37	c.453	CCDS3724.1	4																																																																																			BBS7	-	superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot	ENSG00000138686		0.398	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS7	HGNC	protein_coding	OTTHUMT00000256716.1	-	0.00	49	0	G			122780222	-1	tier1	-	no_errors	ENST00000264499	ensembl	human	known	74_37	silent	34.15	27	14	SNP	1.000	T
BRD7	29117	genome.wustl.edu	37	16	50357595	50357595	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr16:50357595delA	ENST00000394688.3	-	12	1505	c.1346delT	c.(1345-1347)ttgfs	p.L449fs	BRD7_ENST00000394689.2_Frame_Shift_Del_p.L449fs			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	449					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				GCACGTGGCCAAAAACTCATG	0.448																																																	0													87.0	74.0	79.0					16																	50357595		2198	4300	6498	SO:0001589	frameshift_variant	0			AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"""bromodomain-containing 7"""			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.1346delT	16.37:g.50357595delA	ENSP00000378180:p.Leu449fs		Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Frame_Shift_Del	DEL	pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.L449fs	ENST00000394688.3	37	c.1346	CCDS10742.1	16																																																																																			BRD7	-	pfam_DUF3512	ENSG00000166164		0.448	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BRD7	HGNC	protein_coding	OTTHUMT00000256874.3		0.00	49	0	A	NM_013263		50357595	-1	tier1		no_errors	ENST00000394689	ensembl	human	known	74_37	frame_shift_del	51.92	25	27	DEL	1.000	-
C17orf49	124944	genome.wustl.edu	37	17	6919106	6919106	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr17:6919106G>A	ENST00000439424.2	+	3	206	c.130G>A	c.(130-132)Gag>Aag	p.E44K	AC040977.1_ENST00000593646.1_5'Flank|RP11-589P10.7_ENST00000572547.1_RNA|MIR497HG_ENST00000572453.1_RNA|C17orf49_ENST00000546495.1_Missense_Mutation_p.E44K|MIR497HG_ENST00000385194.1_RNA|MIR497HG_ENST00000443997.1_RNA|MIR497HG_ENST00000385056.1_RNA|C17orf49_ENST00000546760.1_Missense_Mutation_p.E44K|C17orf49_ENST00000552775.1_Missense_Mutation_p.E18K|RNASEK-C17orf49_ENST00000547302.2_Silent_p.R84R|C17orf49_ENST00000552402.1_Intron	NM_001142798.2|NM_174893.3	NP_001136270.1|NP_777553.1	Q8IXM2	BAP18_HUMAN	chromosome 17 open reading frame 49	44	SANT.				chromatin modification (GO:0016568)	MLL1 complex (GO:0071339)|NURF complex (GO:0016589)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|ovary(1)	4						GAAGTGGACGGAGACGGAAAT	0.572																																																	0													83.0	72.0	75.0					17																	6919106		2203	4300	6503	SO:0001583	missense	0			AK055800	CCDS32542.1, CCDS45595.1, CCDS45596.1	17p13.1	2013-02-11			ENSG00000258315	ENSG00000258315			28737	protein-coding gene	gene with protein product	"""BPTF associated protein of 18 kDa"", ""human embryo lung cellular protein interacting with SARS-CoV nsp-10"""						Standard	NM_174893		Approved	MGC49942, BAP18, HEPIS		Q8IXM2	OTTHUMG00000170147	ENST00000439424.2:c.130G>A	17.37:g.6919106G>A	ENSP00000411851:p.Glu44Lys		B4DIV3|C9J4G0|E9PB29	Missense_Mutation	SNP	superfamily_Homeodomain-like	p.E44K	ENST00000439424.2	37	c.130	CCDS32542.1	17	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758146	0.89843	.	.	ENSG00000161939;ENSG00000258315;ENSG00000258315;ENSG00000258315;ENSG00000258315	ENST00000293804;ENST00000546495;ENST00000546760;ENST00000439424;ENST00000552775	.	.	.	4.84	4.84	0.62591	SANT domain, DNA binding (1);Homeodomain-like (1);	0.184484	0.45606	D	0.000350	T	0.53642	0.1809	L	0.59436	1.845	0.30895	N	0.729931	B;B;B	0.34290	0.081;0.275;0.447	B;B;B	0.29942	0.046;0.109;0.109	T	0.69198	-0.5208	8	0.72032	D	0.01	-6.7344	15.466	0.75400	0.0:0.0:1.0:0.0	.	44;44;18	C9J4G0;Q8IXM2;F8W1H0	.;BAP18_HUMAN;.	K	44;44;44;44;18	.	ENSP00000411851:E44K	E	+	1	0	AC040977.1;C17orf49	6859830	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.624000	0.83124	2.496000	0.84212	0.563000	0.77884	GAG	C17orf49	-	superfamily_Homeodomain-like	ENSG00000258315		0.572	C17orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf49	HGNC	protein_coding	OTTHUMT00000407666.1		0.00	56	0	G	NM_174893		6919106	+1			no_errors	ENST00000546495	ensembl	human	known	74_37	missense	6.38	44	3	SNP	1.000	A
RSRP1	57035	genome.wustl.edu	37	1	25573454	25573454	+	Start_Codon_SNP	SNP	T	T	A			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr1:25573454T>A	ENST00000243189.7	-	2	277	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	C1orf63_ENST00000431849.2_Start_Codon_SNP_p.M1L|C1orf63_ENST00000417642.2_5'UTR|RP3-465N24.6_ENST00000607698.1_lincRNA	NM_020317.3	NP_064713.3	Q9BUV0	RSRP1_HUMAN		1										breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TAGTTGGACATCTTCACCTGC	0.592																																																	0													34.0	36.0	35.0					1																	25573454		2147	4207	6354	SO:0001582	initiator_codon_variant	0																														ENST00000243189.7:c.1A>T	1.37:g.25573454T>A	ENSP00000243189:p.Met1Leu		A8K917|Q49AA4|Q5TH71|Q9GZP6	Missense_Mutation	SNP	NULL	p.M1L	ENST00000243189.7	37	c.1	CCDS260.1	1	.	.	.	.	.	.	.	.	.	.	t	13.02	2.112534	0.37242	.	.	ENSG00000117616	ENST00000243189;ENST00000431849;ENST00000511740	T;T	0.47869	1.44;0.83	4.78	2.35	0.29111	.	0.132342	0.34245	N	0.004135	T	0.33760	0.0874	.	.	.	0.09310	N	0.999999	B	0.24368	0.102	B	0.23852	0.049	T	0.22382	-1.0218	9	0.49607	T	0.09	-14.419	6.67	0.23064	0.0:0.2098:0.0:0.7902	.	1	Q9BUV0	CA063_HUMAN	L	1	ENSP00000243189:M1L;ENSP00000391510:M1L	ENSP00000243189:M1L	M	-	1	0	C1orf63	25446041	0.967000	0.33354	0.076000	0.20297	0.812000	0.45895	1.617000	0.36943	0.289000	0.22422	0.459000	0.35465	ATG	C1orf63	-	NULL	ENSG00000117616		0.592	C1orf63-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C1orf63	HGNC	protein_coding	OTTHUMT00000101966.2	-	0.00	103	0	T		Missense_Mutation	25573454	-1	tier1	-	no_errors	ENST00000243189	ensembl	human	known	74_37	missense	5.95	79	5	SNP	0.250	A
C2orf40	84417	genome.wustl.edu	37	2	106690370	106690370	+	Silent	SNP	C	C	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr2:106690370C>T	ENST00000238044.3	+	3	265	c.156C>T	c.(154-156)gcC>gcT	p.A52A	C2orf40_ENST00000489174.1_3'UTR|C2orf40_ENST00000409944.1_Silent_p.A16A	NM_032411.2	NP_115787.1	Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	52			A -> T (in dbSNP:rs10187689).		cellular senescence (GO:0090398)|cyclin catabolic process (GO:0008054)|G1 to G0 transition (GO:0070314)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				lung(7)|urinary_tract(1)	8						CTAAAGTGGCCGTTGATGAGA	0.527																																																	0													127.0	140.0	136.0					2																	106690370		2203	4300	6503	SO:0001819	synonymous_variant	0			BC021742	CCDS2072.1	2q12.2	2014-01-28			ENSG00000119147	ENSG00000119147			24642	protein-coding gene	gene with protein product	"""esophageal cancer related gene 4 protein"""	611752				12800218	Standard	NM_032411		Approved	ECRG4, augurin	uc010fjf.3	Q9H1Z8	OTTHUMG00000130921	ENST00000238044.3:c.156C>T	2.37:g.106690370C>T			D3DVK2	Silent	SNP	NULL	p.A52	ENST00000238044.3	37	c.156	CCDS2072.1	2																																																																																			C2orf40	-	NULL	ENSG00000119147		0.527	C2orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf40	HGNC	protein_coding	OTTHUMT00000253515.2	-	0.00	85	0	C	NM_032411		106690370	+1	tier1	-	no_errors	ENST00000238044	ensembl	human	known	74_37	silent	23.38	59	18	SNP	0.018	T
C6orf118	168090	genome.wustl.edu	37	6	165715750	165715750	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr6:165715750C>T	ENST00000230301.8	-	2	81	c.61G>A	c.(61-63)Gtg>Atg	p.V21M	C6orf118_ENST00000543069.1_De_novo_Start_InFrame	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	21										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		AGGGTCTTCACGCCTGGCGTC	0.517																																																	0													55.0	59.0	57.0					6																	165715750		2203	4300	6503	SO:0001583	missense	0				CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.61G>A	6.37:g.165715750C>T	ENSP00000230301:p.Val21Met		Q8TC11	Missense_Mutation	SNP	superfamily_Ribonuclease/ribotoxin	p.V21M	ENST00000230301.8	37	c.61	CCDS5288.1	6	.	.	.	.	.	.	.	.	.	.	-	10.40	1.338865	0.24253	.	.	ENSG00000112539	ENST00000230301	T	0.15487	2.42	3.46	-2.24	0.06909	.	.	.	.	.	T	0.01558	0.0050	N	0.08118	0	0.09310	N	0.999999	P	0.41624	0.757	B	0.27076	0.076	T	0.41752	-0.9491	9	0.46703	T	0.11	.	4.4331	0.11538	0.0:0.3138:0.1769:0.5093	.	21	Q5T5N4	CF118_HUMAN	M	21	ENSP00000230301:V21M	ENSP00000230301:V21M	V	-	1	0	C6orf118	165635740	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.430000	0.06973	-0.511000	0.06514	-0.271000	0.10264	GTG	C6orf118	-	NULL	ENSG00000112539		0.517	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf118	HGNC	protein_coding	OTTHUMT00000043026.1	-	0.00	14	0	C	NM_144980		165715750	-1	tier1	-	no_errors	ENST00000230301	ensembl	human	known	74_37	missense	35.48	20	11	SNP	0.000	T
CADM1	23705	genome.wustl.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr11:115080343G>T	ENST00000452722.3	-	8	1049	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_ENST00000537058.1_Silent_p.T343T|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000536727.1_Intron	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.T343T(5)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433																																																	5	Substitution - coding silent(5)	kidney(3)|lung(2)											45.0	50.0	49.0					11																	115080343		2201	4296	6497	SO:0001819	synonymous_variant	0			AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1029C>A	11.37:g.115080343G>T				Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom	p.T343	ENST00000452722.3	37	c.1029	CCDS8373.1	11																																																																																			CADM1	-	NULL	ENSG00000182985		0.433	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CADM1	HGNC	protein_coding	OTTHUMT00000398753.2	-	0.00	37	0	G	NM_014333		115080343	-1	tier1	-	no_errors	ENST00000452722	ensembl	human	known	74_37	silent	10.64	42	5	SNP	1.000	T
CCDC88A	55704	genome.wustl.edu	37	2	55523495	55523495	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr2:55523495G>C	ENST00000436346.1	-	30	5831	c.4990C>G	c.(4990-4992)Ctg>Gtg	p.L1664V	CCDC88A_ENST00000422883.2_Missense_Mutation_p.L165V|CCDC88A_ENST00000413716.2_Missense_Mutation_p.L1663V|CCDC88A_ENST00000336838.6_Missense_Mutation_p.L1663V|CCDC88A_ENST00000263630.8_Missense_Mutation_p.L1636V	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1664					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CGACTCTCCAGTGTTTCAGAT	0.448																																																	0													161.0	134.0	143.0					2																	55523495		2203	4300	6503	SO:0001583	missense	0			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.4990C>G	2.37:g.55523495G>C	ENSP00000410608:p.Leu1664Val		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE	p.L1664V	ENST00000436346.1	37	c.4990		2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	0.356|0.356|0.356	-0.942124|-0.942124|-0.942124	0.02322|0.02322|0.02322	.|.|.	.|.|.	ENSG00000115355|ENSG00000115355|ENSG00000115355	ENST00000444458|ENST00000336838;ENST00000263630;ENST00000436346;ENST00000422883;ENST00000412148;ENST00000413716;ENST00000426576|ENST00000456975	.|T;T;T;T;T;T|.	.|0.44881|.	.|2.58;2.69;2.8;0.91;2.54;1.53|.	5.15|5.15|5.15	-2.79|-2.79|-2.79	0.05841|0.05841|0.05841	.|.|.	.|0.630083|.	.|0.12966|.	.|N|.	.|0.424555|.	T|T|T	0.18882|0.18882|0.18882	0.0453|0.0453|0.0453	L|L|L	0.40543|0.40543|0.40543	1.245|1.245|1.245	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|B;B;B;B;B;B;B|.	.|0.16603|.	.|0.0;0.0;0.0;0.018;0.0;0.0;0.0|.	.|B;B;B;B;B;B;B|.	.|0.14578|.	.|0.001;0.001;0.0;0.011;0.0;0.001;0.001|.	T|T|T	0.36065|0.36065|0.36065	-0.9763|-0.9763|-0.9763	5|10|6	.|0.17832|0.06236	.|T|T	.|0.49|0.91	2.6188|2.6188|2.6188	2.4158|2.4158|2.4158	0.04436|0.04436|0.04436	0.2492:0.3082:0.3373:0.1053|0.2492:0.3082:0.3373:0.1053|0.2492:0.3082:0.3373:0.1053	.|.|.	.|1663;1636;1581;165;1664;1663;1635|.	.|B7ZM78;Q3V6T2-2;D6W5D1;B3KW94;Q3V6T2;Q3V6T2-3;Q3V6T2-4|.	.|.;.;.;.;GRDN_HUMAN;.;.|.	Q|V|S	166|1663;1636;1664;165;681;1663;839|616	.|ENSP00000338728:L1663V;ENSP00000263630:L1636V;ENSP00000410608:L1664V;ENSP00000390012:L681V;ENSP00000404431:L1663V;ENSP00000405080:L839V|.	.|ENSP00000263630:L1636V|ENSP00000415267:T616S	H|L|T	-|-|-	3|1|2	2|2|0	CCDC88A|CCDC88A|CCDC88A	55376999|55376999|55376999	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.120000|0.120000|0.120000	0.21714|0.21714|0.21714	0.487000|0.487000|0.487000	0.33371|0.33371|0.33371	-0.485000|-0.485000|-0.485000	0.06520|0.06520|0.06520	-1.092000|-1.092000|-1.092000	0.03062|0.03062|0.03062	-0.218000|-0.218000|-0.218000	0.12543|0.12543|0.12543	CAC|CTG|ACT	CCDC88A	-	NULL	ENSG00000115355		0.448	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding		-	0.00	45	0	G	NM_017571		55523495	-1	tier1	-	no_errors	ENST00000436346	ensembl	human	known	74_37	missense	13.21	46	7	SNP	0.000	C
CCM2L	140706	genome.wustl.edu	37	20	30602783	30602783	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr20:30602783G>A	ENST00000300415.8	+	2	120	c.107G>A	c.(106-108)cGc>cAc	p.R36H	CCM2L_ENST00000262659.8_Missense_Mutation_p.R36H			Q9NUG4	CCM2L_HUMAN	cerebral cavernous malformation 2-like	36																	AGCGTGAGCCGCCGGCCCCTG	0.632																																																	0													73.0	73.0	73.0					20																	30602783		2203	4300	6503	SO:0001583	missense	0			AL031658	CCDS13195.1	20q11.21	2012-10-30	2012-10-30	2012-10-30	ENSG00000101331	ENSG00000101331			16153	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 160"""	C20orf160			Standard	NM_080625		Approved	dJ310O13.5	uc002wxf.2	Q9NUG4	OTTHUMG00000032197	ENST00000300415.8:c.107G>A	20.37:g.30602783G>A	ENSP00000300415:p.Arg36His		Q5JYR9|Q8N5F1|Q8N6G8|Q96MD5	Missense_Mutation	SNP	NULL	p.R36H	ENST00000300415.8	37	c.107		20	.	.	.	.	.	.	.	.	.	.	G	34	5.307386	0.95629	.	.	ENSG00000101331	ENST00000300415;ENST00000339619;ENST00000262659	T;T	0.59906	0.23;0.23	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.77377	0.4121	M	0.80422	2.495	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.81328	-0.0982	10	0.87932	D	0	-39.7528	16.7122	0.85388	0.0:0.0:1.0:0.0	.	36	Q9NUG4-2	.	H	36	ENSP00000300415:R36H;ENSP00000262659:R36H	ENSP00000262659:R36H	R	+	2	0	C20orf160	30066444	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.977000	0.93446	2.418000	0.82041	0.655000	0.94253	CGC	CCM2L	-	NULL	ENSG00000101331		0.632	CCM2L-201	KNOWN	basic|appris_candidate_longest	protein_coding	CCM2L	HGNC	protein_coding		-	0.00	34	0	G	NM_080625		30602783	+1	tier1	-	no_errors	ENST00000300415	ensembl	human	known	74_37	missense	32.61	31	15	SNP	1.000	A
CD46	4179	genome.wustl.edu	37	1	207934458	207934460	+	Intron	DEL	CTT	CTT	-	rs7354903		TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr1:207934458_207934460delCTT	ENST00000358170.2	+	5	631				CD46_ENST00000354848.1_Intron|CD46_ENST00000480003.1_Intron|CD46_ENST00000322918.5_Intron|CD46_ENST00000322875.4_Intron|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000360212.2_Intron|CD46_ENST00000357714.1_Intron|CD46_ENST00000361067.1_Intron|CD46_ENST00000367047.1_Intron|CD46_ENST00000367042.1_Intron|CD46_ENST00000441839.2_Intron|CD46_ENST00000367041.1_Intron	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein						adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TCATAGAAACCTTCTTTTAAATC	0.271																																																	0																																										SO:0001627	intron_variant	0			BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"""CD molecules"", ""Complement system"""	6953	protein-coding gene	gene with protein product		120920	"""antigen identified by monoclonal antibody TRA-2-10"", ""membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)"", ""CD46 antigen, complement regulatory protein"""	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.476-134CTT>-	1.37:g.207934461_207934463delCTT			A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	RNA	DEL	-	NULL	ENST00000358170.2	37	NULL	CCDS1485.1	1																																																																																			CD46	-	-	ENSG00000117335		0.271	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD46	HGNC	protein_coding	OTTHUMT00000088588.3		0.00	21	0	CTT	NM_172361		207934460	+1	tier1		no_errors	ENST00000469535	ensembl	human	known	74_37	rna	11.11	16	2	DEL	0.000:0.000:0.001	-
CDH22	64405	genome.wustl.edu	37	20	44803571	44803571	+	Silent	SNP	C	C	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr20:44803571C>T	ENST00000372262.3	-	11	2461	c.2061G>A	c.(2059-2061)gcG>gcA	p.A687A	CDH22_ENST00000537909.1_Silent_p.A687A	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	687					brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GGCTCCGCAGCGCCGACATGT	0.711																																																	0													19.0	20.0	20.0					20																	44803571		2082	4211	6293	SO:0001819	synonymous_variant	0			AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.2061G>A	20.37:g.44803571C>T			B9EGK7|O43205	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A687	ENST00000372262.3	37	c.2061	CCDS13395.1	20																																																																																			CDH22	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000149654		0.711	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH22	HGNC	protein_coding	OTTHUMT00000080491.1	-	0.00	28	0	C	NM_021248		44803571	-1	tier1	-	no_errors	ENST00000372262	ensembl	human	known	74_37	silent	8.51	43	4	SNP	1.000	T
CDKN2A	1029	genome.wustl.edu	37	9	21974717	21974718	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr9:21974717_21974718insC	ENST00000304494.5	-	1	379_380	c.109_110insG	c.(109-111)ctgfs	p.L37fs	CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.L37fs|CDKN2A_ENST00000579755.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.L37fs|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.L37fs|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	37					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.L32_L37del(5)|p.L37L(2)|p.G35fs*13(1)|p.0(1)|p.V28_V51del(1)|p.P38fs*7(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCGTTGGGCAGCGCCCCCGCC	0.713		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1349	Whole gene deletion(1316)|Unknown(23)|Deletion - In frame(6)|Substitution - coding silent(2)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(278)|skin(171)|central_nervous_system(163)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|oesophagus(54)|pleura(52)|upper_aerodigestive_tract(49)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|NS(13)|biliary_tract(13)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)																																								SO:0001589	frameshift_variant	0			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.109_110insG	9.37:g.21974717_21974718insC	ENSP00000307101:p.Leu37fs		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Ins	INS	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.L37fs	ENST00000304494.5	37	c.110_109	CCDS6510.1	9																																																																																			CDKN2A	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000147889		0.713	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051915.1		0.00	20	0	0	NM_000077		21974718	-1			no_errors	ENST00000446177	ensembl	human	known	74_37	frame_shift_ins	25.00	6	2	INS	0.000:0.000	C
CROCCP3	114819	genome.wustl.edu	37	1	16809784	16809784	+	RNA	SNP	T	T	G	rs564105362	byFrequency	TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr1:16809784T>G	ENST00000263511.4	-	0	2001					NR_023386.1		Q8IVE0	CROL2_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 3						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CCCGGCACCTTCTCAGGAGCT	0.632													.|||	29	0.00579073	0.0083	0.0043	5008	,	,		12250	0.0069		0.005	False		,,,				2504	0.0031																0																																												0			AB067509		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000080947	ENSG00000080947			29405	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 2"""	CROCCL2		11572484	Standard	NR_023386		Approved	KIAA1922	uc001ayt.2	Q8IVE0	OTTHUMG00000037885		1.37:g.16809784T>G			Q96PW6	RNA	SNP	-	NULL	ENST00000263511.4	37	NULL		1																																																																																			CROCCP3	-	-	ENSG00000080947		0.632	CROCCP3-002	KNOWN	basic	processed_transcript	CROCCP3	HGNC	pseudogene	OTTHUMT00000458172.1		0.00	72	0	T	XM_057040		16809784	-1			no_errors	ENST00000263511	ensembl	human	known	74_37	rna	5.66	50	3	SNP	1.000	G
CUL5	8065	genome.wustl.edu	37	11	107966314	107966314	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr11:107966314G>A	ENST00000393094.2	+	16	2417	c.1801G>A	c.(1801-1803)Gct>Act	p.A601T		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	601					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		GTTTCAGCTCGCTGTATTGTT	0.353																																																	0													96.0	97.0	97.0					11																	107966314		2201	4298	6499	SO:0001583	missense	0			X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.1801G>A	11.37:g.107966314G>A	ENSP00000376808:p.Ala601Thr		A8K960|O14766|Q9BZC6	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.A601T	ENST00000393094.2	37	c.1801	CCDS31668.1	11	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408398	0.83340	.	.	ENSG00000166266	ENST00000393094	T	0.74947	-0.89	5.42	5.42	0.78866	Cullin, N-terminal (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Cullin homology (2);	0.000000	0.85682	D	0.000000	D	0.86703	0.5996	M	0.86178	2.8	0.80722	D	1	D	0.71674	0.998	P	0.61397	0.888	D	0.86621	0.1879	10	0.44086	T	0.13	-11.4654	19.5901	0.95506	0.0:0.0:1.0:0.0	.	601	Q93034	CUL5_HUMAN	T	601	ENSP00000376808:A601T	ENSP00000376808:A601T	A	+	1	0	CUL5	107471524	1.000000	0.71417	1.000000	0.80357	0.415000	0.31203	9.374000	0.97172	2.709000	0.92574	0.655000	0.94253	GCT	CUL5	-	pfam_Cullin_N,superfamily_Cullin_homology,pfscan_Cullin_homology	ENSG00000166266		0.353	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL5	HGNC	protein_coding	OTTHUMT00000389429.1	-	0.00	52	0	G			107966314	+1	tier1	-	no_errors	ENST00000393094	ensembl	human	known	74_37	missense	11.76	44	6	SNP	1.000	A
DCAF4L1	285429	genome.wustl.edu	37	4	41984592	41984592	+	Silent	SNP	G	G	C			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr4:41984592G>C	ENST00000333141.5	+	1	880	c.783G>C	c.(781-783)ggG>ggC	p.G261G		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	261										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GAGGCAAGGGGTGGAGGGCCA	0.527																																																	0													121.0	115.0	117.0					4																	41984592		2203	4300	6503	SO:0001819	synonymous_variant	0			BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"""WD repeat domain containing"""	27723	protein-coding gene	gene with protein product			"""WD repeat domain 21B"""	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.783G>C	4.37:g.41984592G>C			B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G261	ENST00000333141.5	37	c.783	CCDS33978.1	4																																																																																			DCAF4L1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000182308		0.527	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF4L1	HGNC	protein_coding	OTTHUMT00000360958.1	-	0.00	43	0	G	NM_001029955		41984592	+1	tier1	-	no_errors	ENST00000333141	ensembl	human	known	74_37	silent	26.00	37	13	SNP	0.996	C
DCDC1	341019	genome.wustl.edu	37	11	30932888	30932888	+	De_novo_Start_OutOfFrame	SNP	G	G	C			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr11:30932888G>C	ENST00000406071.2	-	0	1369				DCDC1_ENST00000339794.5_Missense_Mutation_p.P324A|DCDC1_ENST00000597505.1_Missense_Mutation_p.P1245A			P59894	DCDC1_HUMAN	doublecortin domain containing 1						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)					ACAATAACTGGATAGCCACAA	0.393																																																	0													80.0	68.0	72.0					11																	30932888		2201	4299	6500			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	ENST00000406071.2:c.-63C>G	11.37:g.30932888G>C			A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin	p.P324A	ENST00000406071.2	37	c.970		11	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341055	0.60963	.	.	ENSG00000170959	ENST00000339794	T	0.45276	0.9	6.05	6.05	0.98169	Ricin B-related lectin (1);Ricin B lectin (2);	0.000000	0.52532	D	0.000071	T	0.56630	0.1998	L	0.36672	1.1	0.30042	N	0.812525	D	0.89917	1.0	D	0.83275	0.996	T	0.54899	-0.8224	10	0.52906	T	0.07	-11.9069	17.518	0.87779	0.0:0.0:1.0:0.0	.	324	Q6ZRR9	DCDC5_HUMAN	A	324	ENSP00000341700:P324A	ENSP00000341700:P324A	P	-	1	0	DCDC5	30889464	0.867000	0.29959	0.986000	0.45419	0.920000	0.55202	1.303000	0.33470	2.878000	0.98634	0.650000	0.86243	CCA	DCDC1	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000170959		0.393	DCDC1-202	KNOWN	basic	protein_coding	DCDC1	HGNC	protein_coding			0.00	57	0	G	NM_181807		30932888	-1			no_errors	ENST00000339794	ensembl	human	known	74_37	missense	6.98	40	3	SNP	0.978	C
DCLRE1C	64421	genome.wustl.edu	37	10	14950682	14950682	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr10:14950682A>G	ENST00000378278.2	-	14	1841	c.1804T>C	c.(1804-1806)Tac>Cac	p.Y602H	DCLRE1C_ENST00000492201.1_5'Flank|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.Y255H|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.Y482H|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.Y482H|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.Y487H|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.Y487H|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.Y487H|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.Y482H|DCLRE1C_ENST00000453695.2_Missense_Mutation_p.Y482H|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.Y482H|DCLRE1C_ENST00000378289.4_Intron			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	602					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						AAATCAGAGTAAGTATCCTTT	0.388								Non-homologous end-joining																																									0													149.0	146.0	147.0					10																	14950682		2203	4300	6503	SO:0001583	missense	0			BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	605988	"""severe combined immunodeficiency, type a (Athabascan)"", ""DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"""	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.1804T>C	10.37:g.14950682A>G	ENSP00000367527:p.Tyr602His		D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	pfam_DRMBL	p.Y602H	ENST00000378278.2	37	c.1804	CCDS31149.1	10	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.618885	0.00828	.	.	ENSG00000152457	ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000378242	T;T;T;T;T;T;T;T;T	0.75260	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.92;-0.37	5.46	-0.105	0.13601	.	1.686920	0.02625	N	0.103605	T	0.57373	0.2049	L	0.28274	0.84	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.25641	-1.0126	10	0.15499	T	0.54	.	2.1852	0.03885	0.2474:0.3581:0.2753:0.1192	.	487;602	Q96SD1-3;Q96SD1	.;DCR1C_HUMAN	H	482;487;487;487;482;482;482;602;482;255	ENSP00000400529:Y482H;ENSP00000367492:Y487H;ENSP00000350349:Y487H;ENSP00000367496:Y487H;ENSP00000380030:Y482H;ENSP00000367503:Y482H;ENSP00000367502:Y482H;ENSP00000367527:Y602H;ENSP00000367506:Y482H	ENSP00000350349:Y487H	Y	-	1	0	DCLRE1C	14990688	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.149000	0.10204	0.027000	0.15297	-1.123000	0.02005	TAC	DCLRE1C	-	NULL	ENSG00000152457		0.388	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1C	HGNC	protein_coding	OTTHUMT00000046934.1	-	0.00	59	0	A	NM_022487		14950682	-1	tier1	-	no_errors	ENST00000378278	ensembl	human	known	74_37	missense	16.67	54	11	SNP	0.000	G
