#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
ABI1	10006	genome.wustl.edu	37	10	27066072	27066072	+	Silent	SNP	C	C	T	rs558636392	byFrequency	TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr10:27066072C>T	ENST00000376142.2	-	3	455	c.384G>A	c.(382-384)gcG>gcA	p.A128A	ABI1_ENST00000376139.2_Silent_p.A128A|ABI1_ENST00000376138.3_Silent_p.A128A|ABI1_ENST00000473481.1_5'UTR|ABI1_ENST00000376140.3_Silent_p.A128A|ABI1_ENST00000490841.2_Intron|ABI1_ENST00000359188.4_Silent_p.A128A|ABI1_ENST00000376137.4_Silent_p.A128A|ABI1_ENST00000355394.4_Silent_p.A128A|ABI1_ENST00000346832.5_Silent_p.A145A|ABI1_ENST00000376166.1_Silent_p.A128A|ABI1_ENST00000376134.3_Silent_p.A128A|ABI1_ENST00000376160.1_Silent_p.A128A|ABI1_ENST00000376170.4_Silent_p.A128A|ABI1_ENST00000536334.1_Silent_p.A128A	NM_005470.3	NP_005461.2	Q8IZP0	ABI1_HUMAN	abl-interactor 1	128					actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium morphogenesis (GO:0072673)|megakaryocyte development (GO:0035855)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|SCAR complex (GO:0031209)	cytoskeletal protein binding (GO:0008092)|protein complex binding (GO:0032403)|protein tyrosine kinase activator activity (GO:0030296)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCTCCATATTCGCAGGTGCTA	0.383													C|||	2	0.000399361	0.0015	0.0	5008	,	,		15980	0.0		0.0	False		,,,				2504	0.0																0													154.0	140.0	145.0					10																	27066072		2203	4300	6503	SO:0001819	synonymous_variant	0			U87166	CCDS7150.1, CCDS31169.1, CCDS31170.1, CCDS31171.1, CCDS53497.1, CCDS53498.1, CCDS53499.1, CCDS53500.1, CCDS53501.1, CCDS73077.1, CCDS73078.1	10p12.1	2009-05-29	2004-03-17	2004-03-19	ENSG00000136754	ENSG00000136754			11320	protein-coding gene	gene with protein product		603050	"""spectrin SH3 domain binding protein 1"""	SSH3BP1		9593709, 9010225	Standard	NM_005470		Approved	E3B1, ABI-1	uc001isx.3	Q8IZP0	OTTHUMG00000017848	ENST00000376142.2:c.384G>A	10.37:g.27066072C>T			A9Z1Y6|B3KX62|B4DQ58|H7BXI6|O15147|O76049|O95060|Q5T2R3|Q5T2R4|Q5T2R6|Q5T2R7|Q5T2R9|Q5W070|Q5W072|Q8TB63|Q96S81|Q9NXZ9|Q9NYB8	Silent	SNP	pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,pfscan_T_SNARE_dom,prints_SH3_domain,prints_p67phox	p.A128	ENST00000376142.2	37	c.384	CCDS7150.1	10																																																																																			ABI1	-	pfam_Abl-interactor_HHR_dom	ENSG00000136754		0.383	ABI1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABI1	HGNC	protein_coding	OTTHUMT00000047287.1	-	0.00	70	0	C	NM_005470		27066072	-1	tier1	-	no_errors	ENST00000355394	ensembl	human	known	74_37	silent	21.88	49	14	SNP	0.998	T
ACAD11	84129	genome.wustl.edu	37	3	132277827	132277827	+	Silent	SNP	T	T	C			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr3:132277827T>C	ENST00000264990.6	-	20	3302	c.2331A>G	c.(2329-2331)acA>acG	p.T777T	ACAD11_ENST00000545291.1_Silent_p.T302T|ACAD11_ENST00000355458.3_Silent_p.T673T	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	777					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						ATATCTTGGCTGTCAGTCTTT	0.448																																																	0													126.0	112.0	117.0					3																	132277827		2203	4299	6502	SO:0001819	synonymous_variant	0			BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.2331A>G	3.37:g.132277827T>C			Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Silent	SNP	pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom	p.T777	ENST00000264990.6	37	c.2331	CCDS3074.1	3																																																																																			ACAD11	-	NULL	ENSG00000240303		0.448	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD11	HGNC	protein_coding	OTTHUMT00000357279.2	-	0.00	91	0	T	NM_032169		132277827	-1	tier1	-	no_errors	ENST00000264990	ensembl	human	known	74_37	silent	17.65	70	15	SNP	0.231	C
ACSM2A	123876	genome.wustl.edu	37	16	20492165	20492165	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr16:20492165G>T	ENST00000573854.1	+	12	1545	c.1431G>T	c.(1429-1431)gaG>gaT	p.E477D	ACSM2A_ENST00000575690.1_Missense_Mutation_p.E477D|ACSM2A_ENST00000219054.6_Missense_Mutation_p.E477D|ACSM2A_ENST00000396104.2_Missense_Mutation_p.E477D|ACSM2A_ENST00000536134.1_Missense_Mutation_p.E249D|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000417235.2_Missense_Mutation_p.E398D	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	477					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GACCCTCGGAGGTAGAGAATG	0.577																																																	0													111.0	99.0	103.0					16																	20492165		2202	4299	6501	SO:0001583	missense	0			AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1431G>T	16.37:g.20492165G>T	ENSP00000459451:p.Glu477Asp		B3KTT9|O75202	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.E477D	ENST00000573854.1	37	c.1431	CCDS32401.1	16	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924354	0.52653	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69	3.26	1.01	0.19927	AMP-dependent synthetase/ligase (1);	0.394295	0.19588	N	0.110682	T	0.77909	0.4201	M	0.65320	2	0.80722	D	1	D;D	0.76494	0.999;0.986	D;D	0.97110	1.0;0.948	T	0.74355	-0.3692	10	0.87932	D	0	-12.5928	6.768	0.23579	0.5736:0.0:0.4264:0.0	.	398;477	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	D	398;477;249;477	ENSP00000392169:E398D;ENSP00000219054:E477D;ENSP00000445082:E249D;ENSP00000379411:E477D	ENSP00000219054:E477D	E	+	3	2	ACSM2A	20399666	1.000000	0.71417	0.997000	0.53966	0.806000	0.45545	0.580000	0.23803	0.002000	0.14630	0.289000	0.19496	GAG	ACSM2A	-	pfam_AMP-dep_Synth/Lig	ENSG00000183747		0.577	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM2A	HGNC	protein_coding	OTTHUMT00000436764.1	-	0.00	94	0	G	NM_001010845		20492165	+1	tier1	-	no_errors	ENST00000219054	ensembl	human	known	74_37	missense	8.79	83	8	SNP	1.000	T
ACTA2	59	genome.wustl.edu	37	10	90701066	90701066	+	Missense_Mutation	SNP	C	C	T	rs387906592		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr10:90701066C>T	ENST00000458208.1	-	6	1010	c.536G>A	c.(535-537)cGt>cAt	p.R179H	ACTA2_ENST00000224784.6_Missense_Mutation_p.R179H|ACTA2_ENST00000480297.1_5'UTR|ACTA2-AS1_ENST00000596007.1_RNA|ACTA2-AS1_ENST00000437930.4_RNA|STAMBPL1_ENST00000371927.3_Intron	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	179			R -> H (in MYMY5 and MSMDYS; disease phenotype include smooth muscle cells dysfunction in organs throughout the body with decreased contractile function in the iris, bladder and gastrointestinal tract). {ECO:0000269|PubMed:20734336, ECO:0000269|PubMed:20970362}.		glomerular mesangial cell development (GO:0072144)|muscle contraction (GO:0006936)|regulation of blood pressure (GO:0008217)|response to virus (GO:0009615)|vascular smooth muscle contraction (GO:0014829)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|smooth muscle contractile fiber (GO:0030485)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		CAGATCCAGACGCATGATGGC	0.547																																																	0													144.0	117.0	126.0					10																	90701066		2203	4300	6503	SO:0001583	missense	0			X13839	CCDS7392.1	10q23.31	2014-09-17			ENSG00000107796	ENSG00000107796			130	protein-coding gene	gene with protein product		102620				2398629	Standard	NM_001141945		Approved	ACTSA	uc001kfp.3	P62736	OTTHUMG00000018700	ENST00000458208.1:c.536G>A	10.37:g.90701066C>T	ENSP00000402373:p.Arg179His		B2R8A4|P03996|P04108|Q6FI19	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.R179H	ENST00000458208.1	37	c.536	CCDS7392.1	10	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626785	0.66901	.	.	ENSG00000107796	ENST00000224784;ENST00000458208;ENST00000544901	D;D	0.94966	-3.57;-3.57	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.95739	0.8614	M	0.88775	2.98	0.80722	D	1	B	0.23650	0.089	B	0.29077	0.098	D	0.93754	0.7061	10	0.87932	D	0	.	18.7419	0.91777	0.0:1.0:0.0:0.0	.	179	P62736	ACTA_HUMAN	H	179;179;134	ENSP00000224784:R179H;ENSP00000402373:R179H	ENSP00000224784:R179H	R	-	2	0	ACTA2	90691046	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.769000	0.85360	2.762000	0.94881	0.655000	0.94253	CGT	ACTA2	-	pfam_Actin-related,smart_Actin-related	ENSG00000107796		0.547	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTA2	HGNC	protein_coding	OTTHUMT00000049264.1	-	0.00	86	0	C	NM_001613		90701066	-1	tier1	-	no_errors	ENST00000224784	ensembl	human	known	74_37	missense	16.39	51	10	SNP	1.000	T
ADAM12	8038	genome.wustl.edu	37	10	127708387	127708387	+	Missense_Mutation	SNP	C	C	T	rs374420879		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr10:127708387C>T	ENST00000368679.4	-	22	2855	c.2546G>A	c.(2545-2547)tGt>tAt	p.C849Y		NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	849					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GTTTGGCTTACAGGTCCCCTG	0.602																																																	0													33.0	33.0	33.0					10																	127708387		2203	4300	6503	SO:0001583	missense	0			AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.2546G>A	10.37:g.127708387C>T	ENSP00000357668:p.Cys849Tyr		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.C849Y	ENST00000368679.4	37	c.2546	CCDS7653.1	10	.	.	.	.	.	.	.	.	.	.	C	0.066	-1.213082	0.01555	.	.	ENSG00000148848	ENST00000368679	T	0.01455	4.87	5.37	-0.507	0.11985	.	0.985106	0.08292	N	0.968330	T	0.01695	0.0054	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46034	-0.9220	10	0.49607	T	0.09	.	9.1493	0.36953	0.0:0.4678:0.0:0.5322	.	849	O43184	ADA12_HUMAN	Y	849	ENSP00000357668:C849Y	ENSP00000357668:C849Y	C	-	2	0	ADAM12	127698377	0.000000	0.05858	0.000000	0.03702	0.174000	0.22865	-0.808000	0.04515	0.002000	0.14630	-0.145000	0.13849	TGT	ADAM12	-	NULL	ENSG00000148848		0.602	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM12	HGNC	protein_coding	OTTHUMT00000050961.1		0.00	44	0	C			127708387	-1			no_errors	ENST00000368679	ensembl	human	known	74_37	missense	8.11	34	3	SNP	0.000	T
AGL	178	genome.wustl.edu	37	1	100361905	100361905	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:100361905G>C	ENST00000294724.4	+	25	3801	c.3323G>C	c.(3322-3324)aGa>aCa	p.R1108T	AGL_ENST00000370165.3_Missense_Mutation_p.R1108T|AGL_ENST00000370163.3_Missense_Mutation_p.R1108T|AGL_ENST00000370161.2_Missense_Mutation_p.R1092T|AGL_ENST00000361302.3_Missense_Mutation_p.R1092T|AGL_ENST00000361522.4_Missense_Mutation_p.R1091T|AGL_ENST00000361915.3_Missense_Mutation_p.R1108T	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1108					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		ATTGCACTTAGAGGTATACTG	0.388																																																	0													224.0	199.0	207.0					1																	100361905		2203	4300	6503	SO:0001583	missense	0			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.3323G>C	1.37:g.100361905G>C	ENSP00000294724:p.Arg1108Thr		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met	p.R1108T	ENST00000294724.4	37	c.3323	CCDS759.1	1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479324	0.84747	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42	5.94	5.04	0.67666	Six-hairpin glycosidase-like (1);	0.044996	0.85682	D	0.000000	T	0.79511	0.4458	M	0.87617	2.895	0.80722	D	1	D;D;D	0.62365	0.991;0.991;0.987	D;D;D	0.66979	0.948;0.948;0.944	D	0.84243	0.0473	10	0.72032	D	0.01	.	15.1059	0.72322	0.0675:0.0:0.9325:0.0	.	1091;1092;1108	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	T	1108;1108;1108;1108;1092;1092;1091	ENSP00000355106:R1108T;ENSP00000359184:R1108T;ENSP00000359182:R1108T;ENSP00000294724:R1108T;ENSP00000354971:R1092T;ENSP00000359180:R1092T;ENSP00000354635:R1091T	ENSP00000294724:R1108T	R	+	2	0	AGL	100134493	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	7.635000	0.83286	1.530000	0.49136	0.650000	0.86243	AGA	AGL	-	pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,tigrfam_Glycogen_debranch_met	ENSG00000162688		0.388	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AGL	HGNC	protein_coding	OTTHUMT00000029778.1		0.00	82	0	G	NM_000028		100361905	+1			no_errors	ENST00000294724	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	C
AHNAK	79026	genome.wustl.edu	37	11	62290215	62290215	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr11:62290215C>T	ENST00000378024.4	-	5	11948	c.11674G>A	c.(11674-11676)Gat>Aat	p.D3892N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3892					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGAGACACATCCATATCACCC	0.458																																																	0													245.0	253.0	250.0					11																	62290215		2202	4299	6501	SO:0001583	missense	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.11674G>A	11.37:g.62290215C>T	ENSP00000367263:p.Asp3892Asn		A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D3892N	ENST00000378024.4	37	c.11674	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	-	11.63	1.694982	0.30052	.	.	ENSG00000124942	ENST00000378024	T	0.03330	3.97	4.19	3.28	0.37604	.	0.000000	0.42682	D	0.000671	T	0.17619	0.0423	M	0.86343	2.81	0.37420	D	0.913585	D	0.69078	0.997	D	0.79784	0.993	T	0.04103	-1.0977	10	0.40728	T	0.16	.	9.8426	0.41008	0.0:0.9025:0.0:0.0975	.	3892	Q09666	AHNK_HUMAN	N	3892	ENSP00000367263:D3892N	ENSP00000367263:D3892N	D	-	1	0	AHNAK	62046791	0.111000	0.22076	0.002000	0.10522	0.016000	0.09150	0.558000	0.23469	0.981000	0.38548	0.543000	0.68304	GAT	AHNAK	-	NULL	ENSG00000124942		0.458	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	-	0.00	142	0	C	NM_024060		62290215	-1	tier1	-	no_errors	ENST00000378024	ensembl	human	known	74_37	missense	5.31	107	6	SNP	0.854	T
AKAP11	11215	genome.wustl.edu	37	13	42876108	42876108	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr13:42876108G>T	ENST00000025301.2	+	8	3401	c.3226G>T	c.(3226-3228)Gca>Tca	p.A1076S		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1076					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CTCATCTACAGCACTTACCTG	0.403																																																	0													157.0	148.0	151.0					13																	42876108		2203	4300	6503	SO:0001583	missense	0			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.3226G>T	13.37:g.42876108G>T	ENSP00000025301:p.Ala1076Ser		O75124|Q9NUK7	Missense_Mutation	SNP	NULL	p.A1076S	ENST00000025301.2	37	c.3226	CCDS9383.1	13	.	.	.	.	.	.	.	.	.	.	G	2.738	-0.262939	0.05754	.	.	ENSG00000023516	ENST00000025301	T	0.13778	2.56	5.8	4.91	0.64330	.	0.267312	0.30293	N	0.009956	T	0.08492	0.0211	N	0.22421	0.69	0.20638	N	0.999873	B	0.15141	0.012	B	0.10450	0.005	T	0.13602	-1.0503	10	0.66056	D	0.02	.	4.3972	0.11369	0.1478:0.0:0.5135:0.3387	.	1076	Q9UKA4	AKA11_HUMAN	S	1076	ENSP00000025301:A1076S	ENSP00000025301:A1076S	A	+	1	0	AKAP11	41774108	0.913000	0.31002	1.000000	0.80357	0.235000	0.25334	1.368000	0.34216	2.744000	0.94065	0.655000	0.94253	GCA	AKAP11	-	NULL	ENSG00000023516		0.403	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP11	HGNC	protein_coding	OTTHUMT00000044700.2	-	0.00	54	0	G	NM_016248		42876108	+1	tier1	-	no_errors	ENST00000025301	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.819	T
AKNA	80709	genome.wustl.edu	37	9	117139229	117139229	+	Silent	SNP	T	T	C			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr9:117139229T>C	ENST00000307564.4	-	3	1019	c.858A>G	c.(856-858)agA>agG	p.R286R	AKNA_ENST00000374075.5_Silent_p.R205R|AKNA_ENST00000223791.3_5'UTR|AKNA_ENST00000312033.3_Silent_p.R286R|AKNA_ENST00000374088.3_Silent_p.R286R	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	286					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	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(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GGCAGAAGAATCTGGTCGTTT	0.567																																																	0													119.0	106.0	110.0					9																	117139229		2203	4300	6503	SO:0001819	synonymous_variant	0			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.858A>G	9.37:g.117139229T>C			Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Silent	SNP	pfam_TF_AT-hook	p.R286	ENST00000307564.4	37	c.858	CCDS6805.1	9																																																																																			AKNA	-	NULL	ENSG00000106948		0.567	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	HGNC	protein_coding	OTTHUMT00000053767.2	-	0.00	34	0	T	NM_030767		117139229	-1	tier1	-	no_errors	ENST00000307564	ensembl	human	known	74_37	silent	35.00	13	7	SNP	0.061	C
ALKBH5	54890	genome.wustl.edu	37	17	18110203	18110203	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr17:18110203A>T	ENST00000399138.4	+	3	931	c.926A>T	c.(925-927)gAt>gTt	p.D309V	ALKBH5_ENST00000541285.1_5'UTR	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	AlkB family member 5, RNA demethylase	309					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|oxidative single-stranded RNA demethylation (GO:0035553)|response to hypoxia (GO:0001666)|spermatogenesis (GO:0007283)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidative RNA demethylase activity (GO:0035515)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					TATGCTTCAGATCGCCTGTCA	0.552																																					Ovarian(166;154 1953 40235 46283 46309)												0													196.0	203.0	200.0					17																	18110203		1944	4129	6073	SO:0001583	missense	0			AK000315	CCDS42272.1	17p11.2	2014-07-23	2014-07-23	2006-02-09	ENSG00000091542	ENSG00000091542	1.14.11.-	"""Alkylation repair homologs"""	25996	protein-coding gene	gene with protein product		613303	"""oxoglutarate and iron-dependent oxygenase domain containing"", ""alkB, alkylation repair homolog 5 (E. coli)"""	OFOXD1		11997338, 24778178	Standard	NM_017758		Approved	FLJ20308	uc010cpw.3	Q6P6C2	OTTHUMG00000059397	ENST00000399138.4:c.926A>T	17.37:g.18110203A>T	ENSP00000382091:p.Asp309Val		B4DVJ4|D3DXC6|Q9NXD6	Missense_Mutation	SNP	NULL	p.D309V	ENST00000399138.4	37	c.926	CCDS42272.1	17	.	.	.	.	.	.	.	.	.	.	A	25.8	4.672167	0.88348	.	.	ENSG00000091542	ENST00000261650;ENST00000500385;ENST00000399138	.	.	.	5.56	5.56	0.83823	.	0.074928	0.56097	D	0.000038	T	0.50565	0.1623	N	0.19112	0.55	0.80722	D	1	D	0.61697	0.99	P	0.52343	0.696	T	0.55939	-0.8061	9	0.59425	D	0.04	-7.4364	15.7046	0.77569	1.0:0.0:0.0:0.0	.	309	Q6P6C2-2	.	V	309;298;309	.	ENSP00000261650:D309V	D	+	2	0	ALKBH5	18050928	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.396000	0.52565	2.115000	0.64714	0.533000	0.62120	GAT	ALKBH5	-	NULL	ENSG00000091542		0.552	ALKBH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALKBH5	HGNC	protein_coding	OTTHUMT00000132069.3	-	0.00	52	0	A	NM_017758		18110203	+1	tier1	-	no_errors	ENST00000399138	ensembl	human	known	74_37	missense	19.35	25	6	SNP	1.000	T
ANKRD18B	441459	genome.wustl.edu	37	9	33548488	33548488	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr9:33548488C>G	ENST00000290943.6	+	9	1612	c.1516C>G	c.(1516-1518)Ctc>Gtc	p.L506V		NM_001244752.1	NP_001231681.1	A2A2Z9	AN18B_HUMAN	ankyrin repeat domain 18B	506										NS(1)|breast(1)|endometrium(2)|lung(1)|prostate(1)|stomach(1)	7						AAGAGATGCTCTCAGGGAAAA	0.433																																																	0																																										SO:0001583	missense	0					9p13.3	2013-01-10			ENSG00000230453	ENSG00000230453		"""Ankyrin repeat domain containing"""	23644	protein-coding gene	gene with protein product							Standard	NM_001244752		Approved	bA255A11.3	uc010mjw.2	A2A2Z9	OTTHUMG00000019776	ENST00000290943.6:c.1516C>G	9.37:g.33548488C>G	ENSP00000290943:p.Leu506Val			Missense_Mutation	SNP	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L506V	ENST00000290943.6	37	c.1516		9	.	.	.	.	.	.	.	.	.	.	c	14.46	2.542004	0.45280	.	.	ENSG00000230453	ENST00000290943	T	0.40756	1.02	1.47	1.47	0.22746	.	.	.	.	.	T	0.45736	0.1357	.	.	.	0.26776	N	0.969705	.	.	.	.	.	.	T	0.59532	-0.7437	5	0.62326	D	0.03	.	8.902	0.35501	0.0:1.0:0.0:0.0	.	.	.	.	V	506	ENSP00000290943:L506V	ENSP00000290943:L506V	L	+	1	0	ANKRD18B	33538488	0.879000	0.30193	0.983000	0.44433	0.333000	0.28666	1.401000	0.34589	1.120000	0.41904	0.298000	0.19748	CTC	ANKRD18B	-	NULL	ENSG00000230453		0.433	ANKRD18B-002	KNOWN	basic|appris_principal	protein_coding	ANKRD18B	HGNC	protein_coding	OTTHUMT00000313729.2	-	0.00	71	0	C	XM_001718334		33548488	+1	tier1	-	no_errors	ENST00000290943	ensembl	human	known	74_37	missense	41.10	43	30	SNP	0.996	G
AQP12A	375318	genome.wustl.edu	37	2	241631539	241631539	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr2:241631539G>A	ENST00000337801.4	+	2	241	c.172G>A	c.(172-174)Gac>Aac	p.D58N	AQP12A_ENST00000429564.1_Missense_Mutation_p.D70N|AC011298.2_ENST00000407635.2_lincRNA	NM_198998.2	NP_945349.1	Q8IXF9	AQ12A_HUMAN	aquaporin 12A	58						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		CTTTGGGCCTGACCTGCTGCT	0.692																																																	0													25.0	37.0	33.0					2																	241631539		2162	4266	6428	SO:0001583	missense	0			AB040748		2q37.3	2013-06-03	2005-05-26	2005-05-26	ENSG00000184945	ENSG00000184945		"""Ion channels / Aquaporins"""	19941	protein-coding gene	gene with protein product		609789	"""aquaporin 12"""	AQP12			Standard	NM_198998		Approved		uc002vzu.3	Q8IXF9	OTTHUMG00000183906	ENST00000337801.4:c.172G>A	2.37:g.241631539G>A	ENSP00000337144:p.Asp58Asn			Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP	p.D70N	ENST00000337801.4	37	c.208		2	.	.	.	.	.	.	.	.	.	.	.	14.64	2.595329	0.46318	.	.	ENSG00000184945	ENST00000337801;ENST00000429564;ENST00000420599	T;T	0.62105	0.05;0.05	2.43	2.43	0.29744	Aquaporin-like (1);	0.113396	0.64402	D	0.000015	T	0.73171	0.3553	M	0.72118	2.19	0.41798	D	0.989901	D	0.89917	1.0	D	0.97110	1.0	T	0.71059	-0.4702	10	0.25751	T	0.34	-10.7472	10.6008	0.45365	0.0:0.0:1.0:0.0	.	58	Q8IXF9	AQ12A_HUMAN	N	58;70;43	ENSP00000337144:D58N;ENSP00000405899:D70N	ENSP00000337144:D58N	D	+	1	0	AQP12A	241280212	1.000000	0.71417	0.805000	0.32314	0.231000	0.25187	7.483000	0.81158	1.382000	0.46385	0.186000	0.17326	GAC	AQP12A	-	superfamily_Aquaporin-like,pirsf_Aquaporin_11/12	ENSG00000184945		0.692	AQP12A-001	KNOWN	basic|appris_principal	protein_coding	AQP12A	HGNC	protein_coding	OTTHUMT00000257185.2		0.00	68	0	G	NM_198998		241631539	+1			no_errors	ENST00000429564	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.991	A
ARHGAP33	115703	genome.wustl.edu	37	19	36270045	36270045	+	Intron	SNP	C	C	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr19:36270045C>T	ENST00000007510.4	+	6	645				ARHGAP33_ENST00000378944.5_Intron|ARHGAP33_ENST00000221905.1_3'UTR|ARHGAP33_ENST00000314737.5_Intron			O14559	RHG33_HUMAN	Rho GTPase activating protein 33						protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GGGCAGGGGGCTTGGAGATTC	0.612																																																	0													39.0	26.0	31.0					19																	36270045		2055	4009	6064	SO:0001627	intron_variant	0			AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.501+19C>T	19.37:g.36270045C>T			O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	RNA	SNP	-	NULL	ENST00000007510.4	37	NULL		19	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024687	0.54683	.	.	ENSG00000004777	ENST00000221905	.	.	.	4.91	1.53	0.23141	.	.	.	.	.	T	0.24774	0.0601	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.22173	-1.0224	6	.	.	.	.	7.6509	0.28348	0.0:0.7098:0.0:0.2902	.	192	O14559-12	.	F	192	.	.	L	+	1	0	ARHGAP33	40961885	0.000000	0.05858	0.017000	0.16124	0.875000	0.50365	-1.151000	0.03175	0.596000	0.29794	0.561000	0.74099	CTT	ARHGAP33	-	-	ENSG00000004777		0.612	ARHGAP33-201	KNOWN	basic	protein_coding	ARHGAP33	HGNC	protein_coding		-	0.00	30	0	C	NM_052948		36270045	+1	tier1	-	no_errors	ENST00000221905	ensembl	human	known	74_37	rna	31.58	13	6	SNP	0.003	T
ARHGEF9	23229	genome.wustl.edu	37	X	62875450	62875450	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chrX:62875450C>G	ENST00000253401.6	-	8	2024	c.1224G>C	c.(1222-1224)aaG>aaC	p.K408N	ARHGEF9_ENST00000433323.2_Missense_Mutation_p.K135N|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.K306N|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.K355N|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.K387N|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.K406N	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	408	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CCTCCAGCTTCTTGGCAAAGA	0.423																																																	0													197.0	165.0	176.0					X																	62875450		2203	4300	6503	SO:0001583	missense	0			AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.1224G>C	X.37:g.62875450C>G	ENSP00000253401:p.Lys408Asn		A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.K408N	ENST00000253401.6	37	c.1224	CCDS35315.1	X	.	.	.	.	.	.	.	.	.	.	C	17.25	3.340953	0.60963	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000433323;ENST00000374872	D;D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46;-2.46	5.54	2.84	0.33178	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.94368	0.8189	M	0.91717	3.235	0.53005	D	0.999967	D;D;D;D	0.76494	0.999;0.999;0.996;0.999	D;D;D;D	0.74674	0.984;0.978;0.948;0.978	D	0.92238	0.5798	10	0.44086	T	0.13	.	9.4828	0.38911	0.0:0.7604:0.0:0.2396	.	355;406;408;408	B4DHC7;B1AMR4;O43307;A8K1S8	.;.;ARHG9_HUMAN;.	N	408;406;355;306;135;387	ENSP00000253401:K408N;ENSP00000364012:K406N;ENSP00000399994:K355N;ENSP00000364004:K306N;ENSP00000404478:K135N;ENSP00000364006:K387N	ENSP00000253401:K408N	K	-	3	2	ARHGEF9	62792175	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	1.511000	0.35801	0.176000	0.19873	0.436000	0.28706	AAG	ARHGEF9	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000131089		0.423	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF9	HGNC	protein_coding	OTTHUMT00000056937.1	-	0.00	32	0	C			62875450	-1	tier1	-	no_errors	ENST00000253401	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	G
ARID1B	57492	genome.wustl.edu	37	6	157528050	157528050	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr6:157528050C>G	ENST00000350026.5	+	19	5737	c.5736C>G	c.(5734-5736)agC>agG	p.S1912R	ARID1B_ENST00000367148.1_Missense_Mutation_p.S1965R|ARID1B_ENST00000346085.5_Missense_Mutation_p.S1925R|ARID1B_ENST00000275248.4_Missense_Mutation_p.S1907R	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1912					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGCCCAGGAGCCGAGACGAGA	0.557																																																	0													98.0	98.0	98.0					6																	157528050		2203	4296	6499	SO:0001583	missense	0			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.5736C>G	6.37:g.157528050C>G	ENSP00000055163:p.Ser1912Arg		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.S1965R	ENST00000350026.5	37	c.5895	CCDS5251.2	6	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852512	0.51270	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02345	4.66;4.66;4.66;4.67;4.33	5.08	5.08	0.68730	.	0.128489	0.64402	D	0.000001	T	0.06690	0.0171	M	0.63428	1.95	0.58432	D	0.999991	D;D;D	0.76494	0.998;0.999;0.999	P;D;D	0.64776	0.852;0.929;0.929	T	0.03619	-1.1019	10	0.72032	D	0.01	.	12.8644	0.57932	0.0:0.9216:0.0:0.0784	.	1912;1925;1907	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	R	1925;1912;1965;1907;1434	ENSP00000344546:S1925R;ENSP00000055163:S1912R;ENSP00000356116:S1965R;ENSP00000275248:S1907R;ENSP00000412835:S1434R	ENSP00000275248:S1907R	S	+	3	2	ARID1B	157569742	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	4.072000	0.57563	2.347000	0.79759	0.563000	0.77884	AGC	ARID1B	-	NULL	ENSG00000049618		0.557	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	HGNC	protein_coding	OTTHUMT00000372723.1		0.00	44	0	C	NM_020732		157528050	+1			no_errors	ENST00000367148	ensembl	human	known	74_37	missense	8.82	31	3	SNP	1.000	G
ARSJ	79642	genome.wustl.edu	37	4	114823722	114823722	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr4:114823722T>C	ENST00000315366.7	-	2	2374	c.1508A>G	c.(1507-1509)tAt>tGt	p.Y503C	ARSJ_ENST00000541197.1_Missense_Mutation_p.Y503C	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	503					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CACCCTCTCATATGGGTCGGC	0.512																																																	0													75.0	72.0	73.0					4																	114823722		1925	4131	6056	SO:0001583	missense	0				CCDS43264.1	4q26	2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801		"""Arylsulfatase family"""	26286	protein-coding gene	gene with protein product		610010	"""arylsulfatase J"""			12975309, 16174644	Standard	NM_024590		Approved	FLJ23548	uc003ibq.1	Q5FYB0	OTTHUMG00000161067	ENST00000315366.7:c.1508A>G	4.37:g.114823722T>C	ENSP00000320219:p.Tyr503Cys		A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.Y503C	ENST00000315366.7	37	c.1508	CCDS43264.1	4	.	.	.	.	.	.	.	.	.	.	T	11.36	1.614655	0.28712	.	.	ENSG00000180801	ENST00000315366;ENST00000541197;ENST00000545965	D;D	0.97279	-4.32;-4.32	5.41	5.41	0.78517	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	1.744770	0.03517	N	0.220464	D	0.96433	0.8836	L	0.39020	1.185	0.44985	D	0.998007	B;B	0.32051	0.354;0.126	B;B	0.40565	0.333;0.143	T	0.81050	-0.1108	10	0.33940	T	0.23	.	15.4584	0.75333	0.0:0.0:0.0:1.0	.	503;503	Q1HA39;Q5FYB0	.;ARSJ_HUMAN	C	503;503;72	ENSP00000320219:Y503C;ENSP00000438836:Y503C	ENSP00000320219:Y503C	Y	-	2	0	ARSJ	115043171	1.000000	0.71417	0.218000	0.23776	0.974000	0.67602	3.915000	0.56409	2.058000	0.61347	0.533000	0.62120	TAT	ARSJ	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000180801		0.512	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSJ	HGNC	protein_coding	OTTHUMT00000363650.1	-	0.00	56	0	T	NM_024590		114823722	-1	tier1	-	no_errors	ENST00000315366	ensembl	human	known	74_37	missense	7.58	61	5	SNP	0.994	C
ARX	170302	genome.wustl.edu	37	X	25028418	25028418	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chrX:25028418C>T	ENST00000379044.4	-	3	1288	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K		NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN	aristaless related homeobox	360					axon guidance (GO:0007411)|cell proliferation in forebrain (GO:0021846)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex tangential migration (GO:0021800)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|epithelial cell fate commitment (GO:0072148)|globus pallidus development (GO:0021759)|lipid digestion (GO:0044241)|positive regulation of organ growth (GO:0046622)|regulation of cell proliferation (GO:0042127)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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 negative regulation of transcription (GO:0001206)			kidney(1)|large_intestine(2)|lung(1)	4						ATGGCCAGTTCCTCCCTATAA	0.607																																																	0													61.0	52.0	55.0					X																	25028418		2202	4300	6502	SO:0001583	missense	0			AY038071	CCDS14215.1	Xp21.3	2011-06-20			ENSG00000004848	ENSG00000004848		"""Homeoboxes / PRD class"""	18060	protein-coding gene	gene with protein product	"""cancer/testis antigen 121"""	300382	"""mental retardation, X-linked 54"", ""mental retardation, X-linked 43"", ""mental retardation, X-linked 36"", ""mental retardation, X-linked 29"", ""mental retardation, X-linked 32"", ""mental retardation, X-linked 33"", ""mental retardation, X-linked 38"", ""mental retardation, X-linked 87"", ""mental retardation, X-linked 76"""	MRXS1, PRTS, MRX76, MRX54, MRX43, MRX36, MRX29, MRX32, MRX33, MRX38, MRX87		11889467, 15850492, 17480217	Standard	NM_139058		Approved	ISSX, CT121, EIEE1	uc004dbp.4	Q96QS3	OTTHUMG00000021275	ENST00000379044.4:c.1078G>A	X.37:g.25028418C>T	ENSP00000368332:p.Glu360Lys			Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom,prints_Antifreeze_1	p.E360K	ENST00000379044.4	37	c.1078	CCDS14215.1	X	.	.	.	.	.	.	.	.	.	.	c	18.53	3.643895	0.67244	.	.	ENSG00000004848	ENST00000379044	D	0.96522	-4.04	4.68	3.81	0.43845	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.136400	0.47093	N	0.000243	D	0.95812	0.8637	L	0.28694	0.88	0.80722	D	1	D	0.55605	0.972	D	0.62955	0.909	D	0.95620	0.8680	10	0.87932	D	0	.	12.2991	0.54864	0.0:0.9143:0.0:0.0857	.	360	Q96QS3	ARX_HUMAN	K	360	ENSP00000368332:E360K	ENSP00000368332:E360K	E	-	1	0	ARX	24938339	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.983000	0.63832	0.901000	0.36495	0.519000	0.50382	GAA	ARX	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000004848		0.607	ARX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARX	HGNC	protein_coding	OTTHUMT00000056109.1	-	0.00	31	0	C			25028418	-1	tier1	-	no_errors	ENST00000379044	ensembl	human	known	74_37	missense	14.29	36	6	SNP	1.000	T