DDRGK1	65992	genome.wustl.edu	37	20	3175910	3175910	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr20:3175910C>G	ENST00000354488.3	-	5	657	c.600G>C	c.(598-600)gaG>gaC	p.E200D	DDRGK1_ENST00000380201.2_Missense_Mutation_p.E200D	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	200						endoplasmic reticulum (GO:0005783)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						CTACGCCTTCCTCCTCCACCA	0.627																																																	0													171.0	145.0	154.0					20																	3175910		2203	4300	6503	SO:0001583	missense	0			AL121891	CCDS13050.1	20p13	2011-08-18	2008-10-03	2008-10-03	ENSG00000198171	ENSG00000198171			16110	protein-coding gene	gene with protein product	"""Dashurin"""		"""chromosome 20 open reading frame 116"""	C20orf116		20036718, 20228063, 21494687	Standard	NM_023935		Approved	dJ1187M17.3	uc002wic.3	Q96HY6	OTTHUMG00000031732	ENST00000354488.3:c.600G>C	20.37:g.3175910C>G	ENSP00000346483:p.Glu200Asp		A6NIU5|C9JSZ5|Q9BW47	Missense_Mutation	SNP	pfam_DDRGK_dom-contain	p.E200D	ENST00000354488.3	37	c.600	CCDS13050.1	20	.	.	.	.	.	.	.	.	.	.	C	13.35	2.210463	0.39003	.	.	ENSG00000198171	ENST00000354488;ENST00000380213;ENST00000380201	T	0.54279	0.58	4.66	1.53	0.23141	.	0.158497	0.53938	D	0.000046	T	0.50786	0.1636	M	0.64676	1.99	0.48452	D	0.999658	B;B	0.32653	0.379;0.213	B;B	0.40477	0.33;0.135	T	0.48456	-0.9034	10	0.46703	T	0.11	-5.2537	8.2345	0.31618	0.0:0.7127:0.0:0.2873	.	200;200	Q96HY6-2;Q96HY6	.;DDRGK_HUMAN	D	200	ENSP00000346483:E200D	ENSP00000346483:E200D	E	-	3	2	DDRGK1	3123910	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	0.746000	0.26275	0.544000	0.28883	0.563000	0.77884	GAG	DDRGK1	-	pfam_DDRGK_dom-contain	ENSG00000198171		0.627	DDRGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDRGK1	HGNC	protein_coding	OTTHUMT00000077709.2	-	0.00	47	0	C	NM_023935		3175910	-1	tier1	-	no_errors	ENST00000354488	ensembl	human	known	74_37	missense	32.26	21	10	SNP	0.999	G
DHRS4	10901	genome.wustl.edu	37	14	24435043	24435043	+	Splice_Site	SNP	T	T	C			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr14:24435043T>C	ENST00000313250.5	+	4	682		c.e4+2		DHRS4_ENST00000421831.1_Splice_Site|DHRS4_ENST00000397075.3_Intron|DHRS4_ENST00000543741.2_Intron|DHRS4_ENST00000308178.8_Intron|DHRS4_ENST00000558263.1_Intron|DHRS4_ENST00000397074.3_Intron|DHRS4_ENST00000397073.2_Splice_Site|DHRS4_ENST00000558581.1_Splice_Site|DHRS4_ENST00000559632.1_Splice_Site|DHRS4_ENST00000382761.3_Intron	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4						alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	GAAACGAGGGTACAGAGAGTG	0.542																																																	0													121.0	110.0	114.0					14																	24435043		2191	4295	6486	SO:0001630	splice_region_variant	0			AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	16985	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 2"""	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.479+2T>C	14.37:g.24435043T>C			B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Splice_Site	SNP	-	e4+2	ENST00000313250.5	37	c.479+2	CCDS9605.1	14	.	.	.	.	.	.	.	.	.	.	t	16.89	3.247457	0.59103	.	.	ENSG00000157326	ENST00000313250;ENST00000421831;ENST00000397073	.	.	.	3.0	3.0	0.34707	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.4395	0.38659	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DHRS4	23504883	1.000000	0.71417	0.982000	0.44146	0.978000	0.69477	5.995000	0.70631	1.379000	0.46325	0.473000	0.43528	.	DHRS4	-	-	ENSG00000157326		0.542	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS4	HGNC	protein_coding	OTTHUMT00000071857.3	-	0.00	90	0	T		Intron	24435043	+1	tier1	-	no_errors	ENST00000313250	ensembl	human	known	74_37	splice_site	29.87	54	23	SNP	1.000	C
DNAH10	196385	genome.wustl.edu	37	12	124419182	124419182	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr12:124419182G>A	ENST00000409039.3	+	77	13163	c.13138G>A	c.(13138-13140)Gga>Aga	p.G4380R	CCDC92_ENST00000544798.1_Intron|RP11-380L11.3_ENST00000602292.1_RNA|DNAH10OS_ENST00000514254.2_5'UTR	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4380					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTTTGTCTCAGGACTGTACCT	0.522																																																	0													72.0	76.0	75.0					12																	124419182		2085	4224	6309	SO:0001583	missense	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.13138G>A	12.37:g.124419182G>A	ENSP00000386770:p.Gly4380Arg		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.G4380R	ENST00000409039.3	37	c.13138	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358419	0.82243	.	.	ENSG00000197653	ENST00000409039	T	0.51071	0.72	4.97	4.97	0.65823	Dynein heavy chain (1);	0.129412	0.51477	D	0.000084	D	0.83133	0.5188	H	0.99404	4.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91092	0.4907	10	0.87932	D	0	.	18.1808	0.89777	0.0:0.0:1.0:0.0	.	4380	Q8IVF4	DYH10_HUMAN	R	4380	ENSP00000386770:G4380R	ENSP00000386770:G4380R	G	+	1	0	DNAH10	122985135	1.000000	0.71417	0.960000	0.40013	0.630000	0.37929	9.781000	0.99029	2.448000	0.82819	0.561000	0.74099	GGA	DNAH10	-	pfam_Dynein_heavy_dom	ENSG00000197653		0.522	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3		0.00	40	0	G			124419182	+1			no_errors	ENST00000409039	ensembl	human	known	74_37	missense	7.89	35	3	SNP	1.000	A
EIF4E2	9470	genome.wustl.edu	37	2	233415822	233415822	+	Intron	SNP	A	A	C			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr2:233415822A>C	ENST00000258416.3	+	1	693				EIF4E2_ENST00000409495.1_Intron|TIGD1_ENST00000408957.3_5'Flank|EIF4E2_ENST00000479834.1_3'UTR|EIF4E2_ENST00000409514.1_Intron|EIF4E2_ENST00000409167.3_Intron|EIF4E2_ENST00000409098.1_Intron|MIR5001_ENST00000580185.1_RNA|EIF4E2_ENST00000409394.1_Intron|EIF4E2_ENST00000409322.1_Intron	NM_004846.2	NP_004837.1	O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2						cytokine-mediated signaling pathway (GO:0019221)|in utero embryonic development (GO:0001701)|negative regulation of translation (GO:0017148)	cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		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;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTGCCTCTGAATCCAGCTTTC	0.617																																																	0																																										SO:0001627	intron_variant	0			AF038957	CCDS2496.1, CCDS63158.1, CCDS63159.1, CCDS74671.1	2q37.1	2008-02-05	2006-11-13	2004-10-30	ENSG00000135930	ENSG00000135930			3293	protein-coding gene	gene with protein product		605895	"""eukaryotic translation initiation factor 4E-like 3"""	EIF4EL3		9653160, 9582349	Standard	XM_005246975		Approved	IF4e, 4EHP	uc002vta.3	O60573	OTTHUMG00000133256	ENST00000258416.3:c.20+368A>C	2.37:g.233415822A>C			B8ZZJ9|O75349	RNA	SNP	-	NULL	ENST00000258416.3	37	NULL	CCDS2496.1	2																																																																																			EIF4E2	-	-	ENSG00000135930		0.617	EIF4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4E2	HGNC	protein_coding	OTTHUMT00000257033.2	-	0.00	17	0	A	NM_004846		233415822	+1	tier1	-	no_errors	ENST00000479834	ensembl	human	known	74_37	rna	21.21	26	7	SNP	0.000	C
EML5	161436	genome.wustl.edu	37	14	89082165	89082165	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr14:89082165G>T	ENST00000380664.5	-	42	5906	c.5907C>A	c.(5905-5907)caC>caA	p.H1969Q	EML5_ENST00000352093.5_Missense_Mutation_p.H1931Q|EML5_ENST00000554922.1_Missense_Mutation_p.H1977Q			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1969						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCATCTCTCAGTGAGGTGTAT	0.363																																																	0													106.0	93.0	97.0					14																	89082165		1854	4098	5952	SO:0001583	missense	0			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.5907C>A	14.37:g.89082165G>T	ENSP00000370039:p.His1969Gln		B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H1977Q	ENST00000380664.5	37	c.5931	CCDS45148.1	14	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303038	0.60195	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.50277	1.04;0.75;1.07	5.92	2.08	0.27032	.	0.000000	0.52532	D	0.000078	T	0.50854	0.1640	N	0.25647	0.755	0.39741	D	0.971744	P	0.50156	0.932	D	0.63703	0.917	T	0.50750	-0.8791	10	0.59425	D	0.04	.	11.4099	0.49919	0.3003:0.0:0.6997:0.0	.	1969	Q05BV3	EMAL5_HUMAN	Q	1977;1931;1969	ENSP00000451998:H1977Q;ENSP00000298315:H1931Q;ENSP00000370039:H1969Q	ENSP00000298315:H1931Q	H	-	3	2	EML5	88151918	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	1.736000	0.38187	0.126000	0.18424	0.650000	0.86243	CAC	EML5	-	NULL	ENSG00000165521		0.363	EML5-010	KNOWN	basic|CCDS	protein_coding	EML5	HGNC	protein_coding	OTTHUMT00000410491.1	-	0.00	52	0	G			89082165	-1	tier1	-	no_errors	ENST00000554922	ensembl	human	known	74_37	missense	23.08	40	12	SNP	1.000	T
Unknown	0	genome.wustl.edu	37	GL000212.1	65731	65731	+	IGR	SNP	C	C	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chrGL000212.1:65731C>T								None (None upstream) : None (None downstream)																							TGGGACGCCGCCCACGGCGTC	0.687																																																	0																																										SO:0001628	intergenic_variant	0																															GL000212.1.37:g.65731C>T				Missense_Mutation	SNP	NULL	p.P494S		37	c.1480		GL000212.1																																																																																			AL356585.1	-	NULL	ENSG00000212857	0	0.687					ENSG00000212857	Clone_based_ensembl_gene			-	0.00	56	0	C			65731	+1	tier1	-	no_errors	ENST00000391545	ensembl	human	known	74_37	missense	12.50	42	6	SNP	NULL	T
AP001482.1	0	genome.wustl.edu	37	11	88845967	88845970	+	RNA	DEL	ATAT	ATAT	-	rs10609035|rs376991850|rs7113863|rs371137229		TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	ATAT	ATAT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr11:88845967_88845970delATAT	ENST00000408203.1	+	0	90_93																											acatacatacatatatatatatat	0.225																																																	0																																												0																															11.37:g.88845975_88845978delATAT				RNA	DEL	-	NULL	ENST00000408203.1	37	NULL		11																																																																																			AP001482.1	-	-	ENSG00000221130		0.225	AP001482.1-201	NOVEL	basic	miRNA	ENSG00000221130	Clone_based_ensembl_gene	miRNA			0.00	11	0	ATAT			88845970	+1	tier1		no_errors	ENST00000408203	ensembl	human	novel	74_37	rna	36.36	7	4	DEL	0.024:0.026:0.027:0.034	-
RP6-206I17.1	0	genome.wustl.edu	37	1	143663875	143663875	+	lincRNA	SNP	G	G	T	rs373397451	byFrequency	TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr1:143663875G>T	ENST00000445753.1	-	0	531																											CCCCGACACAGACCTGAACCG	0.632													.|||	793	0.158347	0.4062	0.0504	5008	,	,		8835	0.12		0.0408	False		,,,				2504	0.0603																0																																												0																															1.37:g.143663875G>T				RNA	SNP	-	NULL	ENST00000445753.1	37	NULL		1																																																																																			RP6-206I17.1	-	-	ENSG00000223804		0.632	RP6-206I17.1-001	KNOWN	basic	lincRNA	ENSG00000223804	Clone_based_vega_gene	lincRNA	OTTHUMT00000037956.1		0.00	37	0	G			143663875	-1			no_errors	ENST00000445753	ensembl	human	known	74_37	rna	17.65	28	6	SNP	0.002	T
LOC100631378	100631378	genome.wustl.edu	37	19	38321901	38321901	+	lincRNA	SNP	G	G	A			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr19:38321901G>A	ENST00000443870.1	+	0	1711				AC016582.2_ENST00000592640.1_lincRNA																							TCTCTGGCCGGCTATGGATAC	0.502																																																	0																																												0																															19.37:g.38321901G>A				RNA	SNP	-	NULL	ENST00000443870.1	37	NULL		19																																																																																			CTD-2554C21.3	-	-	ENSG00000229481		0.502	CTD-2554C21.3-001	KNOWN	basic	lincRNA	ENSG00000229481	Clone_based_vega_gene	lincRNA	OTTHUMT00000459795.1	-	0.00	57	0	G			38321901	+1	tier1	-	no_errors	ENST00000443870	ensembl	human	known	74_37	rna	46.15	42	36	SNP	0.892	A
RP11-403I13.8	0	genome.wustl.edu	37	1	149287681	149287681	+	lincRNA	SNP	G	G	C	rs146390398		TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr1:149287681G>C	ENST00000433084.1	+	0	231				RP11-403I13.7_ENST00000424684.1_lincRNA|RNU1-143P_ENST00000516296.1_RNA																							TGCCCTTTGCGAGGCGGCAGC	0.692																																																	0																																												0																															1.37:g.149287681G>C				RNA	SNP	-	NULL	ENST00000433084.1	37	NULL		1																																																																																			RP11-403I13.8	-	-	ENSG00000235999		0.692	RP11-403I13.8-001	KNOWN	basic	lincRNA	ENSG00000235999	Clone_based_vega_gene	lincRNA	OTTHUMT00000099633.1	-	0.00	19	0	G			149287681	+1	tier1	rs146390398	no_errors	ENST00000433084	ensembl	human	known	74_37	rna	23.53	13	4	SNP	0.056	C
RP11-23E10.4	0	genome.wustl.edu	37	16	33365420	33365420	+	RNA	DEL	A	A	-			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr16:33365420delA	ENST00000568520.1	-	0	249																											TACAAACTATAAAAAAACAGA	0.358																																																	0																																												0																															16.37:g.33365420delA				RNA	DEL	-	NULL	ENST00000568520.1	37	NULL		16																																																																																			RP11-23E10.4	-	-	ENSG00000261405		0.358	RP11-23E10.4-002	KNOWN	basic	processed_transcript	ENSG00000261405	Clone_based_vega_gene	pseudogene	OTTHUMT00000432134.1		0.00	21	0	A			33365420	-1			no_errors	ENST00000568520	ensembl	human	known	74_37	rna	16.28	36	7	DEL	0.001	0
RP11-285M22.1	0	genome.wustl.edu	37	17	22191808	22191808	+	lincRNA	SNP	G	G	A			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr17:22191808G>A	ENST00000577879.1	+	0	0				RP11-285M22.3_ENST00000582507.1_lincRNA																							GTTTCGAAACGCCTCCTCCTC	0.552																																																	0																																												0																															17.37:g.22191808G>A				RNA	SNP	-	NULL	ENST00000577879.1	37	NULL		17																																																																																			RP11-285M22.3	-	-	ENSG00000264262		0.552	RP11-285M22.1-001	KNOWN	basic	lincRNA	ENSG00000264262	Clone_based_vega_gene	lincRNA	OTTHUMT00000444747.1	-	0.00	10	0	G			22191808	-1	tier1	-	no_errors	ENST00000582507	ensembl	human	known	74_37	rna	50.00	5	5	SNP	0.430	A
RP11-848P1.9	0	genome.wustl.edu	37	17	29343924	29343924	+	RNA	SNP	C	C	A			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr17:29343924C>A	ENST00000579692.1	+	0	307																		p.?(1)									ACTTCCTGATCCATTTGCTAA	0.343																																																	1	Unknown(1)	central_nervous_system(1)																																										0																															17.37:g.29343924C>A				RNA	SNP	-	NULL	ENST00000579692.1	37	NULL		17																																																																																			RP11-848P1.9	-	-	ENSG00000266865		0.343	RP11-848P1.9-003	KNOWN	basic	processed_transcript	ENSG00000266865	Clone_based_vega_gene	pseudogene	OTTHUMT00000445165.1	-	0.00	66	0	C			29343924	+1	tier1	-	no_errors	ENST00000582483	ensembl	human	known	74_37	rna	7.81	59	5	SNP	1.000	A
NOL7	51406	genome.wustl.edu	37	6	13621074	13621074	+	3'UTR	SNP	A	A	C			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr6:13621074A>C	ENST00000451315.2	+	0	821				RANBP9_ENST00000469916.1_5'Flank|AL441883.1_ENST00000600057.1_Silent_p.L16L|NOL7_ENST00000474485.1_3'UTR	NM_016167.3	NP_057251.2	Q9UMY1	NOL7_HUMAN	nucleolar protein 7, 27kDa							nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(3)|lung(1)	5	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.135)	Epithelial(50;0.176)			ATGCTAAATGAAGAATCTGTA	0.274																																																	0													29.0	29.0	29.0					6																	13621074		2202	4290	6492	SO:0001624	3_prime_UTR_variant	0			AF172066	CCDS4528.1	6p23	2008-05-23	2004-02-10		ENSG00000225921	ENSG00000225921			21040	protein-coding gene	gene with protein product		611533	"""chromosome 6 open reading frame 90"", ""polyglutamine binding protein 3"""	C6orf90, PQBP3		16205646	Standard	NM_016167		Approved	NOP27, RARG-1, dJ223E5.2	uc003naz.3	Q9UMY1	OTTHUMG00000014277	ENST00000451315.2:c.*15A>C	6.37:g.13621074A>C			Q5T297|Q9Y3U7	Silent	SNP	NULL	p.L16	ENST00000451315.2	37	c.48	CCDS4528.1	6																																																																																			AL441883.1	-	NULL	ENSG00000268059		0.274	NOL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000268059	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000039904.1	-	0.00	55	0	A	NM_016167		13621074	-1	tier1	-	no_errors	ENST00000600057	ensembl	human	novel	74_37	silent	7.02	53	4	SNP	0.669	C
NOL7	51406	genome.wustl.edu	37	6	13621119	13621119	+	3'UTR	SNP	C	C	G			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr6:13621119C>G	ENST00000451315.2	+	0	866				RANBP9_ENST00000469916.1_5'Flank|AL441883.1_ENST00000600057.1_Start_Codon_SNP_p.M1I|NOL7_ENST00000474485.1_Intron	NM_016167.3	NP_057251.2	Q9UMY1	NOL7_HUMAN	nucleolar protein 7, 27kDa							nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(3)|lung(1)	5	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.135)	Epithelial(50;0.176)			ATAAATCATTCATAGATCATT	0.313																																																	0													21.0	20.0	20.0					6																	13621119		690	1565	2255	SO:0001624	3_prime_UTR_variant	0			AF172066	CCDS4528.1	6p23	2008-05-23	2004-02-10		ENSG00000225921	ENSG00000225921			21040	protein-coding gene	gene with protein product		611533	"""chromosome 6 open reading frame 90"", ""polyglutamine binding protein 3"""	C6orf90, PQBP3		16205646	Standard	NM_016167		Approved	NOP27, RARG-1, dJ223E5.2	uc003naz.3	Q9UMY1	OTTHUMG00000014277	ENST00000451315.2:c.*60C>G	6.37:g.13621119C>G			Q5T297|Q9Y3U7	Missense_Mutation	SNP	NULL	p.M1I	ENST00000451315.2	37	c.3	CCDS4528.1	6																																																																																			AL441883.1	-	NULL	ENSG00000268059		0.313	NOL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000268059	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000039904.1	-	0.00	34	0	C	NM_016167		13621119	-1	tier1	-	no_errors	ENST00000600057	ensembl	human	novel	74_37	missense	17.65	28	6	SNP	0.000	G
ERVV-1	147664	genome.wustl.edu	37	19	53517914	53517914	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr19:53517914C>A	ENST00000602168.1	+	1	741	c.571C>A	c.(571-573)Cta>Ata	p.L191I	CTD-2620I22.3_ENST00000596769.1_lincRNA	NM_152473.2	NP_689686.2	B6SEH8	ERVV1_HUMAN	endogenous retrovirus group V, member 1	191						integral component of membrane (GO:0016021)											AGGAAAAGAGCTAATCACATG	0.507																																																	0																																										SO:0001583	missense	0			AK056776, BC104018, BC104019	CCDS59419.1	19q13.41	2014-05-02			ENSG00000269526	ENSG00000269526			26501	other	endogenous retrovirus						18826608, 21542922	Standard	NM_152473		Approved	FLJ32214, HERV-V1, ENVV1	uc002qap.3	B6SEH8	OTTHUMG00000182942	ENST00000602168.1:c.571C>A	19.37:g.53517914C>A	ENSP00000473153:p.Leu191Ile			Missense_Mutation	SNP	pfam_TLV/ENV_coat_polyprotein	p.L191I	ENST00000602168.1	37	c.571	CCDS59419.1	19																																																																																			ERVV-1	-	NULL	ENSG00000269526		0.507	ERVV-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERVV-1	HGNC	protein_coding	OTTHUMT00000464402.1	-	0.00	62	0	C	NM_152473		53517914	+1	tier1	-	no_errors	ENST00000602168	ensembl	human	known	74_37	missense	16.87	69	14	SNP	0.060	A
F8	2157	genome.wustl.edu	37	X	154158692	154158692	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chrX:154158692C>G	ENST00000360256.4	-	14	3573	c.3373G>C	c.(3373-3375)Gca>Cca	p.A1125P		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1125	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ATCCACCTTGCTGATTCTGGC	0.438																																																	0													64.0	63.0	64.0					X																	154158692		2203	4299	6502	SO:0001583	missense	0			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.3373G>C	X.37:g.154158692C>G	ENSP00000353393:p.Ala1125Pro		Q14286|Q5HY69	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.A1125P	ENST00000360256.4	37	c.3373	CCDS35457.1	X	.	.	.	.	.	.	.	.	.	.	c	1.341	-0.594119	0.03771	.	.	ENSG00000185010	ENST00000360256	D	0.99194	-5.54	5.37	2.42	0.29668	.	0.920401	0.09151	N	0.841579	D	0.95987	0.8693	L	0.31294	0.92	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	D	0.90557	0.4513	10	0.35671	T	0.21	-0.4631	3.0077	0.06034	0.1809:0.544:0.1717:0.1034	.	1125	P00451	FA8_HUMAN	P	1125	ENSP00000353393:A1125P	ENSP00000353393:A1125P	A	-	1	0	F8	153811886	0.001000	0.12720	0.045000	0.18777	0.048000	0.14542	-0.236000	0.09003	0.073000	0.16731	0.597000	0.82753	GCA	F8	-	NULL	ENSG00000185010		0.438	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4	-	0.00	24	0	C			154158692	-1	tier1	-	no_errors	ENST00000360256	ensembl	human	known	74_37	missense	65.22	8	15	SNP	0.003	G
FAH	2184	genome.wustl.edu	37	15	80473446	80473446	+	Frame_Shift_Del	DEL	G	G	-	rs573995081		TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr15:80473446delG	ENST00000407106.1	+	14	1280	c.1125delG	c.(1123-1125)ctgfs	p.L375fs	FAH_ENST00000539156.1_Frame_Shift_Del_p.L305fs|FAH_ENST00000261755.5_Frame_Shift_Del_p.L375fs|FAH_ENST00000561421.1_Frame_Shift_Del_p.L375fs			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	375					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	fumarylacetoacetase activity (GO:0004334)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCATAGACCTGGGGAATGGTC	0.522									Tyrosinemia, type 1																																								0													158.0	142.0	148.0					15																	80473446		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	M55150	CCDS10314.1	15q25.1	2012-08-30			ENSG00000103876	ENSG00000103876	3.7.1.2		3579	protein-coding gene	gene with protein product		613871				1998338, 2336361	Standard	NM_000137		Approved		uc002bfm.2	P16930	OTTHUMG00000144187	ENST00000407106.1:c.1125delG	15.37:g.80473446delG	ENSP00000385080:p.Leu375fs		B2R9X1|D3DW95|Q53XA7	Frame_Shift_Del	DEL	pfam_Fumarylacetoacetase_C,pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_C-rel,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase	p.N377fs	ENST00000407106.1	37	c.1125	CCDS10314.1	15																																																																																			FAH	-	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel,tigrfam_Fumarylacetoacetase	ENSG00000103876		0.522	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAH	HGNC	protein_coding	OTTHUMT00000291392.2		0.00	40	0	G			80473446	+1	tier1		no_errors	ENST00000261755	ensembl	human	known	74_37	frame_shift_del	6.45	29	2	DEL	1.000	-
FAM182B	728882	genome.wustl.edu	37	20	25755510	25755510	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr20:25755510C>T	ENST00000376403.1	-	3	824	c.446G>A	c.(445-447)cGc>cAc	p.R149H	FAM182B_ENST00000478164.1_Intron|FAM182B_ENST00000376404.2_Intron			Q5T319	F182B_HUMAN	family with sequence similarity 182, member B	149										lung(1)	1						CCTTCCATCGCGGCCACCATG	0.706																																																	0																																										SO:0001583	missense	0					20p11.1	2010-07-14			ENSG00000175170	ENSG00000175170			34503	pseudogene	pseudogene							Standard	NR_027061		Approved			Q5T319	OTTHUMG00000032136	ENST00000376403.1:c.446G>A	20.37:g.25755510C>T	ENSP00000365585:p.Arg149His		Q4G0Q1	Missense_Mutation	SNP	NULL	p.R149H	ENST00000376403.1	37	c.446		20	.	.	.	.	.	.	.	.	.	.	.	2.423	-0.332565	0.05314	.	.	ENSG00000175170	ENST00000376403	.	.	.	.	.	.	.	.	.	.	.	T	0.18425	0.0442	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.30822	-0.9965	3	0.15066	T	0.55	.	.	.	.	.	.	.	.	H	149	.	ENSP00000365585:R149H	R	-	2	0	FAM182B	25703510	0.001000	0.12720	0.047000	0.18901	0.048000	0.14542	-1.599000	0.02085	0.064000	0.16427	0.064000	0.15345	CGC	FAM182B	-	NULL	ENSG00000175170		0.706	FAM182B-003	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	FAM182B	HGNC	protein_coding	OTTHUMT00000078463.2		0.00	127	0	C	NR_026714		25755510	-1			no_errors	ENST00000376403	ensembl	human	putative	74_37	missense	6.06	93	6	SNP	0.048	T
FAM185A	222234	genome.wustl.edu	37	7	102427887	102427887	+	Missense_Mutation	SNP	T	T	C	rs374821683	byFrequency	TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr7:102427887T>C	ENST00000413034.2	+	7	1037	c.1037T>C	c.(1036-1038)gTt>gCt	p.V346A	FAM185A_ENST00000409231.3_Missense_Mutation_p.V229A	NM_001145268.1	NP_001138740	Q8N0U4	F185A_HUMAN	family with sequence similarity 185, member A	346										kidney(1)	1						ATGGCTGAAGTTCGTAAAGAT	0.403													C|||	36	0.0071885	0.0008	0.0029	5008	,	,		19144	0.004		0.0229	False		,,,				2504	0.0061																0													199.0	158.0	171.0					7																	102427887		692	1591	2283	SO:0001583	missense	0			BC029175	CCDS47676.1, CCDS47677.1	7q22.1	2009-07-09			ENSG00000222011	ENSG00000222011			22412	protein-coding gene	gene with protein product							Standard	NM_001145268		Approved	MGC35361	uc011klf.2	Q8N0U4	OTTHUMG00000154140	ENST00000413034.2:c.1037T>C	7.37:g.102427887T>C	ENSP00000395340:p.Val346Ala		A8MUR7|B4DQD3|C9IZ91	Missense_Mutation	SNP	NULL	p.V346A	ENST00000413034.2	37	c.1037	CCDS47676.1	7	.	.	.	.	.	.	.	.	.	.	C	8.043	0.764392	0.15914	.	.	ENSG00000222011	ENST00000432852;ENST00000409231;ENST00000413034	T;T	0.42513	0.97;0.99	4.09	-0.707	0.11245	.	.	.	.	.	T	0.14485	0.0350	N	0.04203	-0.255	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.0	T	0.28138	-1.0053	9	0.06757	T	0.87	1.6075	3.81	0.08793	0.2164:0.2939:0.0:0.4897	.	246;229;346	B4DMG7;Q8N0U4-3;Q8N0U4	.;.;F185A_HUMAN	A	246;229;346	ENSP00000387066:V229A;ENSP00000395340:V346A	ENSP00000387066:V229A	V	+	2	0	FAM185A	102215123	0.000000	0.05858	0.003000	0.11579	0.865000	0.49528	-1.536000	0.02208	-0.277000	0.09193	-0.260000	0.10688	GTT	FAM185A	-	NULL	ENSG00000222011		0.403	FAM185A-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM185A	HGNC	protein_coding	OTTHUMT00000349482.1		0.00	95	0	T	NM_001145268		102427887	+1			no_errors	ENST00000413034	ensembl	human	known	74_37	missense	9.62	94	10	SNP	0.004	C
FAR2	55711	genome.wustl.edu	37	12	29450109	29450110	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr12:29450109_29450110insA	ENST00000536681.3	+	4	767_768	c.521_522insA	c.(520-525)ccaaaafs	p.PK174fs	RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000182377.4_Frame_Shift_Ins_p.PK174fs|FAR2_ENST00000547116.1_Frame_Shift_Ins_p.PK77fs	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	174					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CCTGTGGAGCCAAAAAAAATCA	0.391																																																	0																																										SO:0001589	frameshift_variant	0			AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	25531	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 2"""		"""male sterility domain containing 1"""	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.529dupA	12.37:g.29450117_29450117dupA	ENSP00000443291:p.Pro174fs		F8VV73|Q9H0D5|Q9NVW8	Frame_Shift_Ins	INS	pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like	p.I177fs	ENST00000536681.3	37	c.521_522	CCDS8717.1	12																																																																																			FAR2	-	pfam_Male_sterile_NAD-bd,pfam_Epimerase_deHydtase	ENSG00000064763		0.391	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAR2	HGNC	protein_coding	OTTHUMT00000403479.2		0.00	12	0	-	NM_018099		29450110	+1	tier1		no_errors	ENST00000182377	ensembl	human	known	74_37	frame_shift_ins	9.09	20	2	INS	1.000:0.992	A
FAT1	2195	genome.wustl.edu	37	4	187628345	187628345	+	Silent	SNP	G	G	A	rs572738553		TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr4:187628345G>A	ENST00000441802.2	-	2	2846	c.2637C>T	c.(2635-2637)atC>atT	p.I879I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	879	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GAGGGCGTGCGATGTTAACAA	0.522										HNSCC(5;0.00058)			g|||	1	0.000199681	0.0	0.0	5008	,	,		20610	0.001		0.0	False		,,,				2504	0.0				Colon(197;1040 2055 4143 4984 49344)												0													118.0	114.0	115.0					4																	187628345		2047	4196	6243	SO:0001819	synonymous_variant	0			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.2637C>T	4.37:g.187628345G>A				Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.I879	ENST00000441802.2	37	c.2637	CCDS47177.1	4																																																																																			FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000083857		0.522	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3		0.00	13	0	G	NM_005245		187628345	-1			no_errors	ENST00000441802	ensembl	human	known	74_37	silent	52.94	8	9	SNP	0.000	A
FHIT	2272	genome.wustl.edu	37	3	59999860	59999860	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr3:59999860A>G	ENST00000468189.1	-	6	492	c.122T>C	c.(121-123)cTg>cCg	p.L41P	FHIT_ENST00000476844.1_Missense_Mutation_p.L41P|FHIT_ENST00000341848.4_Missense_Mutation_p.L41P|FHIT_ENST00000492590.1_Missense_Mutation_p.L41P|FHIT_ENST00000466788.1_Intron			P49789	FHIT_HUMAN	fragile histidine triad	41	HIT. {ECO:0000255|PROSITE- ProRule:PRU00464}.				DNA replication (GO:0006260)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide metabolic process (GO:0009117)|purine nucleotide metabolic process (GO:0006163)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|catalytic activity (GO:0003824)|hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		CACTGGCCGCAGCGGGCACAC	0.527			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3																															Dom	yes		3	3p14.2	2272	fragile histidine triad gene		E	0													74.0	74.0	74.0					3																	59999860		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database		BC032336	CCDS2894.1	3p14.2	2012-02-27	2012-02-27		ENSG00000189283	ENSG00000189283			3701	protein-coding gene	gene with protein product		601153	"""fragile histidine triad gene"""			8598045, 9671749	Standard	NM_002012		Approved	FRA3B, AP3Aase	uc003dky.3	P49789	OTTHUMG00000158591	ENST00000468189.1:c.122T>C	3.37:g.59999860A>G	ENSP00000417480:p.Leu41Pro		A2IAS9|A2IAT0|A2IAT6|A8K1A9|Q45QG9|Q6IU12	Missense_Mutation	SNP	pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_HIT-like	p.L41P	ENST00000468189.1	37	c.122	CCDS2894.1	3	.	.	.	.	.	.	.	.	.	.	A	15.57	2.872090	0.51695	.	.	ENSG00000189283	ENST00000492590;ENST00000476844;ENST00000468189;ENST00000341848;ENST00000488467	D;D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87;-2.87	5.96	5.96	0.96718	Histidine triad motif (1);Histidine triad-like motif (1);	0.146158	0.47093	D	0.000259	D	0.94364	0.8188	M	0.76170	2.325	0.80722	D	1	D	0.63046	0.992	D	0.63793	0.918	D	0.94149	0.7404	9	.	.	.	-11.3071	15.0195	0.71617	1.0:0.0:0.0:0.0	.	41	P49789	FHIT_HUMAN	P	41	ENSP00000418582:L41P;ENSP00000417557:L41P;ENSP00000417480:L41P;ENSP00000342087:L41P;ENSP00000418596:L41P	.	L	-	2	0	FHIT	59974900	1.000000	0.71417	0.985000	0.45067	0.025000	0.11179	7.730000	0.84881	2.285000	0.76669	0.533000	0.62120	CTG	FHIT	-	pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_HIT-like	ENSG00000189283		0.527	FHIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FHIT	HGNC	protein_coding	OTTHUMT00000351648.1	-	0.00	17	0	A	NM_002012		59999860	-1	tier1	-	no_errors	ENST00000341848	ensembl	human	known	74_37	missense	62.50	6	10	SNP	0.998	G
FOCAD	54914	genome.wustl.edu	37	9	20982419	20982419	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr9:20982419G>T	ENST00000380249.1	+	41	5066	c.4702G>T	c.(4702-4704)Gcc>Tcc	p.A1568S	FOCAD_ENST00000338382.6_Missense_Mutation_p.A1568S|FOCAD_ENST00000605086.1_Missense_Mutation_p.A1004S	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1568						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											AGATGATGATGCCAATCGGAT	0.343																																																	0													131.0	136.0	134.0					9																	20982419		2203	4300	6503	SO:0001583	missense	0			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.4702G>T	9.37:g.20982419G>T	ENSP00000369599:p.Ala1568Ser		D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold	p.A1568S	ENST00000380249.1	37	c.4702	CCDS34993.1	9	.	.	.	.	.	.	.	.	.	.	G	13.90	2.373859	0.42105	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.19806	2.12;2.12	5.83	3.75	0.43078	.	0.458832	0.24407	N	0.038781	T	0.16896	0.0406	L	0.36672	1.1	0.09310	N	1	B	0.31459	0.324	B	0.36418	0.224	T	0.16660	-1.0395	10	0.66056	D	0.02	-34.3225	5.2446	0.15490	0.1394:0.0:0.6511:0.2096	.	1568	Q5VW36	K1797_HUMAN	S	1568	ENSP00000369599:A1568S;ENSP00000344307:A1568S	ENSP00000344307:A1568S	A	+	1	0	KIAA1797	20972419	0.727000	0.28069	0.037000	0.18230	0.737000	0.42083	1.954000	0.40362	1.457000	0.47850	0.561000	0.74099	GCC	FOCAD	-	pfam_DUF3028	ENSG00000188352		0.343	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOCAD	HGNC	protein_coding	OTTHUMT00000143442.1		0.00	39	0	G	NM_017794		20982419	+1			no_errors	ENST00000338382	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.166	T
FUT6	2528	genome.wustl.edu	37	19	5831951	5831951	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr19:5831951G>C	ENST00000318336.4	-	3	1822	c.628C>G	c.(628-630)Cag>Gag	p.Q210E	FUT6_ENST00000524754.1_Missense_Mutation_p.Q210E|FUT6_ENST00000527106.1_Missense_Mutation_p.Q210E|FUT6_ENST00000286955.5_Missense_Mutation_p.Q210E|FUT6_ENST00000592563.1_Missense_Mutation_p.Q210E	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	210					fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						TGCAGGCTCTGGTAGTAGCGC	0.647																																																	0													93.0	87.0	89.0					19																	5831951		2203	4300	6503	SO:0001583	missense	0				CCDS12152.1	19p13.3	2013-02-26			ENSG00000156413	ENSG00000156413	2.4.1.65	"""Fucosyltransferases"""	4017	protein-coding gene	gene with protein product	"""alpha-(1,3)-fucosyltransferase"", ""galactoside 3-L-fucosyltransferase"""	136836				1520296, 7782074	Standard	NM_001040701		Approved	FT1A, FCT3A, FucT-VI, FLJ40754	uc002mdh.1	P51993	OTTHUMG00000167335	ENST00000318336.4:c.628C>G	19.37:g.5831951G>C	ENSP00000313398:p.Gln210Glu		A6NEX0|D6W637|Q9UND8	Missense_Mutation	SNP	pfam_Glyco_trans_10	p.Q210E	ENST00000318336.4	37	c.628	CCDS12152.1	19	.	.	.	.	.	.	.	.	.	.	G	2.698	-0.271624	0.05716	.	.	ENSG00000156413	ENST00000524754;ENST00000527106;ENST00000318336;ENST00000286955;ENST00000341530	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	2.99	-3.7	0.04437	.	1.096330	0.07121	N	0.843960	T	0.07773	0.0195	N	0.10837	0.055	0.09310	N	0.999999	B;B	0.12013	0.002;0.005	B;B	0.22152	0.017;0.038	T	0.38478	-0.9659	10	0.07482	T	0.82	.	2.9289	0.05793	0.1232:0.4685:0.246:0.1623	.	210;210	C9J8A2;P51993	.;FUT6_HUMAN	E	210	ENSP00000431708:Q210E;ENSP00000432954:Q210E;ENSP00000313398:Q210E;ENSP00000286955:Q210E	ENSP00000286955:Q210E	Q	-	1	0	FUT6	5782951	0.000000	0.05858	0.002000	0.10522	0.171000	0.22731	-1.308000	0.02730	-0.258000	0.09446	0.430000	0.28490	CAG	FUT6	-	pfam_Glyco_trans_10	ENSG00000156413		0.647	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT6	HGNC	protein_coding	OTTHUMT00000394218.2	-	0.00	75	0	G	NM_000150		5831951	-1	tier1	-	no_errors	ENST00000592563	ensembl	human	known	74_37	missense	26.32	42	15	SNP	0.374	C
GK2	2712	genome.wustl.edu	37	4	80327977	80327977	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr4:80327977C>A	ENST00000358842.3	-	1	1395	c.1378G>T	c.(1378-1380)Gcc>Tcc	p.A460S		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GCTGCCATGGCAGCTCCTAGT	0.473																																																	0													89.0	92.0	91.0					4																	80327977		2203	4300	6503	SO:0001583	missense	0			BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.1378G>T	4.37:g.80327977C>A	ENSP00000351706:p.Ala460Ser		Q7Z4Q4	Missense_Mutation	SNP	pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin	p.A460S	ENST00000358842.3	37	c.1378	CCDS3585.1	4	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277616	0.59758	.	.	ENSG00000196475	ENST00000358842	D	0.95853	-3.83	4.11	4.11	0.48088	Carbohydrate kinase, FGGY, C-terminal (1);	0.000000	0.85682	U	0.000000	D	0.98419	0.9474	H	0.97158	3.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98643	1.0676	10	0.62326	D	0.03	-22.7702	14.652	0.68805	0.0:1.0:0.0:0.0	.	460	Q14410	GLPK2_HUMAN	S	460	ENSP00000351706:A460S	ENSP00000351706:A460S	A	-	1	0	GK2	80547001	1.000000	0.71417	1.000000	0.80357	0.450000	0.32258	6.927000	0.75840	2.584000	0.87258	0.585000	0.79938	GCC	GK2	-	pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin	ENSG00000196475		0.473	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GK2	HGNC	protein_coding	OTTHUMT00000252517.2	-	0.00	72	0	C	NM_033214		80327977	-1	tier1	-	no_errors	ENST00000358842	ensembl	human	known	74_37	missense	18.06	59	13	SNP	1.000	A
GNAI2	2771	genome.wustl.edu	37	3	50296330	50296331	+	3'UTR	INS	-	-	A	rs76340684		TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr3:50296330_50296331insA	ENST00000313601.6	+	0	2007_2008				U73166.2_ENST00000439898.1_lincRNA|GNAI2_ENST00000536647.1_3'UTR|GNAI2_ENST00000422163.1_3'UTR|GNAI2_ENST00000266027.5_3'UTR|GNAI2_ENST00000491100.1_3'UTR	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2						activation of MAPKK activity (GO:0000186)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of synaptic transmission (GO:0050805)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|regulation of calcium ion transport (GO:0051924)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	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)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		GAAAGTAAAGGAAAAAAAAAAA	0.426																																																	0																																										SO:0001624	3_prime_UTR_variant	0			X04828	CCDS2813.1, CCDS54587.1, CCDS63642.1, CCDS63644.1	3p21.31	2010-08-27			ENSG00000114353	ENSG00000114353			4385	protein-coding gene	gene with protein product	"""GTP-binding regulatory protein Gi alpha-2 chain"""	139360		GNAI2B		3100330, 1733849	Standard	NM_001166425		Approved	GIP	uc003cyq.1	P04899	OTTHUMG00000156940	ENST00000313601.6:c.*556->A	3.37:g.50296341_50296341dupA			B3KTZ0|B4DYA0|B4E2X5|Q6B6N3|Q8IZ71	RNA	INS	-	NULL	ENST00000313601.6	37	NULL	CCDS2813.1	3																																																																																			GNAI2	-	-	ENSG00000114353		0.426	GNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAI2	HGNC	protein_coding	OTTHUMT00000346688.1		0.00	8	0	-	NM_002070		50296331	+1	tier1		no_errors	ENST00000491100	ensembl	human	known	74_37	rna	30.00	7	3	INS	0.000:0.081	A
GOLGA8DP	100132979	genome.wustl.edu	37	15	22709197	22709197	+	RNA	SNP	A	A	G			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr15:22709197A>G	ENST00000314246.8	-	0	1199				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											CTGCAGCTCCACCTCAGAGGG	0.532																																																	0																																												0					15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709197A>G				RNA	SNP	-	NULL	ENST00000314246.8	37	NULL		15	.	.	.	.	.	.	.	.	.	.	a	0.847	-0.739941	0.03088	.	.	ENSG00000185182	ENST00000341390;ENST00000314246;ENST00000317692	.	.	.	0.887	-1.77	0.07982	.	.	.	.	.	T	0.44159	0.1280	.	.	.	0.21184	N	0.999769	D	0.67145	0.996	D	0.76071	0.987	T	0.49986	-0.8880	6	0.09843	T	0.71	.	3.1895	0.06612	0.3837:0.0:0.3831:0.2331	.	101	F8WBT8	.	A	101;101;319	.	ENSP00000327024:V101A	V	-	2	0	AC116165.1	20260561	0.001000	0.12720	0.003000	0.11579	0.053000	0.15095	-0.607000	0.05648	-2.964000	0.00289	-1.767000	0.00664	GTG	GOLGA8DP	-	-	ENSG00000185182		0.532	GOLGA8DP-002	KNOWN	basic	processed_transcript	GOLGA8DP	HGNC	pseudogene	OTTHUMT00000415613.1		0.00	135	0	A	NR_027407		22709197	-1			no_errors	ENST00000314246	ensembl	human	known	74_37	rna	5.10	92	5	SNP	0.505	G
GPR144	347088	genome.wustl.edu	37	9	127220908	127220908	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr9:127220908C>T	ENST00000334810.1	+	10	1699	c.1699C>T	c.(1699-1701)Cag>Tag	p.Q567*				Q7Z7M1	GP144_HUMAN	G protein-coupled receptor 144	567					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)			central_nervous_system(1)|endometrium(3)	4						CCTAAGCACCCAGGTGGGGTC	0.612																																																	0													78.0	81.0	80.0					9																	127220908		692	1591	2283	SO:0001587	stop_gained	0			AY278562		9q34.11	2014-08-08			ENSG00000180264	ENSG00000180264		"""-"", ""GPCR / Class B : Orphans"""	18651	protein-coding gene	gene with protein product							Standard	XM_006710216		Approved	PGR24	uc010mwn.3	Q7Z7M1	OTTHUMG00000020652	ENST00000334810.1:c.1699C>T	9.37:g.127220908C>T	ENSP00000335156:p.Gln567*		Q86SL4|Q8NH12	Nonsense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_Pentaxin,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_C-type_lectin_fold,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_Pentaxin,prints_GPCR_2_secretin-like	p.Q567*	ENST00000334810.1	37	c.1699	CCDS48016.1	9	.	.	.	.	.	.	.	.	.	.	C	36	5.829997	0.96996	.	.	ENSG00000180264	ENST00000334810;ENST00000439837	.	.	.	5.08	3.04	0.35103	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	7.4272	0.27107	0.2777:0.4248:0.2975:0.0	.	.	.	.	X	567;298	.	ENSP00000335156:Q567X	Q	+	1	0	GPR144	126260729	0.000000	0.05858	0.836000	0.33094	0.701000	0.40568	-0.246000	0.08878	1.072000	0.40860	0.655000	0.94253	CAG	GPR144	-	NULL	ENSG00000180264		0.612	GPR144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR144	HGNC	protein_coding	OTTHUMT00000054026.2	-	0.00	47	0	C	NM_182611		127220908	+1	tier1	-	no_errors	ENST00000334810	ensembl	human	known	74_37	nonsense	53.12	15	17	SNP	0.643	T
GRPR	2925	genome.wustl.edu	37	X	16170440	16170440	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chrX:16170440G>T	ENST00000380289.2	+	3	1225	c.827G>T	c.(826-828)tGc>tTc	p.C276F	RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA|RP11-431J24.2_ENST00000422438.1_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	276					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TTCGCCTTCTGCTGGCTCCCC	0.542																																																	0													147.0	124.0	132.0					X																	16170440		2203	4300	6503	SO:0001583	missense	0				CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.827G>T	X.37:g.16170440G>T	ENSP00000369643:p.Cys276Phe		B2R910	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.C276F	ENST00000380289.2	37	c.827	CCDS14174.1	X	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311332	0.81358	.	.	ENSG00000126010	ENST00000380289;ENST00000535371	T	0.52295	0.67	5.47	5.47	0.80525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.78117	0.4233	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84930	0.0859	10	0.87932	D	0	-23.4744	17.2579	0.87062	0.0:0.0:1.0:0.0	.	276	P30550	GRPR_HUMAN	F	276;65	ENSP00000369643:C276F	ENSP00000369643:C276F	C	+	2	0	GRPR	16080361	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.476000	0.97823	2.287000	0.76781	0.600000	0.82982	TGC	GRPR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000126010		0.542	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRPR	HGNC	protein_coding	OTTHUMT00000055901.1	-	0.00	30	0	G	NM_005314		16170440	+1	tier1	-	no_errors	ENST00000380289	ensembl	human	known	74_37	missense	82.76	5	24	SNP	1.000	T
HELZ2	85441	genome.wustl.edu	37	20	62202938	62202938	+	Intron	SNP	G	G	A	rs112233288		TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr20:62202938G>A	ENST00000467148.1	-	1	348				HELZ2_ENST00000479540.1_5'UTR	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator						cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GCTCCTGGGAGCCTCTGGCTC	0.682																																																	0																																										SO:0001627	intron_variant	0			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.278+522C>T	20.37:g.62202938G>A			Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	RNA	SNP	-	NULL	ENST00000467148.1	37	NULL	CCDS33508.1	20																																																																																			HELZ2	-	-	ENSG00000130589		0.682	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	-	0.00	26	0	G	NM_001037335		62202938	-1	tier1	rs112233288	no_errors	ENST00000479540	ensembl	human	known	74_37	rna	16.33	41	8	SNP	0.373	A
HGF	3082	genome.wustl.edu	37	7	81331929	81331929	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr7:81331929delT	ENST00000222390.5	-	18	2381	c.2155delA	c.(2155-2157)attfs	p.I720fs	HGF_ENST00000457544.2_Frame_Shift_Del_p.I715fs	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	720	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GTTAAAATAATTTTGTGTATC	0.383																																																	0													128.0	124.0	126.0					7																	81331929		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.2155delA	7.37:g.81331929delT	ENSP00000222390:p.Ile720fs		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Frame_Shift_Del	DEL	pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.I719fs	ENST00000222390.5	37	c.2155	CCDS5597.1	7																																																																																			HGF	-	superfamily_Trypsin-like_Pept_dom,pfscan_Peptidase_S1	ENSG00000019991		0.383	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGF	HGNC	protein_coding	OTTHUMT00000253315.2		0.00	43	0	T	NM_000601		81331929	-1	tier1		no_errors	ENST00000222390	ensembl	human	known	74_37	frame_shift_del	37.74	33	20	DEL	1.000	-
IL20RB	53833	genome.wustl.edu	37	3	136699396	136699396	+	Silent	SNP	G	G	A			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr3:136699396G>A	ENST00000329582.4	+	2	426	c.177G>A	c.(175-177)gcG>gcA	p.A59A	IL20RB-AS1_ENST00000462176.2_RNA|IL20RB_ENST00000309741.5_Silent_p.A12A|IL20RB_ENST00000484501.1_Intron	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	59	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homeostasis of number of cells within a tissue (GO:0048873)|immune response-inhibiting signal transduction (GO:0002765)|inflammatory response to antigenic stimulus (GO:0002437)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of type IV hypersensitivity (GO:0001808)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-4 production (GO:0032753)	integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						CAGTGATCGCGCCTGGAGAAA	0.473																																																	0													205.0	196.0	199.0					3																	136699396		2203	4300	6503	SO:0001819	synonymous_variant	0			BC033292	CCDS3093.1	3q22.3	2013-02-11			ENSG00000174564	ENSG00000174564		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	6004	protein-coding gene	gene with protein product		605621	"""fibronectin type III domain containing 6"""	FNDC6		11163236, 16703417	Standard	NM_144717		Approved	DIRS1, IL-20R2, MGC34923	uc003eri.2	Q6UXL0	OTTHUMG00000159779	ENST00000329582.4:c.177G>A	3.37:g.136699396G>A			B4DL40|Q6P438|Q8IYY5|Q8TAJ7	Silent	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.A59	ENST00000329582.4	37	c.177	CCDS3093.1	3																																																																																			IL20RB	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000174564		0.473	IL20RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL20RB	HGNC	protein_coding	OTTHUMT00000357277.2	-	0.00	81	0	G	NM_144717		136699396	+1	tier1	-	no_errors	ENST00000329582	ensembl	human	known	74_37	silent	31.11	62	28	SNP	0.000	A
NRIP2	83714	genome.wustl.edu	37	12	2939789	2939789	+	Intron	SNP	C	C	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr12:2939789C>T	ENST00000337508.4	-	2	536					NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CTCCCTCTCCCATCAGGGCAG	0.582																																																	0																																										SO:0001627	intron_variant	0			AK054740	CCDS8514.1	12p13.33	2008-02-05			ENSG00000053702	ENSG00000053702			23078	protein-coding gene	gene with protein product						11230166	Standard	NM_031474		Approved	DKFZP761G1913	uc001qlc.3	Q9BQI9	OTTHUMG00000130616	ENST00000337508.4:c.495+84G>A	12.37:g.2939789C>T			A2RRE3|B4DV61	RNA	SNP	-	NULL	ENST00000337508.4	37	NULL	CCDS8514.1	12																																																																																			ITFG2	-	-	ENSG00000111203		0.582	NRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITFG2	HGNC	protein_coding	OTTHUMT00000253090.4	-	0.00	46	0	C	NM_031474		2939789	+1	tier1	-	no_errors	ENST00000552005	ensembl	human	known	74_37	rna	28.30	38	15	SNP	0.000	T
ITPRIP	85450	genome.wustl.edu	37	10	106075576	106075576	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr10:106075576C>A	ENST00000337478.1	-	2	405	c.234G>T	c.(232-234)caG>caT	p.Q78H	RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000358187.2_Missense_Mutation_p.Q78H|ITPRIP_ENST00000278071.2_Missense_Mutation_p.Q78H	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	78						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TCTCGTTCTGCTGCCTGCCCT	0.662																																																	0													83.0	77.0	79.0					10																	106075576		2203	4300	6503	SO:0001583	missense	0			AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"""KIAA1754"", ""inositol 1,4,5-triphosphate receptor interacting protein"""	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.234G>T	10.37:g.106075576C>A	ENSP00000337178:p.Gln78His		D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Missense_Mutation	SNP	NULL	p.Q78H	ENST00000337478.1	37	c.234	CCDS7557.1	10	.	.	.	.	.	.	.	.	.	.	C	5.430	0.264539	0.10294	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187;ENST00000458723	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	5.56	4.62	0.57501	.	0.582493	0.16275	N	0.221615	T	0.04861	0.0131	N	0.08118	0	0.09310	N	0.999993	B	0.06786	0.001	B	0.08055	0.003	T	0.21793	-1.0235	10	0.45353	T	0.12	-0.705	2.9593	0.05887	0.2906:0.4604:0.142:0.107	.	78	Q8IWB1	IPRI_HUMAN	H	78	ENSP00000337178:Q78H;ENSP00000278071:Q78H;ENSP00000350915:Q78H;ENSP00000414141:Q78H	ENSP00000278071:Q78H	Q	-	3	2	ITPRIP	106065566	0.144000	0.22641	0.991000	0.47740	0.369000	0.29798	0.091000	0.15046	2.611000	0.88343	0.563000	0.77884	CAG	ITPRIP	-	NULL	ENSG00000148841		0.662	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPRIP	HGNC	protein_coding	OTTHUMT00000050204.1	-	0.00	55	0	C	NM_033397		106075576	-1	tier1	-	no_errors	ENST00000278071	ensembl	human	known	74_37	missense	9.78	83	9	SNP	0.383	A
KIAA0430	9665	genome.wustl.edu	37	16	15716946	15716946	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr16:15716946G>T	ENST00000396368.3	-	11	2511	c.2305C>A	c.(2305-2307)Ccg>Acg	p.P769T	KIAA0430_ENST00000602337.1_Missense_Mutation_p.P766T|KIAA0430_ENST00000551742.1_Missense_Mutation_p.P769T|KIAA0430_ENST00000540441.2_Intron|KIAA0430_ENST00000548025.1_Missense_Mutation_p.P766T|KIAA0430_ENST00000344181.3_Missense_Mutation_p.P438T	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	769					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.P769S(1)		breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AAAGCAAGCGGGGATGCTCTG	0.383																																																	1	Substitution - Missense(1)	lung(1)											87.0	84.0	85.0					16																	15716946		1859	4104	5963	SO:0001583	missense	0			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.2305C>A	16.37:g.15716946G>T	ENSP00000379654:p.Pro769Thr		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.P769T	ENST00000396368.3	37	c.2305	CCDS10562.2	16	.	.	.	.	.	.	.	.	.	.	G	25.7	4.666392	0.88251	.	.	ENSG00000166783	ENST00000396368;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.78672	0.4320	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.78804	-0.2060	9	0.62326	D	0.03	.	19.838	0.96666	0.0:0.0:1.0:0.0	.	768;766;765	Q9Y4F3-5;F8VV09;Q9Y4F3-4	.;.;.	T	769;768;438;766;769;616	.	ENSP00000315718:P768T	P	-	1	0	KIAA0430	15624447	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	8.652000	0.91083	2.692000	0.91855	0.650000	0.86243	CCG	KIAA0430	-	NULL	ENSG00000166783		0.383	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	HGNC	protein_coding	OTTHUMT00000252131.2		0.00	25	0	G	NM_014647		15716946	-1			no_errors	ENST00000396368	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	T
KIAA1731	85459	genome.wustl.edu	37	11	93432873	93432873	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr11:93432873C>A	ENST00000325212.6	+	15	4957	c.4795C>A	c.(4795-4797)Cag>Aag	p.Q1599K	KIAA1731_ENST00000344196.4_5'UTR|KIAA1731_ENST00000411936.1_Missense_Mutation_p.Q1599K|KIAA1731_ENST00000531700.1_Intron			Q9C0D2	K1731_HUMAN	KIAA1731	1599						centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TATTCTGCCTCAGCAAGATAA	0.378																																																	0													34.0	28.0	30.0					11																	93432873		692	1591	2283	SO:0001583	missense	0			AB051518	CCDS44708.1	11q21	2014-03-11			ENSG00000166004	ENSG00000166004			29366	protein-coding gene	gene with protein product						20844083	Standard	NM_033395		Approved		uc009ywb.1	Q9C0D2	OTTHUMG00000167449	ENST00000325212.6:c.4795C>A	11.37:g.93432873C>A	ENSP00000316681:p.Gln1599Lys		C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8	Missense_Mutation	SNP	NULL	p.Q1599K	ENST00000325212.6	37	c.4795	CCDS44708.1	11	.	.	.	.	.	.	.	.	.	.	C	10.35	1.327283	0.24080	.	.	ENSG00000166004	ENST00000325212;ENST00000411936	T;T	0.27104	1.69;1.69	4.71	3.73	0.42828	.	0.478150	0.17830	N	0.160575	T	0.21921	0.0528	L	0.52011	1.625	0.25115	N	0.99069	P	0.38677	0.642	B	0.35278	0.199	T	0.11690	-1.0577	10	0.41790	T	0.15	0.161	10.2943	0.43613	0.0:0.7998:0.2002:0.0	.	1599	Q9C0D2	K1731_HUMAN	K	1599	ENSP00000316681:Q1599K;ENSP00000406505:Q1599K	ENSP00000316681:Q1599K	Q	+	1	0	KIAA1731	93072521	0.319000	0.24607	0.306000	0.25113	0.591000	0.36615	1.021000	0.30040	2.589000	0.87451	0.467000	0.42956	CAG	KIAA1731	-	NULL	ENSG00000166004		0.378	KIAA1731-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1731	HGNC	protein_coding	OTTHUMT00000394640.1		0.00	20	0	C	NM_033395		93432873	+1			no_errors	ENST00000411936	ensembl	human	known	74_37	missense	10.00	27	3	SNP	0.101	A