ASPA	443	genome.wustl.edu	37	17	3384928	3384928	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr17:3384928G>T	ENST00000263080.2	+	2	426	c.268G>T	c.(268-270)Gtg>Ttg	p.V90L	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Missense_Mutation_p.V90L	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	90					aspartate catabolic process (GO:0006533)|central nervous system myelination (GO:0022010)|positive regulation of oligodendrocyte differentiation (GO:0048714)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminoacylase activity (GO:0004046)|aspartoacylase activity (GO:0019807)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	GCCATATGAAGTGAGAAGGGC	0.333																																																	0													61.0	59.0	60.0					17																	3384928		2203	4300	6503	SO:0001583	missense	0			S67156	CCDS11028.1	17p13.3	2010-06-24	2010-06-24		ENSG00000108381	ENSG00000108381	3.5.1.15		756	protein-coding gene	gene with protein product	"""aminoacylase 2"", ""Canavan disease"""	608034	"""aspartoacylase (aminoacylase 2, Canavan disease)"""			8252036	Standard	NM_001128085		Approved	ASP, ACY2	uc002fvq.3	P45381	OTTHUMG00000090655	ENST00000263080.2:c.268G>T	17.37:g.3384928G>T	ENSP00000263080:p.Val90Leu			Missense_Mutation	SNP	pfam_Aste_AspA,pirsf_Aspartoacylase	p.V90L	ENST00000263080.2	37	c.268	CCDS11028.1	17	.	.	.	.	.	.	.	.	.	.	g	17.29	3.351469	0.61183	.	.	ENSG00000108381	ENST00000456349;ENST00000263080	D;D	0.98060	-4.69;-4.69	5.62	4.64	0.57946	.	0.054935	0.64402	D	0.000001	D	0.95645	0.8584	M	0.66506	2.035	0.80722	D	1	P	0.44659	0.84	B	0.35607	0.206	D	0.94881	0.8039	10	0.42905	T	0.14	-12.8623	13.4149	0.60963	0.0754:0.0:0.9246:0.0	.	90	P45381	ACY2_HUMAN	L	90	ENSP00000409976:V90L;ENSP00000263080:V90L	ENSP00000263080:V90L	V	+	1	0	ASPA	3331678	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.616000	0.74205	2.817000	0.96982	0.563000	0.77884	GTG	ASPA	-	pfam_Aste_AspA,pirsf_Aspartoacylase	ENSG00000108381		0.333	ASPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPA	HGNC	protein_coding	OTTHUMT00000207315.1	-	0.00	72	0	G	NM_000049		3384928	+1	tier1	-	no_errors	ENST00000263080	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T
ATXN7L1	222255	genome.wustl.edu	37	7	105401875	105401875	+	Intron	SNP	G	G	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr7:105401875G>T	ENST00000419735.3	-	3	401				ATXN7L1_ENST00000478915.1_Silent_p.I79I|ATXN7L1_ENST00000318724.4_Silent_p.I130I	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1											endometrium(1)|large_intestine(4)|lung(5)	10						CACTCCTGGAGATGCCTTCAT	0.443																																																	0													301.0	244.0	263.0					7																	105401875		2203	4300	6503	SO:0001627	intron_variant	0			AB033044	CCDS34727.1, CCDS47682.1, CCDS47683.1	7q22.1	2007-11-13			ENSG00000146776	ENSG00000146776			22210	protein-coding gene	gene with protein product			"""ataxin 7-like 4"""	ATXN7L4		15115762	Standard	NM_152749		Approved	KIAA1218, MGC33190	uc003vde.2	Q9ULK2	OTTHUMG00000157521	ENST00000419735.3:c.355+27174C>A	7.37:g.105401875G>T			A4D0Q2|B4DTS1|Q8N2T0	Silent	SNP	NULL	p.I130	ENST00000419735.3	37	c.390	CCDS47682.1	7																																																																																			ATXN7L1	-	NULL	ENSG00000146776		0.443	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L1	HGNC	protein_coding	OTTHUMT00000349037.2	-	0.00	126	0	G			105401875	-1	tier1	-	no_errors	ENST00000318724	ensembl	human	known	74_37	silent	9.59	132	14	SNP	0.998	T
BCAP29	55973	genome.wustl.edu	37	7	107258830	107258830	+	3'UTR	SNP	A	A	G			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr7:107258830A>G	ENST00000005259.4	+	0	1087				BCAP29_ENST00000465919.1_3'UTR|BCAP29_ENST00000379117.2_3'UTR|BCAP29_ENST00000379119.2_Missense_Mutation_p.N276S|BCAP29_ENST00000445771.2_Missense_Mutation_p.N276S|BCAP29_ENST00000494086.1_3'UTR	NM_018844.3	NP_061332.2	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29						apoptotic process (GO:0006915)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|osteoblast differentiation (GO:0001649)|protein localization to endoplasmic reticulum exit site (GO:0070973)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						GACACTTGCAATATACTGTGT	0.308																																																	0													55.0	60.0	58.0					7																	107258830		2203	4291	6494	SO:0001624	3_prime_UTR_variant	0				CCDS34730.1, CCDS34731.1	7q22.3	2012-09-20			ENSG00000075790	ENSG00000075790			24131	protein-coding gene	gene with protein product						12477932	Standard	NM_018844		Approved	BAP29, DKFZp686M2086	uc011kma.1	Q9UHQ4	OTTHUMG00000154770	ENST00000005259.4:c.*22A>G	7.37:g.107258830A>G			G5E9L4|O95003	Missense_Mutation	SNP	pfam_Bap31	p.N276S	ENST00000005259.4	37	c.827	CCDS34731.1	7	.	.	.	.	.	.	.	.	.	.	A	4.293	0.053541	0.08291	.	.	ENSG00000075790	ENST00000445771;ENST00000379119	.	.	.	4.81	-0.432	0.12291	.	1.985480	0.02805	N	0.123598	T	0.20780	0.0500	N	0.08118	0	0.09310	N	1	B	0.15930	0.015	B	0.19391	0.025	T	0.28396	-1.0045	9	0.87932	D	0	.	4.1964	0.10445	0.4608:0.3493:0.1899:0.0	.	276	G5E9L4	.	S	276	.	ENSP00000368414:N276S	N	+	2	0	BCAP29	107046066	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.091000	0.15046	-0.209000	0.10156	0.533000	0.62120	AAT	BCAP29	-	NULL	ENSG00000075790		0.308	BCAP29-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BCAP29	HGNC	protein_coding	OTTHUMT00000337011.2	-	0.00	53	0	A	NM_018844		107258830	+1	tier1	-	no_errors	ENST00000379119	ensembl	human	known	74_37	missense	51.35	36	38	SNP	0.000	G
BCAR1	9564	genome.wustl.edu	37	16	75271130	75271130	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr16:75271130T>C	ENST00000162330.5	-	3	872	c.746A>G	c.(745-747)tAt>tGt	p.Y249C	BCAR1_ENST00000393422.2_Missense_Mutation_p.Y267C|BCAR1_ENST00000393420.6_Missense_Mutation_p.Y249C|BCAR1_ENST00000546196.1_Missense_Mutation_p.Y220C|BCAR1_ENST00000418647.3_Missense_Mutation_p.Y295C|BCAR1_ENST00000542031.2_Missense_Mutation_p.Y247C|BCAR1_ENST00000535626.2_Missense_Mutation_p.Y101C|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Missense_Mutation_p.Y267C|BCAR1_ENST00000538440.2_Missense_Mutation_p.Y249C	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	249	Substrate for kinases. {ECO:0000250}.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGGCACATCATAGATGTCCTG	0.687																																																	0													16.0	18.0	17.0					16																	75271130		2168	4259	6427	SO:0001583	missense	0			AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.746A>G	16.37:g.75271130T>C	ENSP00000162330:p.Tyr249Cys		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.Y295C	ENST00000162330.5	37	c.884	CCDS10915.1	16	.	.	.	.	.	.	.	.	.	.	T	24.9	4.580170	0.86645	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12;0.12;0.12;0.12	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.73164	0.3552	M	0.67397	2.05	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D;D	0.91635	0.99;0.997;0.995;0.997;0.989;0.999;0.997;0.99;0.993	T	0.76672	-0.2873	10	0.87932	D	0	-17.1617	13.4797	0.61328	0.0:0.0:0.0:1.0	.	267;101;295;247;249;267;249;249;39	B4DIW5;F5GXV6;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945;B3KWE2	.;.;.;.;.;.;.;BCAR1_HUMAN;.	C	249;267;267;249;295;101;249;247;220	ENSP00000162330:Y249C;ENSP00000377074:Y267C;ENSP00000392708:Y267C;ENSP00000443841:Y249C;ENSP00000391669:Y295C;ENSP00000440370:Y101C;ENSP00000377072:Y249C;ENSP00000440415:Y247C;ENSP00000442161:Y220C	ENSP00000162330:Y249C	Y	-	2	0	BCAR1	73828631	1.000000	0.71417	0.990000	0.47175	0.976000	0.68499	5.325000	0.65869	1.945000	0.56424	0.533000	0.62120	TAT	BCAR1	-	NULL	ENSG00000050820		0.687	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCAR1	HGNC	protein_coding	OTTHUMT00000269017.1	-	0.00	52	0	T	NM_014567		75271130	-1	tier1	-	no_errors	ENST00000418647	ensembl	human	known	74_37	missense	16.67	45	9	SNP	0.997	C
BCL9	607	genome.wustl.edu	37	1	147091780	147091780	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:147091780C>G	ENST00000234739.3	+	8	2559	c.1819C>G	c.(1819-1821)Cct>Gct	p.P607A		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	607	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AAATTTTCCTCCTGGCCAGGG	0.542			T	"""IGH@, IGL@"""	B-ALL																																			Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0													71.0	78.0	76.0					1																	147091780		2203	4300	6503	SO:0001583	missense	0			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1819C>G	1.37:g.147091780C>G	ENSP00000234739:p.Pro607Ala		Q5T489	Missense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.P607A	ENST00000234739.3	37	c.1819	CCDS30833.1	1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.296135	0.23650	.	.	ENSG00000116128	ENST00000234739	T	0.54071	0.59	5.41	2.44	0.29823	.	0.273022	0.41294	N	0.000920	T	0.13372	0.0324	N	0.24115	0.695	0.45216	D	0.998224	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.29181	-1.0020	10	0.02654	T	1	-0.8036	10.8236	0.46619	0.0:0.6875:0.2455:0.067	.	607;607	Q1JQ81;O00512	.;BCL9_HUMAN	A	607	ENSP00000234739:P607A	ENSP00000234739:P607A	P	+	1	0	BCL9	145558404	0.999000	0.42202	0.996000	0.52242	0.976000	0.68499	3.135000	0.50546	0.370000	0.24538	-0.258000	0.10820	CCT	BCL9	-	NULL	ENSG00000116128		0.542	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	HGNC	protein_coding	OTTHUMT00000039468.1	-	0.00	109	0	C	NM_004326		147091780	+1	tier1	-	no_errors	ENST00000234739	ensembl	human	known	74_37	missense	5.32	89	5	SNP	0.998	G
BCOR	54880	genome.wustl.edu	37	X	39909246	39909246	+	IGR	SNP	T	T	A	rs373358153		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chrX:39909246T>A	ENST00000378444.4	-	0	6358				BCOR_ENST00000378463.1_Splice_Site	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor						heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGGGACTTCCTGTAAAACAAA	0.413			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																																	Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0																																										SO:0001628	intergenic_variant	0			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100		X.37:g.39909246T>A			D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Splice_Site	SNP	-	e10-2	ENST00000378444.4	37	c.1794-2	CCDS48093.1	X	.	.	.	.	.	.	.	.	.	.	T	7.063	0.566813	0.13560	.	.	ENSG00000183337	ENST00000413905;ENST00000378463	.	.	.	3.4	2.2	0.27929	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.0109	0.19575	0.0:0.0:0.2645:0.7355	.	.	.	.	.	-1	.	.	.	-	.	.	BCOR	39794190	0.022000	0.18835	0.003000	0.11579	0.012000	0.07955	0.763000	0.26517	0.510000	0.28216	0.486000	0.48141	.	BCOR	-	-	ENSG00000183337		0.413	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	HGNC	protein_coding	OTTHUMT00000060666.2	-	0.00	52	0	T	NM_017745		39909246	-1	tier1	-	no_errors	ENST00000378463	ensembl	human	known	74_37	splice_site	52.94	24	27	SNP	0.003	A
C17orf104	284071	genome.wustl.edu	37	17	42745202	42745202	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr17:42745202G>T	ENST00000409122.2	+	5	2065	c.1923G>T	c.(1921-1923)caG>caT	p.Q641H	C17orf104_ENST00000359945.3_Missense_Mutation_p.Q641H|C17orf104_ENST00000409464.1_Missense_Mutation_p.Q475H	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	641										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						TGGAGTCACAGGGTCATTCTA	0.418																																																	0													62.0	63.0	63.0					17																	42745202		2203	4300	6503	SO:0001583	missense	0				CCDS45703.1, CCDS45703.2	17q21.31	2009-09-08			ENSG00000180336	ENSG00000180336			26670	protein-coding gene	gene with protein product							Standard	NM_001145080		Approved	FLJ35848	uc002iha.3	A2RUB1	OTTHUMG00000153039	ENST00000409122.2:c.1923G>T	17.37:g.42745202G>T	ENSP00000386452:p.Gln641His		B4DXJ2|B5MD93|B9EGQ6|C4AM97|Q4G0Y1|Q8IVZ7|Q8NA45	Missense_Mutation	SNP	NULL	p.Q641H	ENST00000409122.2	37	c.1923	CCDS45703.2	17	.	.	.	.	.	.	.	.	.	.	G	12.59	1.985025	0.35036	.	.	ENSG00000180336	ENST00000359945;ENST00000409122;ENST00000409464	T;T;T	0.35605	1.3;1.3;1.31	5.66	0.911	0.19343	.	0.103125	0.43260	D	0.000593	T	0.43166	0.1235	L	0.38175	1.15	0.27281	N	0.958107	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.67382	0.951;0.951;0.951	T	0.28235	-1.0050	10	0.51188	T	0.08	-23.1212	10.2635	0.43441	0.4246:0.0:0.5754:0.0	.	641;641;475	A2RUB1-5;A2RUB1;A2RUB1-1	.;CQ104_HUMAN;.	H	641;641;475	ENSP00000353028:Q641H;ENSP00000386452:Q641H;ENSP00000386586:Q475H	ENSP00000353028:Q641H	Q	+	3	2	C17orf104	40100728	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.792000	0.26929	0.341000	0.23771	0.655000	0.94253	CAG	C17orf104	-	NULL	ENSG00000180336		0.418	C17orf104-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf104	HGNC	protein_coding	OTTHUMT00000329171.2	-	0.00	41	0	G	NM_001145080		42745202	+1	tier1	-	no_errors	ENST00000409122	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.997	T
C1GALT1	56913	genome.wustl.edu	37	7	7278131	7278131	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr7:7278131G>C	ENST00000223122.3	+	2	528	c.466G>C	c.(466-468)Gaa>Caa	p.E156Q	C1GALT1_ENST00000436587.2_Missense_Mutation_p.E156Q|C1GALT1_ENST00000402468.3_Missense_Mutation_p.E156Q			Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1	156					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|kidney development (GO:0001822)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity (GO:0016263)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		GTATGTTCATGAACATTATTT	0.363																																																	0													69.0	69.0	69.0					7																	7278131		2203	4299	6502	SO:0001583	missense	0			AF155582	CCDS5355.1	7p21.3	2014-06-24	2014-06-24		ENSG00000106392	ENSG00000106392	2.4.1.122	"""Beta 3-glycosyltransferases"""	24337	protein-coding gene	gene with protein product	"""core 1 beta3-Gal-T"""	610555				10580128, 11677243	Standard	NM_020156		Approved	C1GALT, T-synthase	uc003srb.3	Q9NS00	OTTHUMG00000151912	ENST00000223122.3:c.466G>C	7.37:g.7278131G>C	ENSP00000223122:p.Glu156Gln		Q96QH4|Q9BTU1	Missense_Mutation	SNP	pfam_Fringe-like,pfam_Glyco_trans_31	p.E156Q	ENST00000223122.3	37	c.466	CCDS5355.1	7	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788544	0.31685	.	.	ENSG00000106392	ENST00000436587;ENST00000223122;ENST00000402468	T;T;T	0.63255	-0.03;-0.03;-0.03	5.42	5.42	0.78866	.	0.194159	0.53938	D	0.000043	T	0.51839	0.1698	N	0.25485	0.75	0.43608	D	0.995979	B;B	0.11235	0.004;0.004	B;B	0.16722	0.015;0.016	T	0.42716	-0.9435	9	.	.	.	-9.7161	19.6053	0.95577	0.0:0.0:1.0:0.0	.	156;156	Q9NS00-2;Q9NS00	.;C1GLT_HUMAN	Q	156	ENSP00000389176:E156Q;ENSP00000223122:E156Q;ENSP00000384550:E156Q	.	E	+	1	0	C1GALT1	7244656	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.636000	0.67848	2.717000	0.92951	0.650000	0.86243	GAA	C1GALT1	-	pfam_Fringe-like,pfam_Glyco_trans_31	ENSG00000106392		0.363	C1GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1GALT1	HGNC	protein_coding	OTTHUMT00000324379.2	-	0.00	52	0	G	NM_020156		7278131	+1	tier1	-	no_errors	ENST00000223122	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	C
CA7	766	genome.wustl.edu	37	16	66887278	66887278	+	Splice_Site	SNP	G	G	C			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr16:66887278G>C	ENST00000338437.2	+	7	781		c.e7-1		RP11-61A14.1_ENST00000551187.1_RNA|CA7_ENST00000394069.3_Splice_Site	NM_005182.2	NP_005173.1	P43166	CAH7_HUMAN	carbonic anhydrase VII						bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of chloride transport (GO:2001225)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	Acetazolamide(DB00819)|Diclofenamide(DB01144)|Methazolamide(DB00703)|Zonisamide(DB00909)	GCTTCCTCAAGATGGGGAAGT	0.582																																																	0													84.0	71.0	75.0					16																	66887278		2200	4300	6500	SO:0001630	splice_region_variant	0				CCDS10821.1, CCDS42173.1	16q22.1	2008-02-05			ENSG00000168748	ENSG00000168748	4.2.1.1	"""Carbonic anhydrases"""	1381	protein-coding gene	gene with protein product		114770				1783392	Standard	XM_005256135		Approved		uc002eqi.3	P43166	OTTHUMG00000137524	ENST00000338437.2:c.673-1G>C	16.37:g.66887278G>C			Q541F0|Q86YU0	Splice_Site	SNP	-	e7-1	ENST00000338437.2	37	c.673-1	CCDS10821.1	16	.	.	.	.	.	.	.	.	.	.	G	14.68	2.606677	0.46527	.	.	ENSG00000168748	ENST00000338437;ENST00000394069	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2032	0.89846	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CA7	65444779	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	8.891000	0.92485	2.720000	0.93068	0.561000	0.74099	.	CA7	-	-	ENSG00000168748		0.582	CA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA7	HGNC	protein_coding	OTTHUMT00000268847.1	-	0.00	62	0	G		Intron	66887278	+1	tier1	-	no_errors	ENST00000338437	ensembl	human	known	74_37	splice_site	7.69	59	5	SNP	1.000	C
CA8	767	genome.wustl.edu	37	8	61178529	61178529	+	Silent	SNP	C	C	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr8:61178529C>T	ENST00000317995.4	-	3	636	c.372G>A	c.(370-372)caG>caA	p.Q124Q		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	124					one-carbon metabolic process (GO:0006730)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasm (GO:0005737)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)			Zonisamide(DB00909)	CAGAACCACGCTGGTTTTCTC	0.378																																																	0													79.0	76.0	77.0					8																	61178529		2203	4300	6503	SO:0001819	synonymous_variant	0			L04656	CCDS6174.1	8q12.1	2012-08-21			ENSG00000178538	ENSG00000178538		"""Carbonic anhydrases"""	1382	protein-coding gene	gene with protein product		114815		CALS		17219437	Standard	NM_004056		Approved	CARP	uc003xtz.1	P35219	OTTHUMG00000165325	ENST00000317995.4:c.372G>A	8.37:g.61178529C>T			A8K0A5|B3KQZ7|Q32MY2	Silent	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.Q124	ENST00000317995.4	37	c.372	CCDS6174.1	8																																																																																			CA8	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000178538		0.378	CA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA8	HGNC	protein_coding	OTTHUMT00000383445.1	-	0.00	36	0	C			61178529	-1	tier1	-	no_errors	ENST00000317995	ensembl	human	known	74_37	silent	33.33	20	10	SNP	1.000	T
CACNA1S	779	genome.wustl.edu	37	1	201042678	201042678	+	Splice_Site	SNP	T	T	C	rs397843806		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:201042678T>C	ENST00000362061.3	-	15	2382	c.2156A>G	c.(2155-2157)aAg>aGg	p.K719R	CACNA1S_ENST00000367338.3_Splice_Site_p.K719R	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	719					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGTGCTCACCTTGGCAGTGGT	0.572																																																	0													348.0	339.0	342.0					1																	201042678		2203	4300	6503	SO:0001630	splice_region_variant	0			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.2157+1A>G	1.37:g.201042678T>C			A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu	p.K719R	ENST00000362061.3	37	c.2156	CCDS1407.1	1	.	.	.	.	.	.	.	.	.	.	T	15.96	2.986776	0.53934	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96334	-3.98;-3.9	4.39	4.39	0.52855	.	2.885770	0.01159	N	0.006615	D	0.95592	0.8567	L	0.57130	1.785	0.47183	D	0.999341	B	0.27594	0.182	B	0.25291	0.059	T	0.80901	-0.1175	10	0.49607	T	0.09	.	12.1691	0.54148	0.0:0.0:0.0:1.0	.	719	Q13698	CAC1S_HUMAN	R	719	ENSP00000355192:K719R;ENSP00000356307:K719R	ENSP00000355192:K719R	K	-	2	0	CACNA1S	199309301	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.230000	0.78097	1.617000	0.50277	0.450000	0.29827	AAG	CACNA1S	-	prints_VDCC_L_a1ssu	ENSG00000081248		0.572	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	HGNC	protein_coding	OTTHUMT00000087049.1	-	0.00	36	0	T	NM_000069	Missense_Mutation	201042678	-1	tier1	-	no_errors	ENST00000362061	ensembl	human	known	74_37	missense	18.52	22	5	SNP	1.000	C
CAPN13	92291	genome.wustl.edu	37	2	31010080	31010080	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr2:31010080C>T	ENST00000295055.8	-	2	288	c.112G>A	c.(112-114)Gag>Aag	p.E38K	CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Missense_Mutation_p.E38K	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	38	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GGGAATGTCTCATCCTTAAAC	0.542																																																	0													47.0	49.0	48.0					2																	31010080		1982	4162	6144	SO:0001583	missense	0				CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.112G>A	2.37:g.31010080C>T	ENSP00000295055:p.Glu38Lys		Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.E38K	ENST00000295055.8	37	c.112	CCDS46252.1	2	.	.	.	.	.	.	.	.	.	.	C	13.24	2.176772	0.38413	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	D;D	0.87966	-2.32;-2.32	5.91	5.04	0.67666	Peptidase C2, calpain, catalytic domain (3);	0.553876	0.20352	N	0.094026	D	0.89413	0.6708	L	0.49571	1.57	0.33459	D	0.584716	D	0.63880	0.993	D	0.63113	0.911	D	0.89993	0.4109	10	0.29301	T	0.29	.	11.0793	0.48051	0.0:0.9152:0.0:0.0848	.	38	Q6MZZ7	CAN13_HUMAN	K	38	ENSP00000295055:E38K;ENSP00000431298:E38K	ENSP00000295055:E38K	E	-	1	0	CAPN13	30863584	1.000000	0.71417	1.000000	0.80357	0.101000	0.19017	2.536000	0.45693	1.517000	0.48917	-0.140000	0.14226	GAG	CAPN13	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	ENSG00000162949		0.542	CAPN13-001	KNOWN	basic|CCDS	protein_coding	CAPN13	HGNC	protein_coding	OTTHUMT00000325101.2	-	0.00	42	0	C	NM_144575		31010080	-1	tier1	-	no_errors	ENST00000295055	ensembl	human	known	74_37	missense	18.75	38	9	SNP	1.000	T
CARS	833	genome.wustl.edu	37	11	3022364	3022364	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr11:3022364G>T	ENST00000397111.5	-	22	2472	c.2227C>A	c.(2227-2229)Cag>Aag	p.Q743K	CARS_ENST00000401769.3_3'UTR|CARS_ENST00000278224.9_3'UTR|CARS_ENST00000470221.2_5'UTR|CARS_ENST00000397114.3_Missense_Mutation_p.Q733K|CARS_ENST00000380525.4_Missense_Mutation_p.Q826K			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	743					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)	p.Q826*(1)|p.Q743*(1)	CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CTTCCATTCTGGGCCATCTGC	0.522			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)			Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	2	Substitution - Nonsense(2)	lung(2)											166.0	151.0	156.0					11																	3022364		2202	4299	6501	SO:0001583	missense	0			AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.2227C>A	11.37:g.3022364G>T	ENSP00000380300:p.Gln743Lys		Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase	p.Q826K	ENST00000397111.5	37	c.2476	CCDS7742.1	11	.	.	.	.	.	.	.	.	.	.	G	15.21	2.764812	0.49574	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000397114	T;T;T	0.41065	1.01;1.02;1.03	4.77	3.83	0.44106	.	0.401276	0.22473	N	0.059585	T	0.38453	0.1041	L	0.47190	1.495	0.80722	D	1	P;B;P	0.45594	0.862;0.027;0.862	B;B;B	0.44278	0.445;0.024;0.445	T	0.09122	-1.0689	10	0.20046	T	0.44	-19.6654	12.5428	0.56182	0.0:0.0:0.8332:0.1668	.	743;826;733	P49589;Q5HYE4;A8MVQ3	SYCC_HUMAN;.;.	K	826;743;733	ENSP00000369897:Q826K;ENSP00000380300:Q743K;ENSP00000380303:Q733K	ENSP00000369897:Q826K	Q	-	1	0	CARS	2978940	1.000000	0.71417	0.018000	0.16275	0.009000	0.06853	8.256000	0.89848	1.169000	0.42739	0.655000	0.94253	CAG	CARS	-	NULL	ENSG00000110619		0.522	CARS-001	KNOWN	basic|CCDS	protein_coding	CARS	HGNC	protein_coding	OTTHUMT00000030117.4		0.00	72	0	G	NM_001751		3022364	-1			no_errors	ENST00000380525	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.971	T
CCDC102A	92922	genome.wustl.edu	37	16	57546752	57546752	+	Silent	SNP	G	G	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr16:57546752G>A	ENST00000258214.2	-	9	1800	c.1554C>T	c.(1552-1554)ctC>ctT	p.L518L		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	518										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TCTTCCCGAAGAGGGGAGCGT	0.637																																																	0													65.0	59.0	61.0					16																	57546752		2198	4300	6498	SO:0001819	synonymous_variant	0			BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.1554C>T	16.37:g.57546752G>A			Q9BT74	Silent	SNP	NULL	p.L518	ENST00000258214.2	37	c.1554	CCDS10784.1	16																																																																																			CCDC102A	-	NULL	ENSG00000135736		0.637	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC102A	HGNC	protein_coding	OTTHUMT00000257348.1	-	0.00	61	0	G	NM_033212		57546752	-1	tier1	-	no_errors	ENST00000258214	ensembl	human	known	74_37	silent	10.71	50	6	SNP	1.000	A
CCDC113	29070	genome.wustl.edu	37	16	58287930	58287930	+	Missense_Mutation	SNP	G	G	A	rs372193450	byFrequency	TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr16:58287930G>A	ENST00000219299.4	+	3	336	c.257G>A	c.(256-258)cGg>cAg	p.R86Q	CCDC113_ENST00000443128.2_Intron	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	86						cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						TCCAAATCCCGGACAGGTATG	0.498													G|||	3	0.000599042	0.0008	0.0	5008	,	,		18345	0.0		0.0	False		,,,				2504	0.002																0								G	GLN/ARG,	1,4395	2.1+/-5.4	0,1,2197	119.0	100.0	106.0		257,	5.3	0.7	16		106	0,8600		0,0,4300	no	missense,intron	CCDC113	NM_014157.3,NM_001142302.1	43,	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,	86/378,	58287930	1,12995	2198	4300	6498	SO:0001583	missense	0			AL136785	CCDS10795.1, CCDS45497.1	16q21	2008-02-05			ENSG00000103021	ENSG00000103021			25002	protein-coding gene	gene with protein product						11230166, 11042152	Standard	NM_014157		Approved	HSPC065, DKFZp434N1418	uc002ene.3	Q9H0I3	OTTHUMG00000133489	ENST00000219299.4:c.257G>A	16.37:g.58287930G>A	ENSP00000219299:p.Arg86Gln		B2RAQ7|B4DR20|Q9NZX2	Missense_Mutation	SNP	NULL	p.R86Q	ENST00000219299.4	37	c.257	CCDS10795.1	16	.	.	.	.	.	.	.	.	.	.	G	19.08	3.756994	0.69648	2.27E-4	0.0	ENSG00000103021	ENST00000219299	T	0.36699	1.24	5.34	5.34	0.76211	.	0.210674	0.47852	D	0.000214	T	0.57036	0.2026	M	0.74258	2.255	0.53688	D	0.999976	D	0.89917	1.0	D	0.80764	0.994	T	0.52638	-0.8549	10	0.16896	T	0.51	-10.0793	14.5397	0.67984	0.0:0.0:1.0:0.0	.	86	Q9H0I3	CC113_HUMAN	Q	86	ENSP00000219299:R86Q	ENSP00000219299:R86Q	R	+	2	0	CCDC113	56845431	1.000000	0.71417	0.688000	0.30117	0.010000	0.07245	4.465000	0.60141	2.486000	0.83907	0.655000	0.94253	CGG	CCDC113	-	NULL	ENSG00000103021		0.498	CCDC113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC113	HGNC	protein_coding	OTTHUMT00000257387.2	-	0.00	149	0	G	NM_014157		58287930	+1	tier1	-	no_errors	ENST00000219299	ensembl	human	known	74_37	missense	11.54	92	12	SNP	0.989	A
CCDC30	728621	genome.wustl.edu	37	1	43102995	43102995	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:43102995G>C	ENST00000340612.4	+	10	1584	c.1584G>C	c.(1582-1584)aaG>aaC	p.K528N	CCDC30_ENST00000428554.2_Missense_Mutation_p.K528N|CCDC30_ENST00000507855.1_Missense_Mutation_p.K317N|CCDC30_ENST00000390640.4_Missense_Mutation_p.K317N|CCDC30_ENST00000342022.4_Missense_Mutation_p.K528N			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	528						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TACGAGATAAGAGAATTAACC	0.318																																																	0													62.0	64.0	64.0					1																	43102995		2203	4299	6502	SO:0001583	missense	0			AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1584G>C	1.37:g.43102995G>C	ENSP00000340378:p.Lys528Asn		Q14F06|Q5VVM5	Missense_Mutation	SNP	NULL	p.K528N	ENST00000340612.4	37	c.1584	CCDS30690.1	1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.437019	0.25900	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.15	1.07	0.20283	.	0.823335	0.11402	N	0.567712	T	0.29620	0.0739	L	0.36672	1.1	0.28750	N	0.901509	B;P	0.47910	0.358;0.902	B;B	0.43301	0.124;0.415	T	0.15292	-1.0442	10	0.25106	T	0.35	.	4.7983	0.13282	0.2685:0.1581:0.5734:0.0	.	528;317	Q5VVM6;Q5VVM6-2	CCD30_HUMAN;.	N	528;317;528;528;317	ENSP00000397035:K528N;ENSP00000426711:K317N;ENSP00000340378:K528N;ENSP00000339280:K528N;ENSP00000375051:K317N	ENSP00000340378:K528N	K	+	3	2	CCDC30	42875582	0.255000	0.24002	0.956000	0.39512	0.372000	0.29890	0.144000	0.16135	0.331000	0.23511	0.555000	0.69702	AAG	CCDC30	-	NULL	ENSG00000186409		0.318	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC30	HGNC	protein_coding	OTTHUMT00000019524.3		0.00	35	0	G	NM_025030		43102995	+1			no_errors	ENST00000340612	ensembl	human	known	74_37	missense	5.00	57	3	SNP	0.975	C
CCDC83	220047	genome.wustl.edu	37	11	85597383	85597383	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr11:85597383G>T	ENST00000342404.3	+	5	700	c.484G>T	c.(484-486)Gtt>Ttt	p.V162F	CCDC83_ENST00000376067.1_Intron|CCDC83_ENST00000280245.4_Missense_Mutation_p.V162F|CCDC83_ENST00000529676.2_Intron			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	162										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CATCAACACAGTTAAAGAGAA	0.363																																																	0													101.0	86.0	91.0					11																	85597383		2203	4299	6502	SO:0001583	missense	0			AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	ENST00000342404.3:c.484G>T	11.37:g.85597383G>T	ENSP00000344512:p.Val162Phe		B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Missense_Mutation	SNP	NULL	p.V162F	ENST00000342404.3	37	c.484		11	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551208	0.65311	.	.	ENSG00000150676	ENST00000280245;ENST00000342404	T;T	0.51817	0.73;0.69	5.09	4.17	0.49024	.	0.195752	0.36409	N	0.002612	T	0.62829	0.2460	M	0.76838	2.35	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.982	T	0.64672	-0.6352	9	.	.	.	-13.7123	5.7535	0.18160	0.0969:0.0:0.7089:0.1941	.	162;162	Q8IWF9;Q8IWF9-2	CCD83_HUMAN;.	F	162	ENSP00000280245:V162F;ENSP00000344512:V162F	.	V	+	1	0	CCDC83	85275031	0.957000	0.32711	0.979000	0.43373	0.990000	0.78478	1.532000	0.36029	2.363000	0.80096	0.650000	0.86243	GTT	CCDC83	-	NULL	ENSG00000150676		0.363	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	CCDC83	HGNC	protein_coding	OTTHUMT00000392215.1		0.00	34	0	G	NM_173556		85597383	+1			no_errors	ENST00000280245	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.864	T
CCT5	22948	genome.wustl.edu	37	5	10254857	10254857	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr5:10254857A>G	ENST00000280326.4	+	3	658	c.238A>G	c.(238-240)Atg>Gtg	p.M80V	CCT5_ENST00000515676.1_Missense_Mutation_p.M42V|CCT5_ENST00000503026.1_Missense_Mutation_p.M59V|CCT5_ENST00000506600.1_Intron|CCT5_ENST00000515390.1_Intron	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	80					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						CATCTTAAGCATGATGGATGT	0.438																																																	0													170.0	145.0	153.0					5																	10254857		2203	4300	6503	SO:0001583	missense	0			D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"""Heat Shock Proteins / Chaperonins"""	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.238A>G	5.37:g.10254857A>G	ENSP00000280326:p.Met80Val		A8JZY8|A8K2X8|B4DYD8	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_epsi	p.M80V	ENST00000280326.4	37	c.238	CCDS3877.1	5	.	.	.	.	.	.	.	.	.	.	A	14.76	2.631990	0.46944	.	.	ENSG00000150753	ENST00000280326;ENST00000503026;ENST00000515676	T;T;T	0.77877	-1.13;-1.13;-1.13	5.64	4.43	0.53597	Chaperonin TCP-1, conserved site (1);	0.034546	0.85682	D	0.000000	T	0.75517	0.3860	M	0.72894	2.215	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.10450	0.005;0.005;0.005	T	0.75545	-0.3280	10	0.72032	D	0.01	-43.2288	11.4575	0.50191	0.8658:0.0:0.0:0.1341	.	78;80;80	Q9BU08;A8K2X8;P48643	.;.;TCPE_HUMAN	V	80;59;42	ENSP00000280326:M80V;ENSP00000423318:M59V;ENSP00000427297:M42V	ENSP00000280326:M80V	M	+	1	0	CCT5	10307857	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.588000	0.67517	2.146000	0.66826	0.524000	0.50904	ATG	CCT5	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,tigrfam_Chap_CCT_epsi	ENSG00000150753		0.438	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT5	HGNC	protein_coding	OTTHUMT00000253688.2	-	0.00	92	0	A			10254857	+1	tier1	-	no_errors	ENST00000280326	ensembl	human	known	74_37	missense	35.06	50	27	SNP	1.000	G
CDC37L1	55664	genome.wustl.edu	37	9	4697769	4697769	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr9:4697769A>G	ENST00000381854.3	+	5	839	c.637A>G	c.(637-639)Atg>Gtg	p.M213V	CDC37L1_ENST00000381858.1_Missense_Mutation_p.M213V	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1	213	Self-association and interaction with Hsp90.					cytoplasm (GO:0005737)				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		AGGGGCTTTAATGGAACAAAT	0.274																																																	0													57.0	56.0	57.0					9																	4697769		2201	4300	6501	SO:0001583	missense	0			AK000497	CCDS6454.1	9p24.1	2013-01-17	2013-01-17		ENSG00000106993	ENSG00000106993			17179	protein-coding gene	gene with protein product		610346	"""CDC37 cell division cycle 37 homolog (S. cerevisiae)-like 1"", ""cell division cycle 37 homolog (S. cerevisiae)-like 1"""				Standard	NM_017913		Approved	HARC, FLJ20639, CDC37B	uc003zio.3	Q7L3B6	OTTHUMG00000019465	ENST00000381854.3:c.637A>G	9.37:g.4697769A>G	ENSP00000371278:p.Met213Val		B1AL70|Q9NWS3|Q9NX16	Missense_Mutation	SNP	pfam_Cdc37_Hsp90-bd	p.M213V	ENST00000381854.3	37	c.637	CCDS6454.1	9	.	.	.	.	.	.	.	.	.	.	A	21.5	4.155448	0.78114	.	.	ENSG00000106993	ENST00000381858;ENST00000381854	T;T	0.47177	0.85;0.85	5.61	5.61	0.85477	Cdc37, Hsp90 binding (1);	0.000000	0.85682	D	0.000000	T	0.67795	0.2931	M	0.76574	2.34	0.80722	D	1	D	0.71674	0.998	D	0.70487	0.969	T	0.68503	-0.5391	10	0.41790	T	0.15	-2.8893	15.7958	0.78409	1.0:0.0:0.0:0.0	.	213	Q7L3B6	CD37L_HUMAN	V	213	ENSP00000371282:M213V;ENSP00000371278:M213V	ENSP00000371278:M213V	M	+	1	0	CDC37L1	4687769	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.842000	0.92136	2.134000	0.65973	0.533000	0.62120	ATG	CDC37L1	-	pfam_Cdc37_Hsp90-bd	ENSG00000106993		0.274	CDC37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC37L1	HGNC	protein_coding	OTTHUMT00000051564.1		0.00	52	0	A	NM_017913		4697769	+1			no_errors	ENST00000381854	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	G