KIF26A	26153	genome.wustl.edu	37	14	104642925	104642925	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr14:104642925delC	ENST00000423312.2	+	12	3800	c.3800delC	c.(3799-3801)tccfs	p.S1267fs	KIF26A_ENST00000315264.7_Frame_Shift_Del_p.S1128fs	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1267					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		ACACTTGGCTCCCCCCGGCTG	0.697																																																	0													21.0	27.0	25.0					14																	104642925		1952	4101	6053	SO:0001589	frameshift_variant	0			AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.3800delC	14.37:g.104642925delC	ENSP00000388241:p.Ser1267fs		Q8TAZ7|Q96GK3|Q9UFL3	Frame_Shift_Del	DEL	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.R1269fs	ENST00000423312.2	37	c.3800	CCDS45171.1	14																																																																																			KIF26A	-	NULL	ENSG00000066735		0.697	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIF26A	HGNC	protein_coding	OTTHUMT00000414356.1		0.00	9	0	C			104642925	+1			no_errors	ENST00000423312	ensembl	human	known	74_37	frame_shift_del	33.33	4	2	DEL	0.000	0
KREMEN1	83999	genome.wustl.edu	37	22	29533461	29533461	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr22:29533461C>T	ENST00000407188.1	+	6	757	c.757C>T	c.(757-759)Cac>Tac	p.H253Y	KREMEN1_ENST00000327813.5_Missense_Mutation_p.H255Y|KREMEN1_ENST00000400338.2_Missense_Mutation_p.H255Y|KREMEN1_ENST00000400335.4_Missense_Mutation_p.H255Y			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	253	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell communication (GO:0007154)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						CTCCCACATCCACTTCAGCTT	0.612																																																	0													70.0	71.0	71.0					22																	29533461		1936	4113	6049	SO:0001583	missense	0			AB059618	CCDS43000.1, CCDS13849.1, CCDS43000.2	22q12.1	2008-03-27	2002-11-13	2002-11-15	ENSG00000183762	ENSG00000183762			17550	protein-coding gene	gene with protein product		609898	"""kringle containing transmembrane protein"""	KREMEN		11267660	Standard	NM_001039570		Approved	KRM1	uc011akm.1	Q96MU8	OTTHUMG00000030987	ENST00000407188.1:c.757C>T	22.37:g.29533461C>T	ENSP00000385431:p.His253Tyr		B0QY46|B0QY47|B1AJR5|Q5TIB9|Q6P3X6|Q9BY70|Q9UGS5|Q9UGU1	Missense_Mutation	SNP	pirsf_Kremen,pfam_Kringle,pfam_WSC_carb-bd,pfam_CUB_dom,superfamily_Kringle-like,superfamily_CUB_dom,superfamily_Scorpion_toxin-like,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB_dom,pfscan_CUB_dom,pfscan_Kringle,pfscan_WSC_carb-bd	p.H255Y	ENST00000407188.1	37	c.763	CCDS43000.2	22	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686158	0.68157	.	.	ENSG00000183762	ENST00000400335;ENST00000400338;ENST00000327813;ENST00000407188	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	4.99	4.99	0.66335	CUB (5);	0.402290	0.23112	N	0.051789	T	0.16171	0.0389	L	0.60455	1.87	0.39741	D	0.971745	P;P;B	0.41265	0.662;0.744;0.255	B;B;B	0.35859	0.212;0.093;0.06	T	0.06789	-1.0807	10	0.07175	T	0.84	.	16.1434	0.81544	0.0:1.0:0.0:0.0	.	253;255;255	Q96MU8;Q96MU8-2;Q96MU8-3	KREM1_HUMAN;.;.	Y	255;255;255;253	ENSP00000383189:H255Y;ENSP00000383192:H255Y;ENSP00000331242:H255Y;ENSP00000385431:H253Y	ENSP00000331242:H255Y	H	+	1	0	KREMEN1	27863461	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.561000	0.60809	2.510000	0.84645	0.591000	0.81541	CAC	KREMEN1	-	pirsf_Kremen,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000183762		0.612	KREMEN1-004	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	KREMEN1	HGNC	protein_coding	OTTHUMT00000320947.1	-	0.00	30	0	C			29533461	+1	tier1	-	no_errors	ENST00000327813	ensembl	human	known	74_37	missense	25.00	21	7	SNP	1.000	T
LINC01119	100134259	genome.wustl.edu	37	2	47083042	47083042	+	Intron	DEL	A	A	-	rs376931136|rs3768718|rs371493067|rs200683836	byFrequency	TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr2:47083042delA	ENST00000422294.1	+	2	216				AC016722.3_ENST00000453936.1_RNA|AC016722.2_ENST00000468141.1_Intron																							gtatatatatatattttttta	0.438													|||unknown(STR2?)	1280	0.255591	0.3268	0.2536	5008	,	,		9690	0.1369		0.2594	False		,,,				2504	0.2791																0																																										SO:0001627	intron_variant	0																														ENST00000422294.1:c.89-20A>-	2.37:g.47083042delA				RNA	DEL	-	NULL	ENST00000422294.1	37	NULL		2																																																																																			AC016722.2	-	-	ENSG00000239332		0.438	AC016722.2-004	PUTATIVE	mRNA_end_NF|cds_end_NF|basic|appris_principal	protein_coding	LOC100134259	Clone_based_vega_gene	protein_coding	OTTHUMT00000329426.1		0.00	8	0	A			47083042	+1	tier1		no_errors	ENST00000495449	ensembl	human	known	74_37	rna	63.64	4	7	DEL	0.001	-
LPHN1	22859	genome.wustl.edu	37	19	14274196	14274196	+	Silent	SNP	C	C	A			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr19:14274196C>A	ENST00000340736.6	-	6	729	c.432G>T	c.(430-432)ctG>ctT	p.L144L	CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000591528.1_5'UTR|LPHN1_ENST00000361434.3_Silent_p.L139L|CTB-55O6.12_ENST00000592086.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	144	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCACCTTCTGCAGGGTCCCTG	0.647																																																	0													16.0	14.0	14.0					19																	14274196		2198	4294	6492	SO:0001819	synonymous_variant	0			AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.432G>T	19.37:g.14274196C>A			Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.L144	ENST00000340736.6	37	c.432	CCDS32928.1	19																																																																																			LPHN1	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	ENSG00000072071		0.647	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	LPHN1	HGNC	protein_coding	OTTHUMT00000459696.1		0.00	37	0	C	NM_014921		14274196	-1			no_errors	ENST00000340736	ensembl	human	known	74_37	silent	7.69	36	3	SNP	0.999	A
LRP3	4037	genome.wustl.edu	37	19	33697172	33697172	+	Missense_Mutation	SNP	C	C	T	rs149990905		TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr19:33697172C>T	ENST00000253193.7	+	5	1698	c.1496C>T	c.(1495-1497)aCg>aTg	p.T499M	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	499					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					AAGGTCATCACGGCGGCGCTC	0.657																																																	0								C	MET/THR	0,4400		0,0,2200	23.0	23.0	23.0		1496	5.2	0.9	19	dbSNP_134	23	1,8585		0,1,4292	no	missense	LRP3	NM_002333.3	81	0,1,6492	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	499/771	33697172	1,12985	2200	4293	6493	SO:0001583	missense	0			AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.1496C>T	19.37:g.33697172C>T	ENSP00000253193:p.Thr499Met		B3KQD6|B4DKF2	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.T499M	ENST00000253193.7	37	c.1496	CCDS12430.1	19	.	.	.	.	.	.	.	.	.	.	C	19.99	3.928590	0.73327	0.0	1.16E-4	ENSG00000130881	ENST00000253193	D	0.88975	-2.45	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.92675	0.7672	L	0.52011	1.625	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	P;D	0.71656	0.877;0.974	D	0.93343	0.6711	10	0.72032	D	0.01	-39.0053	17.7181	0.88343	0.0:1.0:0.0:0.0	.	499;417	O75074;B7ZAJ9	LRP3_HUMAN;.	M	499	ENSP00000253193:T499M	ENSP00000253193:T499M	T	+	2	0	LRP3	38389012	1.000000	0.71417	0.944000	0.38274	0.396000	0.30629	6.044000	0.71012	2.437000	0.82529	0.491000	0.48974	ACG	LRP3	-	NULL	ENSG00000130881		0.657	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP3	HGNC	protein_coding	OTTHUMT00000450842.4	-	0.00	66	0	C			33697172	+1	tier1	rs149990905	no_errors	ENST00000253193	ensembl	human	known	74_37	missense	27.27	48	18	SNP	1.000	T
LRRTM4	80059	genome.wustl.edu	37	2	77746305	77746305	+	Silent	SNP	G	G	A			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr2:77746305G>A	ENST00000409093.1	-	3	1026	c.690C>T	c.(688-690)aaC>aaT	p.N230N	LRRTM4_ENST00000409282.1_Silent_p.N231N|LRRTM4_ENST00000409088.3_Silent_p.N230N|LRRTM4_ENST00000409884.1_Silent_p.N230N|LRRTM4_ENST00000409911.1_Silent_p.N231N			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	230					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TTGAGCGGAGGTTGAAGAGAC	0.448																																																	0													62.0	60.0	61.0					2																	77746305		1883	4103	5986	SO:0001819	synonymous_variant	0			AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.690C>T	2.37:g.77746305G>A			Q4FZ98|Q6UXJ7	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.N231	ENST00000409093.1	37	c.693	CCDS46346.1	2																																																																																			LRRTM4	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000176204		0.448	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRRTM4	HGNC	protein_coding	OTTHUMT00000328225.1	-	0.00	54	0	G	NM_024993		77746305	-1	tier1	-	no_errors	ENST00000409911	ensembl	human	known	74_37	silent	20.00	52	13	SNP	1.000	A
LYPD1	116372	genome.wustl.edu	37	2	133426048	133426048	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr2:133426048delA	ENST00000397463.2	-	2	387	c.115delT	c.(115-117)tccfs	p.S39fs	AC010974.3_ENST00000450509.1_RNA|LYPD1_ENST00000345008.6_5'UTR	NM_144586.5	NP_653187.3	Q8N2G4	LYPD1_HUMAN	LY6/PLAUR domain containing 1	39	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				lung(2)	2						AACTCGGGGGAGGAGCAGTCG	0.557																																																	0													80.0	87.0	85.0					2																	133426048		1987	4168	6155	SO:0001589	frameshift_variant	0			AK075487	CCDS42759.1, CCDS46416.1	2q21.2	2008-02-05		2005-08-30	ENSG00000150551	ENSG00000150551			28431	protein-coding gene	gene with protein product		610450		LYPDC1		12477932	Standard	NM_144586		Approved	MGC29643	uc002ttn.3	Q8N2G4	OTTHUMG00000153609	ENST00000397463.2:c.115delT	2.37:g.133426048delA	ENSP00000380605:p.Ser39fs		H7BXW6|Q6ZP52|Q6ZWI4|Q96AC2	Frame_Shift_Del	DEL	NULL	p.S39fs	ENST00000397463.2	37	c.115	CCDS42759.1	2																																																																																			LYPD1	-	NULL	ENSG00000150551		0.557	LYPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPD1	HGNC	protein_coding	OTTHUMT00000331821.1		0.00	43	0	A	NM_144586		133426048	-1	tier1		no_errors	ENST00000397463	ensembl	human	known	74_37	frame_shift_del	6.25	30	2	DEL	1.000	-
MAML3	55534	genome.wustl.edu	37	4	140810639	140810641	+	In_Frame_Del	DEL	GCT	GCT	-	rs372496848		TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	GCT	GCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr4:140810639_140810641delGCT	ENST00000509479.2	-	2	2805_2807	c.1949_1951delAGC	c.(1948-1953)cagccg>ccg	p.Q650del	MAML3_ENST00000327122.5_In_Frame_Del_p.Q494del|MAML3_ENST00000398940.1_In_Frame_Del_p.Q178del	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGAGGTGGCGgctgctgctgctg	0.586																																																	0																																										SO:0001651	inframe_deletion	0			AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1949_1951delAGC	4.37:g.140810648_140810650delGCT	ENSP00000421180:p.Gln650del			In_Frame_Del	DEL	pfam_Neuroggenic_mastermind-like_N	p.Q650in_frame_del	ENST00000509479.2	37	c.1951_1949	CCDS54805.1	4																																																																																			MAML3	-	NULL	ENSG00000196782		0.586	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML3	HGNC	protein_coding	OTTHUMT00000364934.2		0.00	88	0	GCT			140810641	-1	tier1		no_errors	ENST00000509479	ensembl	human	known	74_37	in_frame_del	16.24	98	19	DEL	0.196:0.001:0.000	-
MEGF8	1954	genome.wustl.edu	37	19	42841022	42841022	+	Silent	SNP	G	G	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr19:42841022G>T	ENST00000251268.6	+	7	1308	c.1308G>T	c.(1306-1308)ctG>ctT	p.L436L	MEGF8_ENST00000334370.4_Silent_p.L436L	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	436					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGACGACGCTGAAGGGGCGGG	0.602																																																	0													94.0	82.0	86.0					19																	42841022		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.1308G>T	19.37:g.42841022G>T			A8KAY0|O75097	Silent	SNP	pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin	p.L436	ENST00000251268.6	37	c.1308		19																																																																																			MEGF8	-	NULL	ENSG00000105429		0.602	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1	-	0.00	92	0	G	NM_001410		42841022	+1	tier1	-	no_errors	ENST00000251268	ensembl	human	known	74_37	silent	13.46	90	14	SNP	0.935	T
MICAL1	64780	genome.wustl.edu	37	6	109766171	109766171	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr6:109766171C>T	ENST00000358807.3	-	23	3220	c.2909G>A	c.(2908-2910)tGg>tAg	p.W970*	MICAL1_ENST00000368952.4_Nonsense_Mutation_p.W989*|MICAL1_ENST00000358577.3_Nonsense_Mutation_p.W884*	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	970					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		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;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CTGTCCTACCCATAGTTTCTT	0.547																																																	0													126.0	126.0	126.0					6																	109766171		2203	4300	6503	SO:0001587	stop_gained	0			AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2909G>A	6.37:g.109766171C>T	ENSP00000351664:p.Trp970*		B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Nonsense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.W989*	ENST00000358807.3	37	c.2966	CCDS5076.1	6	.	.	.	.	.	.	.	.	.	.	C	42	9.229883	0.99108	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957;ENST00000335266	.	.	.	5.85	4.97	0.65823	.	0.293054	0.33732	N	0.004606	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	12.9951	0.58642	0.0:0.8381:0.1619:0.0	.	.	.	.	X	970;989;884;494;226	.	ENSP00000335372:W226X	W	-	2	0	MICAL1	109872864	0.993000	0.37304	0.451000	0.26982	0.895000	0.52256	1.542000	0.36137	1.458000	0.47871	-0.176000	0.13171	TGG	MICAL1	-	pfam_DUF3585	ENSG00000135596		0.547	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL1	HGNC	protein_coding	OTTHUMT00000041759.2	-	0.00	26	0	C	NM_022765		109766171	-1	tier1	-	no_errors	ENST00000368952	ensembl	human	known	74_37	nonsense	47.62	11	10	SNP	0.987	T
MIXL1	83881	genome.wustl.edu	37	1	226413489	226413489	+	Silent	SNP	C	C	A			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr1:226413489C>A	ENST00000366810.5	+	2	739	c.675C>A	c.(673-675)atC>atA	p.I225I	MIXL1_ENST00000557734.1_3'UTR|MIXL1_ENST00000542034.1_Silent_p.I233I			Q9H2W2	MIXL1_HUMAN	Mix paired-like homeobox	225					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)		AGGAACACATCTTTTCTGCCT	0.488																																					Pancreas(72;1302 1881 20981 22800)												0													143.0	139.0	141.0					1																	226413489		2203	4300	6503	SO:0001819	synonymous_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.675C>A	1.37:g.226413489C>A			B7ZLF9	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.I225	ENST00000366810.5	37	c.675	CCDS1552.1	1																																																																																			MIXL1	-	NULL	ENSG00000185155		0.488	MIXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIXL1	HGNC	protein_coding	OTTHUMT00000091526.3	-	0.00	46	0	C			226413489	+1	tier1	-	no_errors	ENST00000366810	ensembl	human	known	74_37	silent	16.67	55	11	SNP	1.000	A
MROH2A	339766	genome.wustl.edu	37	2	234731561	234731561	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr2:234731561A>G	ENST00000389758.3	+	34	4067	c.3901A>G	c.(3901-3903)Aga>Gga	p.R1301G				A6NES4	MRO2A_HUMAN	maestro heat-like repeat family member 2A	1331																	CTTGTTCAAGAGAGTCAAGAG	0.627																																																	0																																										SO:0001583	missense	0				CCDS74674.1	2q37.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000185038	ENSG00000185038		"""maestro heat-like repeat containing"""	27936	protein-coding gene	gene with protein product			"""HEAT repeat containing 7B1"""	HEATR7B1		12477932	Standard	NM_001287395		Approved			A6NES4	OTTHUMG00000059037	ENST00000389758.3:c.3901A>G	2.37:g.234731561A>G	ENSP00000374408:p.Arg1301Gly			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R1301G	ENST00000389758.3	37	c.3901		2	.	.	.	.	.	.	.	.	.	.	A	13.35	2.210337	0.39003	.	.	ENSG00000185038	ENST00000389758	T	0.01422	4.91	4.58	3.42	0.39159	.	0.918469	0.09004	N	0.862515	T	0.03263	0.0095	M	0.65975	2.015	0.09310	N	1	.	.	.	.	.	.	T	0.41980	-0.9478	8	0.25106	T	0.35	.	7.6025	0.28083	0.762:0.238:0.0:0.0	.	.	.	.	G	1301	ENSP00000374408:R1301G	ENSP00000374408:R1301G	R	+	1	2	HEATR7B1	234396300	0.396000	0.25262	0.067000	0.19924	0.515000	0.34225	2.530000	0.45641	1.912000	0.55364	0.460000	0.39030	AGA	MROH2A	-	superfamily_ARM-type_fold	ENSG00000185038		0.627	MROH2A-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	MROH2A	HGNC	protein_coding	OTTHUMT00000130646.6	-	0.00	38	0	A	XM_291007		234731561	+1	tier1	-	no_errors	ENST00000389758	ensembl	human	novel	74_37	missense	25.81	23	8	SNP	0.013	G
MT-CO1	4512	genome.wustl.edu	37	M	4278	4278	+	5'Flank	SNP	A	A	G			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chrM:4278A>G	ENST00000361624.2	+	0	0				MT-TM_ENST00000387377.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-ND2_ENST00000361453.3_5'Flank			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						ATATGTCTGATAAAAGAGTTA	0.378																																																	0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395			M.37:g.4278A>G	Exception_encountered		Q34770	RNA	SNP	-	NULL	ENST00000361624.2	37	NULL		MT																																																																																			MT-TI	-	-	ENSG00000210100		0.378	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-TI	HGNC	protein_coding		-	0.00	32	0	A	YP_003024028		4278	+1	tier1	-	no_errors	ENST00000387365	ensembl	human	known	74_37	rna	16.67	10	2	SNP	NULL	G
MT-CO1	4512	genome.wustl.edu	37	M	4317	4317	+	5'Flank	SNP	A	A	G			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chrM:4317A>G	ENST00000361624.2	+	0	0				MT-TM_ENST00000387377.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-ND2_ENST00000361453.3_5'Flank			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						TAGGAGCTTAAACCCCCTTAT	0.403																																																	0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395			M.37:g.4317A>G	Exception_encountered		Q34770	RNA	SNP	-	NULL	ENST00000361624.2	37	NULL		MT																																																																																			MT-TI	-	-	ENSG00000210100		0.403	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-TI	HGNC	protein_coding		-	0.00	40	0	A	YP_003024028		4317	+1	tier1	rs121434465	no_errors	ENST00000387365	ensembl	human	known	74_37	rna	14.29	12	2	SNP	NULL	G
MT-CO1	4512	genome.wustl.edu	37	M	6567	6567	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chrM:6567C>G	ENST00000361624.2	+	1	664	c.664C>G	c.(664-666)Ccc>Gcc	p.P222A	MT-TM_ENST00000387377.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-CO2_ENST00000361739.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TK_ENST00000387421.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TA_ENST00000387392.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	222					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						CCTTCTTCGACCCCGCCGGAG	0.478																																																	0																																										SO:0001583	missense	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.664C>G	M.37:g.6567C>G	ENSP00000354499:p.Pro222Ala		Q34770	Missense_Mutation	SNP	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1	p.P222A	ENST00000361624.2	37	c.664		MT																																																																																			MT-CO1	-	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom	ENSG00000198804		0.478	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-CO1	HGNC	protein_coding		-	0.00	66	0	C	YP_003024028		6567	+1	tier1	-	no_errors	ENST00000361624	ensembl	human	known	74_37	missense	10.00	18	2	SNP	NULL	G
MUC4	4585	genome.wustl.edu	37	3	195512302	195512302	+	Missense_Mutation	SNP	G	G	T	rs201164821	byFrequency	TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr3:195512302G>T	ENST00000463781.3	-	2	6608	c.6149C>A	c.(6148-6150)cCt>cAt	p.P2050H	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P2050H	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCTGGTGACAGGAAGAGGGGT	0.572																																																	0													23.0	21.0	22.0					3																	195512302		687	1578	2265	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6149C>A	3.37:g.195512302G>T	ENSP00000417498:p.Pro2050His		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.P2050H	ENST00000463781.3	37	c.6149	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	G	1.797	-0.478030	0.04414	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30714	1.52;1.53	.	.	.	.	.	.	.	.	T	0.13970	0.0338	N	0.19112	0.55	0.09310	N	1	B	0.22909	0.077	B	0.08055	0.003	T	0.24870	-1.0148	6	.	.	.	.	.	.	.	.	2050	E7ESK3	.	H	2050	ENSP00000417498:P2050H;ENSP00000420243:P2050H	.	P	-	2	0	MUC4	196996697	0.014000	0.17966	0.001000	0.08648	0.017000	0.09413	1.130000	0.31393	-0.833000	0.04245	0.064000	0.15345	CCT	MUC4	-	NULL	ENSG00000145113		0.572	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6		0.00	67	0	G	NM_018406		195512302	-1			no_errors	ENST00000463781	ensembl	human	known	74_37	missense	5.75	81	5	SNP	0.000	T
LINC01317	104355287	genome.wustl.edu	37	2	33952237	33952237	+	lincRNA	SNP	G	G	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr2:33952237G>T	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							TTCTGTCGCTGCAGCTCACAT	0.592																																																	0																																												0																															2.37:g.33952237G>T				RNA	SNP	-	NULL	ENST00000366209.2	37	NULL		2																																																																																			MYADML	-	-	ENSG00000239649		0.592	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	MYADML	HGNC	lincRNA	OTTHUMT00000325406.1	-	0.00	29	0	G			33952237	-1	tier1	-	no_errors	ENST00000474610	ensembl	human	known	74_37	rna	8.00	45	4	SNP	0.979	T
MYB	4602	genome.wustl.edu	37	6	135511293	135511293	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr6:135511293C>T	ENST00000367814.4	+	5	521	c.335C>T	c.(334-336)cCg>cTg	p.P112L	MYB_ENST00000534121.1_Missense_Mutation_p.P112L|MYB_ENST00000341911.5_Missense_Mutation_p.P112L|MYB_ENST00000528774.1_Missense_Mutation_p.P112L|MYB_ENST00000534044.1_Missense_Mutation_p.P112L|MYB_ENST00000525369.1_Missense_Mutation_p.P112L|MYB_ENST00000533624.1_Missense_Mutation_p.P112L|MYB_ENST00000442647.2_Missense_Mutation_p.P112L|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000420123.2_Missense_Mutation_p.P88L|MYB_ENST00000527615.1_Missense_Mutation_p.P112L|MYB_ENST00000316528.8_Missense_Mutation_p.P112L	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	112	HTH myb-type 2. {ECO:0000255|PROSITE- ProRule:PRU00625}.|Interaction with HIPK2 and NLK. {ECO:0000250}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|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)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		AAATACGGTCCGAAACGTTGG	0.373			T	NFIB	adenoid cystic carcinoma																																			Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	0													116.0	113.0	114.0					6																	135511293		2203	4300	6503	SO:0001583	missense	0				CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.335C>T	6.37:g.135511293C>T	ENSP00000356788:p.Pro112Leu		E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.P112L	ENST00000367814.4	37	c.335	CCDS5174.1	6	.	.	.	.	.	.	.	.	.	.	C	32	5.121157	0.94385	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000237302;ENST00000367814;ENST00000527615;ENST00000420123;ENST00000525369;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624;ENST00000430686	T;T;T;T;T;T;T;T;T;T	0.34275	2.58;2.12;2.11;2.13;1.37;1.82;2.57;2.57;1.79;2.15	5.85	5.85	0.93711	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.047795	0.85682	D	0.000000	T	0.45736	0.1357	L	0.33753	1.03	0.80722	D	1	D;P;P;P;D;P;P;D;D	0.89917	1.0;0.793;0.754;0.847;0.999;0.92;0.754;1.0;1.0	D;B;B;B;P;P;B;D;D	0.97110	1.0;0.289;0.106;0.394;0.87;0.564;0.25;0.985;1.0	T	0.45056	-0.9287	10	0.87932	D	0	-9.7828	20.1653	0.98150	0.0:1.0:0.0:0.0	.	112;112;112;112;112;112;112;112;112	E9PI07;E9PLZ5;P10242-2;E9PNL6;E9PRS2;E9PNA4;P10242-4;P10242;Q708E1	.;.;.;.;.;.;.;MYB_HUMAN;.	L	112;112;112;112;112;112;88;112;112;112;112;112;66	ENSP00000339992:P112L;ENSP00000410825:P112L;ENSP00000326328:P112L;ENSP00000356788:P112L;ENSP00000433227:P112L;ENSP00000435938:P112L;ENSP00000434723:P112L;ENSP00000432851:P112L;ENSP00000435055:P112L;ENSP00000436605:P112L	ENSP00000237302:P112L	P	+	2	0	MYB	135552986	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.975000	0.70475	2.768000	0.95171	0.655000	0.94253	CCG	MYB	-	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	ENSG00000118513		0.373	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYB	HGNC	protein_coding	OTTHUMT00000042347.4	-	0.00	19	0	C			135511293	+1	tier1	-	no_errors	ENST00000341911	ensembl	human	known	74_37	missense	19.35	25	6	SNP	1.000	T
NCOA3	8202	genome.wustl.edu	37	20	46279842	46279842	+	Silent	SNP	G	G	A			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr20:46279842G>A	ENST00000371998.3	+	20	3959	c.3768G>A	c.(3766-3768)caG>caA	p.Q1256Q	NCOA3_ENST00000372004.3_Silent_p.Q1252Q|NCOA3_ENST00000371997.3_Silent_p.Q1247Q|NCOA3_ENST00000341724.6_Silent_p.Q1182Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1256	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcaacagcagcagcagcagc	0.567																																																	0													43.0	50.0	48.0					20																	46279842		2201	4299	6500	SO:0001819	synonymous_variant	0			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3768G>A	20.37:g.46279842G>A			A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom	p.Q1256	ENST00000371998.3	37	c.3768	CCDS13407.1	20																																																																																			NCOA3	-	pirsf_Nuclear_rcpt_coactivator	ENSG00000124151		0.567	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA3	HGNC	protein_coding	OTTHUMT00000080405.1		0.00	56	0	G	NM_006534		46279842	+1			no_errors	ENST00000371998	ensembl	human	known	74_37	silent	5.13	72	4	SNP	0.555	A
NEB	4703	genome.wustl.edu	37	2	152348986	152348986	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr2:152348986C>T	ENST00000172853.10	-	144	19367	c.19220G>A	c.(19219-19221)cGg>cAg	p.R6407Q	NEB_ENST00000427231.2_Missense_Mutation_p.R8263Q|NEB_ENST00000604864.1_Missense_Mutation_p.R8263Q|NEB_ENST00000498015.2_5'UTR|NEB_ENST00000397345.3_Missense_Mutation_p.R8263Q|NEB_ENST00000397336.2_Missense_Mutation_p.R238Q|NEB_ENST00000603639.1_Missense_Mutation_p.R8263Q|RIF1_ENST00000457745.1_Intron|NEB_ENST00000409198.1_Missense_Mutation_p.R6407Q|NEB_ENST00000509223.2_Missense_Mutation_p.R176Q			P20929	NEBU_HUMAN	nebulin	6407					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TATTTGTTTCCGGAAACTATC	0.483																																																	0													84.0	87.0	86.0					2																	152348986		1878	4113	5991	SO:0001583	missense	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.19220G>A	2.37:g.152348986C>T	ENSP00000172853:p.Arg6407Gln		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.R8263Q	ENST00000172853.10	37	c.24788		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.423854|5.423854	0.96111|0.96111	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000397337;ENST00000434685|ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000397336;ENST00000509223	.|T;T;T;T;T;T;T	.|0.46063	.|0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.176577	.|0.50627	.|D	.|0.000120	T|T	0.59418|0.59418	0.2192|0.2192	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	.|D;D;P;D;P;D	.|0.76494	.|0.999;0.996;0.9;0.999;0.95;0.995	.|D;D;B;D;B;D	.|0.80764	.|0.994;0.939;0.362;0.948;0.316;0.935	T|T	0.52931|0.52931	-0.8509|-0.8509	5|10	.|0.35671	.|T	.|0.21	.|.	19.2633|19.2633	0.93977|0.93977	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|176;238;176;6407;2745;8263	.|B7Z6B9;B7Z6P9;B7Z6N8;P20929;Q14215;F8WCL5	.|.;.;.;NEBU_HUMAN;.;.	R|Q	397;504|6407;8263;8263;2363;2745;6407;238;176	.|ENSP00000386259:R6407Q;ENSP00000380505:R8263Q;ENSP00000416578:R8263Q;ENSP00000410961:R2745Q;ENSP00000172853:R6407Q;ENSP00000380497:R238Q;ENSP00000427083:R176Q	.|ENSP00000172853:R6407Q	G|R	-|-	1|2	0|0	NEB|NEB	152057232|152057232	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.651000|7.651000	0.83577|0.83577	2.639000|2.639000	0.89480|0.89480	0.655000|0.655000	0.94253|0.94253	GGA|CGG	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.483	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		-	0.00	49	0	C	NM_004543		152348986	-1	tier1	-	no_errors	ENST00000397345	ensembl	human	known	74_37	missense	40.38	31	21	SNP	1.000	T
NELL2	4753	genome.wustl.edu	37	12	45168614	45168614	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr12:45168614C>A	ENST00000429094.2	-	9	1414	c.910G>T	c.(910-912)Gaa>Taa	p.E304*	NELL2_ENST00000395487.2_Nonsense_Mutation_p.E303*|NELL2_ENST00000452445.2_Nonsense_Mutation_p.E304*|NELL2_ENST00000333837.4_Nonsense_Mutation_p.E327*|NELL2_ENST00000549027.1_Nonsense_Mutation_p.E303*|NELL2_ENST00000437801.2_Nonsense_Mutation_p.E354*|NELL2_ENST00000551601.1_Nonsense_Mutation_p.E303*	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	304	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		ATTAGAGTTTCACACTGGATG	0.353											OREG0021741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													133.0	125.0	128.0					12																	45168614		2203	4300	6503	SO:0001587	stop_gained	0			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.910G>T	12.37:g.45168614C>A	ENSP00000390680:p.Glu304*	929	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Nonsense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.E354*	ENST00000429094.2	37	c.1060	CCDS8746.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.649881	0.96714	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000550462;ENST00000552993	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-20.0506	18.7882	0.91963	0.0:1.0:0.0:0.0	.	.	.	.	X	303;304;303;304;303;327;354;303;77;304	.	ENSP00000327988:E327X	E	-	1	0	NELL2	43454881	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	6.999000	0.76283	2.518000	0.84900	0.650000	0.86243	GAA	NELL2	-	pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C	ENSG00000184613		0.353	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL2	HGNC	protein_coding	OTTHUMT00000404180.1	-	0.00	38	0	C	NM_006159		45168614	-1	tier1	-	no_errors	ENST00000437801	ensembl	human	known	74_37	nonsense	16.67	45	9	SNP	1.000	A
NETO1	81832	genome.wustl.edu	37	18	70417507	70417507	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr18:70417507C>T	ENST00000327305.6	-	9	1988	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	NETO1_ENST00000583169.1_Missense_Mutation_p.R444H|RNA5SP460_ENST00000516789.1_RNA|NETO1_ENST00000299430.2_Missense_Mutation_p.R443H	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	444					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GAGGTTACTGCGGCTGCCTTT	0.473																																																	0													151.0	138.0	142.0					18																	70417507		2203	4300	6503	SO:0001583	missense	0			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.1331G>A	18.37:g.70417507C>T	ENSP00000313088:p.Arg444His		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt	p.R444H	ENST00000327305.6	37	c.1331	CCDS12000.1	18	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824131	0.90873	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.43294	0.95;0.95	5.66	4.78	0.61160	.	0.000000	0.64402	D	0.000008	T	0.61961	0.2389	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.75020	0.955;0.985	T	0.64968	-0.6282	10	0.87932	D	0	-21.957	15.012	0.71557	0.0:0.9303:0.0:0.0697	.	443;444	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	H	444;443	ENSP00000313088:R444H;ENSP00000299430:R443H	ENSP00000299430:R443H	R	-	2	0	NETO1	68568487	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.320000	0.59203	2.668000	0.90789	0.460000	0.39030	CGC	NETO1	-	NULL	ENSG00000166342		0.473	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NETO1	HGNC	protein_coding	OTTHUMT00000256301.2	-	0.00	101	0	C	NM_138999		70417507	-1	tier1	-	no_errors	ENST00000327305	ensembl	human	known	74_37	missense	27.03	54	20	SNP	1.000	T
NFKB2	4791	genome.wustl.edu	37	10	104157287	104157287	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr10:104157287C>T	ENST00000369966.3	+	8	756	c.506C>T	c.(505-507)gCc>gTc	p.A169V	NFKB2_ENST00000189444.6_Missense_Mutation_p.A169V|NFKB2_ENST00000428099.1_Missense_Mutation_p.A169V	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	169	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|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)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	TGCCCAGAGGCCGAGCAGCGG	0.597			T	IGH@	B-NHL																																			Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	0													111.0	136.0	128.0					10																	104157287		2089	4217	6306	SO:0001583	missense	0			X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"""Ankyrin repeat domain containing"""	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.506C>T	10.37:g.104157287C>T	ENSP00000358983:p.Ala169Val		A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Missense_Mutation	SNP	pfam_RHD,pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like_dom,smart_IPT,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_Dor,prints_Ankyrin_rpt	p.A169V	ENST00000369966.3	37	c.506	CCDS41564.1	10	.	.	.	.	.	.	.	.	.	.	C	11.06	1.527996	0.27299	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	T;T;T	0.43688	0.94;0.94;0.94	4.95	4.95	0.65309	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.233966	0.42548	D	0.000683	T	0.39682	0.1087	L	0.56124	1.755	0.49389	D	0.999781	B;B;B	0.13145	0.007;0.004;0.001	B;B;B	0.12156	0.006;0.007;0.004	T	0.24584	-1.0156	10	0.44086	T	0.13	.	13.5547	0.61754	0.0:0.9226:0.0:0.0774	.	169;169;169	D3DR86;Q00653;A8K9D9	.;NFKB2_HUMAN;.	V	169	ENSP00000410256:A169V;ENSP00000358983:A169V;ENSP00000189444:A169V	ENSP00000189444:A169V	A	+	2	0	NFKB2	104147277	0.949000	0.32298	0.976000	0.42696	0.304000	0.27724	2.064000	0.41432	2.291000	0.77112	0.561000	0.74099	GCC	NFKB2	-	pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD	ENSG00000077150		0.597	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFKB2	HGNC	protein_coding	OTTHUMT00000050080.2	-	0.00	27	0	C			104157287	+1	tier1	-	no_errors	ENST00000369966	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.995	T
NOTCH4	4855	genome.wustl.edu	37	6	32168713	32168713	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr6:32168713C>T	ENST00000375023.3	-	23	4348	c.4210G>A	c.(4210-4212)Gac>Aac	p.D1404N		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1404					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGCCCAGGGTCCCAGGGACAG	0.642																																																	0													60.0	44.0	50.0					6																	32168713		1511	2709	4220	SO:0001583	missense	0				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.4210G>A	6.37:g.32168713C>T	ENSP00000364163:p.Asp1404Asn		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,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,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.D1404N	ENST00000375023.3	37	c.4210	CCDS34420.1	6	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027821	0.54790	.	.	ENSG00000204301	ENST00000375023	T	0.30182	1.54	4.74	4.74	0.60224	Notch, NODP domain (1);	0.360105	0.19955	N	0.102334	T	0.12050	0.0293	N	0.24115	0.695	0.80722	D	1	B;B	0.29936	0.019;0.262	B;B	0.38921	0.102;0.285	T	0.05321	-1.0892	10	0.10636	T	0.68	.	13.1443	0.59452	0.0:1.0:0.0:0.0	.	1404;1403	Q99466;B0S882	NOTC4_HUMAN;.	N	1404	ENSP00000364163:D1404N	ENSP00000364163:D1404N	D	-	1	0	NOTCH4	32276691	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.030000	0.41108	2.497000	0.84241	0.456000	0.33151	GAC	NOTCH4	-	pirsf_Notch,pfam_Notch_NODP_dom,prints_Notch_4	ENSG00000204301		0.642	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	HGNC	protein_coding	OTTHUMT00000076045.2	-	0.00	36	0	C			32168713	-1	tier1	-	no_errors	ENST00000375023	ensembl	human	known	74_37	missense	31.03	20	9	SNP	1.000	T
NTM	50863	genome.wustl.edu	37	11	131530880	131530880	+	Intron	DEL	A	A	-			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr11:131530880delA	ENST00000374791.3	+	2	411				AP003039.3_ENST00000416725.1_lincRNA|NTM_ENST00000539799.1_Intron|NTM_ENST00000427481.2_5'Flank	NM_001048209.1	NP_001041674.1	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						TTTAAAGTGGAAAAAAAAATG	0.408																																																	0																																										SO:0001627	intron_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	ENST00000374791.3:c.83-250578A>-	11.37:g.131530880delA			A0MTT2|Q6UXJ3|Q86VJ9	RNA	DEL	-	NULL	ENST00000374791.3	37	NULL	CCDS41733.1	11																																																																																			NTM	-	-	ENSG00000182667		0.408	NTM-002	KNOWN	basic|CCDS	protein_coding	NTM	HGNC	protein_coding	OTTHUMT00000141936.2		0.00	20	0	A	NM_016522		131530880	+1	tier1		no_errors	ENST00000477098	ensembl	human	putative	74_37	rna	29.17	17	7	DEL	0.999	-
ECD	11319	genome.wustl.edu	37	10	74890583	74890583	+	IGR	SNP	G	G	A	rs11381190|rs76518920|rs573267087	byFrequency	TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr10:74890583G>A	ENST00000372979.4	-	0	3069				NUDT13_ENST00000537969.1_Silent_p.L130L|NUDT13_ENST00000357321.4_Silent_p.L327L|NUDT13_ENST00000544879.1_Silent_p.L201L|NUDT13_ENST00000372997.3_3'UTR|NUDT13_ENST00000488223.1_3'UTR|NUDT13_ENST00000349051.5_Silent_p.L238L	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)						cell proliferation (GO:0008283)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of glycolytic process (GO:0006110)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					CATTCTGGCTGCCCCCTAAGT	0.517																																																	0													73.0	68.0	69.0					10																	74890583		2203	4300	6503	SO:0001628	intergenic_variant	0			BC000721	CCDS7321.1, CCDS44433.1, CCDS44434.1	10q22.3	2006-02-07				ENSG00000122882			17029	protein-coding gene	gene with protein product						9928932, 15128659	Standard	NM_007265		Approved	hSGT1, GCR2	uc001jtn.3	O95905			10.37:g.74890583G>A			C9JX46|E9PAW8	Silent	SNP	pfam_NUDIX_hydrolase_dom,pfam_NADH_PPase-like_N,pfam_Znr_NADH_PPase,superfamily_NUDIX_hydrolase_dom-like	p.L327	ENST00000372979.4	37	c.981	CCDS7321.1	10																																																																																			NUDT13	-	superfamily_NUDIX_hydrolase_dom-like	ENSG00000166321		0.517	ECD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT13	HGNC	protein_coding	OTTHUMT00000048606.1	-	0.00	48	0	G	NM_007265		74890583	+1	tier1	-	no_errors	ENST00000357321	ensembl	human	known	74_37	silent	9.86	63	7	SNP	0.984	A
OLFML1	283298	genome.wustl.edu	37	11	7507133	7507133	+	Silent	SNP	T	T	C			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr11:7507133T>C	ENST00000329293.3	+	1	421	c.27T>C	c.(25-27)tcT>tcC	p.S9S	CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000528758.1_Silent_p.S9S|OLFML1_ENST00000530135.1_Silent_p.S9S	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	9						extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GAGGAGCTTCTGCATTGCTGG	0.562																																																	0													173.0	144.0	154.0					11																	7507133		2201	4296	6497	SO:0001819	synonymous_variant	0			AY358591	CCDS7779.1	11p15	2008-02-05			ENSG00000183801	ENSG00000183801			24473	protein-coding gene	gene with protein product							Standard	NM_198474		Approved	UNQ564	uc001mfi.3	Q6UWY5	OTTHUMG00000165527	ENST00000329293.3:c.27T>C	11.37:g.7507133T>C			B4DP03|Q569G4	Silent	SNP	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.S9	ENST00000329293.3	37	c.27	CCDS7779.1	11																																																																																			OLFML1	-	NULL	ENSG00000183801		0.562	OLFML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFML1	HGNC	protein_coding	OTTHUMT00000384656.1	-	0.00	68	0	T	NM_198474		7507133	+1	tier1	-	no_errors	ENST00000329293	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.046	C
OPA3	80207	genome.wustl.edu	37	19	46056917	46056917	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr19:46056917G>A	ENST00000263275.4	-	2	449	c.395C>T	c.(394-396)gCg>gTg	p.A132V	OPA3_ENST00000323060.3_Intron|OPA3_ENST00000544371.1_Missense_Mutation_p.A79V	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	132					growth (GO:0040007)|mitochondrion morphogenesis (GO:0070584)|neuromuscular process (GO:0050905)|regulation of lipid metabolic process (GO:0019216)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	mitochondrion (GO:0005739)				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		CGCTTCCAGCGCCAGCGCCAG	0.716																																																	0													11.0	14.0	13.0					19																	46056917		2160	4202	6362	SO:0001583	missense	0			AK025840	CCDS12668.1, CCDS33052.1	19q13.2-q13.3	2014-01-28				ENSG00000125741			8142	protein-coding gene	gene with protein product		606580				9097959, 11668429	Standard	NM_001017989		Approved	FLJ22187, MGA3	uc002pcj.4	Q9H6K4		ENST00000263275.4:c.395C>T	19.37:g.46056917G>A	ENSP00000263275:p.Ala132Val		Q6P384|Q8N784	Missense_Mutation	SNP	pfam_OPA3-like	p.A132V	ENST00000263275.4	37	c.395	CCDS12668.1	19	.	.	.	.	.	.	.	.	.	.	G	11.74	1.727566	0.30593	.	.	ENSG00000125741	ENST00000263275;ENST00000544371	D;D	0.83506	-1.73;-1.73	4.77	4.77	0.60923	.	.	.	.	.	T	0.69486	0.3116	N	0.16743	0.435	0.26034	N	0.981707	B	0.17268	0.021	B	0.12837	0.008	T	0.55315	-0.8160	9	0.30078	T	0.28	.	9.1046	0.36689	0.0978:0.0:0.9022:0.0	.	132	Q9H6K4	OPA3_HUMAN	V	132;79	ENSP00000263275:A132V;ENSP00000442839:A79V	ENSP00000263275:A132V	A	-	2	0	OPA3	50748757	0.002000	0.14202	0.838000	0.33150	0.620000	0.37586	1.039000	0.30266	2.653000	0.90120	0.561000	0.74099	GCG	OPA3	-	pfam_OPA3-like	ENSG00000125741		0.716	OPA3-002	KNOWN	basic|CCDS	protein_coding	OPA3	HGNC	protein_coding	OTTHUMT00000459601.1	-	0.00	14	0	G			46056917	-1	tier1	-	no_errors	ENST00000263275	ensembl	human	known	74_37	missense	25.00	18	6	SNP	0.821	A
OR1J2	26740	genome.wustl.edu	37	9	125273718	125273718	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr9:125273718G>C	ENST00000335302.5	+	1	638	c.638G>C	c.(637-639)tGt>tCt	p.C213S		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CCATTCATGTGTATCCTGGTA	0.517																																																	0													141.0	113.0	122.0					9																	125273718		2203	4300	6503	SO:0001583	missense	0				CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"""GPCR / Class A : Olfactory receptors"""	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.638G>C	9.37:g.125273718G>C	ENSP00000335575:p.Cys213Ser		A3KFL9|Q6IF14|Q96R90|Q9NZP1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C213S	ENST00000335302.5	37	c.638	CCDS35121.1	9	.	.	.	.	.	.	.	.	.	.	G	11.81	1.749415	0.30955	.	.	ENSG00000197233	ENST00000335302	T	0.36878	1.23	4.9	-1.0	0.10196	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43579	U	0.000558	T	0.35219	0.0924	L	0.31752	0.955	0.09310	N	1	D	0.53151	0.958	P	0.58130	0.833	T	0.25710	-1.0124	10	0.39692	T	0.17	.	9.237	0.37473	0.0:0.2187:0.2399:0.5414	.	213	Q8NGS2	OR1J2_HUMAN	S	213	ENSP00000335575:C213S	ENSP00000335575:C213S	C	+	2	0	OR1J2	124313539	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	1.061000	0.30542	-0.031000	0.13781	-0.196000	0.12772	TGT	OR1J2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000197233		0.517	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1J2	HGNC	protein_coding	OTTHUMT00000053932.1	-	0.00	136	0	G			125273718	+1	tier1	-	no_errors	ENST00000335302	ensembl	human	known	74_37	missense	15.00	85	15	SNP	0.000	C
OR2T11	127077	genome.wustl.edu	37	1	248790424	248790424	+	Silent	SNP	C	C	T	rs200548184	byFrequency	TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr1:248790424C>T	ENST00000330803.2	-	1	67	c.6G>A	c.(4-6)acG>acA	p.T2T		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGATGTGTTCGTCATTGATA	0.547																																																	0													32.0	38.0	36.0					1																	248790424		2019	4230	6249	SO:0001819	synonymous_variant	0			BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.6G>A	1.37:g.248790424C>T			Q6IEY6	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T2	ENST00000330803.2	37	c.6	CCDS31122.1	1																																																																																			OR2T11	-	NULL	ENSG00000183130		0.547	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T11	HGNC	protein_coding	OTTHUMT00000097134.1	-	0.00	54	0	C	NM_001001964		248790424	-1	tier1	-	no_errors	ENST00000330803	ensembl	human	known	74_37	silent	13.95	37	6	SNP	0.253	T
OR4L1	122742	genome.wustl.edu	37	14	20528886	20528886	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr14:20528886A>T	ENST00000315683.1	+	1	683	c.683A>T	c.(682-684)aAa>aTa	p.K228I		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GTACCAAAAAAATCATCACAT	0.443																																																	0													192.0	178.0	183.0					14																	20528886		2203	4300	6503	SO:0001583	missense	0				CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"""GPCR / Class A : Olfactory receptors"""	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.683A>T	14.37:g.20528886A>T	ENSP00000319217:p.Lys228Ile		Q6IEZ5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.K228I	ENST00000315683.1	37	c.683	CCDS32029.1	14	.	.	.	.	.	.	.	.	.	.	.	10.08	1.251788	0.22880	.	.	ENSG00000176246	ENST00000315683	T	0.00015	9.17	4.13	-5.65	0.02459	GPCR, rhodopsin-like superfamily (1);	1.484720	0.04115	N	0.315297	T	0.00144	0.0004	L	0.61387	1.9	0.09310	N	1	P	0.40660	0.726	P	0.46389	0.515	T	0.14615	-1.0466	10	0.87932	D	0	.	6.0592	0.19828	0.609:0.0:0.205:0.186	.	228	Q8NH43	OR4L1_HUMAN	I	228	ENSP00000319217:K228I	ENSP00000319217:K228I	K	+	2	0	OR4L1	19598726	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-2.276000	0.01161	-0.869000	0.04052	0.528000	0.53228	AAA	OR4L1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176246		0.443	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4L1	HGNC	protein_coding	OTTHUMT00000404381.1	-	0.00	93	0	A			20528886	+1	tier1	-	no_errors	ENST00000315683	ensembl	human	known	74_37	missense	35.37	53	29	SNP	0.000	T
PARD3	56288	genome.wustl.edu	37	10	34666952	34666952	+	Silent	SNP	G	G	A			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr10:34666952G>A	ENST00000374789.3	-	10	1807	c.1482C>T	c.(1480-1482)ctC>ctT	p.L494L	PARD3_ENST00000374794.3_Silent_p.L450L|PARD3_ENST00000340077.5_Silent_p.L494L|PARD3_ENST00000544292.1_Silent_p.L224L|PARD3_ENST00000545693.1_Silent_p.L494L|PARD3_ENST00000374773.1_Silent_p.L494L|PARD3_ENST00000346874.4_Silent_p.L494L|PARD3_ENST00000545260.1_Silent_p.L450L|PARD3_ENST00000374790.3_Silent_p.L450L|PARD3_ENST00000350537.4_Silent_p.L494L|PARD3_ENST00000374788.3_Silent_p.L494L|PARD3_ENST00000374776.1_Silent_p.L494L	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	494	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CCCCCCGGGGGAGAATGTTTT	0.488																																																	0													97.0	105.0	103.0					10																	34666952		2203	4300	6503	SO:0001819	synonymous_variant	0			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.1482C>T	10.37:g.34666952G>A			F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Silent	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L494	ENST00000374789.3	37	c.1482	CCDS7178.1	10																																																																																			PARD3	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000148498		0.488	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1	-	0.00	12	0	G	NM_019619		34666952	-1	tier1	-	no_errors	ENST00000374789	ensembl	human	known	74_37	silent	30.30	22	10	SNP	0.632	A
PATL1	219988	genome.wustl.edu	37	11	59406601	59406601	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr11:59406601G>C	ENST00000300146.9	-	18	2295	c.2211C>G	c.(2209-2211)atC>atG	p.I737M	AP000442.1_ENST00000531108.1_RNA|AP000442.1_ENST00000531311.1_RNA	NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	737	Involved in nuclear spleckles localization.|Region C.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TAGGTATAGAGATTGGCTTGG	0.483																																																	0													87.0	86.0	86.0					11																	59406601		1920	4125	6045	SO:0001583	missense	0			AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.2211C>G	11.37:g.59406601G>C	ENSP00000300146:p.Ile737Met		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Missense_Mutation	SNP	pfam_Topo_II-assoc_PAT1	p.I737M	ENST00000300146.9	37	c.2211	CCDS44613.1	11	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836618	0.50951	.	.	ENSG00000166889	ENST00000300146;ENST00000428532	T	0.47528	0.84	6.06	5.14	0.70334	.	0.339581	0.35495	N	0.003164	T	0.28466	0.0704	N	0.08118	0	0.28422	N	0.917684	B	0.18166	0.026	B	0.21360	0.034	T	0.16217	-1.0410	10	0.52906	T	0.07	-1.771	11.4027	0.49878	0.0713:0.1593:0.7694:0.0	.	737	Q86TB9	PATL1_HUMAN	M	737;670	ENSP00000300146:I737M	ENSP00000300146:I737M	I	-	3	3	PATL1	59163177	1.000000	0.71417	0.988000	0.46212	0.997000	0.91878	1.198000	0.32223	2.882000	0.98803	0.655000	0.94253	ATC	PATL1	-	NULL	ENSG00000166889		0.483	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATL1	HGNC	protein_coding	OTTHUMT00000394559.1	-	0.00	59	0	G	NM_152716		59406601	-1	tier1	-	no_errors	ENST00000300146	ensembl	human	known	74_37	missense	5.56	85	5	SNP	1.000	C
PCDHGA1	56114	genome.wustl.edu	37	5	140711390	140711390	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr5:140711390G>T	ENST00000517417.1	+	1	1139	c.1139G>T	c.(1138-1140)gGc>gTc	p.G380V	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Missense_Mutation_p.G380V	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	380	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGACAATGGCTACACCACA	0.418																																																	0													52.0	50.0	51.0					5																	140711390		2203	4300	6503	SO:0001583	missense	0			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1139G>T	5.37:g.140711390G>T	ENSP00000431083:p.Gly380Val		Q2M273|Q9Y5D6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G380V	ENST00000517417.1	37	c.1139	CCDS54922.1	5	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799204	0.50208	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.01745	4.66;4.66	3.85	3.85	0.44370	Cadherin (4);Cadherin-like (1);	0.000000	0.44097	U	0.000485	T	0.18257	0.0438	H	0.97291	3.975	0.80722	D	1	D;D	0.64830	0.992;0.994	D;D	0.70227	0.968;0.939	T	0.38394	-0.9663	10	0.87932	D	0	.	15.9401	0.79747	0.0:0.0:1.0:0.0	.	380;380	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	V	380	ENSP00000431083:G380V;ENSP00000367345:G380V	ENSP00000367345:G380V	G	+	2	0	PCDHGA1	140691574	1.000000	0.71417	0.869000	0.34112	0.485000	0.33311	7.750000	0.85110	2.155000	0.67459	0.650000	0.86243	GGC	PCDHGA1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204956		0.418	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHGA1	HGNC	protein_coding	OTTHUMT00000374737.1	-	0.00	26	0	G	NM_018912		140711390	+1	tier1	-	no_errors	ENST00000517417	ensembl	human	known	74_37	missense	15.00	17	3	SNP	1.000	T
PCID2	55795	genome.wustl.edu	37	13	113832491	113832491	+	3'UTR	SNP	T	T	A			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr13:113832491T>A	ENST00000337344.4	-	0	1297				PCID2_ENST00000493650.1_5'UTR|PCID2_ENST00000375477.1_3'UTR|PCID2_ENST00000246505.5_3'UTR|PCID2_ENST00000375479.2_3'UTR|PCID2_ENST00000375459.1_3'UTR|PCID2_ENST00000375457.2_3'UTR	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2						negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			TGCTCACCCGTCCTCGGGGCT	0.547																																																	0													139.0	111.0	120.0					13																	113832491		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.*21A>T	13.37:g.113832491T>A			A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	RNA	SNP	-	NULL	ENST00000337344.4	37	NULL	CCDS9532.2	13																																																																																			PCID2	-	-	ENSG00000126226		0.547	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	PCID2	HGNC	protein_coding	OTTHUMT00000045897.1	-	0.00	65	0	T	NM_018386		113832491	-1	tier1	-	no_errors	ENST00000462653	ensembl	human	known	74_37	rna	9.30	39	4	SNP	0.001	A
PCM1	5108	genome.wustl.edu	37	8	17817616	17817616	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr8:17817616A>C	ENST00000519253.1	+	14	2385	c.2134A>C	c.(2134-2136)Aac>Cac	p.N712H	PCM1_ENST00000325083.8_Missense_Mutation_p.N712H|PCM1_ENST00000524226.1_Missense_Mutation_p.N713H			Q15154	PCM1_HUMAN	pericentriolar material 1	712					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AAATTCAAATAACACTAGAGG	0.353			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																			Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"""E, L"""	0													68.0	64.0	65.0					8																	17817616		1857	4089	5946	SO:0001583	missense	0				CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.2134A>C	8.37:g.17817616A>C	ENSP00000431099:p.Asn712His		Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	NULL	p.N712H	ENST00000519253.1	37	c.2134		8	.	.	.	.	.	.	.	.	.	.	A	24.2	4.507139	0.85282	.	.	ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000524226	T;T;T	0.30714	3.44;1.52;1.52	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.53417	0.1795	M	0.64997	1.995	0.80722	D	1	P;D;P	0.89917	0.853;1.0;0.853	P;D;P	0.91635	0.628;0.999;0.628	T	0.55451	-0.8139	10	0.62326	D	0.03	-17.2805	15.7642	0.78114	1.0:0.0:0.0:0.0	.	712;713;712	E7ETA6;E7EV56;Q15154	.;.;PCM1_HUMAN	H	712;712;713	ENSP00000327077:N712H;ENSP00000431099:N712H;ENSP00000430521:N713H	ENSP00000327077:N712H	N	+	1	0	PCM1	17861896	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.113000	0.77095	2.260000	0.74910	0.528000	0.53228	AAC	PCM1	-	NULL	ENSG00000078674		0.353	PCM1-003	NOVEL	basic|exp_conf	protein_coding	PCM1	HGNC	protein_coding	OTTHUMT00000374800.1	-	0.00	55	0	A	NM_006197		17817616	+1	tier1	-	no_errors	ENST00000325083	ensembl	human	known	74_37	missense	24.39	31	10	SNP	1.000	C