CDC6	990	genome.wustl.edu	37	17	38445741	38445741	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr17:38445741G>C	ENST00000209728.4	+	2	540	c.69G>C	c.(67-69)ttG>ttC	p.L23F		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	23					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						CTCGGGCATTGAACAAAGCTA	0.463																																																	0													106.0	101.0	103.0					17																	38445741		2203	4300	6503	SO:0001583	missense	0			U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"""CDC6 (cell division cycle 6, S. cerevisiae) homolog"", ""CDC6 cell division cycle 6 homolog (S. cerevisiae)"", ""cell division cycle 6 homolog (S. cerevisiae)"""	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.69G>C	17.37:g.38445741G>C	ENSP00000209728:p.Leu23Phe		Q8TB30	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Cell_div_Cdc6/18	p.L23F	ENST00000209728.4	37	c.69	CCDS11365.1	17	.	.	.	.	.	.	.	.	.	.	G	3.935	-0.015314	0.07681	.	.	ENSG00000094804	ENST00000209728	T	0.51574	0.7	4.72	2.6	0.31112	.	1.049470	0.07443	N	0.897621	T	0.33818	0.0876	L	0.51422	1.61	0.09310	N	1	P	0.34780	0.468	B	0.32289	0.143	T	0.28427	-1.0044	10	0.13470	T	0.59	-33.6944	1.0575	0.01593	0.2088:0.1776:0.4296:0.1841	.	23	Q99741	CDC6_HUMAN	F	23	ENSP00000209728:L23F	ENSP00000209728:L23F	L	+	3	2	CDC6	35699267	0.000000	0.05858	0.040000	0.18447	0.032000	0.12392	-0.073000	0.11468	1.217000	0.43442	0.557000	0.71058	TTG	CDC6	-	pirsf_Cell_div_Cdc6/18	ENSG00000094804		0.463	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC6	HGNC	protein_coding	OTTHUMT00000257129.1	-	0.00	84	0	G			38445741	+1	tier1	-	no_errors	ENST00000209728	ensembl	human	known	74_37	missense	10.87	82	10	SNP	0.000	C
CDH10	1008	genome.wustl.edu	37	5	24537678	24537678	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr5:24537678C>T	ENST00000264463.4	-	3	844	c.337G>A	c.(337-339)Gcc>Acc	p.A113T		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	113	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CGCCTTGTGGCATGAATATCA	0.403										HNSCC(23;0.051)																																							0													133.0	124.0	127.0					5																	24537678		2203	4300	6503	SO:0001583	missense	0			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.337G>A	5.37:g.24537678C>T	ENSP00000264463:p.Ala113Thr		Q9ULB3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A113T	ENST00000264463.4	37	c.337	CCDS3892.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.179019	0.94846	.	.	ENSG00000040731	ENST00000264463	T	0.42513	0.97	5.73	5.73	0.89815	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.56247	0.1972	L	0.35542	1.07	0.58432	D	0.999995	D	0.89917	1.0	D	0.78314	0.991	T	0.56074	-0.8039	10	0.59425	D	0.04	.	18.8832	0.92365	0.0:1.0:0.0:0.0	.	113	Q9Y6N8	CAD10_HUMAN	T	113	ENSP00000264463:A113T	ENSP00000264463:A113T	A	-	1	0	CDH10	24573435	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.715000	0.92844	0.563000	0.77884	GCC	CDH10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000040731		0.403	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	-	0.00	83	0	C	NM_006727		24537678	-1	tier1	-	no_errors	ENST00000264463	ensembl	human	known	74_37	missense	13.89	62	10	SNP	1.000	T
CEL	1056	genome.wustl.edu	37	9	135942474	135942474	+	Splice_Site	SNP	G	G	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr9:135942474G>T	ENST00000372080.4	+	7	802		c.e7-1		CEL_ENST00000351304.7_Splice_Site	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase						cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)	p.?(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TCTGCCCCCAGGTGGCTGAGA	0.597																																																	1	Unknown(1)	kidney(1)											43.0	46.0	45.0					9																	135942474		2109	4220	6329	SO:0001630	splice_region_variant	0			M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.787-1G>T	9.37:g.135942474G>T			Q16398|Q5T7U7|Q9UCH1|Q9UP41	Splice_Site	SNP	-	e7-1	ENST00000372080.4	37	c.787-1	CCDS43896.1	9	.	.	.	.	.	.	.	.	.	.	G	14.78	2.636429	0.47049	.	.	ENSG00000170835	ENST00000372080;ENST00000351304;ENST00000303626	.	.	.	5.16	3.29	0.37713	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8533	0.46782	0.1581:0.0:0.8419:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CEL	134932295	1.000000	0.71417	0.370000	0.25965	0.241000	0.25554	9.318000	0.96334	1.175000	0.42826	0.549000	0.68633	.	CEL	-	-	ENSG00000170835		0.597	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEL	HGNC	protein_coding	OTTHUMT00000054823.1	-	0.00	78	0	G		Intron	135942474	+1	tier1	-	no_errors	ENST00000372080	ensembl	human	known	74_37	splice_site	6.25	60	4	SNP	0.984	T
CENPO	79172	genome.wustl.edu	37	2	25038427	25038427	+	Silent	SNP	G	G	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr2:25038427G>T	ENST00000380834.2	+	5	821	c.396G>T	c.(394-396)ggG>ggT	p.G132G	CENPO_ENST00000260662.1_Silent_p.G132G|CENPO_ENST00000473706.1_Silent_p.G126G			Q9BU64	CENPO_HUMAN	centromere protein O	132					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CTTTTGAGGGGAACCTATTGG	0.488																																																	0													178.0	160.0	166.0					2																	25038427		2203	4300	6503	SO:0001819	synonymous_variant	0			AK027859	CCDS1714.1, CCDS56113.1	2p23.3	2013-11-05			ENSG00000138092	ENSG00000138092			28152	protein-coding gene	gene with protein product		611504				16622420, 16622419	Standard	NM_024322		Approved	MGC11266, CENP-O	uc002rfp.2	Q9BU64	OTTHUMG00000125525	ENST00000380834.2:c.396G>T	2.37:g.25038427G>T			B2RDC0|D6W536|Q53T55|Q96JV3	Silent	SNP	pfam_CENP-O	p.G132	ENST00000380834.2	37	c.396	CCDS1714.1	2																																																																																			CENPO	-	pfam_CENP-O	ENSG00000138092		0.488	CENPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPO	HGNC	protein_coding	OTTHUMT00000246856.2	-	0.00	78	0	G	NM_024322		25038427	+1	tier1	-	no_errors	ENST00000260662	ensembl	human	known	74_37	silent	8.79	83	8	SNP	0.972	T
CEP135	9662	genome.wustl.edu	37	4	56837473	56837473	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr4:56837473G>C	ENST00000257287.4	+	10	1272	c.1148G>C	c.(1147-1149)aGt>aCt	p.S383T		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	383					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GAGAGACTGAGTGATGAACTC	0.308																																																	0													52.0	53.0	52.0					4																	56837473		2203	4300	6503	SO:0001583	missense	0			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.1148G>C	4.37:g.56837473G>C	ENSP00000257287:p.Ser383Thr		B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_EB1_C	p.S383T	ENST00000257287.4	37	c.1148	CCDS33986.1	4	.	.	.	.	.	.	.	.	.	.	G	7.339	0.620491	0.14193	.	.	ENSG00000174799	ENST00000257287	T	0.42513	0.97	5.95	-5.45	0.02616	.	0.796593	0.12407	N	0.471659	T	0.21468	0.0517	N	0.16478	0.41	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.28744	-1.0034	10	0.15066	T	0.55	.	12.8891	0.58061	0.6449:0.126:0.2291:0.0	.	383	Q66GS9	CP135_HUMAN	T	383	ENSP00000257287:S383T	ENSP00000257287:S383T	S	+	2	0	CEP135	56532230	0.129000	0.22400	0.695000	0.30226	0.972000	0.66771	-0.419000	0.07071	-1.124000	0.02936	0.491000	0.48974	AGT	CEP135	-	NULL	ENSG00000174799		0.308	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP135	HGNC	protein_coding	OTTHUMT00000362092.2	-	0.00	47	0	G	NM_025009		56837473	+1	tier1	-	no_errors	ENST00000257287	ensembl	human	known	74_37	missense	28.57	30	12	SNP	0.202	C
CEP290	80184	genome.wustl.edu	37	12	88474063	88474063	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr12:88474063G>A	ENST00000552810.1	-	38	5465	c.5122C>T	c.(5122-5124)Ctt>Ttt	p.L1708F	CEP290_ENST00000547691.2_Missense_Mutation_p.L768F|CEP290_ENST00000397838.3_Missense_Mutation_p.L768F|CEP290_ENST00000309041.7_Missense_Mutation_p.L1710F	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1708					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TGAGCCTGAAGTTCAGATTTT	0.373																																																	0													184.0	160.0	168.0					12																	88474063		1838	4086	5924	SO:0001583	missense	0			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.5122C>T	12.37:g.88474063G>A	ENSP00000448012:p.Leu1708Phe		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	NULL	p.L1710F	ENST00000552810.1	37	c.5128	CCDS55858.1	12	.	.	.	.	.	.	.	.	.	.	G	18.24	3.581281	0.65992	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	D;D;D;D	0.91996	-2.95;-2.95;-2.95;-2.95	4.81	0.363	0.16118	.	0.305886	0.30639	N	0.009182	D	0.90868	0.7131	L	0.55481	1.735	0.46113	D	0.998875	D	0.56287	0.975	P	0.55455	0.776	D	0.86635	0.1888	10	0.49607	T	0.09	.	5.0819	0.14661	0.0734:0.1935:0.4992:0.2338	.	1708	O15078	CE290_HUMAN	F	768;1708;1710;768	ENSP00000446905:L768F;ENSP00000448012:L1708F;ENSP00000308021:L1710F;ENSP00000380938:L768F	ENSP00000308021:L1710F	L	-	1	0	CEP290	86998194	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.051000	0.30417	0.113000	0.18004	0.557000	0.71058	CTT	CEP290	-	NULL	ENSG00000198707		0.373	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	HGNC	protein_coding	OTTHUMT00000406344.1	-	0.00	99	0	G	NM_025114		88474063	-1	tier1	-	no_errors	ENST00000309041	ensembl	human	known	74_37	missense	9.43	48	5	SNP	1.000	A
CEP290	80184	genome.wustl.edu	37	12	88512305	88512305	+	Frame_Shift_Del	DEL	T	T	-	rs77980773		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr12:88512305delT	ENST00000552810.1	-	17	2009	c.1666delA	c.(1666-1668)attfs	p.I556fs	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Frame_Shift_Del_p.I558fs	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	556					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.I558fs*20(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						ATTTGACGAATTTTTTTTTTC	0.308																																																	1	Insertion - Frameshift(1)	central_nervous_system(1)	GRCh37	CD073590	CEP290	D	rs77980773						60.0	54.0	56.0					12																	88512305		1798	4051	5849	SO:0001589	frameshift_variant	0			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.1666delA	12.37:g.88512305delT	ENSP00000448012:p.Ile556fs		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Frame_Shift_Del	DEL	NULL	p.I558fs	ENST00000552810.1	37	c.1672	CCDS55858.1	12																																																																																			CEP290	-	NULL	ENSG00000198707		0.308	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	HGNC	protein_coding	OTTHUMT00000406344.1		0.00	57	0	T	NM_025114		88512305	-1	tier1		no_errors	ENST00000309041	ensembl	human	known	74_37	frame_shift_del	22.73	34	10	DEL	0.983	-
CFB	629	genome.wustl.edu	37	6	31914956	31914956	+	Silent	SNP	C	C	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr6:31914956C>A	ENST00000425368.2	+	3	984	c.471C>A	c.(469-471)atC>atA	p.I157I	CFB_ENST00000456570.1_Silent_p.I659I|CFB_ENST00000477310.1_Silent_p.I508I|CFB_ENST00000556679.1_Silent_p.I659I	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	157	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AGACAGCGATCTGTGACAACG	0.597																																																	0													66.0	71.0	69.0					6																	31914956		1511	2709	4220	SO:0001819	synonymous_variant	0			L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"""Complement system"""	1037	protein-coding gene	gene with protein product		138470	"""B-factor, properdin"""	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.471C>A	6.37:g.31914956C>A			B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Silent	SNP	pfam_Peptidase_S1,pfam_VWF_A,pfam_Sushi_SCR_CCP,superfamily_Trypsin-like_Pept_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_VWF_A,smart_Peptidase_S1,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.I659	ENST00000425368.2	37	c.1977	CCDS4729.1	6																																																																																			CFB	-	superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000243649		0.597	CFB-001	KNOWN	basic|CCDS	protein_coding	CFB	HGNC	protein_coding	OTTHUMT00000076395.3		0.00	41	0	C	NM_001710		31914956	+1			no_errors	ENST00000556679	ensembl	human	known	74_37	silent	15.79	16	3	SNP	1.000	A
CHRNA5	1138	genome.wustl.edu	37	15	78882187	78882187	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr15:78882187A>T	ENST00000299565.5	+	5	654	c.454A>T	c.(454-456)Atc>Ttc	p.I152F	CHRNA5_ENST00000559554.1_Missense_Mutation_p.I152F|RP11-650L12.2_ENST00000567141.1_RNA	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	152					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15					Galantamine(DB00674)|Nicotine(DB00184)	GAAAACAGTCATCAGGTACAA	0.393																																																	0													166.0	145.0	152.0					15																	78882187		2196	4293	6489	SO:0001583	missense	0				CCDS10304.1	15q24	2012-02-11	2012-02-07		ENSG00000169684	ENSG00000169684		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1959	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 5 (neuronal)"""	118505	"""cholinergic receptor, nicotinic, alpha polypeptide 5"""			2004777	Standard	NM_000745		Approved		uc002bdy.3	P30532	OTTHUMG00000143858	ENST00000299565.5:c.454A>T	15.37:g.78882187A>T	ENSP00000299565:p.Ile152Phe		Q15824|Q99554	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.I152F	ENST00000299565.5	37	c.454	CCDS10304.1	15	.	.	.	.	.	.	.	.	.	.	A	14.08	2.427301	0.43122	.	.	ENSG00000169684	ENST00000299565;ENST00000394802	D	0.81739	-1.53	5.37	1.4	0.22301	Neurotransmitter-gated ion-channel ligand-binding (3);	0.163400	0.53938	D	0.000050	T	0.81884	0.4917	M	0.88775	2.98	0.35231	D	0.776883	B	0.30068	0.267	B	0.32289	0.143	T	0.82289	-0.0531	10	0.87932	D	0	.	10.5531	0.45101	0.2622:0.0:0.7378:0.0	.	152	P30532	ACHA5_HUMAN	F	152;103	ENSP00000299565:I152F	ENSP00000299565:I152F	I	+	1	0	CHRNA5	76669242	1.000000	0.71417	0.181000	0.23098	0.697000	0.40408	4.126000	0.57937	0.081000	0.16988	-1.836000	0.00589	ATC	CHRNA5	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,tigrfam_Neur_channel	ENSG00000169684		0.393	CHRNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA5	HGNC	protein_coding	OTTHUMT00000290106.1	-	0.00	92	0	A			78882187	+1	tier1	-	no_errors	ENST00000299565	ensembl	human	known	74_37	missense	14.63	70	12	SNP	0.976	T
CLCN2	1181	genome.wustl.edu	37	3	184075806	184075806	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr3:184075806C>G	ENST00000265593.4	-	5	730	c.559G>C	c.(559-561)Gct>Cct	p.A187P	EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Missense_Mutation_p.A143P|CLCN2_ENST00000344937.7_Missense_Mutation_p.A187P|CLCN2_ENST00000475279.1_5'Flank|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000457512.1_Missense_Mutation_p.A187P	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	187					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	ATGACCTTAGCTATAAAGGTC	0.557																																																	0													81.0	77.0	78.0					3																	184075806		2203	4300	6503	SO:0001583	missense	0			S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.559G>C	3.37:g.184075806C>G	ENSP00000265593:p.Ala187Pro		B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl-channel-2	p.A187P	ENST00000265593.4	37	c.559	CCDS3263.1	3	.	.	.	.	.	.	.	.	.	.	c	24.6	4.544938	0.86022	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57	4.45	4.45	0.53987	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.97929	0.9319	M	0.94063	3.49	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.995;0.977;0.999	D	0.99246	1.0886	10	0.87932	D	0	-11.8071	16.8755	0.86051	0.0:1.0:0.0:0.0	.	187;143;187;187;187	B4DYE3;E9PBD9;E9PCD2;P51788-3;P51788	.;.;.;.;CLCN2_HUMAN	P	187;187;143;187	ENSP00000265593:A187P;ENSP00000345056:A187P;ENSP00000400425:A143P;ENSP00000391928:A187P	ENSP00000265593:A187P	A	-	1	0	CLCN2	185558500	1.000000	0.71417	0.943000	0.38184	0.848000	0.48234	7.638000	0.83328	2.308000	0.77769	0.462000	0.41574	GCT	CLCN2	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core	ENSG00000114859		0.557	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCN2	HGNC	protein_coding	OTTHUMT00000345571.1	-	0.00	34	0	C			184075806	-1	tier1	-	no_errors	ENST00000265593	ensembl	human	known	74_37	missense	52.63	9	10	SNP	1.000	G
CNTN1	1272	genome.wustl.edu	37	12	41337880	41337880	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr12:41337880G>T	ENST00000551295.2	+	14	1708	c.1591G>T	c.(1591-1593)Gat>Tat	p.D531Y	CNTN1_ENST00000547849.1_Missense_Mutation_p.D531Y|CNTN1_ENST00000360099.3_Missense_Mutation_p.D531Y|CNTN1_ENST00000348761.2_Missense_Mutation_p.D520Y|CNTN1_ENST00000347616.1_Missense_Mutation_p.D531Y|CNTN1_ENST00000547702.1_Missense_Mutation_p.D531Y	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	531	Ig-like C2-type 6.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TGCGTCCTTTGATCCTGCCTT	0.393																																																	0													159.0	127.0	138.0					12																	41337880		2203	4299	6502	SO:0001583	missense	0			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1591G>T	12.37:g.41337880G>T	ENSP00000447006:p.Asp531Tyr		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.D531Y	ENST00000551295.2	37	c.1591	CCDS8737.1	12	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127775	0.56721	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65;2.65	5.0	5.0	0.66597	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.41511	0.1162	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	T	0.32268	-0.9913	10	0.87932	D	0	.	18.8715	0.92317	0.0:0.0:1.0:0.0	.	531;520;531	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	Y	531;531;531;531;531;520	ENSP00000448004:D531Y;ENSP00000447006:D531Y;ENSP00000448653:D531Y;ENSP00000325660:D531Y;ENSP00000353213:D531Y;ENSP00000261160:D520Y	ENSP00000325660:D531Y	D	+	1	0	CNTN1	39624147	1.000000	0.71417	0.125000	0.21846	0.261000	0.26267	9.000000	0.93564	2.774000	0.95407	0.609000	0.83330	GAT	CNTN1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000018236		0.393	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN1	HGNC	protein_coding	OTTHUMT00000403692.2	-	0.00	51	0	G	NM_001843		41337880	+1	tier1	-	no_errors	ENST00000347616	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T
CNTN6	27255	genome.wustl.edu	37	3	1363426	1363426	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr3:1363426C>A	ENST00000446702.2	+	8	1481	c.854C>A	c.(853-855)cCg>cAg	p.P285Q	CNTN6_ENST00000539053.1_Missense_Mutation_p.P213Q|CNTN6_ENST00000350110.2_Missense_Mutation_p.P285Q			Q9UQ52	CNTN6_HUMAN	contactin 6	285	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CTTGAAATCCCGAACTTCCAA	0.458																																																	0													127.0	130.0	129.0					3																	1363426		2203	4299	6502	SO:0001583	missense	0			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.854C>A	3.37:g.1363426C>A	ENSP00000407822:p.Pro285Gln		Q2KHM2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P285Q	ENST00000446702.2	37	c.854	CCDS2557.1	3	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473808	0.84640	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.64618	-0.11;-0.11;-0.11	5.9	5.03	0.67393	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.100000	0.44902	D	0.000411	T	0.66076	0.2753	L	0.27053	0.805	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.62369	-0.6869	10	0.22109	T	0.4	.	13.1186	0.59313	0.0:0.9268:0.0:0.0732	.	285	Q9UQ52	CNTN6_HUMAN	Q	285;213;285	ENSP00000407822:P285Q;ENSP00000442791:P213Q;ENSP00000341882:P285Q	ENSP00000341882:P285Q	P	+	2	0	CNTN6	1338426	0.999000	0.42202	0.998000	0.56505	0.982000	0.71751	4.276000	0.58933	1.499000	0.48617	0.650000	0.86243	CCG	CNTN6	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000134115		0.458	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN6	HGNC	protein_coding	OTTHUMT00000239235.2		0.00	30	0	C	NM_014461		1363426	+1			no_errors	ENST00000350110	ensembl	human	known	74_37	missense	10.71	25	3	SNP	0.998	A
COL28A1	340267	genome.wustl.edu	37	7	7572463	7572463	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr7:7572463G>A	ENST00000399429.3	-	2	184	c.44C>T	c.(43-45)gCg>gTg	p.A15V		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	15					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		ACTCGTAAACGCTGACAAAAG	0.348																																																	0													138.0	127.0	130.0					7																	7572463		1861	4111	5972	SO:0001583	missense	0			AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.44C>T	7.37:g.7572463G>A	ENSP00000382356:p.Ala15Val		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m	p.A15V	ENST00000399429.3	37	c.44	CCDS43553.1	7	.	.	.	.	.	.	.	.	.	.	G	3.198	-0.164241	0.06502	.	.	ENSG00000215018	ENST00000399429;ENST00000399419;ENST00000448652	D	0.88354	-2.37	4.39	3.51	0.40186	.	0.653399	0.12897	U	0.430131	T	0.77157	0.4089	N	0.14661	0.345	0.18873	N	0.999984	B	0.16166	0.016	B	0.09377	0.004	T	0.61792	-0.6990	10	0.19590	T	0.45	-2.6641	8.0434	0.30534	0.2365:0.0:0.7635:0.0	.	15	Q2UY09	COSA1_HUMAN	V	15	ENSP00000382356:A15V	ENSP00000382347:A15V	A	-	2	0	COL28A1	7538988	0.087000	0.21565	0.993000	0.49108	0.038000	0.13279	1.092000	0.30927	1.229000	0.43630	0.563000	0.77884	GCG	COL28A1	-	NULL	ENSG00000215018		0.348	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL28A1	HGNC	protein_coding	OTTHUMT00000315899.1	-	0.00	13	0	G	NM_001037763		7572463	-1	tier1	-	no_errors	ENST00000399429	ensembl	human	known	74_37	missense	21.05	15	4	SNP	0.398	A
COL2A1	1280	genome.wustl.edu	37	12	48380220	48380220	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr12:48380220C>T	ENST00000380518.3	-	23	1590	c.1426G>A	c.(1426-1428)Gct>Act	p.A476T	COL2A1_ENST00000337299.6_Missense_Mutation_p.A407T|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	476	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TGGGGGCCAGCAGGGCCCTGA	0.612																																																	0													7.0	8.0	7.0					12																	48380220		2150	4214	6364	SO:0001583	missense	0			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.1426G>A	12.37:g.48380220C>T	ENSP00000369889:p.Ala476Thr		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.A476T	ENST00000380518.3	37	c.1426	CCDS41778.1	12	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424103	0.62733	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.93604	-3.25;-3.25	4.87	3.98	0.46160	.	0.307194	0.28700	N	0.014434	D	0.88793	0.6533	L	0.37697	1.125	0.38971	D	0.958741	B;B	0.29162	0.197;0.235	B;B	0.28139	0.051;0.086	D	0.86477	0.1789	10	0.35671	T	0.21	.	12.5553	0.56250	0.0:0.9173:0.0:0.0827	.	407;476	P02458-1;P02458	.;CO2A1_HUMAN	T	476;407;407	ENSP00000369889:A476T;ENSP00000338213:A407T	ENSP00000338213:A407T	A	-	1	0	COL2A1	46666487	0.010000	0.17322	0.998000	0.56505	0.899000	0.52679	0.907000	0.28531	1.274000	0.44362	0.561000	0.74099	GCT	COL2A1	-	NULL	ENSG00000139219		0.612	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL2A1	HGNC	protein_coding	OTTHUMT00000313810.2	-	0.00	47	0	C	NM_001844		48380220	-1	tier1	-	no_errors	ENST00000380518	ensembl	human	known	74_37	missense	15.00	51	9	SNP	0.999	T
COL5A2	1290	genome.wustl.edu	37	2	189917478	189917478	+	Silent	SNP	C	C	T	rs372869641		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr2:189917478C>T	ENST00000374866.3	-	40	2986	c.2712G>A	c.(2710-2712)ccG>ccA	p.P904P		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	904					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AACTTACAGGCGGACCTTGGG	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		18584	0.001		0.0	False		,,,				2504	0.0																0								C		1,4405	2.1+/-5.4	0,1,2202	75.0	77.0	76.0		2712	-0.0	1.0	2		76	0,8600		0,0,4300	no	coding-synonymous	COL5A2	NM_000393.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		904/1500	189917478	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.2712G>A	2.37:g.189917478C>T			P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.P904	ENST00000374866.3	37	c.2712	CCDS33350.1	2																																																																																			COL5A2	-	NULL	ENSG00000204262		0.408	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A2	HGNC	protein_coding	OTTHUMT00000313523.1	-	0.00	40	0	C	NM_000393		189917478	-1	tier1	-	no_errors	ENST00000374866	ensembl	human	known	74_37	silent	33.33	32	16	SNP	0.998	T
COMP	1311	genome.wustl.edu	37	19	18899660	18899660	+	Silent	SNP	G	G	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr19:18899660G>A	ENST00000222271.2	-	6	635	c.591C>T	c.(589-591)tgC>tgT	p.C197C	COMP_ENST00000542601.2_Silent_p.C164C|COMP_ENST00000425807.1_Silent_p.C144C	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	197	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GGGTGTTGATGCACACGGAGT	0.672																																																	0													79.0	73.0	75.0					19																	18899660		2203	4300	6503	SO:0001819	synonymous_variant	0			L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"""thrombospondin-5"""	600310	"""cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"""	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.591C>T	19.37:g.18899660G>A			B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Silent	SNP	pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd_dom,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.C197	ENST00000222271.2	37	c.591	CCDS12385.1	19																																																																																			COMP	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000105664		0.672	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMP	HGNC	protein_coding	OTTHUMT00000403457.1		0.00	31	0	G	NM_000095		18899660	-1			no_errors	ENST00000222271	ensembl	human	known	74_37	silent	10.34	26	3	SNP	1.000	A
CPED1	79974	genome.wustl.edu	37	7	120906460	120906460	+	Silent	SNP	G	G	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr7:120906460G>A	ENST00000310396.5	+	19	2957	c.2490G>A	c.(2488-2490)ttG>ttA	p.L830L		NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	830						endoplasmic reticulum (GO:0005783)											GCCCTTCATTGAGACCAACAT	0.398																																																	0													160.0	145.0	150.0					7																	120906460		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.2490G>A	7.37:g.120906460G>A			A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Silent	SNP	NULL	p.L830	ENST00000310396.5	37	c.2490	CCDS34739.1	7																																																																																			CPED1	-	NULL	ENSG00000106034		0.398	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPED1	HGNC	protein_coding	OTTHUMT00000346959.1		0.00	79	0	G	NM_024913		120906460	+1			no_errors	ENST00000310396	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.995	A
CSMD2	114784	genome.wustl.edu	37	1	34164367	34164367	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:34164367A>G	ENST00000373380.1	-	3	750	c.530T>C	c.(529-531)cTg>cCg	p.L177P	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.L1304P			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1264	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACAGGTGGGCAGAGGCCGGTC	0.607																																																	0													61.0	63.0	62.0					1																	34164367		2203	4300	6503	SO:0001583	missense	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.530T>C	1.37:g.34164367A>G	ENSP00000362478:p.Leu177Pro		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.L1304P	ENST00000373380.1	37	c.3911		1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.430881	0.83776	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.65549	-0.16;-0.16	5.76	5.76	0.90799	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.72145	0.3424	L	0.43646	1.37	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.97110	1.0;0.995;0.99	T	0.68945	-0.5275	10	0.30078	T	0.28	.	15.5474	0.76118	1.0:0.0:0.0:0.0	.	177;1264;1304	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	P	1304;177	ENSP00000362479:L1304P;ENSP00000362478:L177P	ENSP00000241312:L1264P	L	-	2	0	CSMD2	33936954	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.480000	0.81109	2.322000	0.78497	0.528000	0.53228	CTG	CSMD2	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000121904		0.607	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	HGNC	protein_coding	OTTHUMT00000030635.4	-	0.00	31	0	A	NM_052896		34164367	-1	tier1	-	no_errors	ENST00000373381	ensembl	human	known	74_37	missense	24.24	25	8	SNP	1.000	G
CSMD3	114788	genome.wustl.edu	37	8	113326823	113326823	+	Missense_Mutation	SNP	G	G	A	rs199998952	byFrequency	TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr8:113326823G>A	ENST00000297405.5	-	48	7628	c.7384C>T	c.(7384-7386)Cgg>Tgg	p.R2462W	CSMD3_ENST00000343508.3_Missense_Mutation_p.R2422W|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2392W|CSMD3_ENST00000455883.2_Missense_Mutation_p.R2358W	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2462	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAATCTAGCCGTAATTCATTG	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													59.0	57.0	58.0					8																	113326823		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7384C>T	8.37:g.113326823G>A	ENSP00000297405:p.Arg2462Trp		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.R2462W	ENST00000297405.5	37	c.7384	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	28.1	4.886973	0.91814	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.25579	2.09;2.09;2.11;1.79;2.11	4.98	4.98	0.66077	CUB (3);	0.000000	0.64402	D	0.000003	T	0.50154	0.1599	M	0.69185	2.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.99;0.994;0.994	T	0.41448	-0.9508	10	0.38643	T	0.18	.	18.4156	0.90568	0.0:0.0:1.0:0.0	.	2358;2462;2422	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	W	2422;2462;1732;2358;2392	ENSP00000345799:R2422W;ENSP00000297405:R2462W;ENSP00000341558:R1732W;ENSP00000412263:R2358W;ENSP00000343124:R2392W	ENSP00000297405:R2462W	R	-	1	2	CSMD3	113395999	1.000000	0.71417	0.957000	0.39632	0.968000	0.65278	7.798000	0.85924	2.576000	0.86940	0.579000	0.79373	CGG	CSMD3	-	superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000164796		0.383	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0.00	40	0	G	NM_052900		113326823	-1	tier1	rs199998952	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	25.00	39	13	SNP	1.000	A
CTNND1	1500	genome.wustl.edu	37	11	57583408	57583408	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr11:57583408C>G	ENST00000399050.4	+	20	3366	c.2830C>G	c.(2830-2832)Ctg>Gtg	p.L944V	CTNND1_ENST00000361391.6_Missense_Mutation_p.L917V|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000361796.4_Intron|CTNND1_ENST00000524630.1_Intron|CTNND1_ENST00000532787.1_Missense_Mutation_p.L816V|CTNND1_ENST00000530748.1_Intron|CTNND1_ENST00000358694.6_Intron|CTNND1_ENST00000534579.1_Intron|CTNND1_ENST00000532463.1_Intron|CTNND1_ENST00000526357.1_Missense_Mutation_p.L884V|CTNND1_ENST00000531014.1_Missense_Mutation_p.L615V|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000532245.1_Intron|CTNND1_ENST00000360682.6_Missense_Mutation_p.L923V|CTNND1_ENST00000527467.1_Missense_Mutation_p.L621V|CTNND1_ENST00000530094.1_Missense_Mutation_p.L837V|CTNND1_ENST00000532844.1_Missense_Mutation_p.L890V|CTNND1_ENST00000528232.1_Intron|CTNND1_ENST00000526938.1_Intron|CTNND1_ENST00000533667.1_Missense_Mutation_p.L594V|CTNND1_ENST00000529526.1_Intron|CTNND1_ENST00000415361.2_Missense_Mutation_p.L843V|CTNND1_ENST00000399039.4_Intron|CTNND1_ENST00000428599.2_Intron|CTNND1_ENST00000529919.1_Intron|CTNND1_ENST00000426142.2_Intron|CTNND1_ENST00000529986.1_Intron|CTNND1_ENST00000529873.1_Missense_Mutation_p.L863V|CTNND1_ENST00000361332.4_Missense_Mutation_p.L938V|CTNND1_ENST00000532649.1_Intron|CTNND1_ENST00000528621.1_Intron	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	944					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				GCAGGAATCTCTGGAGGAAGA	0.493																																																	0													74.0	79.0	77.0					11																	57583408		1942	4135	6077	SO:0001583	missense	0			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.2830C>G	11.37:g.57583408C>G	ENSP00000382004:p.Leu944Val		A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.L944V	ENST00000399050.4	37	c.2830	CCDS44604.1	11	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998017	0.54147	.	.	ENSG00000198561	ENST00000360682;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532787;ENST00000533667;ENST00000527467;ENST00000531014;ENST00000529873;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361	T;T;T;T;T;T;T;T;T;T;T;T;T	0.78003	-0.77;-0.29;-0.76;-0.29;-0.69;-1.14;-0.54;-0.54;-0.79;-0.29;-0.29;-0.27;-0.27	6.17	4.3	0.51218	.	0.407817	0.20352	N	0.094040	T	0.58395	0.2119	N	0.14661	0.345	0.80722	D	1	P;P;B;B;B;P	0.39847	0.691;0.565;0.373;0.373;0.373;0.691	B;B;B;B;B;B	0.35353	0.201;0.099;0.146;0.146;0.146;0.201	T	0.53746	-0.8395	10	0.25751	T	0.34	-4.5115	10.2681	0.43466	0.0:0.8464:0.0:0.1536	.	938;944;837;864;884;923	O60716-2;O60716;O60716-18;O60716-14;O60716-10;F8WA43	.;CTND1_HUMAN;.;.;.;.	V	923;944;917;938;816;594;621;615;863;890;884;837;843	ENSP00000353902:L923V;ENSP00000382004:L944V;ENSP00000354785:L917V;ENSP00000354823:L938V;ENSP00000434949:L816V;ENSP00000437051:L594V;ENSP00000434900:L621V;ENSP00000432623:L615V;ENSP00000435494:L863V;ENSP00000433276:L890V;ENSP00000433334:L884V;ENSP00000437327:L837V;ENSP00000403518:L843V	ENSP00000353902:L923V	L	+	1	2	CTNND1	57339984	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.607000	0.36836	0.923000	0.37045	0.655000	0.94253	CTG	CTNND1	-	NULL	ENSG00000198561		0.493	CTNND1-006	KNOWN	basic|CCDS	protein_coding	CTNND1	HGNC	protein_coding	OTTHUMT00000393944.1	-	0.00	107	0	C	NM_001331		57583408	+1	tier1	-	no_errors	ENST00000399050	ensembl	human	known	74_37	missense	7.14	78	6	SNP	1.000	G
CYSLTR2	57105	genome.wustl.edu	37	13	49281211	49281211	+	Silent	SNP	G	G	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr13:49281211G>T	ENST00000282018.3	+	1	261	c.258G>T	c.(256-258)ctG>ctT	p.L86L		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	86					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	CAGATCTCCTGTTCATAAGCA	0.428																																																	0													92.0	89.0	90.0					13																	49281211		2203	4300	6503	SO:0001819	synonymous_variant	0			AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"""GPCR / Class A : Leukotriene receptors"""	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.258G>T	13.37:g.49281211G>T			Q9HCQ2	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_CLT2_recept,prints_Cyst_leuk_rcpt,prints_Protea_act_rcpt	p.L86	ENST00000282018.3	37	c.258	CCDS9412.1	13																																																																																			CYSLTR2	-	pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000152207		0.428	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYSLTR2	HGNC	protein_coding	OTTHUMT00000044894.1	-	0.00	40	0	G			49281211	+1	tier1	-	no_errors	ENST00000282018	ensembl	human	known	74_37	silent	10.71	25	3	SNP	0.992	T
DCC	1630	genome.wustl.edu	37	18	51025708	51025708	+	Silent	SNP	G	G	C			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr18:51025708G>C	ENST00000442544.2	+	27	4555	c.3939G>C	c.(3937-3939)ctG>ctC	p.L1313L	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Silent_p.L946L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1313					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CACCTATGCTGCCCCCATCTC	0.507																																																	0													178.0	146.0	157.0					18																	51025708		2203	4300	6503	SO:0001819	synonymous_variant	0			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3939G>C	18.37:g.51025708G>C				Silent	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L1313	ENST00000442544.2	37	c.3939	CCDS11952.1	18																																																																																			DCC	-	pfam_Neogenin_C	ENSG00000187323		0.507	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	-	0.00	104	0	G	NM_005215		51025708	+1	tier1	-	no_errors	ENST00000442544	ensembl	human	known	74_37	silent	23.19	53	16	SNP	1.000	C
DCHS2	54798	genome.wustl.edu	37	4	155226327	155226327	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr4:155226327C>G	ENST00000357232.4	-	16	3951	c.3952G>C	c.(3952-3954)Gag>Cag	p.E1318Q		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1318	Cadherin 11. {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)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAATTTATCTCGAATAATTCA	0.368																																																	0													43.0	44.0	44.0					4																	155226327		2203	4300	6503	SO:0001583	missense	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3952G>C	4.37:g.155226327C>G	ENSP00000349768:p.Glu1318Gln		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E1318Q	ENST00000357232.4	37	c.3952	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	c	0.076	-1.193168	0.01607	.	.	ENSG00000197410	ENST00000357232	T	0.53206	0.63	6.03	-8.94	0.00768	Cadherin (4);Cadherin-like (1);	1.153500	0.06271	N	0.695581	T	0.27313	0.0670	N	0.20807	0.61	0.34526	D	0.70871	B	0.06786	0.001	B	0.15870	0.014	T	0.21484	-1.0244	10	0.13108	T	0.6	.	13.495	0.61421	0.0:0.0878:0.4526:0.4597	.	1318	Q6V1P9	PCD23_HUMAN	Q	1318	ENSP00000349768:E1318Q	ENSP00000349768:E1318Q	E	-	1	0	DCHS2	155445777	0.022000	0.18835	0.002000	0.10522	0.013000	0.08279	-0.768000	0.04715	-1.572000	0.01661	-1.832000	0.00591	GAG	DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197410		0.368	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	-	0.00	30	0	C	NM_001142552		155226327	-1	tier1	-	no_errors	ENST00000357232	ensembl	human	known	74_37	missense	16.22	31	6	SNP	0.038	G
DCHS2	54798	genome.wustl.edu	37	4	155298454	155298454	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr4:155298454C>T	ENST00000357232.4	-	3	376	c.377G>A	c.(376-378)aGg>aAg	p.R126K	DCHS2_ENST00000339452.1_Missense_Mutation_p.R732K	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	126	Cadherin 1. {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)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATCCCTTTCCCTGTCGATATC	0.423																																																	0													139.0	127.0	131.0					4																	155298454		2203	4300	6503	SO:0001583	missense	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.377G>A	4.37:g.155298454C>T	ENSP00000349768:p.Arg126Lys		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R126K	ENST00000357232.4	37	c.377	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706243	0.68615	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.59224	0.28;0.28	5.64	4.8	0.61643	Cadherin (5);Cadherin-like (1);	0.160729	0.42294	N	0.000725	T	0.68632	0.3022	M	0.88310	2.945	0.80722	D	1	P;B	0.38827	0.649;0.37	P;B	0.46452	0.517;0.114	T	0.69143	-0.5223	10	0.33940	T	0.23	.	10.2373	0.43290	0.0:0.8478:0.0:0.1522	.	732;126	E9PC11;Q6V1P9	.;PCD23_HUMAN	K	126;732;732	ENSP00000349768:R126K;ENSP00000345062:R732K	ENSP00000345062:R732K	R	-	2	0	DCHS2	155517904	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	2.732000	0.47352	1.392000	0.46585	0.561000	0.74099	AGG	DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000197410		0.423	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	-	0.00	53	0	C	NM_001142552		155298454	-1	tier1	-	no_errors	ENST00000357232	ensembl	human	known	74_37	missense	12.50	42	6	SNP	1.000	T
DEPDC7	91614	genome.wustl.edu	37	11	33047376	33047376	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr11:33047376A>G	ENST00000241051.3	+	2	337	c.245A>G	c.(244-246)aAt>aGt	p.N82S	DEPDC7_ENST00000311388.3_Missense_Mutation_p.N73S	NM_001077242.1	NP_001070710.1	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	82	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						CTAATTCAGAATAAGTATTTT	0.398																																																	0													166.0	155.0	159.0					11																	33047376		1871	4114	5985	SO:0001583	missense	0				CCDS41632.1, CCDS41633.1	11p13	2006-03-24			ENSG00000121690	ENSG00000121690			29899	protein-coding gene	gene with protein product		612294				10568747	Standard	NM_001077242		Approved		uc001mub.3	Q96QD5	OTTHUMG00000166242	ENST00000241051.3:c.245A>G	11.37:g.33047376A>G	ENSP00000241051:p.Asn82Ser		G5E941|Q8N602|Q8NCU9|Q9UGK5	Missense_Mutation	SNP	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.N82S	ENST00000241051.3	37	c.245	CCDS41632.1	11	.	.	.	.	.	.	.	.	.	.	A	19.44	3.827870	0.71143	.	.	ENSG00000121690	ENST00000241051;ENST00000311388	T;T	0.17054	2.3;2.3	6.04	6.04	0.98038	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.044196	0.85682	D	0.000000	T	0.32102	0.0818	L	0.45422	1.42	0.48452	D	0.999656	D;P;P;D	0.67145	0.991;0.536;0.831;0.996	P;B;B;P	0.61397	0.888;0.425;0.284;0.887	T	0.00800	-1.1561	10	0.41790	T	0.15	-3.916	16.5763	0.84648	1.0:0.0:0.0:0.0	.	82;82;73;82	B4DJ78;B4DH51;G5E941;Q96QD5	.;.;.;DEPD7_HUMAN	S	82;73	ENSP00000241051:N82S;ENSP00000308971:N73S	ENSP00000241051:N82S	N	+	2	0	DEPDC7	33003952	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.000000	0.63940	2.317000	0.78254	0.459000	0.35465	AAT	DEPDC7	-	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	ENSG00000121690		0.398	DEPDC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEPDC7	HGNC	protein_coding	OTTHUMT00000388655.1	-	0.00	83	0	A	NM_139160		33047376	+1	tier1	-	no_errors	ENST00000241051	ensembl	human	known	74_37	missense	17.54	47	10	SNP	1.000	G
DNAJA3	9093	genome.wustl.edu	37	16	4493076	4493076	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr16:4493076G>A	ENST00000262375.6	+	6	919	c.842G>A	c.(841-843)cGc>cAc	p.R281H	DNAJA3_ENST00000355296.4_Missense_Mutation_p.R281H|DNAJA3_ENST00000431375.2_Missense_Mutation_p.R128H	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	281					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation-induced cell death of T cells (GO:0006924)|cell aging (GO:0007569)|mitochondrial DNA replication (GO:0006264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of programmed cell death (GO:0043069)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell proliferation (GO:0042102)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|response to heat (GO:0009408)|response to interferon-gamma (GO:0034341)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation in thymus (GO:0033077)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of plasma membrane (GO:0019897)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|interferon-gamma receptor binding (GO:0005133)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|small GTPase regulator activity (GO:0005083)|transcription factor binding (GO:0008134)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						TGTGGTGGCCGCGGCTCCATC	0.517																																																	0													104.0	85.0	91.0					16																	4493076		2197	4300	6497	SO:0001583	missense	0			AF061749	CCDS10515.1, CCDS45400.1, CCDS66930.1	16p13.3	2011-09-02			ENSG00000103423	ENSG00000103423		"""Heat shock proteins / DNAJ (HSP40)"""	11808	protein-coding gene	gene with protein product		608382		TID1		9683573	Standard	NM_005147		Approved	hTid-1	uc002cwk.3	Q96EY1	OTTHUMG00000129470	ENST00000262375.6:c.842G>A	16.37:g.4493076G>A	ENSP00000262375:p.Arg281His		B2RAJ5|B4DI33|E7ES32|O75472|Q8WUJ6|Q8WXJ3|Q96D76|Q96IV1|Q9NYH8	Missense_Mutation	SNP	pfam_DnaJ_domain,pfam_DnaJ_C,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain	p.R281H	ENST00000262375.6	37	c.842	CCDS10515.1	16	.	.	.	.	.	.	.	.	.	.	G	16.44	3.122734	0.56613	.	.	ENSG00000103423	ENST00000262375;ENST00000355296;ENST00000431375	T;T;T	0.64618	-0.11;-0.11;0.89	5.92	4.96	0.65561	HSP40/DnaJ peptide-binding (1);Heat shock protein DnaJ, cysteine-rich domain (4);	0.052867	0.64402	D	0.000001	T	0.49898	0.1584	L	0.42686	1.345	0.47153	D	0.99933	P;B;B	0.34724	0.465;0.286;0.175	B;B;B	0.26202	0.067;0.035;0.041	T	0.56475	-0.7973	10	0.87932	D	0	-9.3518	10.8646	0.46847	0.1435:0.0:0.8565:0.0	.	128;281;281	E7ES32;Q96EY1-2;Q96EY1	.;.;DNJA3_HUMAN	H	281;281;128	ENSP00000262375:R281H;ENSP00000347445:R281H;ENSP00000393970:R128H	ENSP00000262375:R281H	R	+	2	0	DNAJA3	4433077	1.000000	0.71417	0.992000	0.48379	0.974000	0.67602	4.611000	0.61162	2.804000	0.96469	0.655000	0.94253	CGC	DNAJA3	-	pfam_HSP_DnaJ_Cys-rich_dom,superfamily_HSP_DnaJ_Cys-rich_dom,superfamily_HSP40/DnaJ_pept-bd,pfscan_HSP_DnaJ_Cys-rich_dom	ENSG00000103423		0.517	DNAJA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNAJA3	HGNC	protein_coding	OTTHUMT00000251633.1	-	0.00	76	0	G			4493076	+1	tier1	-	no_errors	ENST00000262375	ensembl	human	known	74_37	missense	8.25	89	8	SNP	0.968	A
DNMT3L	29947	genome.wustl.edu	37	21	45668946	45668946	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr21:45668946C>T	ENST00000418993.1	-	11	1441	c.958G>A	c.(958-960)Gct>Act	p.A320T	AP001059.5_ENST00000442785.1_RNA|DNMT3L_ENST00000270172.3_Missense_Mutation_p.A320T	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	320					chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		ACGCGGACAGCATTCTGCAAG	0.627																																																	0													62.0	49.0	53.0					21																	45668946		2203	4300	6503	SO:0001583	missense	0			AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"""cytosine-5-methyltransferase 3-like protein"", ""human cytosine-5-methyltransferase 3-like protein"""	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.958G>A	21.37:g.45668946C>T	ENSP00000412862:p.Ala320Thr		E9PB42|Q9BUJ4	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.A320T	ENST00000418993.1	37	c.958	CCDS46650.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.62|12.62	1.992041|1.992041	0.35131|0.35131	.|.	.|.	ENSG00000142182|ENSG00000142182	ENST00000270172;ENST00000418993|ENST00000436357	T;T|.	0.37584|.	1.19;1.19|.	3.02|3.02	3.02|3.02	0.34903|0.34903	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.44973|0.44973	0.1319|0.1319	L|L	0.55103|0.55103	1.725|1.725	0.09310|0.09310	N|N	0.999999|0.999999	B;B|.	0.29037|.	0.231;0.231|.	B;B|.	0.24701|.	0.055;0.055|.	T|T	0.28332|0.28332	-1.0047|-1.0047	10|5	0.48119|.	T|.	0.1|.	-21.3631|-21.3631	9.7642|9.7642	0.40550|0.40550	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	320;320|.	Q9UJW3-2;Q9UJW3|.	.;DNM3L_HUMAN|.	T|I	320|114	ENSP00000270172:A320T;ENSP00000412862:A320T|.	ENSP00000270172:A320T|.	A|M	-|-	1|3	0|0	DNMT3L|DNMT3L	44493374|44493374	0.415000|0.415000	0.25416|0.25416	0.035000|0.035000	0.18076|0.18076	0.004000|0.004000	0.04260|0.04260	1.904000|1.904000	0.39868|0.39868	2.003000|2.003000	0.58678|0.58678	0.557000|0.557000	0.71058|0.71058	GCT|ATG	DNMT3L	-	NULL	ENSG00000142182		0.627	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	DNMT3L	HGNC	protein_coding	OTTHUMT00000195820.1		0.00	79	0	C	NM_013369		45668946	-1			no_errors	ENST00000270172	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.035	T
DPYD	1806	genome.wustl.edu	37	1	97771791	97771791	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:97771791delA	ENST00000370192.3	-	17	2221	c.2121delT	c.(2119-2121)tttfs	p.F707fs	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	707					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TCAGCTTGGCAAAAAAAGGAA	0.428																																																	0													171.0	169.0	170.0					1																	97771791		2203	4300	6503	SO:0001589	frameshift_variant	0			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2121delT	1.37:g.97771791delA	ENSP00000359211:p.Phe707fs		A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Frame_Shift_Del	DEL	pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH	p.F707fs	ENST00000370192.3	37	c.2121	CCDS30777.1	1																																																																																			DPYD	-	pfam_Dihydroorotate_DH_1_2,pfam_tRNA_hU_synthase,tigrfam_Dihydroorotate_DH	ENSG00000188641		0.428	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYD	HGNC	protein_coding	OTTHUMT00000095698.3		0.00	33	0	A	NM_000110		97771791	-1	tier1		no_errors	ENST00000370192	ensembl	human	known	74_37	frame_shift_del	5.26	36	2	DEL	1.000	-
DRC1	92749	genome.wustl.edu	37	2	26653551	26653551	+	Intron	SNP	T	T	C			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr2:26653551T>C	ENST00000288710.2	+	6	752				DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1						axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											TTTTTCTATGTGGTTGGTGAT	0.408																																																	0																																										SO:0001627	intron_variant	0			AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.679-103T>C	2.37:g.26653551T>C			A8K1N8|Q53R91|Q53TA3|Q8NDI5	RNA	SNP	-	NULL	ENST00000288710.2	37	NULL	CCDS1723.1	2																																																																																			DRC1	-	-	ENSG00000157856		0.408	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRC1	HGNC	protein_coding	OTTHUMT00000246862.1	-	0.00	88	0	T	NM_145038		26653551	+1	tier1	-	no_errors	ENST00000483675	ensembl	human	known	74_37	rna	20.27	59	15	SNP	0.000	C
DST	667	genome.wustl.edu	37	6	56426280	56426280	+	Silent	SNP	G	G	C			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr6:56426280G>C	ENST00000361203.3	-	53	13510	c.13503C>G	c.(13501-13503)ctC>ctG	p.L4501L	DST_ENST00000446842.2_Silent_p.L4177L|DST_ENST00000244364.6_Silent_p.L2089L|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Silent_p.L2415L|DST_ENST00000421834.2_Silent_p.L2415L|DST_ENST00000370754.5_Silent_p.L4681L|DST_ENST00000370769.4_Silent_p.L4503L			Q03001	DYST_HUMAN	dystonin	4501					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTTGTCCTTGAGTAAGAGGC	0.368																																																	0													189.0	168.0	175.0					6																	56426280		1884	4100	5984	SO:0001819	synonymous_variant	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.13503C>G	6.37:g.56426280G>C			B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.L4681	ENST00000361203.3	37	c.14043		6																																																																																			DST	-	superfamily_ABC1_TM_dom	ENSG00000151914		0.368	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	-	0.00	79	0	G	NM_001723		56426280	-1	tier1	-	no_errors	ENST00000370754	ensembl	human	known	74_37	silent	5.56	102	6	SNP	1.000	C
E2F7	144455	genome.wustl.edu	37	12	77440035	77440035	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr12:77440035C>G	ENST00000322886.7	-	5	847	c.612G>C	c.(610-612)aaG>aaC	p.K204N	E2F7_ENST00000416496.2_Missense_Mutation_p.K204N	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	204					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CATACTGATTCTTAGCCACCC	0.512																																																	0													97.0	94.0	95.0					12																	77440035		2203	4300	6503	SO:0001583	missense	0			BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.612G>C	12.37:g.77440035C>G	ENSP00000323246:p.Lys204Asn		A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	pfam_E2F_TDP	p.K204N	ENST00000322886.7	37	c.612	CCDS9016.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.953458|3.953458	0.73902|0.73902	.|.	.|.	ENSG00000165891|ENSG00000165891	ENST00000322886;ENST00000416496;ENST00000550669|ENST00000551058	T;T;T|.	0.48522|.	1.03;0.81;0.85|.	6.17|6.17	4.06|4.06	0.47325|0.47325	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81098|0.81098	0.4752|0.4752	M|M	0.93898|0.93898	3.47|3.47	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	D|D	0.85190|0.85190	0.1009|0.1009	10|5	0.87932|.	D|.	0|.	-25.7523|-25.7523	10.8953|10.8953	0.47019|0.47019	0.0:0.7824:0.0:0.2176|0.0:0.7824:0.0:0.2176	.|.	204;204|.	F8VSE7;Q96AV8|.	.;E2F7_HUMAN|.	N|T	204|82	ENSP00000323246:K204N;ENSP00000393639:K204N;ENSP00000448245:K204N|.	ENSP00000323246:K204N|.	K|R	-|-	3|2	2|0	E2F7|E2F7	75964166|75964166	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.022000|1.022000	0.30052|0.30052	1.627000|1.627000	0.50400|0.50400	0.655000|0.655000	0.94253|0.94253	AAG|AGA	E2F7	-	pfam_E2F_TDP	ENSG00000165891		0.512	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F7	HGNC	protein_coding	OTTHUMT00000406716.1	-	0.00	78	0	C	XM_084871		77440035	-1	tier1	-	no_errors	ENST00000322886	ensembl	human	known	74_37	missense	8.47	54	5	SNP	1.000	G
ECEL1	9427	genome.wustl.edu	37	2	233347866	233347866	+	Silent	SNP	G	G	T	rs182355168	byFrequency	TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr2:233347866G>T	ENST00000304546.1	-	9	1740	c.1530C>A	c.(1528-1530)gtC>gtA	p.V510V	ECEL1_ENST00000409941.1_Silent_p.V510V	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	510					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		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;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCGGGTAGCCGACCATCACCA	0.652																																																	0													48.0	32.0	38.0					2																	233347866		2203	4299	6502	SO:0001819	synonymous_variant	0			Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"""damage induced neuronal endopeptidase"""	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1530C>A	2.37:g.233347866G>T			Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Silent	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.V510	ENST00000304546.1	37	c.1530	CCDS2493.1	2																																																																																			ECEL1	-	pfam_Peptidase_M13_N	ENSG00000171551		0.652	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ECEL1	HGNC	protein_coding	OTTHUMT00000257039.2	-	0.00	84	0	G	NM_004826		233347866	-1	tier1	-	no_errors	ENST00000304546	ensembl	human	known	74_37	silent	6.56	57	4	SNP	0.037	T
ECT2L	345930	genome.wustl.edu	37	6	139170415	139170415	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr6:139170415G>A	ENST00000423192.1	+	8	1074	c.913G>A	c.(913-915)Gag>Aag	p.E305K	ECT2L_ENST00000367682.2_Missense_Mutation_p.E305K|ECT2L_ENST00000541398.1_Missense_Mutation_p.E236K			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	305							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						GATGGTGATGGAGAGTGTGAA	0.408			"""N, Splice, Mis"""		ETP ALL																																			Rec	yes		6	6q24.1	345930	epithelial cell transforming sequence 2 oncogene-like		L	0													210.0	192.0	197.0					6																	139170415		1873	4111	5984	SO:0001583	missense	0				CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.913G>A	6.37:g.139170415G>A	ENSP00000387388:p.Glu305Lys		B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	pfam_DH-domain,pfam_F-box_dom,superfamily_DH-domain,superfamily_F-box_dom,smart_DH-domain,pfscan_DH-domain	p.E305K	ENST00000423192.1	37	c.913	CCDS43508.1	6	.	.	.	.	.	.	.	.	.	.	G	9.070	0.996645	0.19043	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.75477	0.16;0.16;-0.94	5.6	4.71	0.59529	.	117.348000	0.02817	U	0.125042	T	0.51449	0.1675	L	0.29908	0.895	0.25662	N	0.985985	B;B	0.23249	0.082;0.049	B;B	0.25140	0.058;0.016	T	0.49184	-0.8966	10	0.62326	D	0.03	0.1838	10.8343	0.46677	0.0918:0.0:0.9082:0.0	.	236;305	F5H7S9;Q008S8	.;ECT2L_HUMAN	K	305;305;236	ENSP00000387388:E305K;ENSP00000356655:E305K;ENSP00000442307:E236K	ENSP00000356655:E305K	E	+	1	0	ECT2L	139212108	1.000000	0.71417	0.764000	0.31436	0.011000	0.07611	1.579000	0.36536	1.458000	0.47871	0.591000	0.81541	GAG	ECT2L	-	NULL	ENSG00000203734		0.408	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECT2L	HGNC	protein_coding	OTTHUMT00000042441.3	-	0.00	78	0	G	NM_001077706		139170415	+1	tier1	-	no_errors	ENST00000367682	ensembl	human	known	74_37	missense	7.58	61	5	SNP	1.000	A
EDC4	23644	genome.wustl.edu	37	16	67914539	67914539	+	Missense_Mutation	SNP	G	G	A	rs151306360		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr16:67914539G>A	ENST00000358933.5	+	18	2416	c.2177G>A	c.(2176-2178)cGc>cAc	p.R726H	AC040162.1_ENST00000408599.1_RNA|CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	726					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)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TCCCCTAGCCGCACTCGTTCC	0.622																																																	0								G	HIS/ARG	0,4396		0,0,2198	168.0	166.0	167.0		2177	5.5	1.0	16	dbSNP_134	167	1,8599	1.2+/-3.3	0,1,4299	no	missense	EDC4	NM_014329.3	29	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	726/1402	67914539	1,12995	2198	4300	6498	SO:0001583	missense	0			U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.2177G>A	16.37:g.67914539G>A	ENSP00000351811:p.Arg726His		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R726H	ENST00000358933.5	37	c.2177	CCDS10849.1	16	.	.	.	.	.	.	.	.	.	.	G	34	5.307039	0.95629	0.0	1.16E-4	ENSG00000038358	ENST00000358933	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.68293	0.2985	L	0.32530	0.975	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.67608	-0.5627	9	0.44086	T	0.13	-17.8941	18.9123	0.92490	0.0:0.0:1.0:0.0	.	726	Q6P2E9	EDC4_HUMAN	H	726	.	ENSP00000351811:R726H	R	+	2	0	EDC4	66472040	1.000000	0.71417	0.993000	0.49108	0.969000	0.65631	9.359000	0.97115	2.560000	0.86352	0.591000	0.81541	CGC	EDC4	-	NULL	ENSG00000038358		0.622	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC4	HGNC	protein_coding	OTTHUMT00000268874.2	-	0.00	77	0	G	NM_014329		67914539	+1	tier1	rs151306360	no_errors	ENST00000358933	ensembl	human	known	74_37	missense	25.61	60	21	SNP	1.000	A
ATR	545	genome.wustl.edu	37	3	142184164	142184164	+	Intron	DEL	A	A	-	rs78538255		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr3:142184164delA	ENST00000350721.4	-	41	7019				RP11-383G6.3_ENST00000460977.1_RNA|ATR_ENST00000383101.3_Intron	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase						cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TGAGTTATGTAAAAAAAAAAA	0.244								Other conserved DNA damage response genes																																									0																																										SO:0001627	intron_variant	0			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.6898-82T>-	3.37:g.142184164delA			Q59HB2|Q7KYL3|Q93051|Q9BXK4	RNA	DEL	-	NULL	ENST00000350721.4	37	NULL	CCDS3124.1	3																																																																																			RP11-383G6.3	-	-	ENSG00000244327		0.244	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000244327	Clone_based_vega_gene	protein_coding	OTTHUMT00000353995.2		0.00	22	0	A	NM_001184		142184164	-1	tier1		no_errors	ENST00000460977	ensembl	human	known	74_37	rna	11.54	23	3	DEL	0.001	-
EPB41L4A	64097	genome.wustl.edu	37	5	111481696	111481696	+	Splice_Site	SNP	C	C	T	rs17134155	byFrequency	TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr5:111481696C>T	ENST00000507810.1	-	13	994		c.e13-1					Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		tctggacaccctgttaaagaa	0.448													T|||	1202	0.240016	0.5461	0.1254	5008	,	,		17623	0.0575		0.1779	False		,,,				2504	0.1595																0																																										SO:0001630	splice_region_variant	0			AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000507810.1:c.1559-1G>A	5.37:g.111481696C>T			A4FUI6	Splice_Site	SNP	-	NULL	ENST00000507810.1	37	c.NULL		5																																																																																			EPB41L4A	-	-	ENSG00000129595		0.448	EPB41L4A-007	KNOWN	basic	processed_transcript	EPB41L4A	HGNC	protein_coding	OTTHUMT00000370975.1		0.00	80	0	C		Intron	111481696	-1			no_errors	ENST00000507810	ensembl	human	known	74_37	splice_site	5.17	54	3	SNP	0.000	T
ESYT1	23344	genome.wustl.edu	37	12	56536626	56536626	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr12:56536626G>A	ENST00000394048.5	+	27	3160	c.2896G>A	c.(2896-2898)Gag>Aag	p.E966K	ESYT1_ENST00000541590.1_Missense_Mutation_p.E976K|ESYT1_ENST00000267113.4_Missense_Mutation_p.E976K|ESYT1_ENST00000550878.1_3'UTR	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	966					lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CAGTCCCCTTGAGGCTCCAGC	0.522																																																	0													60.0	66.0	64.0					12																	56536626		2203	4300	6503	SO:0001583	missense	0			AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.2896G>A	12.37:g.56536626G>A	ENSP00000377612:p.Glu966Lys		A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom	p.E976K	ENST00000394048.5	37	c.2926	CCDS8904.1	12	.	.	.	.	.	.	.	.	.	.	G	11.18	1.562103	0.27915	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.54479	0.58;0.57;0.57	5.08	4.15	0.48705	C2 calcium/lipid-binding domain, CaLB (1);	0.680225	0.13674	N	0.370652	T	0.39600	0.1084	L	0.34521	1.04	0.09310	N	0.99999	B;B	0.23249	0.082;0.035	B;B	0.25140	0.058;0.027	T	0.22417	-1.0217	10	0.09084	T	0.74	-11.89	11.5764	0.50864	0.0:0.1807:0.8193:0.0	.	976;966	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	K	966;920;976;976	ENSP00000377612:E966K;ENSP00000267113:E976K;ENSP00000445952:E976K	ENSP00000267113:E976K	E	+	1	0	ESYT1	54822893	0.446000	0.25665	0.015000	0.15790	0.112000	0.19704	2.464000	0.45067	1.230000	0.43646	0.561000	0.74099	GAG	ESYT1	-	superfamily_C2_dom	ENSG00000139641		0.522	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ESYT1	HGNC	protein_coding	OTTHUMT00000407906.1	-	0.00	42	0	G	NM_015292		56536626	+1	tier1	-	no_errors	ENST00000267113	ensembl	human	known	74_37	missense	17.65	14	3	SNP	0.086	A
F7	2155	genome.wustl.edu	37	13	113765088	113765088	+	Missense_Mutation	SNP	C	C	G	rs546856641		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr13:113765088C>G	ENST00000375581.3	+	3	250	c.215C>G	c.(214-216)tCc>tGc	p.S72C	F7_ENST00000541084.1_Intron|F7_ENST00000473085.1_3'UTR|F7_ENST00000346342.3_Missense_Mutation_p.S50C	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	72	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CGGCCGGGCTCCCTGGAGAGG	0.692													C|||	1	0.000199681	0.0	0.0	5008	,	,		12711	0.0		0.0	False		,,,				2504	0.001																0													15.0	12.0	13.0					13																	113765088		2084	4122	6206	SO:0001583	missense	0				CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"""eptacog alfa"", ""FVII coagulation protein"", ""factor VII"""	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.215C>G	13.37:g.113765088C>G	ENSP00000364731:p.Ser72Cys		B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Missense_Mutation	SNP	pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_Peptidase_S1A_nudel,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1	p.S72C	ENST00000375581.3	37	c.215	CCDS9528.1	13	.	.	.	.	.	.	.	.	.	.	c	13.65	2.301966	0.40694	.	.	ENSG00000057593	ENST00000346342;ENST00000375581	D;D	0.99201	-5.55;-5.55	4.47	1.54	0.23209	Gamma-carboxyglutamic acid-rich (GLA) domain (5);Coagulation factor, subgroup, Gla domain (1);	0.239141	0.35525	N	0.003147	D	0.99048	0.9674	M	0.88570	2.965	0.09310	N	0.999998	D;D	0.76494	0.998;0.999	D;D	0.69479	0.912;0.964	D	0.96345	0.9254	10	0.87932	D	0	.	7.0861	0.25257	0.4365:0.4841:0.0:0.0794	.	50;72	P08709-2;P08709	.;FA7_HUMAN	C	50;72	ENSP00000329546:S50C;ENSP00000364731:S72C	ENSP00000329546:S50C	S	+	2	0	F7	112813089	0.000000	0.05858	0.059000	0.19551	0.478000	0.33099	0.454000	0.21827	0.312000	0.23038	0.503000	0.49774	TCC	F7	-	pirsf_Pept_S1A_FX,pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,prints_GLA_domain,pfscan_GLA_domain	ENSG00000057593		0.692	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	F7	HGNC	protein_coding	OTTHUMT00000045838.4	-	0.00	58	0	C	NM_000131		113765088	+1	tier1	-	no_errors	ENST00000375581	ensembl	human	known	74_37	missense	23.33	23	7	SNP	0.022	G
FAM149A	25854	genome.wustl.edu	37	4	187075717	187075717	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr4:187075717G>T	ENST00000356371.5	+	6	1181	c.1181G>T	c.(1180-1182)cGt>cTt	p.R394L	FAM149A_ENST00000514153.1_Missense_Mutation_p.R103L|FAM149A_ENST00000227065.4_Missense_Mutation_p.R103L|FAM149A_ENST00000503432.1_Missense_Mutation_p.R103L|FAM149A_ENST00000389354.5_Missense_Mutation_p.R103L|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000502970.1_Missense_Mutation_p.R103L			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	394										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		CTAACGGCACGTTCATCCCTG	0.473																																																	0													103.0	97.0	99.0					4																	187075717		2203	4300	6503	SO:0001583	missense	0			AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.1181G>T	4.37:g.187075717G>T	ENSP00000348732:p.Arg394Leu		B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Missense_Mutation	SNP	pfam_DUF3719	p.R394L	ENST00000356371.5	37	c.1181		4	.	.	.	.	.	.	.	.	.	.	G	4.335	0.061594	0.08339	.	.	ENSG00000109794	ENST00000503432;ENST00000356371;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354	T;T;T;T;T;T	0.10763	2.84;2.84;2.84;2.84;2.84;2.84	4.75	0.791	0.18619	.	1.615380	0.03223	N	0.177853	T	0.05410	0.0143	N	0.08118	0	0.09310	N	1	B;B;B	0.17038	0.02;0.002;0.001	B;B;B	0.20184	0.028;0.003;0.001	T	0.35251	-0.9796	10	0.11485	T	0.65	0.2474	3.7978	0.08746	0.4802:0.0:0.3483:0.1715	.	394;394;103	A5PLN7-3;A5PLN7;B4DHZ9	.;F149A_HUMAN;.	L	103;394;103;103;103;103	ENSP00000426835:R103L;ENSP00000348732:R394L;ENSP00000227065:R103L;ENSP00000427155:R103L;ENSP00000424380:R103L;ENSP00000374005:R103L	ENSP00000227065:R103L	R	+	2	0	FAM149A	187312711	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.004000	0.12878	0.300000	0.22699	-0.263000	0.10527	CGT	FAM149A	-	NULL	ENSG00000109794		0.473	FAM149A-201	KNOWN	basic	protein_coding	FAM149A	HGNC	protein_coding			0.00	40	0	G	NM_001006655		187075717	+1			no_errors	ENST00000356371	ensembl	human	known	74_37	missense	8.47	54	5	SNP	0.000	T
FAM21C	253725	genome.wustl.edu	37	10	46272800	46272800	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr10:46272800C>G	ENST00000336378.4	+	22	2334	c.2216C>G	c.(2215-2217)tCt>tGt	p.S739C	FAM21C_ENST00000359860.4_Missense_Mutation_p.S683C|FAM21C_ENST00000540872.1_Missense_Mutation_p.S741C|FAM21C_ENST00000374362.2_Missense_Mutation_p.S741C|FAM21C_ENST00000537517.1_Intron	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	739					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GGAGTGAAGTCTGTGGATAAG	0.423																																																	0													132.0	131.0	131.0					10																	46272800		1808	4044	5852	SO:0001583	missense	0				CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.2216C>G	10.37:g.46272800C>G	ENSP00000337541:p.Ser739Cys		B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	NULL	p.S741C	ENST00000336378.4	37	c.2222		10	.	.	.	.	.	.	.	.	.	.	C	8.973	0.973494	0.18736	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000436993	.	.	.	3.01	1.98	0.26296	.	0.933535	0.09120	N	0.845878	T	0.42200	0.1192	L	0.40543	1.245	0.09310	N	1	P;P	0.42123	0.771;0.771	P;P	0.49276	0.605;0.605	T	0.33007	-0.9885	9	0.59425	D	0.04	-2.3969	6.6478	0.22945	0.283:0.717:0.0:0.0	.	741;739	Q9Y4E1-4;Q9Y4E1	.;FA21C_HUMAN	C	739;741;741;741;683;653	.	ENSP00000337541:S739C	S	+	2	0	FAM21C	45592806	0.003000	0.15002	0.045000	0.18777	0.233000	0.25261	1.201000	0.32259	1.719000	0.51432	0.289000	0.19496	TCT	FAM21C	-	NULL	ENSG00000172661		0.423	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	FAM21C	HGNC	protein_coding		-	0.00	89	0	C			46272800	+1	tier1	-	no_errors	ENST00000374362	ensembl	human	known	74_37	missense	19.79	77	19	SNP	0.132	G