PCOLCE	5118	genome.wustl.edu	37	7	100201742	100201742	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr7:100201742delC	ENST00000223061.5	+	3	645	c.365delC	c.(364-366)gccfs	p.A122fs	PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000446022.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE_ENST00000496269.1_3'UTR	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	122	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCCTAGTCGCCCCCGGCAAC	0.682																																																	0													63.0	72.0	69.0					7																	100201742		2203	4300	6503	SO:0001589	frameshift_variant	0			L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"""procollagen, type 1, COOH-terminal proteinase enhancer"", ""procollagen C-proteinase enhancer 1"""	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.365delC	7.37:g.100201742delC	ENSP00000223061:p.Ala122fs		B2R9E1|O14550	Frame_Shift_Del	DEL	pfam_CUB_dom,pfam_Netrin_module_non-TIMP,superfamily_CUB_dom,superfamily_TIMP-like_OB-fold,smart_CUB_dom,smart_Netrin_module_non-TIMP,pfscan_CUB_dom,pfscan_Netrin_domain	p.G124fs	ENST00000223061.5	37	c.365	CCDS5700.1	7																																																																																			PCOLCE	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000106333		0.682	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCOLCE	HGNC	protein_coding	OTTHUMT00000345285.1		0.00	28	0	C	NM_002593		100201742	+1	tier1		no_errors	ENST00000223061	ensembl	human	known	74_37	frame_shift_del	7.69	24	2	DEL	1.000	-
PHLDB1	23187	genome.wustl.edu	37	11	118505783	118505783	+	Intron	DEL	C	C	-	rs527307235		TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr11:118505783delC	ENST00000361417.2	+	11	2790				AP002954.3_ENST00000530198.1_RNA|PHLDB1_ENST00000534672.1_Intron|PHLDB1_ENST00000356063.5_Intron	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1											breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AGTTCCAccgccccccctccc	0.687																																																	0																																										SO:0001627	intron_variant	0				CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.2380-328C>-	11.37:g.118505783delC			B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	RNA	DEL	-	NULL	ENST00000361417.2	37	NULL	CCDS8401.1	11																																																																																			PHLDB1	-	-	ENSG00000019144		0.687	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB1	HGNC	protein_coding	OTTHUMT00000389279.1		0.00	14	0	C	NM_015157		118505783	+1	tier1		no_errors	ENST00000527500	ensembl	human	known	74_37	rna	14.29	12	2	DEL	0.999	-
PIGW	284098	genome.wustl.edu	37	17	34893067	34893067	+	Silent	SNP	G	G	A			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr17:34893067G>A	ENST00000592983.1	+	2	697	c.117G>A	c.(115-117)ctG>ctA	p.L39L	MYO19_ENST00000544606.1_5'Flank|MYO19_ENST00000590081.1_Intron|MYO19_ENST00000586007.1_5'Flank|MYO19_ENST00000268852.9_5'Flank|MYO19_ENST00000431794.3_5'Flank|PIGW_ENST00000328396.2_Silent_p.L39L			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	39					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAGGGTTCCTGATCATTTTCT	0.443																																																	0													236.0	210.0	219.0					17																	34893067		2203	4300	6503	SO:0001819	synonymous_variant	0			AB097818	CCDS11313.1	17q21.1	2014-05-06	2006-06-28		ENSG00000184886	ENSG00000277161		"""Phosphatidylinositol glycan anchor biosynthesis"""	23213	protein-coding gene	gene with protein product		610275	"""phosphatidylinositol glycan, class W"""			14517336, 12714589	Standard	XM_005257238		Approved	Gwt1, FLJ37433	uc002hmz.1	Q7Z7B1	OTTHUMG00000188438	ENST00000592983.1:c.117G>A	17.37:g.34893067G>A			Q8N9G3	Silent	SNP	pfam_GWT1,pirsf_GWT1	p.L39	ENST00000592983.1	37	c.117	CCDS11313.1	17																																																																																			PIGW	-	pirsf_GWT1	ENSG00000184886		0.443	PIGW-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIGW	HGNC	protein_coding	OTTHUMT00000451318.1	-	0.00	62	0	G	NM_178517		34893067	+1	tier1	-	no_errors	ENST00000328396	ensembl	human	known	74_37	silent	19.74	61	15	SNP	0.084	A
PNPLA6	10908	genome.wustl.edu	37	19	7606252	7606252	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr19:7606252C>T	ENST00000221249.6	+	11	1251	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W	PNPLA6_ENST00000414982.3_Missense_Mutation_p.R322W|PNPLA6_ENST00000600737.1_Missense_Mutation_p.R313W|PNPLA6_ENST00000545201.2_Missense_Mutation_p.R274W|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R274W	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	313					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						CATCATGGTGCGGCTGCAGCG	0.647																																																	0													46.0	40.0	42.0					19																	7606252		2203	4300	6503	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.820C>T	19.37:g.7606252C>T	ENSP00000221249:p.Arg274Trp		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.R322W	ENST00000221249.6	37	c.964	CCDS32891.1	19	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044277	0.75732	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000544207;ENST00000450331	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	4.99	1.35	0.21983	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.65883	0.2734	M	0.79693	2.465	0.58432	D	0.999999	B;D;B;D	0.59767	0.034;0.967;0.057;0.986	B;P;B;P	0.55112	0.032;0.616;0.069;0.769	T	0.72354	-0.4319	10	0.87932	D	0	.	13.9486	0.64101	0.2406:0.7594:0.0:0.0	.	313;274;313;274	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	W	274;274;322;211;274	ENSP00000221249:R274W;ENSP00000443323:R274W;ENSP00000407509:R322W;ENSP00000394348:R274W	ENSP00000221249:R274W	R	+	1	2	PNPLA6	7512252	1.000000	0.71417	0.907000	0.35723	0.815000	0.46073	1.740000	0.38228	0.221000	0.20879	0.462000	0.41574	CGG	PNPLA6	-	superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	ENSG00000032444		0.647	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PNPLA6	HGNC	protein_coding	OTTHUMT00000459275.1	-	0.00	43	0	C	NM_006702		7606252	+1	tier1	-	no_errors	ENST00000414982	ensembl	human	known	74_37	missense	42.86	16	12	SNP	0.997	T
P2RY11	5032	genome.wustl.edu	37	19	10224714	10224714	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr19:10224714G>A	ENST00000321826.4	+	2	609	c.425G>A	c.(424-426)cGa>cAa	p.R142Q	PPAN_ENST00000556468.1_Missense_Mutation_p.R562Q|PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.R562Q	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11	142					activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			AGCCACCTGCGACCCAAGCAC	0.662																																																	0													59.0	54.0	55.0					19																	10224714		2203	4300	6503	SO:0001583	missense	0			AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166	ENST00000321826.4:c.425G>A	19.37:g.10224714G>A	ENSP00000323872:p.Arg142Gln		B2R8X9|O43190|Q9BYU4|Q9H170	Missense_Mutation	SNP	pfam_Brix,pfam_GPCR_Rhodpsn,superfamily_Anticodon-bd,smart_Brix,prints_GPCR_Rhodpsn,pfscan_Brix,pfscan_GPCR_Rhodpsn_7TM	p.R562Q	ENST00000321826.4	37	c.1685	CCDS12226.1	19	.	.	.	.	.	.	.	.	.	.	G	8.154	0.788104	0.16258	.	.	ENSG00000243207;ENSG00000130810;ENSG00000244165	ENST00000393796;ENST00000556468;ENST00000321826	T;T;T	0.38077	1.16;1.16;1.16	4.62	0.0338	0.14181	GPCR, rhodopsin-like superfamily (1);	0.673312	0.13483	N	0.384549	T	0.24236	0.0587	L	0.43152	1.355	0.09310	N	1	B	0.25169	0.119	B	0.17722	0.019	T	0.15521	-1.0434	10	0.37606	T	0.19	-2.0047	4.5492	0.12103	0.43:0.1586:0.4113:0.0	.	142	Q96G91	P2Y11_HUMAN	Q	562;562;142	ENSP00000377385:R562Q;ENSP00000450710:R562Q;ENSP00000323872:R142Q	ENSP00000323872:R142Q	R	+	2	0	PPAN;P2RY11;PPAN-P2RY11	10085714	0.000000	0.05858	0.052000	0.19188	0.053000	0.15095	-0.329000	0.07935	-0.032000	0.13758	-0.224000	0.12420	CGA	PPAN-P2RY11	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000243207		0.662	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAN-P2RY11	HGNC	protein_coding	OTTHUMT00000316664.2	-	0.00	34	0	G	NM_002566		10224714	+1	tier1	-	no_errors	ENST00000393796	ensembl	human	known	74_37	missense	21.88	25	7	SNP	0.004	A
PSMD2	5708	genome.wustl.edu	37	3	184019404	184019404	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr3:184019404G>T	ENST00000310118.4	+	4	995	c.437G>T	c.(436-438)gGc>gTc	p.G146V	PSMD2_ENST00000435761.1_5'UTR|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.G16V|PSMD2_ENST00000459910.1_3'UTR	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	146					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	CGGCTAGTGGGCTCCCAGGAG	0.488																																					Colon(24;313 636 6917 9932 15554)												0													107.0	105.0	105.0					3																	184019404		2203	4300	6503	SO:0001583	missense	0			AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"""Proteasome (prosome, macropain) subunits"""	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.437G>T	3.37:g.184019404G>T	ENSP00000310129:p.Gly146Val		B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Missense_Mutation	SNP	pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1	p.G146V	ENST00000310118.4	37	c.437	CCDS3258.1	3	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470944	0.84533	.	.	ENSG00000175166	ENST00000310118;ENST00000417952;ENST00000538096;ENST00000439383	T;T;T	0.42900	1.95;1.95;0.96	4.48	4.48	0.54585	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70228	0.3200	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.77968	-0.2388	10	0.72032	D	0.01	-13.4426	17.3567	0.87338	0.0:0.0:1.0:0.0	.	146	Q13200	PSMD2_HUMAN	V	146;146;138;16	ENSP00000310129:G146V;ENSP00000414061:G146V;ENSP00000416028:G16V	ENSP00000310129:G146V	G	+	2	0	PSMD2	185502098	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.563000	0.98148	2.317000	0.78254	0.557000	0.71058	GGC	PSMD2	-	superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1	ENSG00000175166		0.488	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD2	HGNC	protein_coding	OTTHUMT00000345843.1		0.00	61	0	G	NM_002808		184019404	+1			no_errors	ENST00000310118	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T
PTPRQ	374462	genome.wustl.edu	37	12	81013286	81013287	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr12:81013286_81013287insA	ENST00000266688.5	+	36	5342_5343	c.5342_5343insA	c.(5341-5346)ataaaafs	p.IK1781fs				Q9UMZ3	PTPRQ_HUMAN	protein tyrosine phosphatase, receptor type, Q	1827	Fibronectin type-III 18. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of fat cell differentiation (GO:0045598)	integral component of membrane (GO:0016021)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(7)|kidney(9)|lung(2)|prostate(1)|skin(2)|stomach(2)	24						CATGGACCAATAAAAAATGTAC	0.356																																																	0																																										SO:0001589	frameshift_variant	0			AF169351	CCDS73501.1	12q21.31	2013-02-11	2001-12-04		ENSG00000139304	ENSG00000139304		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9679	protein-coding gene	gene with protein product		603317	"""deafness, autosomal recessive 84"""	DFNB84		20346435	Standard	NM_001145026		Approved		uc001sze.2	Q9UMZ3	OTTHUMG00000170171	ENST00000266688.5:c.5348dupA	12.37:g.81013292_81013292dupA	ENSP00000266688:p.Ile1781fs			Frame_Shift_Ins	INS	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.N1783fs	ENST00000266688.5	37	c.5342_5343		12																																																																																			PTPRQ	-	NULL	ENSG00000139304		0.356	PTPRQ-201	KNOWN	basic|appris_principal	protein_coding	PTPRQ	HGNC	protein_coding			0.00	35	0	-	NM_001145026		81013287	+1	tier1		no_errors	ENST00000266688	ensembl	human	known	74_37	frame_shift_ins	25.64	29	10	INS	0.997:0.981	A
QARS	5859	genome.wustl.edu	37	3	49135444	49135444	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr3:49135444G>T	ENST00000306125.6	-	23	2595	c.2258C>A	c.(2257-2259)cCa>cAa	p.P753Q	QARS_ENST00000470225.1_5'Flank|QARS_ENST00000414533.1_Missense_Mutation_p.P742Q			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	753					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)	p.P753L(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	ATGGCTGTCTGGATCCACGGA	0.522																																																	1	Substitution - Missense(1)	prostate(1)											141.0	138.0	139.0					3																	49135444		2203	4300	6503	SO:0001583	missense	0			X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.2258C>A	3.37:g.49135444G>T	ENSP00000307567:p.Pro753Gln		B4DWJ2	Missense_Mutation	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_Gln-tRNA-synth_Ib_RNA-bd_N,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_Gln-tRNA-synth_Ib_RNA-bd_2,superfamily_Ribosomal_L25/Gln-tRNA_synth,prints_Glu/Gln-tRNA-synth,tigrfam_Gln-tRNA-synth	p.P753Q	ENST00000306125.6	37	c.2258	CCDS2788.1	3	.	.	.	.	.	.	.	.	.	.	G	24.5	4.543261	0.86022	.	.	ENSG00000172053	ENST00000306125;ENST00000414533	T;T	0.21932	1.98;1.98	5.73	5.73	0.89815	Ribosomal protein L25/Gln-tRNA synthetase, anti-codon-binding domain (1);Ribosomal protein L25/Gln-tRNA synthetase, beta-barrel domain (1);	0.052941	0.85682	D	0.000000	T	0.35682	0.0940	L	0.41906	1.305	0.80722	D	1	D;D	0.56287	0.975;0.975	P;P	0.58454	0.839;0.839	T	0.00690	-1.1608	10	0.39692	T	0.17	-11.0261	19.5237	0.95195	0.0:0.0:1.0:0.0	.	742;753	B4DWJ2;P47897	.;SYQ_HUMAN	Q	753;742	ENSP00000307567:P753Q;ENSP00000390015:P742Q	ENSP00000307567:P753Q	P	-	2	0	QARS	49110448	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.297000	0.96120	2.721000	0.93114	0.655000	0.94253	CCA	QARS	-	superfamily_Ribosomal_L25/Gln-tRNA_synth,tigrfam_Gln-tRNA-synth	ENSG00000172053		0.522	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QARS	HGNC	protein_coding	OTTHUMT00000345689.2		0.00	44	0	G	NM_005051		49135444	-1			no_errors	ENST00000306125	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	T
RAB3GAP2	25782	genome.wustl.edu	37	1	220440885	220440885	+	Intron	SNP	C	C	T	rs34147613|rs397814336	byFrequency	TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr1:220440885C>T	ENST00000358951.2	-	1	232				RAB3GAP2_ENST00000462353.1_5'UTR	NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)						establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CCCATTGCCTCTTTTTGATTC	0.423																																																	0																																										SO:0001627	intron_variant	0			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.115+4679G>A	1.37:g.220440885C>T			A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	RNA	SNP	-	NULL	ENST00000358951.2	37	NULL	CCDS31028.1	1																																																																																			RAB3GAP2	-	-	ENSG00000118873		0.423	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP2	HGNC	protein_coding	OTTHUMT00000090205.2		0.00	45	0	C	NM_012414		220440885	-1			no_errors	ENST00000462353	ensembl	human	known	74_37	rna	7.53	86	7	SNP	0.975	T
RASAL3	64926	genome.wustl.edu	37	19	15563476	15563476	+	Missense_Mutation	SNP	G	G	C	rs371247954		TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr19:15563476G>C	ENST00000343625.7	-	16	2906	c.2821C>G	c.(2821-2823)Cgt>Ggt	p.R941G	WIZ_ENST00000263381.7_5'Flank|WIZ_ENST00000389282.4_5'Flank	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	941					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CACCCAGCACGGAGCCTGGAG	0.682																																																	0									GLY/ARG	2,3928		0,2,1963	10.0	13.0	12.0		2821	-5.4	0.0	19		12	2,8108		0,2,4053	no	missense	RASAL3	NM_022904.1	125	0,4,6016	CC,CG,GG		0.0247,0.0509,0.0332	benign	941/1012	15563476	4,12036	1965	4055	6020	SO:0001583	missense	0				CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.2821C>G	19.37:g.15563476G>C	ENSP00000341905:p.Arg941Gly		Q8N2T9|Q9H735	Missense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RasGAP,pfscan_RasGAP	p.R941G	ENST00000343625.7	37	c.2821	CCDS46006.1	19	.	.	.	.	.	.	.	.	.	.	g	7.125	0.578770	0.13686	5.09E-4	2.47E-4	ENSG00000105122	ENST00000343625	D	0.82803	-1.65	3.54	-5.41	0.02648	.	0.794205	0.10550	N	0.661568	T	0.60248	0.2254	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45702	-0.9243	10	0.22706	T	0.39	.	2.312	0.04188	0.105:0.2855:0.3526:0.2569	.	941	Q86YV0	RASL3_HUMAN	G	941	ENSP00000341905:R941G	ENSP00000341905:R941G	R	-	1	0	RASAL3	15424476	0.000000	0.05858	0.004000	0.12327	0.014000	0.08584	-1.968000	0.01507	-1.061000	0.03185	-2.977000	0.00080	CGT	RASAL3	-	NULL	ENSG00000105122		0.682	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASAL3	HGNC	protein_coding	OTTHUMT00000461331.3	-	0.00	36	0	G	NM_022904		15563476	-1	tier1	-	no_errors	ENST00000343625	ensembl	human	known	74_37	missense	20.00	32	8	SNP	0.002	C
RNF5	6048	genome.wustl.edu	37	6	32147865	32147865	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr6:32147865C>T	ENST00000375094.3	+	5	565	c.407C>T	c.(406-408)aCc>aTc	p.T136I	AGPAT1_ENST00000395497.1_5'Flank|AGPAT1_ENST00000336984.6_5'Flank|AGPAT1_ENST00000490711.1_5'Flank|RNF5_ENST00000427134.2_Missense_Mutation_p.T136I|AGPAT1_ENST00000375104.2_5'Flank	NM_006913.3	NP_008844.1	Q99942	RNF5_HUMAN	ring finger protein 5, E3 ubiquitin protein ligase	136					cellular protein catabolic process (GO:0044257)|ER-associated misfolded protein catabolic process (GO:0071712)|negative regulation of autophagy (GO:0010507)|protein destabilization (GO:0031648)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|regulation of autophagic vacuole assembly (GO:2000785)|response to bacterium (GO:0009617)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T136I(3)		endometrium(1)|lung(7)|urinary_tract(2)	10						TTTTTCACCACCGTCTTCAAT	0.557																																																	3	Substitution - Missense(3)	lung(3)											151.0	153.0	152.0					6																	32147865		1511	2709	4220	SO:0001583	missense	0			U89336	CCDS4745.1	6p21.31	2013-01-09	2012-02-23			ENSG00000204308		"""RING-type (C3HC4) zinc fingers"""	10068	protein-coding gene	gene with protein product		602677	"""ring finger protein 5"""			9533025	Standard	NM_006913		Approved	NG2, G16, RING5, RMA1	uc031snv.1	Q99942	OTTHUMG00000031093	ENST00000375094.3:c.407C>T	6.37:g.32147865C>T	ENSP00000364235:p.Thr136Ile		A2BFI6|B2R4K3|Q0VDB7|Q9UMQ2	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.T136I	ENST00000375094.3	37	c.407	CCDS4745.1	6	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403896	0.83230	.	.	ENSG00000204308	ENST00000375094;ENST00000427134	D;D	0.93604	-3.25;-3.25	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.86723	0.6001	L	0.47716	1.5	0.58432	D	0.999999	B	0.33345	0.409	B	0.27715	0.082	D	0.86266	0.1658	10	0.37606	T	0.19	-2.0092	16.9524	0.86249	0.0:1.0:0.0:0.0	.	136	Q99942	RNF5_HUMAN	I	136	ENSP00000364235:T136I;ENSP00000407656:T136I	ENSP00000364235:T136I	T	+	2	0	RNF5	32255843	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	6.897000	0.75671	2.666000	0.90696	0.655000	0.94253	ACC	RNF5	-	NULL	ENSG00000204308		0.557	RNF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF5	HGNC	protein_coding	OTTHUMT00000076133.2		0.00	21	0	C	NM_006913		32147865	+1			no_errors	ENST00000427134	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T
RPL11	6135	genome.wustl.edu	37	1	24021225	24021225	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr1:24021225G>T	ENST00000374550.3	+	4	385	c.340G>T	c.(340-342)Gat>Tat	p.D114Y	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	114					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		GGAACACATCGATCTGGGTAT	0.428																																																	0													153.0	147.0	149.0					1																	24021225		2203	4300	6503	SO:0001583	missense	0			L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"""L ribosomal proteins"""	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926	ENST00000374550.3:c.340G>T	1.37:g.24021225G>T	ENSP00000363676:p.Asp114Tyr		P25121|P39026|Q8TDH2|Q9Y674	Missense_Mutation	SNP	pfam_Ribosomal_L5,superfamily_Ribosomal_L5_domain,pirsf_Ribosomal_L5	p.D114Y	ENST00000374550.3	37	c.340	CCDS238.1	1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.695098	0.68386	.	.	ENSG00000142676	ENST00000374550;ENST00000443624;ENST00000458455	T;T;T	0.77229	-1.08;-1.08;-1.08	5.71	5.71	0.89125	Ribosomal protein L5 domain (2);	0.000000	0.85682	D	0.000000	D	0.92473	0.7610	H	0.98276	4.19	0.80722	D	1	P;P	0.45474	0.637;0.859	P;P	0.57548	0.624;0.823	D	0.94234	0.7479	10	0.59425	D	0.04	-12.9457	19.8621	0.96787	0.0:0.0:1.0:0.0	.	113;114	P62913-2;P62913	.;RL11_HUMAN	Y	114;112;112	ENSP00000363676:D114Y;ENSP00000390839:D112Y;ENSP00000398888:D112Y	ENSP00000363676:D114Y	D	+	1	0	RPL11	23893812	1.000000	0.71417	1.000000	0.80357	0.036000	0.12997	9.660000	0.98599	2.705000	0.92388	0.556000	0.70494	GAT	RPL11	-	pfam_Ribosomal_L5,superfamily_Ribosomal_L5_domain,pirsf_Ribosomal_L5	ENSG00000142676		0.428	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL11	HGNC	protein_coding	OTTHUMT00000008168.1	-	0.00	54	0	G	NM_000975		24021225	+1	tier1	-	no_errors	ENST00000374550	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T
RRP15	51018	genome.wustl.edu	37	1	218475671	218475671	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr1:218475671G>T	ENST00000366932.3	+	2	205	c.175G>T	c.(175-177)Gat>Tat	p.D59Y	RRP15_ENST00000491428.1_3'UTR	NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	59						mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)			ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		CTTTTATTCTGATGATGACGC	0.438																																																	0													135.0	138.0	137.0					1																	218475671		2203	4300	6503	SO:0001583	missense	0				CCDS1520.2	1q41	2008-02-05			ENSG00000067533	ENSG00000067533			24255	protein-coding gene	gene with protein product		611193	"""KIAA0507"""	KIAA0507		15769876	Standard	NM_016052		Approved	CGI-115	uc001hlj.3	Q9Y3B9	OTTHUMG00000039494	ENST00000366932.3:c.175G>T	1.37:g.218475671G>T	ENSP00000355899:p.Asp59Tyr			Missense_Mutation	SNP	pfam_DUF1665	p.D59Y	ENST00000366932.3	37	c.175	CCDS1520.2	1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326939	0.81690	.	.	ENSG00000067533	ENST00000366932	T	0.29142	1.58	5.27	3.23	0.37069	.	0.698537	0.14490	N	0.316389	T	0.29389	0.0732	L	0.27053	0.805	0.27991	N	0.935664	D	0.54397	0.966	P	0.49708	0.62	T	0.09015	-1.0694	10	0.26408	T	0.33	-12.4923	13.9091	0.63855	0.0:0.0:0.7174:0.2826	.	59	Q9Y3B9	RRP15_HUMAN	Y	59	ENSP00000355899:D59Y	ENSP00000355899:D59Y	D	+	1	0	RRP15	216542294	0.998000	0.40836	0.784000	0.31847	0.520000	0.34377	3.124000	0.50461	1.437000	0.47472	0.650000	0.86243	GAT	RRP15	-	NULL	ENSG00000067533		0.438	RRP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP15	HGNC	protein_coding	OTTHUMT00000095284.1		0.00	22	0	G	NM_016052		218475671	+1			no_errors	ENST00000366932	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.967	T
RYR1	6261	genome.wustl.edu	37	19	38957020	38957020	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr19:38957020C>T	ENST00000359596.3	+	24	3160	c.3160C>T	c.(3160-3162)Cct>Tct	p.P1054S	RYR1_ENST00000355481.4_Missense_Mutation_p.P1054S|RYR1_ENST00000360985.3_Missense_Mutation_p.P1054S			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1054	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.P1054S(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CAACATCGAGCCTCCTGACCA	0.662																																																	1	Substitution - Missense(1)	large_intestine(1)											19.0	18.0	19.0					19																	38957020		2166	4250	6416	SO:0001583	missense	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3160C>T	19.37:g.38957020C>T	ENSP00000352608:p.Pro1054Ser		Q16314|Q16368|Q9NPK1|Q9P1U4	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,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.P1054S	ENST00000359596.3	37	c.3160	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	c	7.865	0.726928	0.15439	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.91068	-2.78;-2.78;-2.78	2.94	2.94	0.34122	B30.2/SPRY domain (1);Ryanodine receptor Ryr (1);	0.000000	0.64402	U	0.000002	D	0.93468	0.7916	M	0.66378	2.025	0.46654	D	0.999144	D;D	0.76494	0.999;0.973	D;D	0.68943	0.961;0.932	D	0.92378	0.5911	10	0.33141	T	0.24	.	14.7726	0.69691	0.0:1.0:0.0:0.0	.	1054;1054	P21817-2;P21817	.;RYR1_HUMAN	S	1054	ENSP00000352608:P1054S;ENSP00000347667:P1054S;ENSP00000354254:P1054S	ENSP00000347667:P1054S	P	+	1	0	RYR1	43648860	1.000000	0.71417	0.981000	0.43875	0.504000	0.33889	2.448000	0.44926	1.988000	0.58038	0.444000	0.29173	CCT	RYR1	-	pfam_Ryanodine_rcpt,pfscan_B30.2/SPRY	ENSG00000196218		0.662	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1		0.00	13	0	C			38957020	+1			no_errors	ENST00000359596	ensembl	human	known	74_37	missense	10.53	17	2	SNP	1.000	T
SCG5	6447	genome.wustl.edu	37	15	32983947	32983947	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr15:32983947G>A	ENST00000300175.4	+	5	636	c.526G>A	c.(526-528)Gag>Aag	p.E176K	SCG5_ENST00000494364.1_Intron|SCG5_ENST00000497208.1_Intron|SCG5_ENST00000413748.2_Missense_Mutation_p.E175K|SCG5_ENST00000498069.1_3'UTR	NM_001144757.1	NP_001138229.1	P05408	7B2_HUMAN	secretogranin V (7B2 protein)	176					intracellular protein transport (GO:0006886)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|regulation of hormone secretion (GO:0046883)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	enzyme inhibitor activity (GO:0004857)|GTP binding (GO:0005525)|unfolded protein binding (GO:0051082)			lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	6		all_lung(180;7.32e-08)		all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212)		GAAGGGAGGAGAGAGACGAAA	0.468																																																	0													112.0	122.0	119.0					15																	32983947		1968	4146	6114	SO:0001583	missense	0			Y00757	CCDS45207.1, CCDS45208.1	15q13-q14	2006-03-20	2006-03-20	2006-03-20	ENSG00000166922	ENSG00000166922			10816	protein-coding gene	gene with protein product	"""prohormone convertase chaperone"""	173120	"""secretory granule, neuroendocrine protein 1 (7B2 protein)"""	SGNE1		8162254, 12646671	Standard	NM_003020		Approved	7B2, SgV	uc001zha.2	P05408	OTTHUMG00000159447	ENST00000300175.4:c.526G>A	15.37:g.32983947G>A	ENSP00000300175:p.Glu176Lys		P01164|Q6FHD0|Q9BS38	Missense_Mutation	SNP	pfam_Secretogranin_V	p.E176K	ENST00000300175.4	37	c.526	CCDS45207.1	15	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689391	0.29962	.	.	ENSG00000166922	ENST00000300175;ENST00000413748;ENST00000471027	.	.	.	5.08	3.16	0.36331	.	0.394418	0.30630	N	0.009215	T	0.35422	0.0931	N	0.12182	0.205	0.80722	D	1	B;B	0.12013	0.005;0.005	B;B	0.15870	0.014;0.014	T	0.20672	-1.0268	9	0.06236	T	0.91	.	15.2102	0.73219	0.0:0.7208:0.2792:0.0	.	176;175	P05408;Q6FHD0	7B2_HUMAN;.	K	176;175;166	.	ENSP00000300175:E176K	E	+	1	0	SCG5	30771239	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.550000	0.53691	0.808000	0.34231	-0.165000	0.13383	GAG	SCG5	-	pfam_Secretogranin_V	ENSG00000166922		0.468	SCG5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCG5	HGNC	protein_coding	OTTHUMT00000355438.1	-	0.00	139	0	G	NM_003020		32983947	+1	tier1	-	no_errors	ENST00000300175	ensembl	human	known	74_37	missense	29.90	68	29	SNP	1.000	A
RYR3	6263	genome.wustl.edu	37	15	33955773	33955773	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr15:33955773G>C	ENST00000389232.4	+	36	5524	c.5454G>C	c.(5452-5454)gaG>gaC	p.E1818D	RYR3_ENST00000415757.3_Missense_Mutation_p.E1818D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1818	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCGACTGTGAGCTGCAGCACC	0.483																																																	0													58.0	57.0	57.0					15																	33955773		2038	4201	6239	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5454G>C	15.37:g.33955773G>C	ENSP00000373884:p.Glu1818Asp		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,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,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.E1818D	ENST00000389232.4	37	c.5454	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	14.45	2.539614	0.45176	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.74106	-0.81;-0.81	5.27	2.17	0.27698	.	0.000000	0.85682	D	0.000000	T	0.76463	0.3991	L	0.56769	1.78	0.41927	D	0.990542	P;D	0.54964	0.48;0.969	B;P	0.54706	0.256;0.759	T	0.76394	-0.2975	10	0.59425	D	0.04	.	9.2014	0.37260	0.3891:0.0:0.6109:0.0	.	1818;1818	Q15413-2;Q15413	.;RYR3_HUMAN	D	1818	ENSP00000373884:E1818D;ENSP00000399610:E1818D	ENSP00000354735:E1818D	E	+	3	2	RYR3	31743065	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.773000	0.47686	0.774000	0.33427	0.561000	0.74099	GAG	RYR3	-	NULL	ENSG00000198838		0.483	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0.00	42	0	G			33955773	+1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	29.73	26	11	SNP	1.000	C
SCN3B	55800	genome.wustl.edu	37	11	123524453	123524453	+	Splice_Site	SNP	A	A	G			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr11:123524453A>G	ENST00000392770.2	-	1	858		c.e1+1		SCN3B_ENST00000530277.1_Splice_Site|SCN3B_ENST00000299333.3_Splice_Site	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit						atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	GCTGGTACTTACCCCAGTAGA	0.502																																																	0													205.0	206.0	205.0					11																	123524453		2202	4299	6501	SO:0001630	splice_region_variant	0			AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	20665	protein-coding gene	gene with protein product		608214	"""sodium channel, voltage-gated, type III, beta"""			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.55+1T>C	11.37:g.123524453A>G			A5H1I5|Q17RL3|Q9ULR2	Splice_Site	SNP	-	e1+2	ENST00000392770.2	37	c.55+2	CCDS8442.1	11	.	.	.	.	.	.	.	.	.	.	A	17.60	3.430373	0.62844	.	.	ENSG00000166257	ENST00000392770;ENST00000299333;ENST00000530277;ENST00000527836;ENST00000528267	.	.	.	4.97	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.93	0.35663	0.812:0.188:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCN3B	123029663	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.185000	0.58330	0.802000	0.34089	0.482000	0.46254	.	SCN3B	-	-	ENSG00000166257		0.502	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN3B	HGNC	protein_coding	OTTHUMT00000387412.1	-	0.00	36	0	A	NM_018400	Intron	123524453	-1	tier1	-	no_errors	ENST00000299333	ensembl	human	known	74_37	splice_site	8.16	45	4	SNP	1.000	G
SEC23B	10483	genome.wustl.edu	37	20	18541329	18541329	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr20:18541329G>T	ENST00000336714.3	+	20	2681	c.2249G>T	c.(2248-2250)aGc>aTc	p.S750I	SEC23B_ENST00000377465.1_Missense_Mutation_p.S750I|SEC23B_ENST00000262544.2_Missense_Mutation_p.S750I|SEC23B_ENST00000377475.3_Missense_Mutation_p.S750I	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	750					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						GATGATGTTAGCCTGCAGGTG	0.433																																																	0													160.0	142.0	148.0					20																	18541329		2203	4300	6503	SO:0001583	missense	0			X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.2249G>T	20.37:g.18541329G>T	ENSP00000338844:p.Ser750Ile		D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Gelsolin_dom,pfam_Znf_Sec23_Sec24,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.S750I	ENST00000336714.3	37	c.2249	CCDS13137.1	20	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903052	0.92035	.	.	ENSG00000101310	ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465;ENST00000422877	D;D;D;D;D	0.95656	-3.77;-3.77;-3.77;-3.77;-3.77	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.98359	0.9455	H	0.94698	3.57	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75020	0.985;0.98	D	0.99264	1.0891	10	0.87932	D	0	-11.9342	17.7497	0.88430	0.0:0.0:1.0:0.0	.	732;750	B4DJW8;Q15437	.;SC23B_HUMAN	I	750;750;750;750;229	ENSP00000338844:S750I;ENSP00000262544:S750I;ENSP00000366695:S750I;ENSP00000366685:S750I;ENSP00000409882:S229I	ENSP00000262544:S750I	S	+	2	0	SEC23B	18489329	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.569000	0.98170	2.733000	0.93635	0.655000	0.94253	AGC	SEC23B	-	NULL	ENSG00000101310		0.433	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEC23B	HGNC	protein_coding	OTTHUMT00000078184.5	-	0.00	70	0	G			18541329	+1	tier1	-	no_errors	ENST00000262544	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T
SEMA6D	80031	genome.wustl.edu	37	15	48055281	48055281	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr15:48055281G>A	ENST00000316364.5	+	9	1166	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	SEMA6D_ENST00000537942.1_Missense_Mutation_p.E243K|SEMA6D_ENST00000354744.4_Missense_Mutation_p.E243K|SEMA6D_ENST00000389432.2_Missense_Mutation_p.E243K|SEMA6D_ENST00000558816.1_Missense_Mutation_p.E243K|SEMA6D_ENST00000389428.3_Missense_Mutation_p.E243K|SEMA6D_ENST00000355997.3_Missense_Mutation_p.E243K|SEMA6D_ENST00000558014.1_Missense_Mutation_p.E243K|SEMA6D_ENST00000536845.2_Missense_Mutation_p.E243K|SEMA6D_ENST00000389425.3_Missense_Mutation_p.E243K|SEMA6D_ENST00000389433.2_Missense_Mutation_p.E243K|SEMA6D_ENST00000358066.4_Missense_Mutation_p.E243K	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	243	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AATCGCTGTCGAACATAATAA	0.363																																																	0													81.0	77.0	79.0					15																	48055281		2197	4295	6492	SO:0001583	missense	0			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.727G>A	15.37:g.48055281G>A	ENSP00000324857:p.Glu243Lys		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_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	p.E243K	ENST00000316364.5	37	c.727	CCDS32225.1	15	.	.	.	.	.	.	.	.	.	.	G	35	5.441614	0.96187	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65;1.65;1.65;1.65;1.65;1.65	5.8	5.8	0.92144	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.71022	0.3291	H	0.96547	3.84	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	0.87578	0.995;0.996;0.997;0.998;0.993	T	0.80294	-0.1443	10	0.87932	D	0	.	20.0706	0.97721	0.0:0.0:1.0:0.0	.	243;243;243;243;243	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	K	243	ENSP00000442040:E243K;ENSP00000446152:E243K;ENSP00000324857:E243K;ENSP00000374084:E243K;ENSP00000374083:E243K;ENSP00000346786:E243K;ENSP00000350770:E243K;ENSP00000374079:E243K;ENSP00000348276:E243K;ENSP00000374076:E243K	ENSP00000324857:E243K	E	+	1	0	SEMA6D	45842573	1.000000	0.71417	0.986000	0.45419	0.650000	0.38633	9.476000	0.97823	2.744000	0.94065	0.655000	0.94253	GAA	SEMA6D	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000137872		0.363	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA6D	HGNC	protein_coding	OTTHUMT00000416868.1	-	0.00	24	0	G	NM_024966		48055281	+1	tier1	-	no_errors	ENST00000316364	ensembl	human	known	74_37	missense	34.38	21	11	SNP	1.000	A
SENP7	57337	genome.wustl.edu	37	3	101056352	101056352	+	Splice_Site	SNP	C	C	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr3:101056352C>T	ENST00000394095.2	-	17	2534		c.e17+1		SENP7_ENST00000348610.3_Splice_Site|SENP7_ENST00000358203.3_Splice_Site|SENP7_ENST00000394091.1_Splice_Site|SENP7_ENST00000394094.2_Splice_Site|SENP7_ENST00000314261.7_Splice_Site	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7							intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GATTAACTTACGAAAGATTTG	0.303																																																	0													43.0	45.0	44.0					3																	101056352		2202	4294	6496	SO:0001630	splice_region_variant	0				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.2480+1G>A	3.37:g.101056352C>T			A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Splice_Site	SNP	-	e17+1	ENST00000394095.2	37	c.2480+1	CCDS2941.2	3	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330495	0.81690	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5732	0.87941	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SENP7	102539042	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.603000	0.74145	2.674000	0.91012	0.655000	0.94253	.	SENP7	-	-	ENSG00000138468		0.303	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP7	HGNC	protein_coding	OTTHUMT00000313957.2	-	0.00	50	0	C	NM_020654	Intron	101056352	-1	tier1	-	no_errors	ENST00000394095	ensembl	human	known	74_37	splice_site	40.91	26	18	SNP	1.000	T
SLC17A6	57084	genome.wustl.edu	37	11	22391642	22391642	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr11:22391642G>T	ENST00000263160.3	+	8	1386	c.949G>T	c.(949-951)Gtt>Ttt	p.V317F		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	317					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TGCAATAATTGTTGCAAACTT	0.328																																																	0													73.0	72.0	72.0					11																	22391642		2202	4295	6497	SO:0001583	missense	0			AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.949G>T	11.37:g.22391642G>T	ENSP00000263160:p.Val317Phe		A6NKS2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.V317F	ENST00000263160.3	37	c.949	CCDS7856.1	11	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002539	0.93227	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.59364	0.27	5.42	5.42	0.78866	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.055975	0.64402	D	0.000001	T	0.77471	0.4135	M	0.75884	2.315	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78856	-0.2039	10	0.66056	D	0.02	.	19.5581	0.95361	0.0:0.0:1.0:0.0	.	317	Q9P2U8	VGLU2_HUMAN	F	317;205	ENSP00000263160:V317F	ENSP00000263160:V317F	V	+	1	0	SLC17A6	22348218	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	9.813000	0.99286	2.702000	0.92279	0.591000	0.81541	GTT	SLC17A6	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000091664		0.328	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A6	HGNC	protein_coding	OTTHUMT00000387671.1	-	0.00	37	0	G	NM_020346		22391642	+1	tier1	-	no_errors	ENST00000263160	ensembl	human	known	74_37	missense	9.62	47	5	SNP	1.000	T
SLC17A9	63910	genome.wustl.edu	37	20	61591862	61591862	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr20:61591862A>C	ENST00000370351.4	+	4	535	c.404A>C	c.(403-405)tAc>tCc	p.Y135S	SLC17A9_ENST00000370349.3_Missense_Mutation_p.Y129S|SLC17A9_ENST00000488738.1_3'UTR	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	135					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						GCAGGGGTTTACTTCCCTGCC	0.617																																																	0													43.0	54.0	50.0					20																	61591862		2025	4180	6205	SO:0001583	missense	0			AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"""Solute carriers"""	16192	protein-coding gene	gene with protein product		612107	"""chromosome 20 open reading frame 59"", ""solute carrier family 17, member 9"""	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.404A>C	20.37:g.61591862A>C	ENSP00000359376:p.Tyr135Ser		B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.Y135S	ENST00000370351.4	37	c.404	CCDS42901.1	20	.	.	.	.	.	.	.	.	.	.	A	15.10	2.733914	0.48939	.	.	ENSG00000101194	ENST00000370351;ENST00000370349	T;T	0.56275	0.47;0.47	4.13	2.99	0.34606	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.061220	0.64402	D	0.000003	T	0.49575	0.1565	N	0.26042	0.785	0.45914	D	0.998756	P;P;P	0.47677	0.899;0.814;0.551	P;P;P	0.57960	0.83;0.735;0.617	T	0.30031	-0.9992	10	0.15499	T	0.54	.	9.8701	0.41168	0.8467:0.0:0.0:0.1533	.	155;135;129	B4DPU8;Q9BYT1;Q9BYT1-2	.;S17A9_HUMAN;.	S	135;129	ENSP00000359376:Y135S;ENSP00000359374:Y129S	ENSP00000359374:Y129S	Y	+	2	0	SLC17A9	61062307	1.000000	0.71417	0.919000	0.36401	0.456000	0.32438	5.039000	0.64185	0.532000	0.28657	0.402000	0.26972	TAC	SLC17A9	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000101194		0.617	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A9	HGNC	protein_coding	OTTHUMT00000080100.1	-	0.00	31	0	A	NM_022082		61591862	+1	tier1	-	no_errors	ENST00000370351	ensembl	human	known	74_37	missense	26.67	33	12	SNP	0.999	C
SLITRK1	114798	genome.wustl.edu	37	13	84454447	84454447	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr13:84454447T>G	ENST00000377084.2	-	1	2081	c.1196A>C	c.(1195-1197)aAg>aCg	p.K399T		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	399					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)		AATGAGGTTCTTGTAATCCAC	0.448																																																	0													213.0	208.0	210.0					13																	84454447		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.1196A>C	13.37:g.84454447T>G	ENSP00000366288:p.Lys399Thr		Q5U5I6|Q96SF9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.K399T	ENST00000377084.2	37	c.1196	CCDS9464.1	13	.	.	.	.	.	.	.	.	.	.	T	0.986	-0.695494	0.03279	.	.	ENSG00000178235	ENST00000377084	T	0.50813	0.73	5.23	4.1	0.47936	.	0.436137	0.24592	N	0.037220	T	0.16171	0.0389	N	0.02202	-0.64	0.30338	N	0.785997	B	0.02656	0.0	B	0.01281	0.0	T	0.12268	-1.0554	10	0.13470	T	0.59	-14.2948	1.9179	0.03301	0.2652:0.1748:0.0:0.56	.	399	Q96PX8	SLIK1_HUMAN	T	399	ENSP00000366288:K399T	ENSP00000366288:K399T	K	-	2	0	SLITRK1	83352448	0.985000	0.35326	1.000000	0.80357	0.998000	0.95712	1.289000	0.33307	1.985000	0.57927	0.459000	0.35465	AAG	SLITRK1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000178235		0.448	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1		0.00	15	0	T	NM_052910		84454447	-1			no_errors	ENST00000377084	ensembl	human	known	74_37	missense	61.90	8	13	SNP	1.000	G
SLITRK1	114798	genome.wustl.edu	37	13	84454489	84454489	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr13:84454489T>G	ENST00000377084.2	-	1	2039	c.1154A>C	c.(1153-1155)aAc>aCc	p.N385T		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	385					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)		GTGGATCTTGTTATCTCGTAG	0.458																																																	0													138.0	133.0	135.0					13																	84454489		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.1154A>C	13.37:g.84454489T>G	ENSP00000366288:p.Asn385Thr		Q5U5I6|Q96SF9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.N385T	ENST00000377084.2	37	c.1154	CCDS9464.1	13	.	.	.	.	.	.	.	.	.	.	T	16.80	3.221830	0.58560	.	.	ENSG00000178235	ENST00000377084	T	0.69175	-0.38	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.78110	0.4232	L	0.54323	1.7	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.80377	-0.1408	10	0.87932	D	0	-14.4125	14.206	0.65734	0.0:0.0:0.0:1.0	.	385	Q96PX8	SLIK1_HUMAN	T	385	ENSP00000366288:N385T	ENSP00000366288:N385T	N	-	2	0	SLITRK1	83352490	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.042000	0.60477	0.454000	0.30748	AAC	SLITRK1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000178235		0.458	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1		0.00	12	0	T	NM_052910		84454489	-1			no_errors	ENST00000377084	ensembl	human	known	74_37	missense	50.00	6	6	SNP	1.000	G
SRGAP2-AS1	100873165	genome.wustl.edu	37	1	206553834	206553835	+	RNA	INS	-	-	T	rs529950543	byFrequency	TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr1:206553834_206553835insT	ENST00000450872.1	-	0	561_562									SRGAP2 antisense RNA 1																		ATTTAGGCATCTTTTTTTTTTT	0.361													|||unknown(HR)	28	0.00559105	0.0061	0.0	5008	,	,		17750	0.0188		0.0	False		,,,				2504	0.001																0																																												0			AK127439		1q32.1	2012-10-12	2012-08-15		ENSG00000233501	ENSG00000233501		"""Long non-coding RNAs"""	40902	non-coding RNA	RNA, long non-coding			"""SRGAP2 antisense RNA 1 (non-protein coding)"""				Standard	NR_104189		Approved				OTTHUMG00000036348		1.37:g.206553845_206553845dupT				RNA	INS	-	NULL	ENST00000450872.1	37	NULL		1																																																																																			SRGAP2-AS1	-	-	ENSG00000233501		0.361	SRGAP2-AS1-001	KNOWN	basic	antisense	SRGAP2-AS1	HGNC	antisense	OTTHUMT00000088497.1		0.00	37	0	0			206553835	-1			no_errors	ENST00000450872	ensembl	human	known	74_37	rna	12.07	51	7	INS	0.918:0.853	T
SYDE1	85360	genome.wustl.edu	37	19	15221361	15221361	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr19:15221361C>A	ENST00000342784.2	+	4	1136	c.1105C>A	c.(1105-1107)Ctg>Atg	p.L369M	SYDE1_ENST00000600252.1_Missense_Mutation_p.L26M|SYDE1_ENST00000600440.1_Missense_Mutation_p.L302M	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	369					activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						GGCCGTGCGCCTGGAGCCTCA	0.677																																																	0													9.0	9.0	9.0					19																	15221361		2155	4227	6382	SO:0001583	missense	0			BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.1105C>A	19.37:g.15221361C>A	ENSP00000341489:p.Leu369Met		Q7L2I8|Q8N6J2|Q9H8K4	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L369M	ENST00000342784.2	37	c.1105	CCDS12324.1	19	.	.	.	.	.	.	.	.	.	.	c	17.55	3.418619	0.62622	.	.	ENSG00000105137	ENST00000342784	T	0.18810	2.19	4.82	4.82	0.62117	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.53938	D	0.000053	T	0.38401	0.1039	L	0.58510	1.815	0.51767	D	0.99993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.07770	-1.0755	10	0.41790	T	0.15	.	9.1022	0.36676	0.0:0.899:0.0:0.101	.	302;302;369	B2RD93;Q6ZW31-2;Q6ZW31	.;.;SYDE1_HUMAN	M	369	ENSP00000341489:L369M	ENSP00000341489:L369M	L	+	1	2	SYDE1	15082361	0.901000	0.30685	0.998000	0.56505	0.781000	0.44180	1.783000	0.38664	2.231000	0.72958	0.486000	0.48141	CTG	SYDE1	-	superfamily_C2_dom	ENSG00000105137		0.677	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE1	HGNC	protein_coding	OTTHUMT00000465666.1		0.00	12	0	C	NM_033025		15221361	+1			no_errors	ENST00000342784	ensembl	human	known	74_37	missense	33.33	6	3	SNP	1.000	A
SYNE1	23345	genome.wustl.edu	37	6	152652741	152652741	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr6:152652741G>T	ENST00000367255.5	-	78	13680	c.13079C>A	c.(13078-13080)gCa>gAa	p.A4360E	SYNE1_ENST00000265368.4_Missense_Mutation_p.A4360E|SYNE1_ENST00000341594.5_Missense_Mutation_p.A4225E|SYNE1_ENST00000423061.1_Missense_Mutation_p.A4289E|SYNE1_ENST00000448038.1_Missense_Mutation_p.A4289E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4360					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGCTCTTCTGCCCACTCCAT	0.502										HNSCC(10;0.0054)																																							0													148.0	143.0	145.0					6																	152652741		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.13079C>A	6.37:g.152652741G>T	ENSP00000356224:p.Ala4360Glu		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.A4360E	ENST00000367255.5	37	c.13079	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	13.37	2.216206	0.39201	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33	5.84	4.98	0.66077	.	0.000000	0.64402	D	0.000014	T	0.48259	0.1490	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.76575	0.959;0.976;0.976;0.988	T	0.54503	-0.8284	10	0.66056	D	0.02	.	15.2154	0.73261	0.0671:0.0:0.9329:0.0	.	4360;4360;4360;4289	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	E	4360;4289;4360;4289;4225	ENSP00000356224:A4360E;ENSP00000396024:A4289E;ENSP00000265368:A4360E;ENSP00000390975:A4289E;ENSP00000341887:A4225E	ENSP00000265368:A4360E	A	-	2	0	SYNE1	152694434	1.000000	0.71417	0.923000	0.36655	0.891000	0.51852	5.838000	0.69388	1.489000	0.48450	-0.119000	0.15052	GCA	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.502	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0.00	64	0	G	NM_182961		152652741	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	9.72	65	7	SNP	0.992	T
SZT2	23334	genome.wustl.edu	37	1	43887775	43887775	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr1:43887775G>T	ENST00000562955.1	+	12	1648	c.1648G>T	c.(1648-1650)Ggt>Tgt	p.G550C	SZT2_ENST00000372442.1_5'Flank	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	550					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCAGCCCAGTGGTTCTGACTC	0.542																																																	0													50.0	44.0	46.0					1																	43887775		876	1991	2867	SO:0001583	missense	0			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.1648G>T	1.37:g.43887775G>T	ENSP00000457168:p.Gly550Cys		A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	NULL	p.G550C	ENST00000562955.1	37	c.1648	CCDS30694.2	1																																																																																			SZT2	-	NULL	ENSG00000198198		0.542	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	HGNC	protein_coding	OTTHUMT00000019517.3		0.00	70	0	G	NM_015284		43887775	+1			no_errors	ENST00000562955	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T
TCAM1P	146771	genome.wustl.edu	37	17	61939715	61939715	+	RNA	SNP	C	C	A			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr17:61939715C>A	ENST00000478379.1	+	0	1486					NR_002947.2				testicular cell adhesion molecule 1, pseudogene																		ATGGAACACACGCTCGCCTGC	0.542																																																	0																																												0			AB026156		17q23.3	2013-09-26	2012-12-07	2010-03-12	ENSG00000240280	ENSG00000240280			30707	pseudogene	pseudogene		612756	"""testicular cell adhesion molecule 1 homolog (mouse)"", ""testicular cell adhesion molecule 1 homolog (mouse), pseudogene"""	TCAM1		11195349, 2744760, 19766163	Standard	NR_002947		Approved		uc031rdl.1		OTTHUMG00000154404		17.37:g.61939715C>A				RNA	SNP	-	NULL	ENST00000478379.1	37	NULL		17																																																																																			TCAM1P	-	-	ENSG00000240280		0.542	TCAM1P-002	KNOWN	basic	processed_transcript	TCAM1P	HGNC	pseudogene	OTTHUMT00000335083.1		0.00	58	0	C			61939715	+1			no_errors	ENST00000478379	ensembl	human	known	74_37	rna	8.33	43	4	SNP	0.037	A
TCAM1P	146771	genome.wustl.edu	37	17	61939720	61939720	+	RNA	SNP	G	G	A			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr17:61939720G>A	ENST00000478379.1	+	0	1491					NR_002947.2				testicular cell adhesion molecule 1, pseudogene																		ACACACGCTCGCCTGCGTCCC	0.547																																																	0																																												0			AB026156		17q23.3	2013-09-26	2012-12-07	2010-03-12	ENSG00000240280	ENSG00000240280			30707	pseudogene	pseudogene		612756	"""testicular cell adhesion molecule 1 homolog (mouse)"", ""testicular cell adhesion molecule 1 homolog (mouse), pseudogene"""	TCAM1		11195349, 2744760, 19766163	Standard	NR_002947		Approved		uc031rdl.1		OTTHUMG00000154404		17.37:g.61939720G>A				RNA	SNP	-	NULL	ENST00000478379.1	37	NULL		17																																																																																			TCAM1P	-	-	ENSG00000240280		0.547	TCAM1P-002	KNOWN	basic	processed_transcript	TCAM1P	HGNC	pseudogene	OTTHUMT00000335083.1		0.00	55	0	G			61939720	+1			no_errors	ENST00000478379	ensembl	human	known	74_37	rna	11.11	40	5	SNP	0.146	A
TENM4	26011	genome.wustl.edu	37	11	78387198	78387198	+	Splice_Site	SNP	C	C	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr11:78387198C>T	ENST00000278550.7	-	30	5957	c.5495G>A	c.(5494-5496)cGg>cAg	p.R1832Q		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1832					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										CTCGCTCACCCGCAGCCGGCG	0.637																																																	0													6.0	8.0	8.0					11																	78387198		1921	4027	5948	SO:0001630	splice_region_variant	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5496+1G>A	11.37:g.78387198C>T			A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.R1832Q	ENST00000278550.7	37	c.5495	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.701290	0.96812	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.90444	-2.67;0.7	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	D	0.95185	0.8439	M	0.81942	2.565	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.95183	0.8301	9	.	.	.	.	17.6814	0.88245	0.0:1.0:0.0:0.0	.	1832	Q6N022	TEN4_HUMAN	Q	1832;296	ENSP00000278550:R1832Q;ENSP00000431711:R296Q	.	R	-	2	0	ODZ4	78064846	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.630000	0.83225	2.468000	0.83385	0.650000	0.86243	CGG	TENM4	-	NULL	ENSG00000149256		0.637	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	-	0.00	43	0	C		Missense_Mutation	78387198	-1	tier1	-	no_errors	ENST00000278550	ensembl	human	known	74_37	missense	32.73	37	18	SNP	1.000	T
THAP9	79725	genome.wustl.edu	37	4	83821774	83821774	+	5'Flank	SNP	T	T	G			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr4:83821774T>G	ENST00000302236.5	+	0	0				SEC31A_ENST00000355196.2_5'Flank|THAP9-AS1_ENST00000504792.2_RNA|THAP9-AS1_ENST00000512932.1_RNA|THAP9-AS1_ENST00000508772.1_RNA|THAP9-AS1_ENST00000505028.1_RNA|THAP9-AS1_ENST00000503704.1_RNA|THAP9-AS1_ENST00000513581.1_RNA|THAP9-AS1_ENST00000504520.2_RNA|THAP9-AS1_ENST00000504718.1_RNA|THAP9-AS1_ENST00000509007.1_RNA|THAP9-AS1_ENST00000511271.1_RNA|THAP9-AS1_ENST00000504869.1_RNA|THAP9-AS1_ENST00000507660.1_RNA	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9						DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				CAACGTGGCCTGTCATTGGCT	0.607																																																	0																																										SO:0001631	upstream_gene_variant	0			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291		4.37:g.83821774T>G	Exception_encountered		B3KRE2|Q59AC9	RNA	SNP	-	NULL	ENST00000302236.5	37	NULL	CCDS3598.1	4																																																																																			THAP9-AS1	-	-	ENSG00000251022		0.607	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP9-AS1	HGNC	protein_coding	OTTHUMT00000252633.1	-	0.00	30	0	T	NM_024672		83821774	-1	tier1	-	no_errors	ENST00000504520	ensembl	human	known	74_37	rna	24.14	22	7	SNP	0.000	G
TIMELESS	8914	genome.wustl.edu	37	12	56827182	56827183	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr12:56827182_56827183delAC	ENST00000553532.1	-	5	561_562	c.411_412delGT	c.(409-414)ttgtatfs	p.Y138fs	TIMELESS_ENST00000554616.1_Frame_Shift_Del_p.Y138fs|TIMELESS_ENST00000229201.4_Frame_Shift_Del_p.Y138fs					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						AGCAGCTCATACAAGGTTTCAC	0.505																																																	0																																										SO:0001589	frameshift_variant	0			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.411_412delGT	12.37:g.56827182_56827183delAC	ENSP00000450607:p.Tyr138fs			Frame_Shift_Del	DEL	pfam_TIMELESS_C,pfam_Timeless	p.Y138fs	ENST00000553532.1	37	c.412_411	CCDS8918.1	12																																																																																			TIMELESS	-	pfam_Timeless	ENSG00000111602		0.505	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMELESS	HGNC	protein_coding	OTTHUMT00000409771.1		0.00	35	0	AC	NM_003920		56827183	-1	tier1		no_errors	ENST00000553532	ensembl	human	known	74_37	frame_shift_del	5.88	32	2	DEL	1.000:0.990	-
TMEM132A	54972	genome.wustl.edu	37	11	60694732	60694732	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr11:60694732C>G	ENST00000453848.2	+	2	315	c.157C>G	c.(157-159)Cta>Gta	p.L53V	RP11-881M11.4_ENST00000543907.1_RNA|TMEM132A_ENST00000005286.4_Missense_Mutation_p.L53V			Q24JP5	T132A_HUMAN	transmembrane protein 132A	53						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCTGGAGCTCCTAGACGCCCC	0.612																																																	0													59.0	66.0	64.0					11																	60694732		2203	4299	6502	SO:0001583	missense	0			AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.157C>G	11.37:g.60694732C>G	ENSP00000405823:p.Leu53Val		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	NULL	p.L53V	ENST00000453848.2	37	c.157	CCDS44618.1	11	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341098	0.41498	.	.	ENSG00000006118	ENST00000453848;ENST00000005286	T;T	0.06449	3.3;3.3	4.69	2.76	0.32466	.	0.479723	0.18869	N	0.128894	T	0.19046	0.0457	M	0.64404	1.975	0.32844	D	0.505761	D;D;D	0.76494	0.999;0.996;0.996	D;D;D	0.80764	0.994;0.986;0.986	T	0.12016	-1.0564	10	0.87932	D	0	.	9.9003	0.41344	0.0:0.8251:0.0:0.1749	.	42;53;53	Q24JP5-3;Q24JP5;Q24JP5-2	.;T132A_HUMAN;.	V	53	ENSP00000405823:L53V;ENSP00000005286:L53V	ENSP00000005286:L53V	L	+	1	2	TMEM132A	60451308	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.637000	0.37155	1.103000	0.41568	0.462000	0.41574	CTA	TMEM132A	-	NULL	ENSG00000006118		0.612	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	TMEM132A	HGNC	protein_coding	OTTHUMT00000396352.1		0.00	17	0	C	NM_017870		60694732	+1			no_errors	ENST00000005286	ensembl	human	known	74_37	missense	25.00	15	5	SNP	1.000	G