FAM53C	51307	genome.wustl.edu	37	5	137681156	137681156	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr5:137681156G>T	ENST00000239906.5	+	4	1207	c.779G>T	c.(778-780)tGg>tTg	p.W260L	RP11-256P1.1_ENST00000504539.1_RNA|FAM53C_ENST00000513056.1_Missense_Mutation_p.G70C|FAM53C_ENST00000434981.2_Missense_Mutation_p.W260L	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	260								p.W260fs*44(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GAGCTGCCCTGGCGACCTCGA	0.677																																																	1	Deletion - Frameshift(1)	breast(1)											48.0	56.0	53.0					5																	137681156		2203	4300	6503	SO:0001583	missense	0			AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"""chromosome 5 open reading frame 6"""	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.779G>T	5.37:g.137681156G>T	ENSP00000239906:p.Trp260Leu		B2RDJ5|D3DQB9	Missense_Mutation	SNP	NULL	p.W260L	ENST00000239906.5	37	c.779	CCDS4204.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.67|11.67	1.706545|1.706545	0.30232|0.30232	.|.	.|.	ENSG00000120709|ENSG00000120709	ENST00000513056|ENST00000434981;ENST00000239906	T|T;T	0.56776|0.41758	0.44|0.99;0.99	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.165527	.|0.44902	.|D	.|0.000401	T|T	0.36276|0.36276	0.0961|0.0961	L|L	0.36672|0.36672	1.1|1.1	0.27901|0.27901	N|N	0.938975|0.938975	D|B	0.89917|0.20988	1.0|0.05	D|B	0.80764|0.13407	0.994|0.009	T|T	0.18903|0.18903	-1.0322|-1.0322	9|10	0.59425|0.41790	D|T	0.04|0.15	-6.5972|-6.5972	17.0466|17.0466	0.86505|0.86505	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	70|260	D6RE00|Q9NYF3	.|FA53C_HUMAN	C|L	70|260	ENSP00000425154:G70C|ENSP00000403705:W260L;ENSP00000239906:W260L	ENSP00000425154:G70C|ENSP00000239906:W260L	G|W	+|+	1|2	0|0	FAM53C|FAM53C	137709055|137709055	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.988000|2.988000	0.49386|0.49386	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GGC|TGG	FAM53C	-	NULL	ENSG00000120709		0.677	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM53C	HGNC	protein_coding	OTTHUMT00000251278.2		0.00	41	0	G	NM_016605		137681156	+1			no_errors	ENST00000239906	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T
FAT3	120114	genome.wustl.edu	37	11	92532190	92532190	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr11:92532190T>C	ENST00000298047.6	+	9	6028	c.6011T>C	c.(6010-6012)gTc>gCc	p.V2004A	FAT3_ENST00000409404.2_Missense_Mutation_p.V2004A|FAT3_ENST00000525166.1_Missense_Mutation_p.V1854A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2004	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTTGCTATTGTCAATGCAGTT	0.408										TCGA Ovarian(4;0.039)																																							0													148.0	143.0	145.0					11																	92532190		1905	4124	6029	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6011T>C	11.37:g.92532190T>C	ENSP00000298047:p.Val2004Ala		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,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,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.V2004A	ENST00000298047.6	37	c.6011		11	.	.	.	.	.	.	.	.	.	.	T	17.81	3.481559	0.63849	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.58210	0.35;0.35;0.35	5.82	5.82	0.92795	.	.	.	.	.	T	0.78616	0.4311	M	0.92317	3.295	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.81758	-0.0786	9	0.39692	T	0.17	.	16.1832	0.81925	0.0:0.0:0.0:1.0	.	2004	Q8TDW7-3	.	A	2004;2004;1854	ENSP00000298047:V2004A;ENSP00000387040:V2004A;ENSP00000432586:V1854A	ENSP00000298047:V2004A	V	+	2	0	FAT3	92171838	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.975000	0.88055	2.228000	0.72767	0.533000	0.62120	GTC	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.408	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0.00	37	0	T	NM_001008781		92532190	+1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	44.44	25	20	SNP	1.000	C
FCGR2A	2212	genome.wustl.edu	37	1	161487943	161487943	+	3'UTR	SNP	T	T	C			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:161487943T>C	ENST00000271450.6	+	0	997				RP11-25K21.6_ENST00000537821.2_RNA|FCGR2A_ENST00000367972.4_3'UTR|FCGR2A_ENST00000486608.1_3'UTR	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AACTAAAGAGTAACGTTATGC	0.423																																																	0													87.0	84.0	85.0					1																	161487943		2202	4300	6502	SO:0001624	3_prime_UTR_variant	0			J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3616	protein-coding gene	gene with protein product	"""Immunoglobulin G Fc receptor II"""	146790	"""Fc fragment of IgG, low affinity IIa, receptor for (CD32)"""	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.*5T>C	1.37:g.161487943T>C			Q8WUN1|Q8WW64	RNA	SNP	-	NULL	ENST00000271450.6	37	NULL	CCDS44264.1	1																																																																																			FCGR2A	-	-	ENSG00000143226		0.423	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCGR2A	HGNC	protein_coding	OTTHUMT00000083318.3	-	0.00	36	0	T	NM_021642		161487943	+1	tier1	-	no_errors	ENST00000461298	ensembl	human	known	74_37	rna	12.50	35	5	SNP	0.005	C
FHOD1	29109	genome.wustl.edu	37	16	67265981	67265981	+	Silent	SNP	G	G	C			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr16:67265981G>C	ENST00000258201.4	-	14	2410	c.2163C>G	c.(2161-2163)ctC>ctG	p.L721L		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	721	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.|Interaction with ROCK1.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CATCAAAGTTGAGCAGAGCAG	0.567																																																	0													164.0	117.0	133.0					16																	67265981		2198	4300	6498	SO:0001819	synonymous_variant	0			AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.2163C>G	16.37:g.67265981G>C			Q59F76|Q6Y1F2|Q76MS8|Q8N521	Silent	SNP	pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin	p.L721	ENST00000258201.4	37	c.2163	CCDS10834.1	16																																																																																			FHOD1	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000135723		0.567	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHOD1	HGNC	protein_coding	OTTHUMT00000268844.2	-	0.00	105	0	G			67265981	-1	tier1	-	no_errors	ENST00000258201	ensembl	human	known	74_37	silent	5.10	93	5	SNP	1.000	C
FRMD4A	55691	genome.wustl.edu	37	10	13749049	13749049	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr10:13749049T>A	ENST00000357447.2	-	13	1192	c.824A>T	c.(823-825)cAt>cTt	p.H275L	FRMD4A_ENST00000358621.4_Missense_Mutation_p.H260L|AL157392.1_ENST00000410303.1_RNA|FRMD4A_ENST00000378503.1_Missense_Mutation_p.H275L|FRMD4A_ENST00000492155.1_5'UTR|FRMD4A_ENST00000342409.2_Missense_Mutation_p.H291L	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	275	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GCGTGGGTCATGAACTTCCAC	0.458																																																	0													72.0	70.0	70.0					10																	13749049		2203	4300	6503	SO:0001583	missense	0			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.824A>T	10.37:g.13749049T>A	ENSP00000350032:p.His275Leu		A7E2Y3|Q5T377	Missense_Mutation	SNP	pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.H275L	ENST00000357447.2	37	c.824	CCDS7101.1	10	.	.	.	.	.	.	.	.	.	.	T	12.72	2.024018	0.35701	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546;ENST00000342409	D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09	5.36	5.36	0.76844	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.81202	0.4773	L	0.29908	0.895	0.80722	D	1	B;B;B	0.30973	0.034;0.302;0.066	B;B;B	0.36766	0.063;0.232;0.102	T	0.76503	-0.2935	10	0.09843	T	0.71	-14.193	15.0409	0.71791	0.0:0.0:0.0:1.0	.	291;308;275	Q5T378;Q5T376;Q9P2Q2	.;.;FRM4A_HUMAN	L	260;275;275;308;291	ENSP00000351438:H260L;ENSP00000350032:H275L;ENSP00000367764:H275L;ENSP00000264546:H308L;ENSP00000344237:H291L	ENSP00000264546:H308L	H	-	2	0	FRMD4A	13789055	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.921000	0.87530	2.037000	0.60232	0.533000	0.62120	CAT	FRMD4A	-	pfam_FERM_PH-like_C,pfscan_FERM_domain	ENSG00000151474		0.458	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRMD4A	HGNC	protein_coding	OTTHUMT00000046889.1	-	0.00	60	0	T	NM_018027		13749049	-1	tier1	-	no_errors	ENST00000357447	ensembl	human	known	74_37	missense	22.22	35	10	SNP	1.000	A
FUNDC2P2	388965	genome.wustl.edu	37	2	84518145	84518145	+	RNA	SNP	A	A	C			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr2:84518145A>C	ENST00000331369.5	+	0	339									FUN14 domain containing 2 pseudogene 2																		AAGGTTGGAAAGTTGGCTGCA	0.483																																																	0																																												0					2p11.2	2010-03-12			ENSG00000182814	ENSG00000182814			17247	pseudogene	pseudogene							Standard	NR_003663		Approved		uc010ffz.1		OTTHUMG00000152875		2.37:g.84518145A>C				RNA	SNP	-	NULL	ENST00000331369.5	37	NULL		2																																																																																			FUNDC2P2	-	-	ENSG00000182814		0.483	FUNDC2P2-001	KNOWN	basic	processed_transcript	FUNDC2P2	HGNC	pseudogene	OTTHUMT00000333681.1	-	0.00	104	0	A	NR_003663		84518145	+1	tier1	-	no_errors	ENST00000331369	ensembl	human	known	74_37	rna	14.00	86	14	SNP	1.000	C
MTX1	4580	genome.wustl.edu	37	1	155184051	155184051	+	IGR	SNP	G	G	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:155184051G>A	ENST00000368376.3	+	0	1632				RP11-263K19.6_ENST00000455788.1_RNA|GBAP1_ENST00000486869.1_RNA	NM_002455.3	NP_002446.2	Q13505	MTX1_HUMAN	metaxin 1						cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTCGCTGTAAGCTCACGCTGG	0.572																																																	0																																										SO:0001628	intergenic_variant	0				CCDS1100.1, CCDS1101.1	1q21	2008-07-18			ENSG00000173171	ENSG00000173171			7504	protein-coding gene	gene with protein product		600605		MTX		7753840	Standard	XM_006711338		Approved	MTXN	uc001fjb.3	Q13505	OTTHUMG00000035708		1.37:g.155184051G>A			B1AVR9|B1AVS0|B2R9P4|Q9BUU3	RNA	SNP	-	NULL	ENST00000368376.3	37	NULL	CCDS1100.1	1																																																																																			GBAP1	-	-	ENSG00000160766		0.572	MTX1-001	KNOWN	basic|CCDS	protein_coding	GBAP1	HGNC	protein_coding	OTTHUMT00000086844.1	-	0.00	32	0	G	NM_198883		155184051	-1	tier1	-	no_errors	ENST00000368374	ensembl	human	known	74_37	rna	19.23	21	5	SNP	0.001	A
GLUL	2752	genome.wustl.edu	37	1	182357713	182357713	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:182357713C>T	ENST00000331872.6	-	2	700	c.160G>A	c.(160-162)Gtg>Atg	p.V54M	GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000311223.5_Missense_Mutation_p.V54M|GLUL_ENST00000417584.2_Missense_Mutation_p.V54M|GLUL_ENST00000339526.4_Missense_Mutation_p.V54M	NM_001033044.2	NP_001028216.1	P15104	GLNA_HUMAN	glutamate-ammonia ligase	54					cell proliferation (GO:0008283)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to starvation (GO:0009267)|glutamate catabolic process (GO:0006538)|glutamine biosynthetic process (GO:0006542)|neurotransmitter uptake (GO:0001504)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of insulin secretion (GO:0032024)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein homooligomerization (GO:0051260)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glial cell projection (GO:0097386)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|glutamate-ammonia ligase activity (GO:0004356)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Ceftriaxone(DB01212)|Diazoxide(DB01119)|L-Glutamine(DB00130)|L-Methionine(DB00134)|Pegvisomant(DB00082)	TCACCTTCCACACACTTGGGC	0.572																																																	0													120.0	100.0	106.0					1																	182357713		2203	4300	6503	SO:0001583	missense	0			AL161952	CCDS1344.1	1q31	2010-05-04	2010-05-04		ENSG00000135821	ENSG00000135821	6.3.1.2		4341	protein-coding gene	gene with protein product	"""glutamine synthetase"""	138290	"""glutamate-ammonia ligase (glutamine synthase)"""	GLNS		1681907, 2888076	Standard	NM_002065		Approved		uc001gpa.2	P15104	OTTHUMG00000037407	ENST00000331872.6:c.160G>A	1.37:g.182357713C>T	ENSP00000356537:p.Val54Met		Q499Y9|Q5T9Z1|Q7Z3W4|Q8IZ17	Missense_Mutation	SNP	pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta	p.V54M	ENST00000331872.6	37	c.160	CCDS1344.1	1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399849	0.62177	.	.	ENSG00000135821	ENST00000331872;ENST00000311223;ENST00000417584;ENST00000339526;ENST00000435013	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.72	-0.555	0.11807	Glutamine synthetase, beta-Grasp (2);	0.464130	0.24022	N	0.042280	T	0.53481	0.1799	M	0.85373	2.75	0.37102	D	0.899945	B	0.30033	0.266	B	0.42851	0.4	T	0.54063	-0.8349	10	0.49607	T	0.09	-6.3188	4.9284	0.13905	0.0:0.3534:0.1594:0.4872	.	54	P15104	GLNA_HUMAN	M	54	ENSP00000356537:V54M;ENSP00000307900:V54M;ENSP00000398320:V54M;ENSP00000344958:V54M	ENSP00000307900:V54M	V	-	1	0	GLUL	180624336	0.990000	0.36364	0.491000	0.27477	0.968000	0.65278	0.439000	0.21575	-0.001000	0.14495	0.650000	0.86243	GTG	GLUL	-	pfam_Gln_synt_beta,superfamily_Gln_synt_beta	ENSG00000135821		0.572	GLUL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUL	HGNC	protein_coding	OTTHUMT00000091043.1	-	0.00	66	0	C	NM_002065		182357713	-1	tier1	-	no_errors	ENST00000311223	ensembl	human	known	74_37	missense	14.29	60	10	SNP	0.666	T
GP2	2813	genome.wustl.edu	37	16	20335452	20335452	+	Missense_Mutation	SNP	C	C	T	rs374063505		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr16:20335452C>T	ENST00000381362.4	-	3	297	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	GP2_ENST00000573897.1_5'Flank|GP2_ENST00000381360.5_Intron|GP2_ENST00000341642.5_Intron|GP2_ENST00000302555.5_Missense_Mutation_p.R74Q	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	74					antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CTCTGTGCTTCGGAAGGGTTC	0.567																																																	0													64.0	59.0	60.0					16																	20335452		2203	4300	6503	SO:0001583	missense	0			U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.221G>A	16.37:g.20335452C>T	ENSP00000370767:p.Arg74Gln		A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.R74Q	ENST00000381362.4	37	c.221	CCDS42128.1	16	.	.	.	.	.	.	.	.	.	.	C	37	6.396843	0.97533	.	.	ENSG00000169347	ENST00000302555;ENST00000381362	D;D	0.99586	-6.23;-6.23	5.03	5.03	0.67393	.	.	.	.	.	D	0.99677	0.9879	M	0.91920	3.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97574	1.0106	9	0.87932	D	0	-15.3946	15.9115	0.79477	0.0:1.0:0.0:0.0	.	74;74	P55259-3;P55259	.;GP2_HUMAN	Q	74	ENSP00000304044:R74Q;ENSP00000370767:R74Q	ENSP00000304044:R74Q	R	-	2	0	GP2	20242953	0.433000	0.25562	0.389000	0.26208	0.899000	0.52679	3.016000	0.49607	2.596000	0.87737	0.655000	0.94253	CGA	GP2	-	NULL	ENSG00000169347		0.567	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GP2	HGNC	protein_coding	OTTHUMT00000436920.1	-	0.00	41	0	C	NM_016295		20335452	-1	tier1	-	no_errors	ENST00000381362	ensembl	human	known	74_37	missense	43.64	30	24	SNP	1.000	T
GREM1	26585	genome.wustl.edu	37	15	33022942	33022942	+	Silent	SNP	C	C	G			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr15:33022942C>G	ENST00000300177.4	+	2	240	c.51C>G	c.(49-51)acC>acG	p.T17T	GREM1_ENST00000560830.1_Silent_p.T17T|GREM1_ENST00000322805.4_Silent_p.T17T|GREM1_ENST00000560677.1_Silent_p.T17T	NM_001191322.1|NM_001191323.1|NM_013372.6	NP_001178251.1|NP_001178252.1|NP_037504.1	O60565	GREM1_HUMAN	gremlin 1, DAN family BMP antagonist	17					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell morphogenesis (GO:0000902)|collagen fibril organization (GO:0030199)|determination of dorsal identity (GO:0048263)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone mineralization (GO:0030502)|negative regulation of bone mineralization involved in bone maturation (GO:1900158)|negative regulation of bone remodeling (GO:0046851)|negative regulation of bone trabecula formation (GO:1900155)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of receptor activity (GO:2000273)|positive regulation of receptor internalization (GO:0002092)|positive regulation of telomerase activity (GO:0051973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|regulation of epithelial to mesenchymal transition (GO:0010717)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|receptor agonist activity (GO:0048018)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10		all_lung(180;1.49e-09)		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)		TCTTGGGGACCCTGCTGCCGG	0.577																																																	0													25.0	28.0	27.0					15																	33022942		2166	4241	6407	SO:0001819	synonymous_variant	0				CCDS10029.1, CCDS53927.1	15q13.3	2014-02-07	2013-02-26	2004-05-07	ENSG00000166923	ENSG00000166923			2001	protein-coding gene	gene with protein product		603054	"""cysteine knot superfamily 1, BMP antagonist 1"", ""gremlin 1, cysteine knot superfamily, homolog (Xenopus laevis)"", ""gremlin 1"", ""colorectal adenoma and carcinoma 1"""	CKTSF1B1, CRAC1		9660951, 10026205, 22561515	Standard	NM_013372		Approved	DRM, gremlin, DAND2, HMPS	uc001zhe.2	O60565	OTTHUMG00000129319	ENST00000300177.4:c.51C>G	15.37:g.33022942C>G			Q52LV3|Q8N914|Q8N936	Silent	SNP	pfam_DAN,smart_Cys_knot_C,pirsf_Gremlin_precursor	p.T17	ENST00000300177.4	37	c.51	CCDS10029.1	15																																																																																			GREM1	-	pirsf_Gremlin_precursor	ENSG00000166923		0.577	GREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREM1	HGNC	protein_coding	OTTHUMT00000251455.2	-	0.00	31	0	C	NM_013372		33022942	+1	tier1	-	no_errors	ENST00000300177	ensembl	human	known	74_37	silent	25.00	15	5	SNP	0.998	G
H2AFJ	55766	genome.wustl.edu	37	12	14927628	14927628	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr12:14927628A>G	ENST00000544848.1	+	1	359	c.224A>G	c.(223-225)aAg>aGg	p.K75R		NM_177925.2	NP_808760.1	Q9BTM1	H2AJ_HUMAN	H2A histone family, member J	75						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|kidney(1)|ovary(1)|skin(1)	5						CGTGACAACAAGAAGACCAGG	0.647																																																	0													65.0	69.0	68.0					12																	14927628		2203	4300	6503	SO:0001583	missense	0			AK001765	CCDS31752.1	12p12.3	2012-09-11			ENSG00000246705	ENSG00000246705		"""Histones / Replication-independent"""	14456	protein-coding gene	gene with protein product							Standard	NM_177925		Approved	FLJ10903, MGC921	uc009zia.3	Q9BTM1	OTTHUMG00000168736	ENST00000544848.1:c.224A>G	12.37:g.14927628A>G	ENSP00000438553:p.Lys75Arg		Q9NV63	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.K75R	ENST00000544848.1	37	c.224	CCDS31752.1	12	.	.	.	.	.	.	.	.	.	.	A	13.59	2.281444	0.40394	.	.	ENSG00000246705	ENST00000544848;ENST00000228929	T;T	0.74632	-0.86;-0.86	4.78	3.64	0.41730	Histone-fold (2);Histone core (1);Histone H2A (2);	.	.	.	.	T	0.75384	0.3842	M	0.83692	2.655	0.40892	D	0.984082	B	0.21071	0.051	B	0.27170	0.077	T	0.75733	-0.3214	9	0.87932	D	0	.	9.1957	0.37226	0.9134:0.0:0.0866:0.0	.	75	Q9BTM1	H2AJ_HUMAN	R	75	ENSP00000438553:K75R;ENSP00000228929:K75R	ENSP00000228929:K75R	K	+	2	0	H2AFJ	14818895	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.183000	0.77697	1.147000	0.42369	-0.280000	0.10049	AAG	H2AFJ	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	ENSG00000246705		0.647	H2AFJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H2AFJ	HGNC	protein_coding	OTTHUMT00000400845.1	-	0.00	63	0	A	NM_177925		14927628	+1	tier1	-	no_errors	ENST00000389078	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	G
HCRTR2	3062	genome.wustl.edu	37	6	55142326	55142326	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr6:55142326G>T	ENST00000370862.3	+	5	1247	c.911G>T	c.(910-912)cGg>cTg	p.R304L		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	304					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAAACAGCCCGGATGTTGATG	0.458																																																	0													124.0	121.0	122.0					6																	55142326		2203	4300	6503	SO:0001583	missense	0			AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.911G>T	6.37:g.55142326G>T	ENSP00000359899:p.Arg304Leu		Q5VTM0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Orexin_rcpt_2,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_2,prints_NPY_rcpt	p.R304L	ENST00000370862.3	37	c.911	CCDS4956.1	6	.	.	.	.	.	.	.	.	.	.	G	34	5.370177	0.95900	.	.	ENSG00000137252	ENST00000370862	T	0.38887	1.11	6.06	6.06	0.98353	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.56587	0.1995	L	0.60957	1.885	0.80722	D	1	D	0.53745	0.962	D	0.65140	0.932	T	0.54255	-0.8321	10	0.66056	D	0.02	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	304	O43614	OX2R_HUMAN	L	304	ENSP00000359899:R304L	ENSP00000359899:R304L	R	+	2	0	HCRTR2	55250285	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.245000	0.95431	2.880000	0.98712	0.650000	0.86243	CGG	HCRTR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn	ENSG00000137252		0.458	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCRTR2	HGNC	protein_coding	OTTHUMT00000043392.1	-	0.00	46	0	G			55142326	+1	tier1	-	no_errors	ENST00000370862	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T
HDAC9	9734	genome.wustl.edu	37	7	18633636	18633636	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr7:18633636C>A	ENST00000432645.2	+	5	639	c.639C>A	c.(637-639)ttC>ttA	p.F213L	HDAC9_ENST00000401921.1_Missense_Mutation_p.F216L|HDAC9_ENST00000406451.4_Missense_Mutation_p.F213L|HDAC9_ENST00000456174.2_Missense_Mutation_p.F185L|HDAC9_ENST00000417496.2_Missense_Mutation_p.F255L|HDAC9_ENST00000441542.2_Missense_Mutation_p.F216L|HDAC9_ENST00000406072.1_Missense_Mutation_p.F244L|HDAC9_ENST00000428307.2_Missense_Mutation_p.F213L|HDAC9_ENST00000405010.3_Missense_Mutation_p.F213L|HDAC9_ENST00000524023.1_Missense_Mutation_p.F180L	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	213	Interaction with MAPK10. {ECO:0000250}.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGGATGATTTCCCCCTTCGAA	0.438																																																	0													123.0	118.0	120.0					7																	18633636		1936	4132	6068	SO:0001583	missense	0			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.639C>A	7.37:g.18633636C>A	ENSP00000410337:p.Phe213Leu		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.F216L	ENST00000432645.2	37	c.648	CCDS47555.1	7	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969336	0.74246	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T	0.75367	-0.53;-0.51;-0.93;-0.39;-0.5;-0.8;-0.92;-0.92;-0.51;-0.39	6.17	3.32	0.38043	.	0.000000	0.64402	D	0.000003	D	0.84051	0.5387	M	0.79011	2.435	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.71674	0.997;0.997;0.998;0.998;0.997;0.997;0.998;0.998;0.998;0.982;0.998;0.998;0.997	D;D;D;D;D;D;D;D;D;D;D;D;D	0.77004	0.97;0.97;0.987;0.989;0.97;0.97;0.987;0.987;0.978;0.952;0.987;0.987;0.97	D	0.84381	0.0549	10	0.66056	D	0.02	-9.1928	10.4613	0.44581	0.0:0.7254:0.0:0.2746	.	180;185;213;244;255;216;216;216;213;185;213;213;235	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	L	255;258;213;213;213;244;216;213;216;185;180;213	ENSP00000401669:F255L;ENSP00000384382:F213L;ENSP00000384657:F213L;ENSP00000395655:F213L;ENSP00000384017:F244L;ENSP00000383912:F216L;ENSP00000410337:F213L;ENSP00000408617:F216L;ENSP00000388568:F185L;ENSP00000430036:F180L	ENSP00000262069:F258L	F	+	3	2	HDAC9	18600161	0.998000	0.40836	1.000000	0.80357	0.953000	0.61014	0.596000	0.24044	0.874000	0.35823	-0.345000	0.07892	TTC	HDAC9	-	pirsf_Histone_deAcase_II_euk	ENSG00000048052		0.438	HDAC9-023	KNOWN	basic|CCDS	protein_coding	HDAC9	HGNC	protein_coding	OTTHUMT00000376176.1		0.00	67	0	C			18633636	+1			no_errors	ENST00000441542	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	A
HERPUD1	9709	genome.wustl.edu	37	16	56977366	56977366	+	3'UTR	SNP	G	G	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr16:56977366G>A	ENST00000439977.2	+	0	1537				RP11-325K4.3_ENST00000565861.1_RNA|HERPUD1_ENST00000344114.4_3'UTR|RP11-325K4.2_ENST00000570210.1_RNA|HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000300302.5_3'UTR|HERPUD1_ENST00000379792.2_3'UTR	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of protein binding (GO:0032092)|regulation of protein ubiquitination (GO:0031396)|response to unfolded protein (GO:0006986)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						GTGAAGCCGTGATACAAATTG	0.368			T	ERG	prostate																																			Dom	yes		16	16q12.2-q13	9709	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1"""		E	0																																										SO:0001624	3_prime_UTR_variant	0			AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108			13744	protein-coding gene	gene with protein product		608070				10922362, 10708769	Standard	NM_001010989		Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.*164G>A	16.37:g.56977366G>A			E9PGD1|O60644|Q6IAN8|Q96D92	RNA	SNP	-	NULL	ENST00000439977.2	37	NULL	CCDS10771.1	16																																																																																			HERPUD1	-	-	ENSG00000051108		0.368	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HERPUD1	HGNC	protein_coding	OTTHUMT00000257056.5	-	0.00	37	0	G			56977366	+1	tier1	-	no_errors	ENST00000570273	ensembl	human	known	74_37	rna	13.79	25	4	SNP	0.876	A
HK1	3098	genome.wustl.edu	37	10	71144261	71144261	+	Intron	SNP	A	A	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr10:71144261A>T	ENST00000359426.6	+	11	1823				HK1_ENST00000298649.3_Intron|HK1_ENST00000448642.2_Intron|HK1_ENST00000404387.2_Intron|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000360289.2_Intron	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1						carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						ACCATAGTGCATGTGCACTGC	0.522																																																	0													92.0	78.0	83.0					10																	71144261		2203	4300	6503	SO:0001627	intron_variant	0			M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.1719+24A>T	10.37:g.71144261A>T			E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	RNA	SNP	-	NULL	ENST00000359426.6	37	NULL	CCDS7292.1	10																																																																																			HK1	-	-	ENSG00000156515		0.522	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK1	HGNC	protein_coding	OTTHUMT00000048429.2	-	0.00	32	0	A	NM_000188		71144261	+1	tier1	-	no_errors	ENST00000494253	ensembl	human	known	74_37	rna	34.29	23	12	SNP	0.000	T
HOGA1	112817	genome.wustl.edu	37	10	99371273	99371273	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr10:99371273C>T	ENST00000370646.4	+	7	1202	c.841C>T	c.(841-843)Cgg>Tgg	p.R281W	PI4K2A_ENST00000370649.3_Intron|HOGA1_ENST00000370647.4_Missense_Mutation_p.R118W|PI4K2A_ENST00000555577.1_Intron	NM_138413.3	NP_612422.2	Q86XE5	HOGA1_HUMAN	4-hydroxy-2-oxoglutarate aldolase 1	281					4-hydroxyproline catabolic process (GO:0019470)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|oxalate metabolic process (GO:0033609)|pyruvate biosynthetic process (GO:0042866)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	4-hydroxy-2-oxoglutarate aldolase activity (GO:0008700)|protein homodimerization activity (GO:0042803)	p.R281G(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						GCAGGTGACCCGGCGCTTTGG	0.552																																																	1	Substitution - Missense(1)	lung(1)											60.0	64.0	63.0					10																	99371273		2203	4300	6503	SO:0001583	missense	0			BC011916	CCDS7467.1, CCDS44469.1	10q24.1	2010-12-19	2010-12-19	2010-12-19	ENSG00000241935	ENSG00000241935			25155	protein-coding gene	gene with protein product	"""dihydrodipicolinate synthetase homolog 2 (E. coli)"", ""N-acetylneuraminate pyruvate lyase 2 (putative)"""	613597	"""chromosome 10 open reading frame 65"", ""dihydrodipicolinate synthase-like, mitochondrial"""	C10orf65, DHDPSL		20797690	Standard	NM_001134670		Approved	FLJ37472, DHDPS2, NPL2		Q86XE5	OTTHUMG00000018859	ENST00000370646.4:c.841C>T	10.37:g.99371273C>T	ENSP00000359680:p.Arg281Trp		A8K075|Q5T680|Q5T684|Q711P0|Q8N9F2|Q96EV5	Missense_Mutation	SNP	pfam_DapA-like,prints_DapA-like	p.R281W	ENST00000370646.4	37	c.841	CCDS7467.1	10	.	.	.	.	.	.	.	.	.	.	C	11.28	1.593310	0.28357	.	.	ENSG00000241935	ENST00000370647;ENST00000370646	D;D	0.95342	-3.68;-3.68	5.34	4.42	0.53409	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.96580	0.8884	M	0.76328	2.33	0.50813	D	0.999894	B;D	0.89917	0.301;1.0	B;D	0.70016	0.052;0.967	D	0.95856	0.8879	10	0.38643	T	0.18	-8.924	14.8602	0.70376	0.1449:0.855:0.0:0.0	.	118;281	Q86XE5-3;Q86XE5	.;HOGA1_HUMAN	W	118;281	ENSP00000359681:R118W;ENSP00000359680:R281W	ENSP00000359680:R281W	R	+	1	2	HOGA1	99361263	0.998000	0.40836	0.996000	0.52242	0.087000	0.18053	2.890000	0.48609	1.218000	0.43458	0.655000	0.94253	CGG	HOGA1	-	pfam_DapA-like	ENSG00000241935		0.552	HOGA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HOGA1	HGNC	protein_coding	OTTHUMT00000049726.1	-	0.00	69	0	C	NM_138413		99371273	+1	tier1	-	no_errors	ENST00000370646	ensembl	human	known	74_37	missense	19.64	45	11	SNP	0.998	T
HOXB13	10481	genome.wustl.edu	37	17	46805780	46805780	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr17:46805780G>T	ENST00000290295.7	-	1	760	c.176C>A	c.(175-177)cCg>cAg	p.P59Q	PRAC2_ENST00000422730.2_RNA	NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	59					angiogenesis (GO:0001525)|epidermis development (GO:0008544)|epithelial cell maturation involved in prostate gland development (GO:0060743)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|response to wounding (GO:0009611)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						TTGCTTTGGCGGCTCCGCCGA	0.652																																																	0													42.0	50.0	48.0					17																	46805780		2201	4296	6497	SO:0001583	missense	0			U57052	CCDS11536.1	17q21.32	2014-09-17	2005-12-22		ENSG00000159184	ENSG00000159184		"""Homeoboxes / ANTP class : HOXL subclass"""	5112	protein-coding gene	gene with protein product		604607	"""homeo box B13"""			8756292, 9665387	Standard	NM_006361		Approved		uc002ioa.3	Q92826	OTTHUMG00000159900	ENST00000290295.7:c.176C>A	17.37:g.46805780G>T	ENSP00000290295:p.Pro59Gln		B2R878|Q96QM4|Q99810	Missense_Mutation	SNP	pfam_HoxA13_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.P59Q	ENST00000290295.7	37	c.176	CCDS11536.1	17	.	.	.	.	.	.	.	.	.	.	G	19.10	3.761843	0.69763	.	.	ENSG00000159184	ENST00000290295	T	0.52526	0.66	4.9	4.9	0.64082	.	0.191648	0.48286	D	0.000197	T	0.66157	0.2761	M	0.66939	2.045	0.43338	D	0.995383	D	0.64830	0.994	D	0.65987	0.94	T	0.69826	-0.5040	10	0.87932	D	0	.	16.7972	0.85605	0.0:0.0:1.0:0.0	.	59	Q92826	HXB13_HUMAN	Q	59	ENSP00000290295:P59Q	ENSP00000290295:P59Q	P	-	2	0	HOXB13	44160779	0.923000	0.31300	0.854000	0.33618	0.824000	0.46624	4.091000	0.57700	2.544000	0.85801	0.462000	0.41574	CCG	HOXB13	-	pfam_HoxA13_N	ENSG00000159184		0.652	HOXB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB13	HGNC	protein_coding	OTTHUMT00000358087.3		0.00	93	0	G	NM_006361		46805780	-1			no_errors	ENST00000290295	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.937	T
HOXD13	3239	genome.wustl.edu	37	2	176958115	176958115	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr2:176958115A>G	ENST00000392539.3	+	1	497	c.497A>G	c.(496-498)aAg>aGg	p.K166R		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	166					anterior/posterior pattern specification (GO:0009952)|branch elongation of an epithelium (GO:0060602)|embryonic digit morphogenesis (GO:0042733)|embryonic hindgut morphogenesis (GO:0048619)|male genitalia development (GO:0030539)|morphogenesis of an epithelial fold (GO:0060571)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		CCCGTGGAGAAGTACATGGAC	0.622			T	NUP98	AML*																																			Dom	yes		2	2q31-q32	3239	homeo box D13		L	0													50.0	47.0	48.0					2																	176958115		2203	4300	6503	SO:0001583	missense	0			AF005219	CCDS2264.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128714	ENSG00000128714		"""Homeoboxes / ANTP class : HOXL subclass"""	5136	protein-coding gene	gene with protein product		142989	"""homeo box D13"""	HOX4I, SPD		2574852, 1973146	Standard	NM_000523		Approved		uc002ukf.1	P35453	OTTHUMG00000132431	ENST00000392539.3:c.497A>G	2.37:g.176958115A>G	ENSP00000376322:p.Lys166Arg			Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_HoxA13_N,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.K166R	ENST00000392539.3	37	c.497	CCDS2264.2	2	.	.	.	.	.	.	.	.	.	.	A	28.7	4.942990	0.92526	.	.	ENSG00000128714	ENST00000392539	T	0.58060	0.36	4.26	4.26	0.50523	.	0.000000	0.64402	D	0.000007	T	0.68879	0.3049	M	0.70595	2.14	0.40639	D	0.981922	D	0.89917	1.0	D	0.79108	0.992	T	0.71550	-0.4559	10	0.46703	T	0.11	.	12.4923	0.55907	1.0:0.0:0.0:0.0	.	166	P35453	HXD13_HUMAN	R	166	ENSP00000376322:K166R	ENSP00000376322:K166R	K	+	2	0	HOXD13	176666361	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.517000	0.73759	1.773000	0.52216	0.460000	0.39030	AAG	HOXD13	-	pfam_HoxA13_N	ENSG00000128714		0.622	HOXD13-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HOXD13	HGNC	protein_coding	OTTHUMT00000359256.1	-	0.00	103	0	A			176958115	+1	tier1	-	no_errors	ENST00000392539	ensembl	human	putative	74_37	missense	7.06	79	6	SNP	1.000	G
HPS5	11234	genome.wustl.edu	37	11	18305401	18305401	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr11:18305401C>G	ENST00000349215.3	-	21	3276	c.2999G>C	c.(2998-3000)aGa>aCa	p.R1000T	HPS5_ENST00000396253.3_Missense_Mutation_p.R886T|HPS5_ENST00000537258.1_Missense_Mutation_p.R107T|HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000438420.2_Missense_Mutation_p.R886T	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	1000					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GAAGGCCTCTCTTCTTCTCTC	0.398									Hermansky-Pudlak syndrome																																								0													135.0	130.0	132.0					11																	18305401		2199	4293	6492	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.2999G>C	11.37:g.18305401C>G	ENSP00000265967:p.Arg1000Thr		A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit	p.R1000T	ENST00000349215.3	37	c.2999	CCDS7836.1	11	.	.	.	.	.	.	.	.	.	.	C	8.361	0.833110	0.16820	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000537258	T;T;T	0.55052	0.54;0.54;0.54	5.98	1.58	0.23477	.	0.447351	0.26919	N	0.021830	T	0.21347	0.0514	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.03315	-1.1049	10	0.31617	T	0.26	.	1.7152	0.02900	0.1877:0.4167:0.1009:0.2947	.	1000	Q9UPZ3	HPS5_HUMAN	T	886;886;1000;107	ENSP00000379552:R886T;ENSP00000399590:R886T;ENSP00000265967:R1000T	ENSP00000265967:R1000T	R	-	2	0	HPS5	18261977	0.974000	0.33945	0.998000	0.56505	0.971000	0.66376	0.134000	0.15932	0.446000	0.26666	-0.229000	0.12294	AGA	HPS5	-	pirsf_BLOC-2_complex_Hps5_subunit	ENSG00000110756		0.398	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS5	HGNC	protein_coding	OTTHUMT00000390808.1	-	0.00	75	0	C	NM_181507		18305401	-1	tier1	-	no_errors	ENST00000349215	ensembl	human	known	74_37	missense	10.87	41	5	SNP	0.982	G
ICT1	3396	genome.wustl.edu	37	17	73015819	73015819	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr17:73015819G>A	ENST00000301585.5	+	3	261	c.248G>A	c.(247-249)cGg>cAg	p.R83Q		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	83					mitochondrial translational termination (GO:0070126)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)|translation release factor activity, codon nonspecific (GO:0016150)			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					TCTTATTGTCGGAGTAGTGGT	0.448																																																	0													106.0	98.0	101.0					17																	73015819		2203	4300	6503	SO:0001583	missense	0			X81788	CCDS11711.1	17q25	2014-02-12				ENSG00000167862			5359	protein-coding gene	gene with protein product		603000				8575443, 20186120	Standard	NM_001545		Approved	DS-1	uc002jmm.3	Q14197		ENST00000301585.5:c.248G>A	17.37:g.73015819G>A	ENSP00000301585:p.Arg83Gln		B2RAD1|Q53HM7|Q53Y11	Missense_Mutation	SNP	pfam_Pep_chain_release_fac_I_II	p.R83Q	ENST00000301585.5	37	c.248	CCDS11711.1	17	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897651	0.91962	.	.	ENSG00000167862	ENST00000301585	T	0.25250	1.81	5.48	4.31	0.51392	Peptide chain release factor class I/class II (1);	0.145647	0.39909	N	0.001236	T	0.49745	0.1575	M	0.93150	3.385	0.49130	D	0.99975	D	0.65815	0.995	P	0.51101	0.659	T	0.65224	-0.6220	10	0.87932	D	0	-12.0804	13.4194	0.60987	0.0858:0.0:0.9142:0.0	.	83	Q14197	ICT1_HUMAN	Q	83	ENSP00000301585:R83Q	ENSP00000301585:R83Q	R	+	2	0	ICT1	70527414	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.070000	0.64376	2.563000	0.86464	0.563000	0.77884	CGG	ICT1	-	pfam_Pep_chain_release_fac_I_II	ENSG00000167862		0.448	ICT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICT1	HGNC	protein_coding	OTTHUMT00000445314.1	-	0.00	102	0	G	NM_001545		73015819	+1	tier1	-	no_errors	ENST00000301585	ensembl	human	known	74_37	missense	12.50	84	12	SNP	0.997	A
IDH3G	3421	genome.wustl.edu	37	X	153051695	153051695	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chrX:153051695G>A	ENST00000217901.5	-	12	1248	c.1052C>T	c.(1051-1053)gCt>gTt	p.A351V	IDH3G_ENST00000427365.2_Missense_Mutation_p.A293V|IDH3G_ENST00000370092.3_Missense_Mutation_p.A351V|IDH3G_ENST00000497043.1_5'Flank|IDH3G_ENST00000370093.1_3'UTR	NM_004135.3	NP_004126.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	351					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCCAGGACAGCCTTACGGAT	0.662																																																	0													90.0	76.0	81.0					X																	153051695		2202	4300	6502	SO:0001583	missense	0				CCDS14730.1, CCDS44019.1	Xq28	2008-02-05			ENSG00000067829	ENSG00000067829	1.1.1.41		5386	protein-coding gene	gene with protein product		300089				9286695	Standard	NM_004135		Approved		uc004fip.4	P51553	OTTHUMG00000024219	ENST00000217901.5:c.1052C>T	X.37:g.153051695G>A	ENSP00000217901:p.Ala351Val		E9PDD5|Q9BUU5	Missense_Mutation	SNP	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD	p.A351V	ENST00000217901.5	37	c.1052	CCDS14730.1	X	.	.	.	.	.	.	.	.	.	.	g	19.11	3.763715	0.69878	.	.	ENSG00000067829	ENST00000370092;ENST00000217901;ENST00000427365;ENST00000393771	T;T;T	0.70749	-0.51;-0.51;-0.51	5.46	5.46	0.80206	Isopropylmalate dehydrogenase-like domain (2);	0.102101	0.64402	D	0.000003	D	0.88265	0.6390	H	0.97340	3.985	0.58432	D	0.999999	D;D;B	0.64830	0.968;0.994;0.371	P;P;B	0.59595	0.86;0.564;0.322	D	0.92323	0.5867	10	0.87932	D	0	.	15.1643	0.72811	0.0:0.0:1.0:0.0	.	247;351;351	E9PCL6;E9PDD5;P51553	.;.;IDH3G_HUMAN	V	351;351;293;247	ENSP00000359110:A351V;ENSP00000217901:A351V;ENSP00000408529:A293V	ENSP00000217901:A351V	A	-	2	0	IDH3G	152704889	1.000000	0.71417	0.993000	0.49108	0.569000	0.35902	3.915000	0.56409	2.285000	0.76669	0.431000	0.28591	GCT	IDH3G	-	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD	ENSG00000067829		0.662	IDH3G-005	KNOWN	basic|appris_principal|CCDS	protein_coding	IDH3G	HGNC	protein_coding	OTTHUMT00000061084.27	-	0.00	17	0	G			153051695	-1	tier1	-	no_errors	ENST00000217901	ensembl	human	known	74_37	missense	62.50	3	5	SNP	0.999	A
IFIT1	3434	genome.wustl.edu	37	10	91162762	91162762	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr10:91162762C>G	ENST00000371804.3	+	2	897	c.730C>G	c.(730-732)Cta>Gta	p.L244V	LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000546318.1_Missense_Mutation_p.L213V	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	244					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						TGAAGAAGCTCTAGCCAACAT	0.423																																																	0													146.0	147.0	146.0					10																	91162762		2203	4300	6503	SO:0001583	missense	0			M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"""Tetratricopeptide (TTC) repeat domain containing"""	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.730C>G	10.37:g.91162762C>G	ENSP00000360869:p.Leu244Val		B3KS50|D3DR31|Q5T7J1|Q96QM5	Missense_Mutation	SNP	pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L244V	ENST00000371804.3	37	c.730	CCDS31243.1	10	.	.	.	.	.	.	.	.	.	.	C	12.89	2.074078	0.36566	.	.	ENSG00000185745	ENST00000371804;ENST00000546318	T;T	0.79454	-1.27;-1.27	5.49	3.6	0.41247	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.086755	0.42821	D	0.000643	D	0.85414	0.5691	M	0.88979	2.995	0.09310	N	1	D;D	0.63880	0.993;0.993	P;P	0.58210	0.835;0.835	T	0.77324	-0.2630	10	0.56958	D	0.05	.	7.979	0.30172	0.2855:0.6372:0.0:0.0772	.	244;244	Q5T7J1;P09914	.;IFIT1_HUMAN	V	244;213	ENSP00000360869:L244V;ENSP00000441968:L213V	ENSP00000360869:L244V	L	+	1	2	IFIT1	91152742	0.022000	0.18835	0.067000	0.19924	0.076000	0.17211	0.540000	0.23191	1.413000	0.46997	0.557000	0.71058	CTA	IFIT1	-	pfscan_TPR-contain_dom	ENSG00000185745		0.423	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIT1	HGNC	protein_coding	OTTHUMT00000049302.1	-	0.00	61	0	C	NM_001548		91162762	+1	tier1	-	no_errors	ENST00000371804	ensembl	human	known	74_37	missense	14.29	42	7	SNP	0.058	G
IL27RA	9466	genome.wustl.edu	37	19	14157366	14157366	+	Silent	SNP	G	G	T	rs140727303		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr19:14157366G>T	ENST00000263379.2	+	8	1202	c.1077G>T	c.(1075-1077)ggG>ggT	p.G359G		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	359	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CTCGAGATGGGGACCCCCTGG	0.642																																					Colon(164;1849 1896 4443 37792 47834)												0													87.0	93.0	91.0					19																	14157366		2203	4300	6503	SO:0001819	synonymous_variant	0			AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	17290	protein-coding gene	gene with protein product	"""T-cell cytokine receptor type 1"""	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.1077G>T	19.37:g.14157366G>T			A0N0L1|O60624	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.G359	ENST00000263379.2	37	c.1077	CCDS12303.1	19																																																																																			IL27RA	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000104998		0.642	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL27RA	HGNC	protein_coding	OTTHUMT00000458539.1		0.00	59	0	G	NM_004843		14157366	+1			no_errors	ENST00000263379	ensembl	human	known	74_37	silent	6.78	55	4	SNP	0.000	T
INO80B	83444	genome.wustl.edu	37	2	74683272	74683272	+	Nonsense_Mutation	SNP	C	C	G			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr2:74683272C>G	ENST00000233331.7	+	4	507	c.413C>G	c.(412-414)tCa>tGa	p.S138*	INO80B_ENST00000409917.1_Nonsense_Mutation_p.S138*|INO80B_ENST00000469849.1_3'UTR|WBP1_ENST00000393972.3_5'Flank|WBP1_ENST00000233615.2_5'Flank|WBP1_ENST00000409737.1_5'Flank	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	138					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						CGGGACCTATCAGGAGGGTTA	0.517																																																	0													77.0	77.0	77.0					2																	74683272		2203	4300	6503	SO:0001587	stop_gained	0			AB054538	CCDS1942.2	2p13.1	2011-07-06	2008-08-07	2008-08-07	ENSG00000115274	ENSG00000115274		"""Zinc fingers, HIT-type"", ""INO80 complex subunits"""	13324	protein-coding gene	gene with protein product	"""PAP-1 binding protein"", ""IES2 homolog (S. cerevisiae)"""		"""high mobility group AT-hook 1-like 4"", ""zinc finger, HIT type 4"""	HMGA1L4, ZNHIT4		16230350	Standard	NM_031288		Approved	HMGIYL4, PAPA-1, hIes2, PAP-1BP, IES2	uc002slg.3	Q9C086	OTTHUMG00000129959	ENST00000233331.7:c.413C>G	2.37:g.74683272C>G	ENSP00000233331:p.Ser138*			Nonsense_Mutation	SNP	pfam_INO80B_C,pfam_Znf_HIT	p.S138*	ENST00000233331.7	37	c.413	CCDS1942.2	2	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283116	0.80803	.	.	ENSG00000115274	ENST00000233331;ENST00000409917;ENST00000409493	.	.	.	5.66	4.77	0.60923	.	0.317221	0.32301	N	0.006282	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-0.9237	12.5983	0.56483	0.0:0.8335:0.1665:0.0	.	.	.	.	X	138;138;143	.	ENSP00000233331:S138X	S	+	2	0	INO80B	74536780	0.999000	0.42202	0.074000	0.20217	0.981000	0.71138	5.771000	0.68881	1.371000	0.46172	0.561000	0.74099	TCA	INO80B	-	NULL	ENSG00000115274		0.517	INO80B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80B	HGNC	protein_coding	OTTHUMT00000252223.2	-	0.00	84	0	C	NM_031288		74683272	+1	tier1	-	no_errors	ENST00000452361	ensembl	human	known	74_37	nonsense	5.41	70	4	SNP	0.951	G
SLC27A3	11000	genome.wustl.edu	37	1	153746463	153746463	+	5'Flank	DEL	T	T	-	rs191458427	byFrequency	TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:153746463delT	ENST00000368661.3	+	0	0				INTS3_ENST00000456435.1_3'UTR|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000318967.2_3'UTR|SLC27A3_ENST00000271857.2_5'Flank	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3						fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTTGAGTCTGttttttttttt	0.373																																																	0																																										SO:0001631	upstream_gene_variant	0			BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155		1.37:g.153746463delT	Exception_encountered		Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	RNA	DEL	-	NULL	ENST00000368661.3	37	NULL	CCDS1053.1	1																																																																																			INTS3	-	-	ENSG00000143624		0.373	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS3	HGNC	protein_coding			0.00	35	0	T	NM_024330		153746463	+1	tier1		no_errors	ENST00000476843	ensembl	human	known	74_37	rna	12.50	28	4	DEL	0.000	-
ITK	3702	genome.wustl.edu	37	5	156671337	156671337	+	Missense_Mutation	SNP	T	T	G			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr5:156671337T>G	ENST00000422843.3	+	13	1450	c.1298T>G	c.(1297-1299)cTg>cGg	p.L433R	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	433	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	CCCATCTGCCTGGTGTTTGAG	0.557			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)			Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	0													89.0	88.0	88.0					5																	156671337		2203	4300	6503	SO:0001583	missense	0			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.1298T>G	5.37:g.156671337T>G	ENSP00000398655:p.Leu433Arg		B2R752|Q32ML7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.L433R	ENST00000422843.3	37	c.1298	CCDS4336.1	5	.	.	.	.	.	.	.	.	.	.	T	29.1	4.973677	0.92919	.	.	ENSG00000113263	ENST00000422843	D	0.85484	-1.99	6.08	6.08	0.98989	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95249	0.8459	H	0.96805	3.885	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.96690	0.9510	10	0.87932	D	0	.	16.6512	0.85203	0.0:0.0:0.0:1.0	.	433	Q08881	ITK_HUMAN	R	433	ENSP00000398655:L433R	ENSP00000398655:L433R	L	+	2	0	ITK	156603915	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.887000	0.87295	2.333000	0.79357	0.482000	0.46254	CTG	ITK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000113263		0.557	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITK	HGNC	protein_coding	OTTHUMT00000252569.2	-	0.00	63	0	T			156671337	+1	tier1	-	no_errors	ENST00000422843	ensembl	human	known	74_37	missense	17.95	32	7	SNP	1.000	G
ITPR3	3710	genome.wustl.edu	37	6	33653186	33653186	+	Silent	SNP	C	C	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr6:33653186C>T	ENST00000374316.5	+	41	6418	c.5358C>T	c.(5356-5358)ttC>ttT	p.F1786F	ITPR3_ENST00000605930.1_Silent_p.F1786F			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1786					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	AGCGCTTCTTCAAGGTGCTGC	0.592																																																	0													63.0	59.0	61.0					6																	33653186		2203	4300	6503	SO:0001819	synonymous_variant	0			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.5358C>T	6.37:g.33653186C>T			Q14649|Q5TAQ2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.F1786	ENST00000374316.5	37	c.5358	CCDS4783.1	6																																																																																			ITPR3	-	NULL	ENSG00000096433		0.592	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR3	HGNC	protein_coding	OTTHUMT00000040204.2	-	0.00	51	0	C	NM_002224		33653186	+1	tier1	-	no_errors	ENST00000374316	ensembl	human	known	74_37	silent	11.11	39	5	SNP	1.000	T
IVD	3712	genome.wustl.edu	37	15	40703768	40703768	+	Silent	SNP	C	C	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr15:40703768C>T	ENST00000249760.2	+	6	908	c.565C>T	c.(565-567)Ctg>Ttg	p.L189L	IVD_ENST00000487418.2_Silent_p.L192L|IVD_ENST00000479013.2_Silent_p.L162L	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	189					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	flavin adenine dinucleotide binding (GO:0050660)|isovaleryl-CoA dehydrogenase activity (GO:0008470)			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)	Flavin adenine dinucleotide(DB03147)	TCACTACATCCTGAATGGCAA	0.517																																					GBM(31;293 617 7486 32527 34655)												0													94.0	77.0	83.0					15																	40703768		2203	4300	6503	SO:0001819	synonymous_variant	0			AF038317	CCDS10057.1, CCDS10057.2, CCDS53930.1	15q14-q15	2010-05-11	2010-05-11		ENSG00000128928	ENSG00000128928	1.3.99.10		6186	protein-coding gene	gene with protein product		607036	"""isovaleryl Coenzyme A dehydrogenase"", ""isovaleryl CoA dehydrogenase"""			2063866	Standard	NM_002225		Approved	ACAD2	uc001zls.3	P26440	OTTHUMG00000129984	ENST00000249760.2:c.565C>T	15.37:g.40703768C>T			B2RCV5|B3KVI7|J3KR54|Q53XZ9|Q96AF6	Silent	SNP	pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C	p.L192	ENST00000249760.2	37	c.574		15																																																																																			IVD	-	pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom	ENSG00000128928		0.517	IVD-201	KNOWN	basic|appris_candidate	protein_coding	IVD	HGNC	protein_coding		-	0.00	78	0	C			40703768	+1	tier1	-	no_errors	ENST00000487418	ensembl	human	known	74_37	silent	13.33	52	8	SNP	1.000	T
KCTD14	65987	genome.wustl.edu	37	11	77727683	77727683	+	Missense_Mutation	SNP	C	C	T	rs374366969		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr11:77727683C>T	ENST00000353172.5	-	2	768	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	KCTD14_ENST00000533144.1_Missense_Mutation_p.E212K|RP11-7I15.3_ENST00000533697.1_RNA	NM_001203260.1|NM_001203262.1|NM_001282406.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_001269335.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	242					protein homooligomerization (GO:0051260)			p.E242K(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			AAATGGAATTCGTTTCTTTTG	0.448																																					NSCLC(86;414 1416 18100 32729 49271)|Esophageal Squamous(156;1132 1858 11406 36132 46748)												1	Substitution - Missense(1)	large_intestine(1)						C	,,,LYS/GLU	1,4399	2.1+/-5.4	0,1,2199	136.0	121.0	126.0		,,,724	1.6	0.0	11		126	0,8584		0,0,4292	no	utr-3,utr-3,utr-3,missense	KCTD14,NDUFC2-KCTD14	NM_001203260.1,NM_001203261.1,NM_001203262.1,NM_023930.3	,,,56	0,1,6491	TT,TC,CC		0.0,0.0227,0.0077	,,,benign	,,,242/256	77727683	1,12983	2200	4292	6492	SO:0001583	missense	0			BC001062	CCDS8255.2, CCDS60908.1	11q13.4	2013-06-20	2013-06-20		ENSG00000151364	ENSG00000151364			23295	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 14"""			12477932	Standard	NM_023930		Approved	MGC2376	uc001oyw.4	Q9BQ13	OTTHUMG00000150224	ENST00000353172.5:c.724G>A	11.37:g.77727683C>T	ENSP00000316482:p.Glu242Lys		B2R9R8	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.E242K	ENST00000353172.5	37	c.724	CCDS8255.2	11	.	.	.	.	.	.	.	.	.	.	C	0.190	-1.053945	0.01965	2.27E-4	0.0	ENSG00000151364	ENST00000353172;ENST00000533144	T;T	0.62788	0.0;0.01	4.1	1.61	0.23674	.	0.449872	0.15513	N	0.258444	T	0.24044	0.0582	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31916	-0.9926	10	0.02654	T	1	.	7.5842	0.27982	0.0:0.1807:0.0:0.8193	.	242	Q9BQ13	KCD14_HUMAN	K	242;212	ENSP00000316482:E242K;ENSP00000431155:E212K	ENSP00000316482:E242K	E	-	1	0	KCTD14	77405331	0.017000	0.18338	0.000000	0.03702	0.003000	0.03518	0.799000	0.27028	0.178000	0.19917	-0.300000	0.09419	GAA	KCTD14	-	NULL	ENSG00000151364		0.448	KCTD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD14	HGNC	protein_coding	OTTHUMT00000316888.1	-	0.00	41	0	C	NM_023930		77727683	-1	tier1	-	no_errors	ENST00000353172	ensembl	human	known	74_37	missense	23.53	26	8	SNP	0.001	T
KCTD8	386617	genome.wustl.edu	37	4	44176944	44176944	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr4:44176944T>C	ENST00000360029.3	-	2	1568	c.1285A>G	c.(1285-1287)Aaa>Gaa	p.K429E		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	429					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TCACAGACTTTCTTTTTGGAC	0.418										HNSCC(17;0.042)																																							0													199.0	208.0	205.0					4																	44176944		2203	4300	6503	SO:0001583	missense	0			AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1285A>G	4.37:g.44176944T>C	ENSP00000353129:p.Lys429Glu		A2RU39	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.K429E	ENST00000360029.3	37	c.1285	CCDS3467.1	4	.	.	.	.	.	.	.	.	.	.	T	18.62	3.662571	0.67700	.	.	ENSG00000183783	ENST00000360029	T	0.40225	1.04	4.76	4.76	0.60689	.	0.355834	0.23402	N	0.048573	T	0.47173	0.1431	L	0.29908	0.895	0.40035	D	0.975571	D	0.67145	0.996	P	0.58013	0.831	T	0.52132	-0.8616	10	0.72032	D	0.01	.	13.8906	0.63736	0.0:0.0:0.0:1.0	.	429	Q6ZWB6	KCTD8_HUMAN	E	429	ENSP00000353129:K429E	ENSP00000353129:K429E	K	-	1	0	KCTD8	43871701	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.561000	0.45905	2.119000	0.64992	0.528000	0.53228	AAA	KCTD8	-	NULL	ENSG00000183783		0.418	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD8	HGNC	protein_coding	OTTHUMT00000216868.1	-	0.00	99	0	T			44176944	-1	tier1	-	no_errors	ENST00000360029	ensembl	human	known	74_37	missense	6.82	82	6	SNP	1.000	C
KIFAP3	22920	genome.wustl.edu	37	1	169947249	169947249	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:169947249C>G	ENST00000361580.2	-	16	2101	c.1874G>C	c.(1873-1875)aGa>aCa	p.R625T	KIFAP3_ENST00000367767.1_Missense_Mutation_p.R581T|KIFAP3_ENST00000367765.1_Missense_Mutation_p.R585T|KIFAP3_ENST00000540905.1_Missense_Mutation_p.R327T|KIFAP3_ENST00000538366.1_Missense_Mutation_p.R547T	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	625					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TATGACGTCTCTTGTGGCTTG	0.318																																																	0													133.0	131.0	132.0					1																	169947249		2203	4300	6503	SO:0001583	missense	0			U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.1874G>C	1.37:g.169947249C>G	ENSP00000354560:p.Arg625Thr		B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R625T	ENST00000361580.2	37	c.1874	CCDS1288.1	1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630708	0.87660	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000540905;ENST00000538366	T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35	6.17	5.27	0.74061	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56124	0.1964	M	0.83118	2.625	0.80722	D	1	P	0.42078	0.77	P	0.48598	0.583	T	0.61950	-0.6957	9	.	.	.	-23.4345	15.0305	0.71701	0.0:0.932:0.0:0.068	.	625	Q92845	KIFA3_HUMAN	T	625;585;581;327;547	ENSP00000354560:R625T;ENSP00000356739:R585T;ENSP00000356741:R581T;ENSP00000442712:R327T;ENSP00000444622:R547T	.	R	-	2	0	KIFAP3	168213873	1.000000	0.71417	0.992000	0.48379	0.989000	0.77384	5.685000	0.68204	1.631000	0.50456	0.655000	0.94253	AGA	KIFAP3	-	superfamily_ARM-type_fold,pfscan_Armadillo	ENSG00000075945		0.318	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFAP3	HGNC	protein_coding	OTTHUMT00000087568.1	-	0.00	57	0	C	NM_014970		169947249	-1	tier1	-	no_errors	ENST00000361580	ensembl	human	known	74_37	missense	11.94	59	8	SNP	1.000	G
KIF26B	55083	genome.wustl.edu	37	1	245865807	245865807	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:245865807G>T	ENST00000407071.2	+	15	6666	c.6226G>T	c.(6226-6228)Gca>Tca	p.A2076S	KIF26B_ENST00000366518.4_Missense_Mutation_p.A1695S	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	2076					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.A2076S(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GTACCTGGAGGCACTGGAGTG	0.572																																																	2	Substitution - Missense(2)	lung(2)											77.0	81.0	79.0					1																	245865807		2074	4198	6272	SO:0001583	missense	0			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.6226G>T	1.37:g.245865807G>T	ENSP00000385545:p.Ala2076Ser		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A2076S	ENST00000407071.2	37	c.6226	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392075	0.83011	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	D;D	0.88431	-2.38;-2.38	5.86	5.86	0.93980	.	.	.	.	.	D	0.94427	0.8207	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.93239	0.6624	9	0.44086	T	0.13	.	20.1837	0.98210	0.0:0.0:1.0:0.0	.	2076	Q2KJY2	KI26B_HUMAN	S	2076;1695;1692	ENSP00000385545:A2076S;ENSP00000355475:A1695S	ENSP00000355475:A1695S	A	+	1	0	KIF26B	243932430	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	7.744000	0.85034	2.774000	0.95407	0.650000	0.86243	GCA	KIF26B	-	NULL	ENSG00000162849		0.572	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1		0.00	48	0	G	XM_371354		245865807	+1			no_errors	ENST00000407071	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	T
KMT2D	8085	genome.wustl.edu	37	12	49444573	49444573	+	Splice_Site	DEL	T	T	-			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr12:49444573delT	ENST00000301067.7	-	11	2797	c.2798delA	c.(2797-2799)gat>gt	p.D933fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	933	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AGGAAGGGGATCTGGAAGGAA	0.517																																																	0													49.0	56.0	54.0					12																	49444573		1942	4130	6072	SO:0001630	splice_region_variant	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2798-1A>-	12.37:g.49444573delT			O14687	Frame_Shift_Del	DEL	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.D933fs	ENST00000301067.7	37	c.2798	CCDS44873.1	12																																																																																			KMT2D	-	NULL	ENSG00000167548		0.517	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2		0.00	45	0	T		Frame_Shift_Del	49444573	-1	tier1		no_errors	ENST00000301067	ensembl	human	known	74_37	frame_shift_del	22.86	27	8	DEL	1.000	-
LDHAL6A	160287	genome.wustl.edu	37	11	18499176	18499176	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr11:18499176G>C	ENST00000280706.2	+	6	1517	c.720G>C	c.(718-720)gaG>gaC	p.E240D	TSG101_ENST00000536719.1_Intron|LDHAL6A_ENST00000396213.3_Missense_Mutation_p.E240D	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	240					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	L-lactate dehydrogenase activity (GO:0004459)			large_intestine(3)|lung(9)|urinary_tract(1)	13						GTGGCTATGAGATGGTCAAAA	0.358																																																	0													193.0	190.0	191.0					11																	18499176		2199	4293	6492	SO:0001583	missense	0			AK131523	CCDS7841.1	11p15.1	2011-01-27			ENSG00000166800	ENSG00000166800			28335	protein-coding gene	gene with protein product						12477932	Standard	NM_001144071		Approved	MGC23940, LDH6A	uc001mop.1	Q6ZMR3	OTTHUMG00000167724	ENST00000280706.2:c.720G>C	11.37:g.18499176G>C	ENSP00000280706:p.Glu240Asp		D3DQY5	Missense_Mutation	SNP	pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH	p.E240D	ENST00000280706.2	37	c.720	CCDS7841.1	11	.	.	.	.	.	.	.	.	.	.	G	10.53	1.377375	0.24944	.	.	ENSG00000166800	ENST00000396213;ENST00000280706	T;T	0.71103	-0.54;-0.54	4.34	1.24	0.21308	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.075484	0.52532	N	0.000078	T	0.61850	0.2380	M	0.66439	2.03	0.46260	D	0.998953	B	0.09022	0.002	B	0.17722	0.019	T	0.56733	-0.7930	10	0.56958	D	0.05	.	3.5022	0.07677	0.3445:0.0:0.4737:0.1818	.	240	Q6ZMR3	LDH6A_HUMAN	D	240	ENSP00000379516:E240D;ENSP00000280706:E240D	ENSP00000280706:E240D	E	+	3	2	LDHAL6A	18455752	1.000000	0.71417	0.003000	0.11579	0.579000	0.36224	0.944000	0.29043	0.359000	0.24239	0.563000	0.77884	GAG	LDHAL6A	-	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_L-lactate_DH	ENSG00000166800		0.358	LDHAL6A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LDHAL6A	HGNC	protein_coding	OTTHUMT00000395904.1	-	0.00	93	0	G	NM_144972		18499176	+1	tier1	-	no_errors	ENST00000280706	ensembl	human	known	74_37	missense	9.09	60	6	SNP	0.998	C
LEO1	123169	genome.wustl.edu	37	15	52258503	52258503	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr15:52258503T>C	ENST00000299601.5	-	2	317	c.257A>G	c.(256-258)aAt>aGt	p.N86S	LEO1_ENST00000315141.5_Missense_Mutation_p.N86S	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	86	Asp-rich.				endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		TTCTGATCTATTGTCTGATCT	0.448																																					Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)												0													208.0	188.0	194.0					15																	52258503		2195	4293	6488	SO:0001583	missense	0			AY302186	CCDS10146.1, CCDS66767.1	15q21.2	2008-02-05			ENSG00000166477	ENSG00000166477			30401	protein-coding gene	gene with protein product		610507				15632063	Standard	NM_001286430		Approved		uc002abo.3	Q8WVC0	OTTHUMG00000131843	ENST00000299601.5:c.257A>G	15.37:g.52258503T>C	ENSP00000299601:p.Asn86Ser		Q96N99	Missense_Mutation	SNP	pfam_Leo1	p.N86S	ENST00000299601.5	37	c.257	CCDS10146.1	15	.	.	.	.	.	.	.	.	.	.	T	16.91	3.251575	0.59212	.	.	ENSG00000166477	ENST00000299601;ENST00000538386;ENST00000315141	.	.	.	5.59	5.59	0.84812	.	0.044847	0.85682	D	0.000000	T	0.64962	0.2646	L	0.34521	1.04	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.77557	0.99;0.97	T	0.60031	-0.7342	9	0.19147	T	0.46	.	15.771	0.78167	0.0:0.0:0.0:1.0	.	86;86	Q8WVC0-2;Q8WVC0	.;LEO1_HUMAN	S	86	.	ENSP00000299601:N86S	N	-	2	0	LEO1	50045795	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	7.503000	0.81632	2.123000	0.65237	0.533000	0.62120	AAT	LEO1	-	NULL	ENSG00000166477		0.448	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEO1	HGNC	protein_coding	OTTHUMT00000254791.2	-	0.00	63	0	T	NM_138792		52258503	-1	tier1	-	no_errors	ENST00000299601	ensembl	human	known	74_37	missense	24.62	49	16	SNP	1.000	C
LINC00700	282980	genome.wustl.edu	37	10	2056458	2056458	+	lincRNA	SNP	T	T	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr10:2056458T>A	ENST00000413603.1	-	0	84					NR_040253.1				long intergenic non-protein coding RNA 700																		gGGGCATATTTCATGCACTTG	0.483																																																	0																																												0			AK097474		10p15.3	2012-12-03			ENSG00000234962	ENSG00000234962		"""Long non-coding RNAs"""	27422	non-coding RNA	RNA, long non-coding							Standard	NR_040253		Approved		uc001igo.2		OTTHUMG00000017547		10.37:g.2056458T>A				RNA	SNP	-	NULL	ENST00000413603.1	37	NULL		10																																																																																			LINC00700	-	-	ENSG00000234962		0.483	LINC00700-003	KNOWN	basic	lincRNA	LINC00700	HGNC	lincRNA	OTTHUMT00000046440.1	-	0.00	76	0	T	NR_040253		2056458	-1	tier1	-	no_errors	ENST00000413603	ensembl	human	known	74_37	rna	10.00	63	7	SNP	0.000	A
MYOCD	93649	genome.wustl.edu	37	17	12666384	12666384	+	Intron	SNP	C	C	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr17:12666384C>A	ENST00000343344.4	+	13	2245				RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000425538.1_Intron			Q8IZQ8	MYCD_HUMAN	myocardin						cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CGTGTATTGCCCACAGAAATG	0.458																																																	0													72.0	70.0	71.0					17																	12666384		2203	4300	6503	SO:0001627	intron_variant	0			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2246-6C>A	17.37:g.12666384C>A			Q5UBU5|Q8N7Q1	RNA	SNP	-	NULL	ENST00000343344.4	37	NULL	CCDS11163.1	17																																																																																			RP11-1090M7.1	-	-	ENSG00000265489		0.458	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100128006	Clone_based_vega_gene	protein_coding	OTTHUMT00000129950.1	-	0.00	32	0	C	NM_153604		12666384	-1	tier1	-	no_errors	ENST00000584772	ensembl	human	known	74_37	rna	21.62	29	8	SNP	0.696	A
RP11-403I13.4	0	genome.wustl.edu	37	1	149265408	149265411	+	lincRNA	DEL	TTTG	TTTG	-	rs200322205		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	TTTG	TTTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:149265408_149265411delTTTG	ENST00000325963.8	+	0	4955_4958																											TTTAATTTCCTTTGTTTGAATGAA	0.284																																																	0																																												0																															1.37:g.149265412_149265415delTTTG				RNA	DEL	-	NULL	ENST00000325963.8	37	NULL		1																																																																																			RP11-403I13.4	-	-	ENSG00000223779		0.284	RP11-403I13.4-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	LOC100293748	Clone_based_vega_gene	lincRNA	OTTHUMT00000099551.1		0.00	19	0	TTTG			149265411	+1	tier1		no_errors	ENST00000325963	ensembl	human	known	74_37	rna	17.24	24	5	DEL	0.054:0.053:0.077:0.148	-