TMEM2	23670	genome.wustl.edu	37	9	74300725	74300725	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr9:74300725G>T	ENST00000377044.4	-	23	4428	c.3889C>A	c.(3889-3891)Cag>Aag	p.Q1297K	TMEM2_ENST00000396272.3_Missense_Mutation_p.Q290K|TMEM2_ENST00000377066.5_Missense_Mutation_p.Q1234K	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1297					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ATGTTTAACTGCTTTATTTCT	0.353																																																	0													144.0	132.0	136.0					9																	74300725		2203	4300	6503	SO:0001583	missense	0				CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.3889C>A	9.37:g.74300725G>T	ENSP00000366243:p.Gln1297Lys		A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence	p.Q1297K	ENST00000377044.4	37	c.3889	CCDS6638.1	9	.	.	.	.	.	.	.	.	.	.	G	0.325	-0.959323	0.02267	.	.	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000396272	T;T;T	0.72051	-0.62;-0.55;2.62	5.66	3.62	0.41486	.	0.798902	0.11840	N	0.524367	T	0.51517	0.1679	L	0.29908	0.895	0.21984	N	0.999439	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.32268	-0.9913	10	0.15952	T	0.53	.	3.1084	0.06350	0.093:0.14:0.5188:0.2482	.	1297;1234	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	K	1297;1234;290	ENSP00000366243:Q1297K;ENSP00000366266:Q1234K;ENSP00000379569:Q290K	ENSP00000366243:Q1297K	Q	-	1	0	TMEM2	73490545	0.014000	0.17966	0.999000	0.59377	0.952000	0.60782	0.814000	0.27239	1.339000	0.45563	0.563000	0.77884	CAG	TMEM2	-	NULL	ENSG00000135048		0.353	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM2	HGNC	protein_coding	OTTHUMT00000052618.2	-	0.00	79	0	G	NM_013390		74300725	-1	tier1	-	no_errors	ENST00000377044	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.755	T
TP53	7157	genome.wustl.edu	37	17	7577515	7577517	+	In_Frame_Del	DEL	TGA	TGA	-	rs587781433		TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	TGA	TGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr17:7577515_7577517delTGA	ENST00000269305.4	-	7	953_955	c.764_766delTCA	c.(763-768)atcaca>aca	p.I255del	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_In_Frame_Del_p.I255del|TP53_ENST00000445888.2_In_Frame_Del_p.I255del|TP53_ENST00000455263.2_In_Frame_Del_p.I255del|TP53_ENST00000420246.2_In_Frame_Del_p.I255del|TP53_ENST00000413465.2_In_Frame_Del_p.I255del	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	255	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> 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.I255S(10)|p.0?(8)|p.I255N(7)|p.I255del(7)|p.I255T(7)|p.T256A(3)|p.T256fs*89(3)|p.T256fs*8(2)|p.T256S(2)|p.I255I(2)|p.I255fs*8(1)|p.?(1)|p.I254fs*7(1)|p.I255M(1)|p.T256fs*90(1)|p.T256P(1)|p.T256del(1)|p.R249_T256delRPILTIIT(1)|p.T256fs*87(1)|p.T256fs*17(1)|p.I254_T256del(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)	TCTTCCAGTGTGATGATGGTGAG	0.586		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"""	62	Substitution - Missense(31)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(4)|Substitution - coding silent(2)|Unknown(1)	breast(15)|ovary(7)|pancreas(6)|central_nervous_system(5)|bone(5)|upper_aerodigestive_tract(4)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|urinary_tract(3)|oesophagus(3)|lung(3)|thyroid(1)|stomach(1)|liver(1)|endometrium(1)|skin(1)																																								SO:0001651	inframe_deletion	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.764_766delTCA	17.37:g.7577518_7577520delTGA	ENSP00000269305:p.Ile255del		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	In_Frame_Del	DEL	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.I255in_frame_del	ENST00000269305.4	37	c.766_764	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.586	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0.00	216	0	TGA	NM_000546		7577517	-1	tier1		no_errors	ENST00000269305	ensembl	human	known	74_37	in_frame_del	41.67	119	85	DEL	1.000:1.000:1.000	-
TRAPPC8	22878	genome.wustl.edu	37	18	29522914	29522914	+	5'UTR	DEL	C	C	-			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr18:29522914delC	ENST00000283351.4	-	0	149				TRAPPC8_ENST00000582513.1_5'UTR|TRAPPC8_ENST00000582539.1_Splice_Site|RP11-326K13.4_ENST00000580420.1_RNA|TRAPPC8_ENST00000584876.1_5'UTR	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8						vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AATCCACTGACCCCCCCCTTC	0.677																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.-187G>-	18.37:g.29522914delC			A0JP15|B3KME5|Q9H0L2	Splice_Site	DEL	-	e0+1	ENST00000283351.4	37	c.1+1	CCDS11901.1	18																																																																																			TRAPPC8	-	-	ENSG00000153339		0.677	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	TRAPPC8	HGNC	protein_coding	OTTHUMT00000255355.1		0.00	42	0	C	NM_014939		29522914	-1	tier1		no_errors	ENST00000582539	ensembl	human	putative	74_37	splice_site_del	12.00	22	3	DEL	0.006	-
UGGT1	56886	genome.wustl.edu	37	2	128936114	128936114	+	Silent	SNP	A	A	G			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr2:128936114A>G	ENST00000259253.6	+	34	3833	c.3786A>G	c.(3784-3786)gcA>gcG	p.A1262A	UGGT1_ENST00000375990.3_Silent_p.A1238A	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1262	Glucosyltransferase. {ECO:0000250}.				'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TCTCCGTTGCATCTGGTCATC	0.348																																																	0													123.0	128.0	126.0					2																	128936114		2203	4300	6503	SO:0001819	synonymous_variant	0			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.3786A>G	2.37:g.128936114A>G			Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Silent	SNP	pfam_UDP-g_GGtrans	p.A1262	ENST00000259253.6	37	c.3786	CCDS2154.1	2																																																																																			UGGT1	-	NULL	ENSG00000136731		0.348	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT1	HGNC	protein_coding	OTTHUMT00000254435.2	-	0.00	30	0	A	NM_020120		128936114	+1	tier1	-	no_errors	ENST00000259253	ensembl	human	known	74_37	silent	29.17	34	14	SNP	0.965	G
VPS13C	54832	genome.wustl.edu	37	15	62244056	62244056	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr15:62244056T>G	ENST00000261517.5	-	39	4496	c.4423A>C	c.(4423-4425)Aaa>Caa	p.K1475Q	VPS13C_ENST00000249837.3_Missense_Mutation_p.K1432Q|VPS13C_ENST00000395898.3_Missense_Mutation_p.K1432Q|VPS13C_ENST00000395896.4_Missense_Mutation_p.K1475Q	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTAATTTTTTTTAGATAAGCT	0.338																																																	0													124.0	127.0	126.0					15																	62244056		2202	4300	6502	SO:0001583	missense	0			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.4423A>C	15.37:g.62244056T>G	ENSP00000261517:p.Lys1475Gln			Missense_Mutation	SNP	pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.K1475Q	ENST00000261517.5	37	c.4423	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	T	12.90	2.077718	0.36662	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.23552	1.9;1.9;1.9	5.19	2.75	0.32379	.	0.494480	0.20500	N	0.091120	T	0.24967	0.0606	L	0.43923	1.385	0.40432	D	0.979955	P;P;P;P	0.49253	0.507;0.507;0.537;0.921	P;B;B;B	0.44732	0.459;0.361;0.361;0.33	T	0.01661	-1.1301	10	0.41790	T	0.15	.	11.6049	0.51026	0.0:0.0:0.2832:0.7168	.	1432;1475;1432;1475	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	Q	1432;1475;1475;1475	ENSP00000249837:K1432Q;ENSP00000261517:K1475Q;ENSP00000379233:K1475Q	ENSP00000249837:K1432Q	K	-	1	0	VPS13C	60031348	0.595000	0.26857	0.002000	0.10522	0.394000	0.30568	2.248000	0.43160	0.262000	0.21774	0.533000	0.62120	AAA	VPS13C	-	NULL	ENSG00000129003		0.338	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1		0.00	30	0	T	NM_017684		62244056	-1			no_errors	ENST00000261517	ensembl	human	known	74_37	missense	5.66	50	3	SNP	0.794	G
VSX2	338917	genome.wustl.edu	37	14	74726375	74726375	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr14:74726375C>T	ENST00000261980.2	+	4	740	c.650C>T	c.(649-651)gCg>gTg	p.A217V		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	217	CVC. {ECO:0000255|PROSITE- ProRule:PRU00829}.				cell fate commitment (GO:0045165)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		AGTGTCATGGCGGAGTATGGG	0.627																																																	0													135.0	111.0	119.0					14																	74726375		2203	4300	6503	SO:0001583	missense	0			AC005519	CCDS9827.1	14q24.3	2011-06-20	2007-08-21	2007-08-21		ENSG00000119614		"""Homeoboxes / PRD class"""	1975	protein-coding gene	gene with protein product		142993	"""C elegans ceh-10 homeo domain-containing homolog"", ""ceh-10 homeo domain containing homolog (C. elegans)"", ""ceh-10 homeodomain containing homolog (C. elegans)"""	HOX10, CHX10		1973146	Standard	NM_182894		Approved	RET1	uc001xpq.3	P58304		ENST00000261980.2:c.650C>T	14.37:g.74726375C>T	ENSP00000261980:p.Ala217Val		A1A4X6	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom	p.A217V	ENST00000261980.2	37	c.650	CCDS9827.1	14	.	.	.	.	.	.	.	.	.	.	C	35	5.450754	0.96205	.	.	ENSG00000119614	ENST00000261980	D	0.92647	-3.08	5.28	5.28	0.74379	CVC domain (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95667	0.8591	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95600	0.8662	10	0.66056	D	0.02	.	19.1174	0.93346	0.0:1.0:0.0:0.0	.	217	P58304	VSX2_HUMAN	V	217	ENSP00000261980:A217V	ENSP00000261980:A217V	A	+	2	0	VSX2	73796128	1.000000	0.71417	0.968000	0.41197	0.851000	0.48451	7.590000	0.82653	2.746000	0.94184	0.655000	0.94253	GCG	VSX2	-	superfamily_Homeodomain-like	ENSG00000119614		0.627	VSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSX2	HGNC	protein_coding	OTTHUMT00000412323.1	-	0.00	75	0	C	NM_182894		74726375	+1	tier1	-	no_errors	ENST00000261980	ensembl	human	known	74_37	missense	23.19	53	16	SNP	1.000	T
WNK1	65125	genome.wustl.edu	37	12	994904	994904	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr12:994904A>G	ENST00000315939.6	+	19	5577	c.4934A>G	c.(4933-4935)aAa>aGa	p.K1645R	WNK1_ENST00000537687.1_Missense_Mutation_p.K1905R|WNK1_ENST00000530271.2_Missense_Mutation_p.K2143R|WNK1_ENST00000340908.4_Missense_Mutation_p.K1238R|WNK1_ENST00000535572.1_Missense_Mutation_p.K1398R	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1645					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ACACAACCCAAAGCTCCTGGA	0.473																																					Colon(19;451 567 6672 12618 28860)												0													78.0	77.0	78.0					12																	994904		2203	4300	6503	SO:0001583	missense	0			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.4934A>G	12.37:g.994904A>G	ENSP00000313059:p.Lys1645Arg		A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K2143R	ENST00000315939.6	37	c.6428	CCDS8506.1	12	.	.	.	.	.	.	.	.	.	.	A	18.75	3.691579	0.68271	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.72282	-0.64;-0.59;-0.59;-0.63;0.49	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	T	0.77791	0.4183	L	0.34521	1.04	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.997;0.994	T	0.78006	-0.2373	10	0.46703	T	0.11	-8.1727	16.5764	0.84681	1.0:0.0:0.0:0.0	.	1398;1398;1645	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	R	1398;1645;1905;818;2143;1238	ENSP00000441972:K1398R;ENSP00000313059:K1645R;ENSP00000444465:K1905R;ENSP00000433548:K2143R;ENSP00000341292:K1238R	ENSP00000252477:K818R	K	+	2	0	WNK1	865165	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.742000	0.74843	2.371000	0.80710	0.533000	0.62120	AAA	WNK1	-	NULL	ENSG00000060237		0.473	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	-	0.00	38	0	A	NM_018979		994904	+1	tier1	-	no_errors	ENST00000530271	ensembl	human	known	74_37	missense	31.48	37	17	SNP	1.000	G
ZCCHC11	23318	genome.wustl.edu	37	1	52991245	52991245	+	Silent	SNP	C	C	T	rs561083592		TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr1:52991245C>T	ENST00000371544.3	-	2	970	c.708G>A	c.(706-708)tcG>tcA	p.S236S	ZCCHC11_ENST00000257177.4_Silent_p.S236S|ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000355809.4_Silent_p.S236S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	236					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TTAAATCGTCCGATACGTCTT	0.343													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18629	0.0		0.0	False		,,,				2504	0.0																0													88.0	85.0	86.0					1																	52991245		2203	4300	6503	SO:0001819	synonymous_variant	0			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.708G>A	1.37:g.52991245C>T			A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Silent	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.S236	ENST00000371544.3	37	c.708	CCDS30716.1	1																																																																																			ZCCHC11	-	NULL	ENSG00000134744		0.343	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZCCHC11	HGNC	protein_coding	OTTHUMT00000022462.1	-	0.00	46	0	C	XM_038288		52991245	-1	tier1	-	no_errors	ENST00000257177	ensembl	human	known	74_37	silent	38.24	21	13	SNP	0.000	T
ZFP64	55734	genome.wustl.edu	37	20	50769375	50769375	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr20:50769375C>G	ENST00000216923.4	-	6	1705	c.1356G>C	c.(1354-1356)gaG>gaC	p.E452D	ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.E450D|ZFP64_ENST00000346617.4_Missense_Mutation_p.E398D|ZFP64_ENST00000477786.1_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	452					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(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						AGTTCTTACTCTCACTGTACT	0.587																																																	0													73.0	53.0	60.0					20																	50769375		2203	4300	6503	SO:0001583	missense	0			AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1356G>C	20.37:g.50769375C>G	ENSP00000216923:p.Glu452Asp		Q9NTS7|Q9NVH4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E452D	ENST00000216923.4	37	c.1356	CCDS13440.1	20	.	.	.	.	.	.	.	.	.	.	C	0.149	-1.093754	0.01858	.	.	ENSG00000020256	ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083;ENST00000371516	T;T;T	0.07114	3.23;3.26;3.22	5.09	0.28	0.15682	Zinc finger, C2H2 (1);	0.226724	0.29932	N	0.010830	T	0.03178	0.0093	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.15141	0.012;0.0;0.0	B;B;B	0.15484	0.013;0.0;0.0	T	0.38001	-0.9681	10	0.59425	D	0.04	-21.2558	5.7514	0.18148	0.0923:0.4012:0.369:0.1376	.	398;450;452	Q9NPA5-2;Q5JWM1;Q9NPA5	.;.;ZF64A_HUMAN	D	452;398;450;294;605	ENSP00000216923:E452D;ENSP00000344615:E398D;ENSP00000360570:E450D	ENSP00000216923:E452D	E	-	3	2	ZFP64	50202782	0.000000	0.05858	0.027000	0.17364	0.116000	0.19942	-0.448000	0.06820	0.157000	0.19338	0.585000	0.79938	GAG	ZFP64	-	pfscan_Znf_C2H2	ENSG00000020256		0.587	ZFP64-003	KNOWN	basic|CCDS	protein_coding	ZFP64	HGNC	protein_coding	OTTHUMT00000079744.1	-	0.00	15	0	C	NM_018197		50769375	-1	tier1	-	no_errors	ENST00000216923	ensembl	human	known	74_37	missense	25.93	20	7	SNP	0.000	G
ZFP64	55734	genome.wustl.edu	37	20	50769717	50769717	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr20:50769717C>A	ENST00000216923.4	-	6	1363	c.1014G>T	c.(1012-1014)caG>caT	p.Q338H	ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.Q336H|ZFP64_ENST00000346617.4_Missense_Mutation_p.Q284H|ZFP64_ENST00000477786.1_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	338					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(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GATGCTCCGACTGGTGCACGC	0.592																																																	0													117.0	108.0	111.0					20																	50769717		2203	4300	6503	SO:0001583	missense	0			AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1014G>T	20.37:g.50769717C>A	ENSP00000216923:p.Gln338His		Q9NTS7|Q9NVH4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q338H	ENST00000216923.4	37	c.1014	CCDS13440.1	20	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695165	0.68386	.	.	ENSG00000020256	ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083;ENST00000371516	T;T;T	0.15017	2.46;2.46;2.46	5.79	5.79	0.91817	Zinc finger, C2H2 (1);	0.000000	0.56097	D	0.000026	T	0.28532	0.0706	N	0.17674	0.51	0.41537	D	0.988491	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.85130	0.997;0.972;0.974	T	0.04333	-1.0959	10	0.87932	D	0	-23.8645	15.5119	0.75789	0.0:0.8624:0.1376:0.0	.	284;336;338	Q9NPA5-2;Q5JWM1;Q9NPA5	.;.;ZF64A_HUMAN	H	338;284;336;180;491	ENSP00000216923:Q338H;ENSP00000344615:Q284H;ENSP00000360570:Q336H	ENSP00000216923:Q338H	Q	-	3	2	ZFP64	50203124	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	1.617000	0.36943	2.740000	0.93945	0.609000	0.83330	CAG	ZFP64	-	pfscan_Znf_C2H2	ENSG00000020256		0.592	ZFP64-003	KNOWN	basic|CCDS	protein_coding	ZFP64	HGNC	protein_coding	OTTHUMT00000079744.1	-	0.00	50	0	C	NM_018197		50769717	-1	tier1	-	no_errors	ENST00000216923	ensembl	human	known	74_37	missense	18.46	53	12	SNP	1.000	A
ZMYM1	79830	genome.wustl.edu	37	1	35578791	35578791	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr1:35578791C>T	ENST00000373330.1	+	11	1534	c.1360C>T	c.(1360-1362)Cga>Tga	p.R454*	ZMYM1_ENST00000359858.4_Nonsense_Mutation_p.R454*|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	454			R -> Q (in dbSNP:rs7552714).			nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGGTAAATCACGAAGTATTAA	0.303																																																	0													51.0	49.0	50.0					1																	35578791		1819	4065	5884	SO:0001587	stop_gained	0			AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.1360C>T	1.37:g.35578791C>T	ENSP00000362427:p.Arg454*		D3DPR7|Q7Z3Q4	Nonsense_Mutation	SNP	pfam_Znf_MYM,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_TRASH_dom	p.R454*	ENST00000373330.1	37	c.1360	CCDS41302.1	1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.904676	0.52333	.	.	ENSG00000197056	ENST00000417119;ENST00000359858;ENST00000373329;ENST00000373330	.	.	.	4.79	0.707	0.18139	.	1.078430	0.07280	N	0.870576	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.6517	11.3907	0.49813	0.3388:0.5519:0.1092:0.0	.	.	.	.	X	454;454;379;454	.	ENSP00000352920:R454X	R	+	1	2	ZMYM1	35351378	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.377000	0.20552	-0.048000	0.13401	-2.726000	0.00130	CGA	ZMYM1	-	NULL	ENSG00000197056		0.303	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZMYM1	HGNC	protein_coding	OTTHUMT00000012705.1		0.00	26	0	C	NM_024772		35578791	+1			no_errors	ENST00000359858	ensembl	human	novel	74_37	nonsense	8.82	31	3	SNP	0.001	T
ZNF271	10778	genome.wustl.edu	37	18	32889230	32889230	+	RNA	SNP	C	C	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr18:32889230C>T	ENST00000399070.3	+	0	3624					NR_024565.1|NR_024566.1		Q14591	ZN271_HUMAN	zinc finger protein 271						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(9)	12						catatttggtcttcatcccct	0.358																																																	0																																												0			X78930		18q12.2	2013-04-03			ENSG00000257267	ENSG00000257267		"""Zinc fingers, C2H2-type"""	13065	other	unknown		604754				7865130, 11777961	Standard	NR_024565		Approved	HZF7, ZNFEB	uc002kyp.4	Q14591	OTTHUMG00000132563		18.37:g.32889230C>T			B3KN34|Q96T29|Q9BSX2|Q9UN33|Q9Y5B7	RNA	SNP	-	NULL	ENST00000399070.3	37	NULL		18																																																																																			ZNF271	-	-	ENSG00000257267		0.358	ZNF271-002	KNOWN	basic	processed_transcript	ZNF271	HGNC	pseudogene	OTTHUMT00000255767.2	-	0.00	29	0	C	NR_024565		32889230	+1	tier1	-	no_errors	ENST00000399070	ensembl	human	known	74_37	rna	15.00	34	6	SNP	0.002	T
ZNF418	147686	genome.wustl.edu	37	19	58437844	58437844	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr19:58437844T>C	ENST00000396147.1	-	4	1996	c.1705A>G	c.(1705-1707)Aga>Gga	p.R569G	ZNF418_ENST00000599852.1_Missense_Mutation_p.R484G|ZNF418_ENST00000595830.1_Missense_Mutation_p.R569G|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000425570.3_Missense_Mutation_p.R590G|ZNF418_ENST00000599086.1_5'Flank	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	569					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		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;0.0158)		CCACATTCTCTGCACTCATAA	0.438																																																	0													75.0	78.0	77.0					19																	58437844		2197	4297	6494	SO:0001583	missense	0			AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.1705A>G	19.37:g.58437844T>C	ENSP00000379451:p.Arg569Gly		Q2M1S2|Q670L5|Q96N18	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.R569G	ENST00000396147.1	37	c.1705	CCDS42642.1	19	.	.	.	.	.	.	.	.	.	.	.	6.242	0.412725	0.11812	.	.	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	T;T	0.14516	2.5;2.5	2.41	-4.82	0.03171	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06416	0.0165	N	0.11870	0.19	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36383	-0.9750	9	0.44086	T	0.13	.	7.2846	0.26330	0.0:0.5098:0.2715:0.2186	.	569	Q8TF45	ZN418_HUMAN	G	569;590;535	ENSP00000379451:R569G;ENSP00000407039:R590G	ENSP00000379451:R569G	R	-	1	2	ZNF418	63129656	0.000000	0.05858	0.003000	0.11579	0.083000	0.17756	-4.967000	0.00165	-1.197000	0.02673	-0.736000	0.03550	AGA	ZNF418	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196724		0.438	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	ZNF418	HGNC	protein_coding	OTTHUMT00000466693.1		0.00	55	0	T	NM_133460		58437844	-1			no_errors	ENST00000396147	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.000	C
ZNF678	339500	genome.wustl.edu	37	1	227843162	227843162	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr1:227843162C>T	ENST00000343776.5	+	4	1556	c.1211C>T	c.(1210-1212)cCc>cTc	p.P404L	ZNF678_ENST00000397097.3_Missense_Mutation_p.P459L|ZNF678_ENST00000608949.1_Intron	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	404					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(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				GGAGTGAAACCCTACAAATGT	0.383																																																	0													34.0	37.0	36.0					1																	227843162		2202	4298	6500	SO:0001583	missense	0			BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"""Zinc fingers, C2H2-type"", ""-"""	28652	protein-coding gene	gene with protein product	"""hypothetical protein MGC42493"""					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.1211C>T	1.37:g.227843162C>T	ENSP00000344828:p.Pro404Leu		Q8IVQ9	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.P459L	ENST00000343776.5	37	c.1376		1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120451	0.56613	.	.	ENSG00000181450	ENST00000343776;ENST00000397097	T;T	0.17054	2.3;2.3	1.63	1.63	0.23807	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35970	0.0950	M	0.72479	2.2	0.52501	D	0.99995	D	0.64830	0.994	D	0.77004	0.989	T	0.12293	-1.0553	9	0.66056	D	0.02	.	9.1842	0.37160	0.0:1.0:0.0:0.0	.	404	Q5SXM1	ZN678_HUMAN	L	404;459	ENSP00000344828:P404L;ENSP00000440403:P459L	ENSP00000344828:P404L	P	+	2	0	ZNF678	225909785	0.048000	0.20356	0.052000	0.19188	0.141000	0.21300	1.655000	0.37345	0.792000	0.33850	0.609000	0.83330	CCC	ZNF678	-	pfscan_Znf_C2H2	ENSG00000181450		0.383	ZNF678-001	KNOWN	basic	protein_coding	ZNF678	HGNC	protein_coding	OTTHUMT00000091976.2		0.00	21	0	C	NM_178549		227843162	+1			no_errors	ENST00000397097	ensembl	human	known	74_37	missense	8.57	32	3	SNP	0.998	T
ZNF704	619279	genome.wustl.edu	37	8	81550825	81550825	+	3'UTR	DEL	A	A	-			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr8:81550825delA	ENST00000327835.3	-	0	4246					NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704								metal ion binding (GO:0046872)			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TGCTACGTTTAAAAAAAAAAA	0.373																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.*2776T>-	8.37:g.81550825delA			B2RNE6|B9EGW6	RNA	DEL	-	NULL	ENST00000327835.3	37	NULL	CCDS34913.1	8																																																																																			ZNF704	-	-	ENSG00000164684		0.373	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF704	HGNC	protein_coding	OTTHUMT00000379964.2		0.00	18	0	A	NM_001033723		81550825	-1	tier1		no_errors	ENST00000517379	ensembl	human	putative	74_37	rna	20.69	23	6	DEL	0.000	-
ZNF778	197320	genome.wustl.edu	37	16	89294491	89294491	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr16:89294491A>T	ENST00000433976.2	+	6	2043	c.1711A>T	c.(1711-1713)Act>Tct	p.T571S	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Missense_Mutation_p.T529S	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	571					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(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		GAAAACATTCACTGTTTCTTC	0.428																																																	0													104.0	108.0	107.0					16																	89294491		2185	4295	6480	SO:0001583	missense	0			AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"""Zinc fingers, C2H2-type"", ""-"""	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.1711A>T	16.37:g.89294491A>T	ENSP00000405289:p.Thr571Ser		Q08AG0	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.T571S	ENST00000433976.2	37	c.1711	CCDS45550.1	16	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.713716	0.00706	.	.	ENSG00000170100	ENST00000433976;ENST00000306502	T;T	0.07567	3.18;3.18	0.844	0.844	0.18943	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01976	0.0062	N	0.01649	-0.78	0.09310	N	1	P;P	0.41569	0.711;0.755	B;B	0.36134	0.106;0.218	T	0.23833	-1.0177	9	0.02654	T	1	.	5.9223	0.19088	1.0:0.0:0.0:0.0	.	529;571	Q96MU6-2;Q96MU6	.;ZN778_HUMAN	S	571;529	ENSP00000405289:T571S;ENSP00000305203:T529S	ENSP00000305203:T529S	T	+	1	0	ZNF778	87821992	0.000000	0.05858	0.303000	0.25071	0.237000	0.25408	-1.916000	0.01576	0.625000	0.30304	0.445000	0.29226	ACT	ZNF778	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000170100		0.428	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF778	HGNC	protein_coding	OTTHUMT00000430383.1	-	0.00	41	0	A	NM_182531		89294491	+1	tier1	-	no_errors	ENST00000433976	ensembl	human	known	74_37	missense	7.94	58	5	SNP	0.230	T
ZNF815P	401303	genome.wustl.edu	37	7	5886801	5886801	+	RNA	SNP	C	C	T			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr7:5886801C>T	ENST00000421890.1	+	0	1211							A8K554	ZN815_HUMAN	zinc finger protein 815, pseudogene																		AGTGAGAAACCCCACGAATGC	0.587																																																	0																																												0			AK096288		7p22.1	2012-10-05	2012-04-20	2012-04-20	ENSG00000235944	ENSG00000235944			22029	pseudogene	pseudogene			"""zinc finger protein 815"""	ZNF815			Standard	NR_023382		Approved	FLJ38969	uc003spc.2	A8K554	OTTHUMG00000155501		7.37:g.5886801C>T				RNA	SNP	-	NULL	ENST00000421890.1	37	NULL		7																																																																																			ZNF815P	-	-	ENSG00000235944		0.587	ZNF815P-002	KNOWN	basic	processed_transcript	ZNF815P	HGNC	pseudogene	OTTHUMT00000340385.1	-	0.00	67	0	C			5886801	+1	tier1	-	no_errors	ENST00000421890	ensembl	human	known	74_37	rna	14.85	86	15	SNP	0.955	T