TIMP2	7077	genome.wustl.edu	37	17	76887157	76887157	+	Intron	SNP	G	G	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr17:76887157G>T	ENST00000262768.7	-	2	429				TIMP2_ENST00000536189.2_Intron|DDC8_ENST00000322630.2_Missense_Mutation_p.L477M	NM_003255.4	NP_003246.1	P16035	TIMP2_HUMAN	TIMP metallopeptidase inhibitor 2						aging (GO:0007568)|cellular response to organic substance (GO:0071310)|central nervous system development (GO:0007417)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of proteolysis (GO:0045861)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|regulation of Rap protein signal transduction (GO:0032487)|response to cytokine (GO:0034097)|response to drug (GO:0042493)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			AGCGTGCCCAGTTTGGGGGTC	0.507																																																	0																																										SO:0001627	intron_variant	0				CCDS11758.1	17q25	2008-07-18	2005-08-08		ENSG00000035862	ENSG00000035862			11821	protein-coding gene	gene with protein product		188825	"""tissue inhibitor of metalloproteinase 2"""			1427908	Standard	NM_003255		Approved	CSC-21K	uc002jwf.3	P16035	OTTHUMG00000154517	ENST00000262768.7:c.131-17156C>A	17.37:g.76887157G>T			Q16121|Q93006|Q9UDF7	Missense_Mutation	SNP	NULL	p.L477M	ENST00000262768.7	37	c.1429	CCDS11758.1	17	.	.	.	.	.	.	.	.	.	.	G	11.14	1.551859	0.27739	.	.	ENSG00000178404	ENST00000322630	T	0.24908	1.83	3.76	-0.891	0.10573	.	10.005000	0.00424	N	0.000066	T	0.24353	0.0590	.	.	.	0.09310	N	1	P	0.49447	0.924	P	0.47941	0.562	T	0.09530	-1.0670	9	0.38643	T	0.18	-0.1547	1.8015	0.03072	0.1139:0.1888:0.4073:0.29	.	477	Q96MC4	.	M	477	ENSP00000312767:L477M	ENSP00000312767:L477M	L	-	1	2	AC100788.1	74398752	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.453000	0.21811	-0.092000	0.12417	-0.211000	0.12701	CTG	DDC8	-	NULL	ENSG00000178404		0.507	TIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100653515	Uniprot_gn	protein_coding	OTTHUMT00000335662.1	-	0.00	48	0	G	NM_003255		76887157	-1	tier1	-	no_errors	ENST00000322630	ensembl	human	putative	74_37	missense	5.97	63	4	SNP	0.000	T
LOC400499	400499	genome.wustl.edu	37	16	11540490	11540490	+	Silent	SNP	G	G	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr16:11540490G>A	ENST00000344649.3	-	21	3059	c.1527C>T	c.(1525-1527)gtC>gtT	p.V509V																								GACCTGCACAGACCTGGGAGG	0.587																																																	0																																										SO:0001819	synonymous_variant	0																														ENST00000344649.3:c.1527C>T	16.37:g.11540490G>A				Silent	SNP	NULL	p.V509	ENST00000344649.3	37	c.1527		16																																																																																			CTD-3088G3.8	-	NULL	ENSG00000188897		0.587	CTD-3088G3.8-201	KNOWN	basic|appris_principal	protein_coding	LOC101929274	Clone_based_vega_gene	protein_coding		-	0.00	54	0	G			11540490	-1	tier1	-	no_errors	ENST00000344649	ensembl	human	known	74_37	silent	6.90	54	4	SNP	0.994	A
LOC440040	440040	genome.wustl.edu	37	11	49597796	49597796	+	RNA	SNP	A	A	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr11:49597796A>T	ENST00000527477.1	+	0	400																											TCCTGTCCTAAAACGGTCCTT	0.493																																																	0																																												0																															11.37:g.49597796A>T				RNA	SNP	-	NULL	ENST00000527477.1	37	NULL		11																																																																																			RP11-707M1.1	-	-	ENSG00000205035		0.493	RP11-707M1.1-003	KNOWN	basic	processed_transcript	LOC440040	Clone_based_vega_gene	pseudogene	OTTHUMT00000391378.2	-	0.00	54	0	A			49597796	+1	tier1	-	no_errors	ENST00000527477	ensembl	human	known	74_37	rna	19.05	34	8	SNP	1.000	T
RPL36	25873	genome.wustl.edu	37	19	5694527	5694527	+	IGR	SNP	C	C	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr19:5694527C>T	ENST00000577222.1	+	0	874				LONP1_ENST00000590729.1_Missense_Mutation_p.E601K|LONP1_ENST00000593119.1_Missense_Mutation_p.E667K|LONP1_ENST00000585374.1_Missense_Mutation_p.E617K|LONP1_ENST00000540670.2_Missense_Mutation_p.E535K|LONP1_ENST00000360614.3_Missense_Mutation_p.E731K			Q9Y3U8	RL36_HUMAN	ribosomal protein L36						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)|RNA metabolic process (GO:0016070)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|upper_aerodigestive_tract(1)	2						GACTCGGCCTCGCCGCTGACA	0.647																																																	0													64.0	52.0	56.0					19																	5694527		2202	4300	6502	SO:0001628	intergenic_variant	0				CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"""L ribosomal proteins"""	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8			19.37:g.5694527C>T			B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Missense_Mutation	SNP	pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Prk_AAA_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ	p.E731K	ENST00000577222.1	37	c.2191	CCDS12147.1	19	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047517	0.36085	.	.	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	T;T	0.23754	2.22;1.89	3.97	2.9	0.33743	.	0.179238	0.46758	D	0.000264	T	0.19485	0.0468	L	0.35723	1.085	0.37925	D	0.931829	B;B;B	0.29378	0.062;0.243;0.123	B;B;B	0.24974	0.021;0.057;0.028	T	0.09271	-1.0682	10	0.52906	T	0.07	-28.0397	11.1972	0.48719	0.0:0.8118:0.1881:0.0	.	731;667;731	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	K	731;695;535	ENSP00000353826:E731K;ENSP00000441523:E535K	ENSP00000351177:E695K	E	-	1	0	LONP1	5645527	0.996000	0.38824	0.085000	0.20634	0.603000	0.37013	3.438000	0.52871	0.632000	0.30432	0.462000	0.41574	GAG	LONP1	-	superfamily_P-loop_NTPase,tigrfam_Lon_bac/euk-typ	ENSG00000196365		0.647	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	LONP1	HGNC	protein_coding	OTTHUMT00000442561.1	-	0.00	34	0	C	NM_015414		5694527	-1	tier1	-	no_errors	ENST00000360614	ensembl	human	known	74_37	missense	40.00	12	8	SNP	0.468	T
LRP1B	53353	genome.wustl.edu	37	2	141215110	141215110	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr2:141215110C>T	ENST00000389484.3	-	61	10707	c.9736G>A	c.(9736-9738)Gca>Aca	p.A3246T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3246					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTCTGTCTGCTCCCGATGTT	0.418										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													229.0	201.0	211.0					2																	141215110		2203	4300	6503	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9736G>A	2.37:g.141215110C>T	ENSP00000374135:p.Ala3246Thr		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.A3246T	ENST00000389484.3	37	c.9736	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	14.14	2.447883	0.43429	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90900	-2.75	5.46	4.59	0.56863	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.482456	0.19109	N	0.122486	T	0.82185	0.4982	N	0.25485	0.75	0.32847	D	0.5061	B	0.13594	0.008	B	0.08055	0.003	T	0.76898	-0.2789	10	0.13108	T	0.6	.	10.0885	0.42432	0.1444:0.7822:0.0:0.0734	.	3246	Q9NZR2	LRP1B_HUMAN	T	3246;3184	ENSP00000374135:A3246T	ENSP00000374135:A3246T	A	-	1	0	LRP1B	140931580	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.704000	0.37857	1.298000	0.44778	-0.140000	0.14226	GCA	LRP1B	-	superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt	ENSG00000168702		0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0.00	84	0	C	NM_018557		141215110	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	11.32	47	6	SNP	1.000	T
LRRC43	254050	genome.wustl.edu	37	12	122677396	122677396	+	Silent	SNP	C	C	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr12:122677396C>T	ENST00000339777.4	+	7	1222	c.1194C>T	c.(1192-1194)gtC>gtT	p.V398V	LRRC43_ENST00000425921.1_Silent_p.V213V	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	398	Glu-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CTGAAGAGGTCGAAGGGTCTC	0.532																																																	0													98.0	105.0	103.0					12																	122677396		2084	4235	6319	SO:0001819	synonymous_variant	0			AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1194C>T	12.37:g.122677396C>T			Q6ZVT9	Silent	SNP	NULL	p.V398	ENST00000339777.4	37	c.1194	CCDS45001.1	12																																																																																			LRRC43	-	NULL	ENSG00000158113		0.532	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC43	HGNC	protein_coding	OTTHUMT00000401589.1		0.00	66	0	C	NM_152759		122677396	+1			no_errors	ENST00000339777	ensembl	human	known	74_37	silent	7.55	49	4	SNP	0.000	T
LRRN3	54674	genome.wustl.edu	37	7	110764419	110764419	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr7:110764419G>C	ENST00000422987.3	+	2	2422	c.1591G>C	c.(1591-1593)Gat>Cat	p.D531H	LRRN3_ENST00000451085.1_Missense_Mutation_p.D531H|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.D531H|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000405709.2_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	531	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D531H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TAAAATAAGAGATATTCAGGC	0.363																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											59.0	61.0	60.0					7																	110764419		2202	4300	6502	SO:0001583	missense	0			AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1591G>C	7.37:g.110764419G>C	ENSP00000412417:p.Asp531His		O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.D531H	ENST00000422987.3	37	c.1591	CCDS5754.1	7	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998318	0.35226	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.58940	0.3;0.3;0.3	6.17	6.17	0.99709	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000006	T	0.56731	0.2005	N	0.19112	0.55	0.34703	D	0.726923	D	0.54397	0.966	P	0.55161	0.77	T	0.65635	-0.6120	10	0.48119	T	0.1	.	14.9567	0.71120	0.0674:0.0:0.9326:0.0	.	531	Q9H3W5	LRRN3_HUMAN	H	531	ENSP00000312001:D531H;ENSP00000397312:D531H;ENSP00000412417:D531H	ENSP00000312001:D531H	D	+	1	0	LRRN3	110551655	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.974000	0.56852	2.941000	0.99782	0.655000	0.94253	GAT	LRRN3	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000173114		0.363	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRN3	HGNC	protein_coding	OTTHUMT00000338171.2	-	0.00	34	0	G	NM_018334		110764419	+1	tier1	-	no_errors	ENST00000308478	ensembl	human	known	74_37	missense	11.90	37	5	SNP	1.000	C
MAGED1	9500	genome.wustl.edu	37	X	51636756	51636756	+	5'UTR	SNP	G	G	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chrX:51636756G>T	ENST00000375722.1	+	0	128				MAGED1_ENST00000375772.3_Intron|MAGED1_ENST00000375695.2_5'UTR|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_5'UTR			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1						apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					GACAAGGAGAGAGTGCGGCTG	0.637										Multiple Myeloma(10;0.10)																																							0																																										SO:0001623	5_prime_UTR_variant	0			AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.-125G>T	X.37:g.51636756G>T			Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	RNA	SNP	-	NULL	ENST00000375722.1	37	NULL	CCDS14337.1	X																																																																																			MAGED1	-	-	ENSG00000179222		0.637	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAGED1	HGNC	protein_coding	OTTHUMT00000056593.1	-	0.00	37	0	G	NM_001005332		51636756	+1	tier1	-	no_errors	ENST00000470461	ensembl	human	known	74_37	rna	22.92	37	11	SNP	0.551	T
MAN1C1	57134	genome.wustl.edu	37	1	26104684	26104684	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:26104684G>T	ENST00000374332.4	+	9	1676	c.1346G>T	c.(1345-1347)gGg>gTg	p.G449V	MAN1C1_ENST00000263979.3_Missense_Mutation_p.G269V|MAN1C1_ENST00000374329.1_Missense_Mutation_p.G220V	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	449					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		CACAAGATGGGGCACCTGGCC	0.622																																																	0													47.0	50.0	49.0					1																	26104684		2203	4300	6503	SO:0001583	missense	0			AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.1346G>T	1.37:g.26104684G>T	ENSP00000363452:p.Gly449Val		A6NNE2|B2RNP2|Q9Y545	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.G449V	ENST00000374332.4	37	c.1346	CCDS265.1	1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.859096	0.91433	.	.	ENSG00000117643	ENST00000374332;ENST00000374331;ENST00000263979;ENST00000374329	T;T;T	0.71817	-0.6;-0.6;-0.6	5.21	4.3	0.51218	.	0.046874	0.85682	D	0.000000	D	0.86096	0.5851	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88972	0.3401	10	0.87932	D	0	.	13.6341	0.62213	0.0738:0.0:0.9262:0.0	.	449	Q9NR34	MA1C1_HUMAN	V	449;269;269;220	ENSP00000363452:G449V;ENSP00000263979:G269V;ENSP00000363449:G220V	ENSP00000263979:G269V	G	+	2	0	MAN1C1	25977271	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.581000	0.98210	1.426000	0.47256	0.655000	0.94253	GGG	MAN1C1	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	ENSG00000117643		0.622	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1C1	HGNC	protein_coding	OTTHUMT00000012828.3	-	0.00	43	0	G	NM_020379		26104684	+1	tier1	-	no_errors	ENST00000374332	ensembl	human	known	74_37	missense	43.33	17	13	SNP	1.000	T
MGAT4A	11320	genome.wustl.edu	37	2	99342758	99342758	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr2:99342758G>A	ENST00000264968.3	-	1	401	c.38C>T	c.(37-39)gCa>gTa	p.A13V	MGAT4A_ENST00000495056.2_Missense_Mutation_p.A13V|MGAT4A_ENST00000393487.1_Missense_Mutation_p.A13V|MGAT4A_ENST00000409391.1_Missense_Mutation_p.A13V			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	13					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						AGTGATAAATGCTAAAGCAGT	0.403																																																	0													124.0	110.0	115.0					2																	99342758		2203	4300	6503	SO:0001583	missense	0			AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7047	protein-coding gene	gene with protein product		604623	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"""			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.38C>T	2.37:g.99342758G>A	ENSP00000264968:p.Ala13Val		B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Missense_Mutation	SNP	pfam_Glyco_transf_54	p.A13V	ENST00000264968.3	37	c.38	CCDS2036.1	2	.	.	.	.	.	.	.	.	.	.	G	6.067	0.380756	0.11466	.	.	ENSG00000071073	ENST00000393487;ENST00000264968;ENST00000409391	T;T;T	0.19938	2.11;2.11;2.11	5.07	-2.55	0.06288	.	0.406531	0.26859	N	0.022122	T	0.03651	0.0104	N	0.00347	-1.61	0.23036	N	0.998396	B	0.02656	0.0	B	0.01281	0.0	T	0.41592	-0.9500	10	0.02654	T	1	-3.9485	11.6872	0.51494	0.7646:0.0:0.2354:0.0	.	13	Q9UM21	MGT4A_HUMAN	V	13	ENSP00000377127:A13V;ENSP00000264968:A13V;ENSP00000386841:A13V	ENSP00000264968:A13V	A	-	2	0	MGAT4A	98709190	1.000000	0.71417	0.902000	0.35471	0.967000	0.64934	2.346000	0.44027	-0.403000	0.07622	-0.136000	0.14681	GCA	MGAT4A	-	NULL	ENSG00000071073		0.403	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT4A	HGNC	protein_coding	OTTHUMT00000252988.2	-	0.00	88	0	G	NM_012214		99342758	-1	tier1	-	no_errors	ENST00000264968	ensembl	human	known	74_37	missense	20.93	68	18	SNP	0.991	A
TRIM13	10206	genome.wustl.edu	37	13	50570574	50570574	+	5'Flank	DEL	T	T	-			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr13:50570574delT	ENST00000378182.3	+	0	0				MIR3613_ENST00000579844.1_RNA|TRIM13_ENST00000356017.4_5'Flank|TRIM13_ENST00000457662.2_5'Flank|TRIM13_ENST00000420995.2_5'Flank	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13						anatomical structure morphogenesis (GO:0009653)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell death (GO:0010942)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macroautophagy (GO:0016239)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		AGGGTTGGGCTTTTTTTTTTG	0.493																																																	0																																										SO:0001631	upstream_gene_variant	0			AF220127	CCDS9423.1, CCDS41888.1	13q14	2013-01-09	2011-01-25	2006-09-26	ENSG00000204977	ENSG00000204977		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9976	protein-coding gene	gene with protein product		605661	"""ret finger protein 2"", ""tripartite motif-containing 13"""	RFP2		9599022	Standard	NM_213590		Approved	Leu5, RNF77, DLEU5	uc001vdp.1	O60858	OTTHUMG00000016926		13.37:g.50570574delT	Exception_encountered		B2RB49|Q5UBW0|Q5W0U8|Q5W0U9|Q9BQ47|Q9C021	RNA	DEL	-	NULL	ENST00000378182.3	37	NULL	CCDS9423.1	13																																																																																			MIR3613	-	-	ENSG00000264864		0.493	TRIM13-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	MIR3613	HGNC	protein_coding	OTTHUMT00000354875.1		0.00	48	0	T	NM_001007278		50570574	-1	tier1		no_errors	ENST00000579844	ensembl	human	known	74_37	rna	13.33	26	4	DEL	1.000	-
MIR520E	574461	genome.wustl.edu	37	19	54177477	54177477	+	RNA	SNP	G	G	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr19:54177477G>A	ENST00000384867.1	+	0	0				MIR1323_ENST00000408090.1_RNA|MIR498_ENST00000385134.1_RNA	NR_030183.1				microRNA 520e																		TGAAGCTCAGGCTGTGATTTC	0.488																																																	0													109.0	105.0	106.0					19																	54177477		1568	3582	5150			0					19q13.42	2011-09-12		2008-12-18	ENSG00000207599	ENSG00000207599		"""ncRNAs / Micro RNAs"""	32093	non-coding RNA	RNA, micro				MIRN520E			Standard	NR_030183		Approved	hsa-mir-520e	uc021uzn.1				19.37:g.54177477G>A				RNA	SNP	-	NULL	ENST00000384867.1	37	NULL		19																																																																																			MIR498	-	-	ENSG00000207869		0.488	MIR520E-201	KNOWN	basic	miRNA	MIR498	HGNC	miRNA		-	0.00	44	0	G	NR_030183		54177477	+1	tier1	-	no_errors	ENST00000385134	ensembl	human	known	74_37	rna	39.39	20	13	SNP	0.080	A
MMP11	4320	genome.wustl.edu	37	22	24122846	24122846	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr22:24122846G>A	ENST00000215743.3	+	4	612	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	187					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	AAGACTCACCGAGAAGGGGAT	0.602																																																	0													69.0	67.0	68.0					22																	24122846		2203	4300	6503	SO:0001583	missense	0				CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"""matrix metalloproteinase 11 (stromelysin 3)"""	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.560G>A	22.37:g.24122846G>A	ENSP00000215743:p.Arg187Gln		Q5FX24|Q6PEZ6|Q9UC26	Missense_Mutation	SNP	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.R187Q	ENST00000215743.3	37	c.560	CCDS13816.1	22	.	.	.	.	.	.	.	.	.	.	G	31	5.067808	0.93950	.	.	ENSG00000099953	ENST00000215743	T	0.20738	2.05	4.12	4.12	0.48240	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.41858	0.1177	L	0.56340	1.77	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.19418	-1.0306	10	0.48119	T	0.1	.	16.6852	0.85303	0.0:0.0:1.0:0.0	.	187	P24347	MMP11_HUMAN	Q	187	ENSP00000215743:R187Q	ENSP00000215743:R187Q	R	+	2	0	MMP11	22452846	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.301000	0.72782	2.606000	0.88127	0.650000	0.86243	CGA	MMP11	-	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo	ENSG00000099953		0.602	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP11	HGNC	protein_coding	OTTHUMT00000319891.2	-	0.00	52	0	G	NM_005940		24122846	+1	tier1	-	no_errors	ENST00000215743	ensembl	human	known	74_37	missense	15.62	27	5	SNP	1.000	A
MMP20	9313	genome.wustl.edu	37	11	102496048	102496048	+	Start_Codon_SNP	SNP	C	C	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr11:102496048C>T	ENST00000260228.2	-	1	15	c.3G>A	c.(1-3)atG>atA	p.M1I	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	0					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	GGAGCACCTTCATCCCCTCAC	0.532																																																	0													121.0	92.0	102.0					11																	102496048		2203	4299	6502	SO:0001582	initiator_codon_variant	0			Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"""enamelysin"""	604629	"""matrix metalloproteinase 20 (enamelysin)"""			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.3G>A	11.37:g.102496048C>T	ENSP00000260228:p.Met1Ile		D3DUA8|Q9H3Q0	Missense_Mutation	SNP	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.M1I	ENST00000260228.2	37	c.3	CCDS8318.1	11	.	.	.	.	.	.	.	.	.	.	C	15.44	2.833217	0.50951	.	.	ENSG00000137674	ENST00000260228	T	0.11930	2.73	4.93	4.93	0.64822	.	0.065603	0.64402	D	0.000020	T	0.12050	0.0293	.	.	.	0.39172	D	0.962618	B	0.32620	0.378	B	0.29077	0.098	T	0.04752	-1.0929	9	0.87932	D	0	.	11.1978	0.48724	0.0:0.9118:0.0:0.0882	.	1	O60882	MMP20_HUMAN	I	1	ENSP00000260228:M1I	ENSP00000260228:M1I	M	-	3	0	MMP20	102001258	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	4.382000	0.59594	2.573000	0.86826	0.563000	0.77884	ATG	MMP20	-	pirsf_Pept_M10A_Metazoans	ENSG00000137674		0.532	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP20	HGNC	protein_coding	OTTHUMT00000398012.1		0.00	27	0	C		Missense_Mutation	102496048	-1			no_errors	ENST00000260228	ensembl	human	known	74_37	missense	17.39	19	4	SNP	1.000	T
DPM1	8813	genome.wustl.edu	37	20	49576374	49576374	+	5'Flank	SNP	C	C	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr20:49576374C>T	ENST00000371588.5	-	0	0				DPM1_ENST00000466152.1_5'Flank|DPM1_ENST00000371583.5_5'Flank|MOCS3_ENST00000244051.1_Missense_Mutation_p.P332L|DPM1_ENST00000371582.4_5'Flank	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						CTACTGAGCCCAGAGGAGCGT	0.567																																																	0													119.0	118.0	119.0					20																	49576374		2203	4300	6503	SO:0001631	upstream_gene_variant	0			AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"""Glycosyltransferase family 2 domain containing"""	3005	protein-coding gene	gene with protein product	"""DPM synthase complex, catalytic subunit"""	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49576374C>T	Exception_encountered		O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_MoeZ_MoeB,pfam_Rhodanese-like_dom,superfamily_Molybdenum_cofac_synth_MoeB,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	p.P332L	ENST00000371588.5	37	c.995	CCDS13434.1	20	.	.	.	.	.	.	.	.	.	.	C	4.504	0.093518	0.08632	.	.	ENSG00000124217	ENST00000244051	T	0.29142	1.58	4.89	3.89	0.44902	Rhodanese-like (1);Molybdenum cofactor biosynthesis, MoeB (1);	0.283692	0.37437	N	0.002087	T	0.30603	0.0770	M	0.68952	2.095	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.09975	-1.0650	9	.	.	.	-8.1086	12.0028	0.53241	0.1232:0.7155:0.1614:0.0	.	332	O95396	MOCS3_HUMAN	L	332	ENSP00000244051:P332L	.	P	+	2	0	MOCS3	49009781	0.001000	0.12720	0.967000	0.41034	0.107000	0.19398	0.813000	0.27225	2.539000	0.85634	0.561000	0.74099	CCA	MOCS3	-	superfamily_Molybdenum_cofac_synth_MoeB	ENSG00000124217		0.567	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOCS3	HGNC	protein_coding	OTTHUMT00000079716.1	-	0.00	42	0	C	NM_003859		49576374	+1	tier1	-	no_errors	ENST00000244051	ensembl	human	known	74_37	missense	26.09	34	12	SNP	0.000	T
MOK	5891	genome.wustl.edu	37	14	102732205	102732205	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr14:102732205C>T	ENST00000361847.2	-	3	398	c.167G>A	c.(166-168)cGc>cAc	p.R56H	MOK_ENST00000193029.6_5'UTR|MOK_ENST00000522874.1_Missense_Mutation_p.R56H|MOK_ENST00000524214.1_Intron	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	56	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)										CGGATTCAGGCGCCTCAGTGC	0.363																																																	0													150.0	141.0	144.0					14																	102732205		2203	4300	6503	SO:0001583	missense	0			AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"""renal tumor antigen"""	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.167G>A	14.37:g.102732205C>T	ENSP00000355304:p.Arg56His		B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R56H	ENST00000361847.2	37	c.167	CCDS9971.1	14	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084796	0.76642	.	.	ENSG00000080823	ENST00000522874;ENST00000361847	T;T	0.66638	-0.22;-0.22	5.66	3.82	0.43975	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.120882	0.52532	D	0.000061	T	0.71350	0.3329	L	0.39085	1.19	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	T	0.72124	-0.4385	10	0.87932	D	0	-8.189	10.6312	0.45538	0.1322:0.7985:0.0:0.0692	.	56	Q9UQ07	MOK_HUMAN	H	56	ENSP00000429469:R56H;ENSP00000355304:R56H	ENSP00000355304:R56H	R	-	2	0	RAGE	101801958	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	4.515000	0.60489	0.729000	0.32403	0.655000	0.94253	CGC	MOK	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000080823		0.363	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MOK	HGNC	protein_coding	OTTHUMT00000380848.3	-	0.00	63	0	C			102732205	-1	tier1	-	no_errors	ENST00000361847	ensembl	human	known	74_37	missense	21.84	68	19	SNP	1.000	T
MSTO1	55154	genome.wustl.edu	37	1	155582929	155582929	+	Silent	SNP	A	A	G			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:155582929A>G	ENST00000245564.2	+	11	1212	c.1188A>G	c.(1186-1188)ccA>ccG	p.P396P	MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|RP11-29H23.4_ENST00000456382.2_RNA|MSTO1_ENST00000368341.4_Silent_p.P361P|MSTO1_ENST00000483734.1_3'UTR	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	396					mitochondrion distribution (GO:0048311)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					GAGCCACCCCATGGACCCCAC	0.567																																																	0													67.0	68.0	68.0					1																	155582929		2203	4295	6498	SO:0001819	synonymous_variant	0			BX537684	CCDS1114.1	1q22	2013-08-21	2013-08-21		ENSG00000125459	ENSG00000125459			29678	protein-coding gene	gene with protein product			"""misato homolog 1 (Drosophila)"""			16545939, 17349998	Standard	NM_018116		Approved	FLJ10504, LST005, MST, misato	uc001fky.4	Q9BUK6	OTTHUMG00000014014	ENST00000245564.2:c.1188A>G	1.37:g.155582929A>G			Q53GR8|Q5CZ69|Q5T717|Q68CT6|Q7LBZ8|Q7Z3M7|Q7Z558|Q8TE05|Q9NQX2|Q9NVU4	Silent	SNP	pfam_Misato_II_tubulin-like,pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase	p.P396	ENST00000245564.2	37	c.1188	CCDS1114.1	1																																																																																			MSTO1	-	NULL	ENSG00000125459		0.567	MSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSTO1	HGNC	protein_coding	OTTHUMT00000039408.1	-	0.00	66	0	A	NM_018116		155582929	+1	tier1	-	no_errors	ENST00000245564	ensembl	human	known	74_37	silent	18.52	44	10	SNP	0.769	G
MTUS2	23281	genome.wustl.edu	37	13	29600389	29600389	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr13:29600389G>T	ENST00000431530.3	+	1	1642	c.1584G>T	c.(1582-1584)aaG>aaT	p.K528N		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	518						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						ATGCAGATAAGATTGAAAGCA	0.502																																																	0													86.0	89.0	88.0					13																	29600389		1991	4179	6170	SO:0001583	missense	0			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1584G>T	13.37:g.29600389G>T	ENSP00000392057:p.Lys528Asn		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	NULL	p.K528N	ENST00000431530.3	37	c.1584	CCDS45022.1	13	.	.	.	.	.	.	.	.	.	.	g	12.09	1.832391	0.32421	.	.	ENSG00000132938	ENST00000431530	T	0.13538	2.58	5.92	4.1	0.47936	.	0.870924	0.09902	N	0.740953	T	0.12263	0.0298	L	0.36672	1.1	0.21256	N	0.999741	P	0.41848	0.763	B	0.39185	0.293	T	0.20273	-1.0280	9	.	.	.	.	8.7776	0.34771	0.1746:0.0:0.8254:0.0	.	518	Q5JR59	MTUS2_HUMAN	N	528	ENSP00000392057:K528N	.	K	+	3	2	MTUS2	28498389	0.009000	0.17119	0.008000	0.14137	0.068000	0.16541	0.950000	0.29122	0.751000	0.32900	0.655000	0.94253	AAG	MTUS2	-	NULL	ENSG00000132938		0.502	MTUS2-002	KNOWN	basic|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044336.3		0.00	42	0	G	XM_166270		29600389	+1			no_errors	ENST00000431530	ensembl	human	known	74_37	missense	15.15	28	5	SNP	0.029	T
MUC21	394263	genome.wustl.edu	37	6	30955265	30955265	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr6:30955265C>G	ENST00000376296.3	+	2	1554	c.1313C>G	c.(1312-1314)tCt>tGt	p.S438C	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	438	Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GCCACCAACTCTGGGTCCAGT	0.577																																																	0													124.0	119.0	121.0					6																	30955265		2203	4300	6503	SO:0001583	missense	0			AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.1313C>G	6.37:g.30955265C>G	ENSP00000365473:p.Ser438Cys		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	NULL	p.S438C	ENST00000376296.3	37	c.1313	CCDS34388.1	6	.	.	.	.	.	.	.	.	.	.	c	10.21	1.286731	0.23478	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.02301	4.35	3.96	2.16	0.27623	.	.	.	.	.	T	0.01695	0.0054	L	0.27053	0.805	0.09310	N	1	D	0.71674	0.998	P	0.61874	0.895	T	0.50372	-0.8836	9	0.66056	D	0.02	0.2489	6.228	0.20718	0.0:0.7655:0.0:0.2345	.	438	Q5SSG8	MUC21_HUMAN	C	288;438	ENSP00000365473:S438C	ENSP00000365473:S438C	S	+	2	0	MUC21	31063244	0.060000	0.20803	0.001000	0.08648	0.006000	0.05464	0.434000	0.21494	0.437000	0.26423	0.591000	0.81541	TCT	MUC21	-	NULL	ENSG00000204544		0.577	MUC21-001	KNOWN	basic|CCDS	protein_coding	MUC21	HGNC	protein_coding	OTTHUMT00000128579.3	-	0.00	108	0	C	NM_001010909		30955265	+1	tier1	-	no_errors	ENST00000376296	ensembl	human	known	74_37	missense	8.70	84	8	SNP	0.004	G
MUSK	4593	genome.wustl.edu	37	9	113459655	113459655	+	Silent	SNP	C	C	T	rs41279051	byFrequency	TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr9:113459655C>T	ENST00000374448.4	+	5	671	c.537C>T	c.(535-537)aaC>aaT	p.N179N	MUSK_ENST00000189978.5_Silent_p.N179N|MUSK_ENST00000416899.2_Silent_p.N179N|MUSK_ENST00000374440.3_Silent_p.N61N|MUSK_ENST00000374439.1_Silent_p.N61N	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	179	Ig-like 2.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.N179N(3)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GGATTCATAACGTACAAAAGG	0.448													C|||	611	0.122005	0.0068	0.072	5008	,	,		15690	0.1974		0.171	False		,,,				2504	0.1851																3	Substitution - coding silent(3)	stomach(1)|kidney(1)|central_nervous_system(1)						C	,,	136,3704		0,136,1784	169.0	165.0	167.0		537,537,537	4.7	1.0	9	dbSNP_127	167	1435,6849		119,1197,2826	no	coding-synonymous,coding-synonymous,coding-synonymous	MUSK	NM_001166280.1,NM_001166281.1,NM_005592.3	,,	119,1333,4610	TT,TC,CC		17.3225,3.5417,12.9578	,,	179/784,179/774,179/870	113459655	1571,10553	1920	4142	6062	SO:0001819	synonymous_variant	0			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.537C>T	9.37:g.113459655C>T			Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.N179	ENST00000374448.4	37	c.537	CCDS48005.1	9																																																																																			MUSK	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000030304		0.448	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUSK	HGNC	protein_coding			0.00	51	0	C			113459655	+1			no_errors	ENST00000374448	ensembl	human	known	74_37	silent	5.26	54	3	SNP	1.000	T
MYO9B	4650	genome.wustl.edu	37	19	17212764	17212764	+	Silent	SNP	C	C	T	rs55955348		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr19:17212764C>T	ENST00000594824.1	+	2	384	c.237C>T	c.(235-237)gaC>gaT	p.D79D	CTD-2528A14.5_ENST00000597045.1_RNA|MYO9B_ENST00000397274.2_Silent_p.D79D|MYO9B_ENST00000595618.1_Silent_p.D79D			Q13459	MYO9B_HUMAN	myosin IXB	79	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GGGTGCTGGACGCCAACGACT	0.632																																																	0													50.0	57.0	55.0					19																	17212764		2089	4207	6296	SO:0001819	synonymous_variant	0				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.237C>T	19.37:g.17212764C>T			O75314|Q9NUJ2|Q9UHN0	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.D79	ENST00000594824.1	37	c.237		19																																																																																			MYO9B	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc	ENSG00000099331		0.632	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	MYO9B	HGNC	protein_coding	OTTHUMT00000463236.1		0.00	30	0	C			17212764	+1			no_errors	ENST00000594824	ensembl	human	known	74_37	silent	9.68	28	3	SNP	0.284	T
MYO9B	4650	genome.wustl.edu	37	19	17316815	17316815	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr19:17316815G>A	ENST00000594824.1	+	32	5258	c.5111G>A	c.(5110-5112)aGc>aAc	p.S1704N	CTD-3032J10.3_ENST00000601929.1_RNA|MYO9B_ENST00000397274.2_Missense_Mutation_p.S1704N|MYO9B_ENST00000595618.1_Missense_Mutation_p.S1704N			Q13459	MYO9B_HUMAN	myosin IXB	1704	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.|Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TGCGTAGACAGCCTGACCAGC	0.662																																																	0													31.0	39.0	36.0					19																	17316815		2125	4220	6345	SO:0001583	missense	0				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.5111G>A	19.37:g.17316815G>A	ENSP00000471367:p.Ser1704Asn		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.S1704N	ENST00000594824.1	37	c.5111		19	.	.	.	.	.	.	.	.	.	.	G	10.31	1.314797	0.23908	.	.	ENSG00000099331	ENST00000397274;ENST00000319396	T	0.44881	0.91	4.74	2.46	0.29980	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.376195	0.22676	N	0.057017	T	0.32882	0.0844	M	0.62723	1.935	0.27403	N	0.954787	B;B;B	0.16166	0.016;0.016;0.016	B;B;B	0.14578	0.01;0.01;0.011	T	0.06698	-1.0812	10	0.25106	T	0.35	.	4.8592	0.13575	0.1962:0.2997:0.5041:0.0	.	1704;1704;1710	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	N	1704;49	ENSP00000380444:S1704N	ENSP00000314032:S49N	S	+	2	0	MYO9B	17177815	0.987000	0.35691	1.000000	0.80357	0.871000	0.50021	0.988000	0.29616	2.342000	0.79632	0.561000	0.74099	AGC	MYO9B	-	superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom	ENSG00000099331		0.662	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	MYO9B	HGNC	protein_coding	OTTHUMT00000463236.1		0.00	69	0	G			17316815	+1			no_errors	ENST00000594824	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.989	A
NBPF15	284565	genome.wustl.edu	37	1	148579636	148579636	+	Missense_Mutation	SNP	T	T	C	rs200012164	byFrequency	TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:148579636T>C	ENST00000369187.3	+	6	695	c.206T>C	c.(205-207)tTt>tCt	p.F69S	NBPF15_ENST00000464336.2_3'UTR|NBPF15_ENST00000442702.2_Missense_Mutation_p.F69S	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	69						cytoplasm (GO:0005737)				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					CTCATAAAATTTATGCTGAGG	0.527																																																	0													12.0	18.0	17.0					1																	148579636		884	2001	2885	SO:0001583	missense	0			BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"""neuroblastoma breakpoint family"""	28791	protein-coding gene	gene with protein product		610414, 614005	"""neuroblastoma breakpoint family, member 16"""	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.206T>C	1.37:g.148579636T>C	ENSP00000358188:p.Phe69Ser		Q3BBV9|Q8IX77	Missense_Mutation	SNP	pfam_NBPF_dom	p.F69S	ENST00000369187.3	37	c.206	CCDS932.1	1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.454233	0.00173	.	.	ENSG00000243452	ENST00000442702;ENST00000369187	T;T	0.02050	4.48;4.48	0.566	0.566	0.17317	.	.	.	.	.	T	0.00144	0.0004	N	0.00170	-1.935	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34750	-0.9816	8	0.02654	T	1	.	.	.	.	.	69	Q8N660	NBPFF_HUMAN	S	69	ENSP00000416864:F69S;ENSP00000358188:F69S	ENSP00000358188:F69S	F	+	2	0	NBPF15	146846260	0.001000	0.12720	0.007000	0.13788	0.014000	0.08584	0.004000	0.13106	-0.220000	0.09988	-1.160000	0.01791	TTT	NBPF15	-	NULL	ENSG00000243452		0.527	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NBPF15	HGNC	protein_coding	OTTHUMT00000038609.3	-	0.00	33	0	T	NM_173638		148579636	+1	tier1	rs200012164	no_errors	ENST00000369187	ensembl	human	known	74_37	missense	13.04	20	3	SNP	0.009	C
NDST2	8509	genome.wustl.edu	37	10	75564538	75564538	+	Silent	SNP	C	C	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr10:75564538C>T	ENST00000309979.6	-	9	2392	c.1836G>A	c.(1834-1836)caG>caA	p.Q612Q	RP11-574K11.31_ENST00000603027.1_Silent_p.Q612Q|NDST2_ENST00000299641.4_Silent_p.Q489Q			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	612	Heparan sulfate N-sulfotransferase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					CACCTGTTTTCTGGGGTCCCA	0.478																																																	0													102.0	96.0	98.0					10																	75564538		2203	4300	6503	SO:0001819	synonymous_variant	0			U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"""Sulfotransferases, membrane-bound"""	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.1836G>A	10.37:g.75564538C>T			Q2TB32|Q59H89	Silent	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.Q612	ENST00000309979.6	37	c.1836	CCDS7335.1	10																																																																																			NDST2	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000166507		0.478	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST2	HGNC	protein_coding	OTTHUMT00000048710.1	-	0.00	71	0	C	NM_003635		75564538	-1	tier1	-	no_errors	ENST00000309979	ensembl	human	known	74_37	silent	8.96	61	6	SNP	0.999	T
NDUFAF7	55471	genome.wustl.edu	37	2	37468805	37468805	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr2:37468805C>T	ENST00000002125.4	+	5	533	c.493C>T	c.(493-495)Caa>Taa	p.Q165*	NDUFAF7_ENST00000336237.6_Intron|NDUFAF7_ENST00000483999.1_3'UTR	NM_144736.4	NP_653337.1	Q7L592	NDUF7_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 7	165					methylation (GO:0032259)|mitochondrial respiratory chain complex I assembly (GO:0032981)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|methyltransferase activity (GO:0008168)										AAGTGAGATTCAAGCATTGAC	0.403																																																	0													96.0	85.0	89.0					2																	37468805		2203	4300	6503	SO:0001587	stop_gained	0				CCDS1788.1, CCDS42673.1	2p22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000003509	ENSG00000003509		"""Mitochondrial respiratory chain complex assembly factors"""	28816	protein-coding gene	gene with protein product	"""mitochondrial dysfunction protein A homolog"""	615898	"""chromosome 2 open reading frame 56"""	C2orf56			Standard	NM_144736		Approved	PRO1853, MidA	uc002rqa.4	Q7L592	OTTHUMG00000128468	ENST00000002125.4:c.493C>T	2.37:g.37468805C>T	ENSP00000002125:p.Gln165*		Q7Z399|Q9P1G3	Nonsense_Mutation	SNP	pfam_MidA	p.Q165*	ENST00000002125.4	37	c.493	CCDS1788.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.131772	0.94473	.	.	ENSG00000003509	ENST00000002125;ENST00000431821;ENST00000439218;ENST00000432075	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.8552	20.1346	0.98019	0.0:1.0:0.0:0.0	.	.	.	.	X	165;86;123;123	.	.	Q	+	1	0	C2orf56	37322309	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.585000	0.74062	2.765000	0.95021	0.655000	0.94253	CAA	NDUFAF7	-	pfam_MidA	ENSG00000003509		0.403	NDUFAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFAF7	HGNC	protein_coding	OTTHUMT00000250267.1	-	0.00	43	0	C	NM_144736		37468805	+1	tier1	-	no_errors	ENST00000002125	ensembl	human	known	74_37	nonsense	12.50	41	6	SNP	1.000	T
NEK7	140609	genome.wustl.edu	37	1	198222262	198222262	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:198222262A>T	ENST00000367385.4	+	3	492	c.150A>T	c.(148-150)agA>agT	p.R50S	NEK7_ENST00000538004.1_Missense_Mutation_p.R50S|NEK7_ENST00000367383.1_Missense_Mutation_p.R50S	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	50	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						AAGTTTATAGAGCAGCCTGTC	0.338																																																	0													61.0	69.0	66.0					1																	198222262		2203	4300	6503	SO:0001583	missense	0			AB062450	CCDS1394.1	1q31.3	2012-11-15	2012-11-15		ENSG00000151414	ENSG00000151414			13386	protein-coding gene	gene with protein product		606848	"""NIMA (never in mitosis gene a)-related kinase 7"""			11701951	Standard	NM_133494		Approved		uc001gun.4	Q8TDX7	OTTHUMG00000035658	ENST00000367385.4:c.150A>T	1.37:g.198222262A>T	ENSP00000356355:p.Arg50Ser		A6NGT8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R50S	ENST00000367385.4	37	c.150	CCDS1394.1	1	.	.	.	.	.	.	.	.	.	.	A	17.44	3.390124	0.61956	.	.	ENSG00000151414	ENST00000367385;ENST00000538004;ENST00000367383;ENST00000544035;ENST00000391974	T;T;T;T;T	0.57752	1.0;1.0;0.52;0.38;3.08	5.34	3.04	0.35103	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.048270	0.85682	D	0.000000	T	0.46367	0.1389	L	0.42008	1.315	0.58432	D	0.999999	P	0.35307	0.494	B	0.39339	0.297	T	0.42649	-0.9439	10	0.66056	D	0.02	.	9.64	0.39833	0.8592:0.0:0.1408:0.0	.	50	Q8TDX7	NEK7_HUMAN	S	50	ENSP00000356355:R50S;ENSP00000444621:R50S;ENSP00000356353:R50S;ENSP00000439095:R50S;ENSP00000375835:R50S	ENSP00000356353:R50S	R	+	3	2	NEK7	196488885	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.329000	0.52060	0.484000	0.27630	0.528000	0.53228	AGA	NEK7	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000151414		0.338	NEK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK7	HGNC	protein_coding	OTTHUMT00000086550.2	-	0.00	54	0	A	NM_133494		198222262	+1	tier1	-	no_errors	ENST00000367385	ensembl	human	known	74_37	missense	31.48	37	17	SNP	1.000	T
NKIRAS1	28512	genome.wustl.edu	37	3	23942371	23942371	+	Silent	SNP	C	C	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr3:23942371C>T	ENST00000443659.2	-	3	1041	c.264G>A	c.(262-264)gtG>gtA	p.V88V	NKIRAS1_ENST00000415901.2_Silent_p.V88V|NKIRAS1_ENST00000437230.1_Silent_p.V88V|NKIRAS1_ENST00000388759.3_Silent_p.V88V|NKIRAS1_ENST00000412028.1_Silent_p.V88V|NKIRAS1_ENST00000421515.2_Silent_p.V88V|NKIRAS1_ENST00000425478.2_Silent_p.V88V|NKIRAS1_ENST00000416026.2_Silent_p.V88V			Q9NYS0	KBRS1_HUMAN	NFKB inhibitor interacting Ras-like 1	88	Interactions with NFKBIA and NFKBIB.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						CAAGGTTATTCACACTGTACA	0.383																																																	0													123.0	117.0	119.0					3																	23942371		2203	4300	6503	SO:0001819	synonymous_variant	0			AF229839	CCDS33717.1	3p24.1	2014-05-09	2004-05-20		ENSG00000197885	ENSG00000197885			17899	protein-coding gene	gene with protein product		604496	"""NFKB inhibitor interacting Ras-like protein 1"""			10657303	Standard	NM_020345		Approved	KBRAS1, kappaB-Ras1	uc003ccj.3	Q9NYS0	OTTHUMG00000155605	ENST00000443659.2:c.264G>A	3.37:g.23942371C>T			Q96K18	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.V88	ENST00000443659.2	37	c.264	CCDS33717.1	3																																																																																			NKIRAS1	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,tigrfam_Small_GTP-bd_dom	ENSG00000197885		0.383	NKIRAS1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	NKIRAS1	HGNC	protein_coding	OTTHUMT00000340876.2	-	0.00	54	0	C	NM_020345		23942371	-1	tier1	-	no_errors	ENST00000388759	ensembl	human	known	74_37	silent	10.17	53	6	SNP	1.000	T
NLRC3	197358	genome.wustl.edu	37	16	3607659	3607659	+	RNA	SNP	G	G	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr16:3607659G>A	ENST00000301749.7	-	0	2439				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTTGTTACTGATCTGGTTCT	0.512																																																	0													81.0	78.0	79.0					16																	3607659		1984	4158	6142			0			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3607659G>A			Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Silent	SNP	superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.I725	ENST00000301749.7	37	c.2175		16																																																																																			NLRC3	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000167984		0.512	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	NLRC3	HGNC	polymorphic_pseudogene		-	0.00	58	0	G	NM_178844		3607659	-1	tier1	-	no_errors	ENST00000448023	ensembl	human	known	74_37	silent	16.00	42	8	SNP	0.977	A
NPY1R	4886	genome.wustl.edu	37	4	164247644	164247644	+	Silent	SNP	C	C	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr4:164247644C>T	ENST00000296533.2	-	2	594	c.63G>A	c.(61-63)aaG>aaA	p.K21K	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	21					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GCTGGGCATTCTTCTCTGAGA	0.363																																																	0													94.0	92.0	93.0					4																	164247644		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.63G>A	4.37:g.164247644C>T			B2R6H5	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_Glucose_rcpt_Git3_N,pfscan_GPCR_Rhodpsn_7TM,prints_NPY1_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.K21	ENST00000296533.2	37	c.63	CCDS34089.1	4																																																																																			NPY1R	-	NULL	ENSG00000164128		0.363	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPY1R	HGNC	protein_coding	OTTHUMT00000364685.1	-	0.00	39	0	C			164247644	-1	tier1	-	no_errors	ENST00000296533	ensembl	human	known	74_37	silent	16.00	21	4	SNP	0.000	T
NRXN3	9369	genome.wustl.edu	37	14	79434617	79434617	+	Silent	SNP	T	T	C			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr14:79434617T>C	ENST00000554719.1	+	11	2442	c.1951T>C	c.(1951-1953)Ttg>Ctg	p.L651L	NRXN3_ENST00000335750.5_Silent_p.L651L	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	257					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ATCAGTGGACTTGAATGGACG	0.512																																																	0													136.0	117.0	123.0					14																	79434617		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1951T>C	14.37:g.79434617T>C			A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G	p.L1013	ENST00000554719.1	37	c.3037	CCDS9870.1	14																																																																																			NRXN3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000021645		0.512	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRXN3	HGNC	protein_coding	OTTHUMT00000413787.1	-	0.00	84	0	T	NM_001105250		79434617	+1	tier1	-	no_errors	ENST00000554738	ensembl	human	known	74_37	silent	13.21	46	7	SNP	1.000	C
OR6B1	135946	genome.wustl.edu	37	7	143701769	143701769	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr7:143701769G>A	ENST00000408922.2	+	1	748	c.680G>A	c.(679-681)tGc>tAc	p.C227Y		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					ACCATATTATGCATGCCCACA	0.453																																																	0													210.0	198.0	202.0					7																	143701769		2024	4192	6216	SO:0001583	missense	0				CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.680G>A	7.37:g.143701769G>A	ENSP00000386151:p.Cys227Tyr		A4D2G2|B9EH47|Q6IFP6|Q96R38	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C227Y	ENST00000408922.2	37	c.680	CCDS43667.1	7	.	.	.	.	.	.	.	.	.	.	G	8.103	0.777023	0.16120	.	.	ENSG00000221813	ENST00000408922	T	0.00084	8.75	5.17	3.22	0.36961	GPCR, rhodopsin-like superfamily (1);	0.726576	0.11015	U	0.609012	T	0.00109	0.0003	N	0.20986	0.625	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32666	-0.9898	10	0.87932	D	0	.	5.7254	0.18010	0.2977:0.0:0.7023:0.0	.	227	O95007	OR6B1_HUMAN	Y	227	ENSP00000386151:C227Y	ENSP00000386151:C227Y	C	+	2	0	OR6B1	143332702	0.000000	0.05858	0.259000	0.24435	0.607000	0.37147	-0.091000	0.11146	1.409000	0.46915	0.655000	0.94253	TGC	OR6B1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000221813		0.453	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6B1	HGNC	protein_coding	OTTHUMT00000349566.1	-	0.00	62	0	G			143701769	+1	tier1	-	no_errors	ENST00000408922	ensembl	human	known	74_37	missense	30.19	37	16	SNP	0.016	A
OR6C68	403284	genome.wustl.edu	37	12	55886520	55886520	+	Missense_Mutation	SNP	G	G	A	rs145845899		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr12:55886520G>A	ENST00000548615.1	+	1	359	c.359G>A	c.(358-360)cGc>cAc	p.R120H	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|OR6C68_ENST00000379662.1_Missense_Mutation_p.R125H|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005519.2	NP_001005519.2	A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						TCATATGATCGCTATGTGGCC	0.368																																																	0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	164.0	153.0	156.0		359	2.0	0.1	12	dbSNP_134	156	0,8600		0,0,4300	no	missense	OR6C68	NM_001005519.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	120/313	55886520	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS31826.1, CCDS31826.2	12q13.2	2013-09-23			ENSG00000205327	ENSG00000205327		"""GPCR / Class A : Olfactory receptors"""	31297	protein-coding gene	gene with protein product							Standard	NM_001005519		Approved		uc031qhq.1	A6NDL8	OTTHUMG00000169958	ENST00000548615.1:c.359G>A	12.37:g.55886520G>A	ENSP00000448811:p.Arg120His			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.R125H	ENST00000548615.1	37	c.374	CCDS31826.2	12	.	.	.	.	.	.	.	.	.	.	G	12.94	2.087840	0.36855	2.27E-4	0.0	ENSG00000205327	ENST00000379662;ENST00000548615	T;T	0.77489	-1.1;-1.1	4.77	1.95	0.26073	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000095	T	0.78767	0.4335	M	0.91300	3.195	0.33796	D	0.626109	P	0.52170	0.951	B	0.39419	0.299	D	0.84188	0.0443	10	0.87932	D	0	.	9.8571	0.41092	0.2281:0.0:0.7719:0.0	.	120	A6NDL8	O6C68_HUMAN	H	125;120	ENSP00000368983:R125H;ENSP00000448811:R120H	ENSP00000368983:R125H	R	+	2	0	OR6C68	54172787	1.000000	0.71417	0.128000	0.21923	0.227000	0.25037	4.702000	0.61817	0.331000	0.23511	0.603000	0.83216	CGC	OR6C68	-	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000205327		0.368	OR6C68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C68	HGNC	protein_coding	OTTHUMT00000406677.1	-	0.00	71	0	G			55886520	+1	tier1	rs145845899	no_errors	ENST00000379662	ensembl	human	known	74_37	missense	19.64	45	11	SNP	0.990	A
OSBPL9	114883	genome.wustl.edu	37	1	52246895	52246895	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:52246895C>T	ENST00000428468.1	+	16	1318	c.1316C>T	c.(1315-1317)tCa>tTa	p.S439L	OSBPL9_ENST00000371714.1_Missense_Mutation_p.S426L|OSBPL9_ENST00000530544.1_Missense_Mutation_p.S358L|OSBPL9_ENST00000371710.3_Missense_Mutation_p.S457L|OSBPL9_ENST00000435686.2_Missense_Mutation_p.S274L|OSBPL9_ENST00000337809.4_Missense_Mutation_p.S444L|OSBPL9_ENST00000447887.1_Missense_Mutation_p.S449L|OSBPL9_ENST00000453295.1_Missense_Mutation_p.S422L|OSBPL9_ENST00000361556.5_Missense_Mutation_p.S329L|OSBPL9_ENST00000531828.1_Missense_Mutation_p.S274L|OSBPL9_ENST00000462759.1_Missense_Mutation_p.S261L|OSBPL9_ENST00000486942.1_Missense_Mutation_p.S261L			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	439					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						TGGTACCTCTCAGCCTTTCAT	0.433																																																	0													134.0	109.0	118.0					1																	52246895		2203	4300	6503	SO:0001583	missense	0			AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.1316C>T	1.37:g.52246895C>T	ENSP00000407168:p.Ser439Leu		B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S457L	ENST00000428468.1	37	c.1370	CCDS41332.3	1	.	.	.	.	.	.	.	.	.	.	C	36	5.662139	0.96734	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000531828;ENST00000361556;ENST00000462759;ENST00000486942	T;T;T;T;T;T;T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73	5.08	5.08	0.68730	.	0.132267	0.53938	D	0.000056	T	0.80544	0.4643	H	0.97540	4.025	0.80722	D	1	D;P;D;P;D	0.64830	0.994;0.889;0.975;0.909;0.986	D;P;P;P;P	0.75020	0.985;0.748;0.876;0.837;0.843	D	0.87601	0.2497	10	0.87932	D	0	-9.2366	18.6562	0.91455	0.0:1.0:0.0:0.0	.	422;329;455;439;444	Q86YQ3;Q96SU4-3;B1AKJ7;Q96SU4;B1AKJ6	.;.;.;OSBL9_HUMAN;.	L	426;457;444;449;274;439;422;358;274;329;261;261	ENSP00000360779:S426L;ENSP00000360775:S457L;ENSP00000337265:S444L;ENSP00000412733:S449L;ENSP00000402646:S274L;ENSP00000407168:S439L;ENSP00000413263:S422L;ENSP00000433675:S358L;ENSP00000433083:S274L;ENSP00000354970:S329L;ENSP00000433279:S261L;ENSP00000431980:S261L	ENSP00000337265:S444L	S	+	2	0	OSBPL9	52019483	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.311000	0.78958	2.644000	0.89710	0.655000	0.94253	TCA	OSBPL9	-	pfam_Oxysterol-bd	ENSG00000117859		0.433	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL9	HGNC	protein_coding	OTTHUMT00000022584.4		0.00	67	0	C			52246895	+1			no_errors	ENST00000371710	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	T
AKAP2	11217	genome.wustl.edu	37	9	112900341	112900341	+	Missense_Mutation	SNP	G	G	T	rs373159646|rs34665027|rs150402481	byFrequency	TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr9:112900341G>T	ENST00000259318.7	+	2	2031	c.1824G>T	c.(1822-1824)gaG>gaT	p.E608D	AKAP2_ENST00000374525.1_Missense_Mutation_p.E697D|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E839D|AKAP2_ENST00000555236.1_Missense_Mutation_p.E839D|AKAP2_ENST00000434623.2_Missense_Mutation_p.E697D|AKAP2_ENST00000510514.5_Missense_Mutation_p.E839D|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.E839D	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	608								p.E839_E840insEA(1)|p.E697_E698insEA(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CGACTGTAGAGGAAGCTGAAG	0.507																																																	2	Insertion - In frame(2)	lung(2)											35.0	41.0	39.0					9																	112900341		2203	4300	6503	SO:0001583	missense	0			AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1824G>T	9.37:g.112900341G>T	ENSP00000259318:p.Glu608Asp		B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	pfam_Paralemmin,pfam_RII_binding_1	p.E839D	ENST00000259318.7	37	c.2517	CCDS48003.1	9	.	.	.	.	.	.	.	.	.	.	G	8.566	0.878867	0.17395	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.52526	2.01;2.0;2.01;2.0;1.25;0.67;0.66;1.59	5.74	2.71	0.32032	.	0.830795	0.11118	N	0.597729	T	0.41789	0.1174	L	0.54323	1.7	0.30106	N	0.806963	B;B;B;B;B;B;B;B	0.33549	0.189;0.288;0.293;0.417;0.293;0.008;0.008;0.332	B;B;B;B;B;B;B;B	0.32928	0.034;0.155;0.054;0.116;0.054;0.011;0.011;0.108	T	0.43327	-0.9398	10	0.51188	T	0.08	-17.9654	8.2558	0.31756	0.0741:0.0:0.6511:0.2747	.	608;697;691;697;698;839;839;657	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	D	839;839;839;839;697;697;657;608	ENSP00000363654:E839D;ENSP00000305861:E839D;ENSP00000451476:E839D;ENSP00000421522:E839D;ENSP00000404782:E697D;ENSP00000363649:E697D;ENSP00000419268:E657D;ENSP00000259318:E608D	ENSP00000259318:E608D	E	+	3	2	PALM2-AKAP2;AKAP2	111940162	0.983000	0.35010	0.941000	0.38009	0.190000	0.23558	1.200000	0.32247	0.860000	0.35481	0.650000	0.86243	GAG	PALM2-AKAP2	-	NULL	ENSG00000157654		0.507	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PALM2-AKAP2	HGNC	protein_coding	OTTHUMT00000346067.3		0.00	19	0	G	NM_001004065		112900341	+1			no_errors	ENST00000374530	ensembl	human	known	74_37	missense	11.11	16	2	SNP	0.985	T
PARP9	83666	genome.wustl.edu	37	3	122255181	122255181	+	Silent	SNP	C	C	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr3:122255181C>T	ENST00000360356.2	-	10	2246	c.2019G>A	c.(2017-2019)aaG>aaA	p.K673K	PARP9_ENST00000492382.1_Silent_p.K218K|PARP9_ENST00000477522.2_Silent_p.K638K|PARP9_ENST00000471785.1_Silent_p.K638K|PARP9_ENST00000462315.1_Silent_p.K638K	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	673	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CATTGTCTATCTTCTCCACCT	0.408																																																	0													102.0	93.0	96.0					3																	122255181		2203	4300	6503	SO:0001819	synonymous_variant	0			AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.2019G>A	3.37:g.122255181C>T			A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Silent	SNP	pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.K673	ENST00000360356.2	37	c.2019	CCDS3014.1	3																																																																																			PARP9	-	pfscan_Poly(ADP-ribose)pol_cat_dom	ENSG00000138496		0.408	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARP9	HGNC	protein_coding	OTTHUMT00000355957.1	-	0.00	70	0	C	NM_031458		122255181	-1	tier1	-	no_errors	ENST00000360356	ensembl	human	known	74_37	silent	7.79	71	6	SNP	0.000	T
PCDHB10	56126	genome.wustl.edu	37	5	140574310	140574310	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr5:140574310G>C	ENST00000239446.4	+	1	2369	c.2185G>C	c.(2185-2187)Gtg>Ctg	p.V729L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	729					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V729L(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGCTGCTCGGTGCCCGAGGG	0.672																																																	1	Substitution - Missense(1)	lung(1)											51.0	61.0	57.0					5																	140574310		2203	4298	6501	SO:0001583	missense	0			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.2185G>C	5.37:g.140574310G>C	ENSP00000239446:p.Val729Leu		Q96T99	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V729L	ENST00000239446.4	37	c.2185	CCDS4252.1	5	.	.	.	.	.	.	.	.	.	.	g	6.628	0.484391	0.12641	.	.	ENSG00000120324	ENST00000239446	T	0.49139	0.79	3.28	1.39	0.22231	.	.	.	.	.	T	0.40979	0.1139	M	0.65975	2.015	0.09310	N	1	B	0.28378	0.209	B	0.31245	0.126	T	0.33394	-0.9870	9	0.15952	T	0.53	.	5.5775	0.17231	0.1173:0.3906:0.4921:0.0	.	729	Q9UN67	PCDBA_HUMAN	L	729	ENSP00000239446:V729L	ENSP00000239446:V729L	V	+	1	0	PCDHB10	140554494	0.000000	0.05858	0.008000	0.14137	0.028000	0.11728	-0.085000	0.11250	0.201000	0.20466	-0.708000	0.03648	GTG	PCDHB10	-	NULL	ENSG00000120324		0.672	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB10	HGNC	protein_coding	OTTHUMT00000251821.1	-	0.00	133	0	G	NM_018930		140574310	+1	tier1	-	no_errors	ENST00000239446	ensembl	human	known	74_37	missense	9.41	77	8	SNP	0.000	C
PCSK5	5125	genome.wustl.edu	37	9	78973602	78973602	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr9:78973602G>T	ENST00000545128.1	+	37	5885	c.5347G>T	c.(5347-5349)Gcc>Tcc	p.A1783S		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1783					anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGAAAAACTGGCCGACCCCAA	0.532																																																	0													117.0	112.0	113.0					9																	78973602		876	1991	2867	SO:0001583	missense	0				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.5347G>T	9.37:g.78973602G>T	ENSP00000446280:p.Ala1783Ser		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel	p.A1783S	ENST00000545128.1	37	c.5347	CCDS55320.1	9	.	.	.	.	.	.	.	.	.	.	G	7.217	0.596650	0.13875	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000424854	T;T	0.48201	0.82;1.67	5.88	-2.17	0.07059	.	0.783629	0.11970	N	0.511864	T	0.31009	0.0783	L	0.43152	1.355	0.22693	N	0.998847	.	.	.	.	.	.	T	0.25363	-1.0134	8	0.21014	T	0.42	-2.2119	0.201	0.00145	0.3505:0.1769:0.2049:0.2677	.	.	.	.	S	1783;1513;1483	ENSP00000446280:A1783S;ENSP00000411654:A1483S	ENSP00000365945:A1513S	A	+	1	0	PCSK5	78163422	0.965000	0.33210	0.656000	0.29637	0.143000	0.21401	0.555000	0.23422	-0.086000	0.12550	-1.100000	0.02121	GCC	PCSK5	-	NULL	ENSG00000099139		0.532	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK5	HGNC	protein_coding		-	0.00	52	0	G			78973602	+1	tier1	-	no_errors	ENST00000545128	ensembl	human	known	74_37	missense	19.44	29	7	SNP	0.270	T
PDP1	54704	genome.wustl.edu	37	8	94934978	94934978	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr8:94934978G>A	ENST00000297598.4	+	2	960	c.691G>A	c.(691-693)Gat>Aat	p.D231N	PDP1_ENST00000396200.3_Missense_Mutation_p.D256N|PDP1_ENST00000517764.1_Missense_Mutation_p.D231N|PDP1_ENST00000520728.1_Missense_Mutation_p.D231N	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	231					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.D231H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						GACTGATATTGATGTTAAGGA	0.413																																																	1	Substitution - Missense(1)	pancreas(1)											119.0	119.0	119.0					8																	94934978		2203	4300	6503	SO:0001583	missense	0			AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9279	protein-coding gene	gene with protein product		605993	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit"""	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.691G>A	8.37:g.94934978G>A	ENSP00000297598:p.Asp231Asn		B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.D256N	ENST00000297598.4	37	c.766	CCDS6259.1	8	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901211	0.72754	.	.	ENSG00000164951	ENST00000297598;ENST00000520728;ENST00000396200;ENST00000517764;ENST00000518827	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	6.16	6.16	0.99307	Protein phosphatase 2C-like (5);	0.049508	0.85682	D	0.000000	T	0.18130	0.0435	L	0.38175	1.15	0.49389	D	0.999789	B;B	0.19445	0.036;0.036	B;B	0.25759	0.046;0.063	T	0.10314	-1.0635	10	0.15499	T	0.54	-23.5367	20.8598	0.99761	0.0:0.0:1.0:0.0	.	282;231	B4DYX8;Q9P0J1	.;PDP1_HUMAN	N	231;231;256;231;231	ENSP00000297598:D231N;ENSP00000428317:D231N;ENSP00000379503:D256N;ENSP00000430380:D231N	ENSP00000297598:D231N	D	+	1	0	PDP1	95004154	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.640000	0.61368	2.937000	0.99478	0.650000	0.86243	GAT	PDP1	-	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	ENSG00000164951		0.413	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PDP1	HGNC	protein_coding	OTTHUMT00000378415.2		0.00	29	0	G	NM_018444		94934978	+1			no_errors	ENST00000396200	ensembl	human	known	74_37	missense	8.33	33	3	SNP	1.000	A
PI4KA	5297	genome.wustl.edu	37	22	21119944	21119944	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr22:21119944G>A	ENST00000572273.1	-	20	2422	c.2192C>T	c.(2191-2193)cCt>cTt	p.P731L	PI4KA_ENST00000466162.1_5'UTR|PI4KA_ENST00000255882.6_Missense_Mutation_p.P789L			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	731					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CTGTAACCGAGGCTTAGCTTC	0.532																																					GBM(136;1332 1831 3115 23601 50806)												0													111.0	103.0	106.0					22																	21119944		2203	4300	6503	SO:0001583	missense	0			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.2192C>T	22.37:g.21119944G>A	ENSP00000458238:p.Pro731Leu		Q7Z625|Q9UPG2	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.P789L	ENST00000572273.1	37	c.2366		22	.	.	.	.	.	.	.	.	.	.	G	36	5.689682	0.96784	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.74846	0.3770	L	0.59436	1.845	0.80722	D	1	D	0.58970	0.984	P	0.59221	0.854	T	0.73839	-0.3856	9	0.51188	T	0.08	-17.2266	20.0693	0.97712	0.0:0.0:1.0:0.0	.	731	P42356	PI4KA_HUMAN	L	731	.	ENSP00000255882:P731L	P	-	2	0	PI4KA	19449944	1.000000	0.71417	0.903000	0.35520	0.998000	0.95712	9.725000	0.98778	2.758000	0.94735	0.563000	0.77884	CCT	PI4KA	-	superfamily_ARM-type_fold	ENSG00000241973		0.532	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		-	0.00	67	0	G	NM_058004		21119944	-1	tier1	-	no_errors	ENST00000255882	ensembl	human	known	74_37	missense	13.51	32	5	SNP	1.000	A
PLAT	5327	genome.wustl.edu	37	8	42038181	42038181	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr8:42038181G>T	ENST00000220809.4	-	10	1168	c.912C>A	c.(910-912)taC>taA	p.Y304*	PLAT_ENST00000524009.1_Nonsense_Mutation_p.Y215*|PLAT_ENST00000352041.3_Nonsense_Mutation_p.Y258*|PLAT_ENST00000519510.1_Nonsense_Mutation_p.Y241*|PLAT_ENST00000270189.6_Intron|PLAT_ENST00000429710.2_Nonsense_Mutation_p.Y178*|PLAT_ENST00000429089.2_Nonsense_Mutation_p.Y304*	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	304					blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	GAGGCTGGCTGTACTGTCTCA	0.632																																																	0													52.0	49.0	50.0					8																	42038181		2203	4300	6503	SO:0001587	stop_gained	0				CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.912C>A	8.37:g.42038181G>T	ENSP00000220809:p.Tyr304*		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Nonsense_Mutation	SNP	pfam_Peptidase_S1,pfam_Kringle,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.Y304*	ENST00000220809.4	37	c.912	CCDS6126.1	8	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478863	0.84747	.	.	ENSG00000104368	ENST00000429089;ENST00000220809;ENST00000352041;ENST00000519510;ENST00000429710;ENST00000524009	.	.	.	5.38	3.45	0.39498	.	0.750313	0.13429	N	0.388609	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.1642	0.25681	0.1437:0.2626:0.5937:0.0	.	.	.	.	X	304;304;258;241;178;215	.	ENSP00000220809:Y304X	Y	-	3	2	PLAT	42157338	0.991000	0.36638	0.989000	0.46669	0.123000	0.20343	1.760000	0.38430	2.671000	0.90904	0.650000	0.86243	TAC	PLAT	-	superfamily_Trypsin-like_Pept_dom	ENSG00000104368		0.632	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAT	HGNC	protein_coding	OTTHUMT00000377100.1		0.00	29	0	G	NM_000930		42038181	-1			no_errors	ENST00000220809	ensembl	human	known	74_37	nonsense	11.76	15	2	SNP	0.002	T
PLEKHG3	26030	genome.wustl.edu	37	14	65210415	65210415	+	Silent	SNP	C	C	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr14:65210415C>T	ENST00000394691.1	+	17	3801	c.3654C>T	c.(3652-3654)gtC>gtT	p.V1218V	PLEKHG3_ENST00000471182.2_Silent_p.V751V|PLEKHG3_ENST00000484731.2_Silent_p.V723V|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000247226.7_Silent_p.V1162V			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1218							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		TGAACTCTGTCGGTTGATGCT	0.612																																																	0													27.0	24.0	25.0					14																	65210415		2187	4262	6449	SO:0001819	synonymous_variant	0			AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.3654C>T	14.37:g.65210415C>T			A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.V1218	ENST00000394691.1	37	c.3654		14																																																																																			PLEKHG3	-	NULL	ENSG00000126822		0.612	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	PLEKHG3	HGNC	protein_coding	OTTHUMT00000412028.1	-	0.00	53	0	C	NM_015549		65210415	+1	tier1	-	no_errors	ENST00000394691	ensembl	human	known	74_37	silent	19.51	33	8	SNP	0.001	T
POGZ	23126	genome.wustl.edu	37	1	151396497	151396497	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:151396497A>G	ENST00000271715.2	-	9	1765	c.1451T>C	c.(1450-1452)cTc>cCc	p.L484P	POGZ_ENST00000540984.1_Intron|POGZ_ENST00000409503.1_Missense_Mutation_p.L475P|POGZ_ENST00000531094.1_Missense_Mutation_p.L422P|POGZ_ENST00000392723.1_Missense_Mutation_p.L431P|POGZ_ENST00000361398.3_Missense_Mutation_p.L431P|POGZ_ENST00000368863.2_Missense_Mutation_p.L389P|POGZ_ENST00000491586.1_Missense_Mutation_p.L431P	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	484					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAAATTTGTGAGCTGGGCTAC	0.458																																																	0													135.0	127.0	130.0					1																	151396497		2203	4300	6503	SO:0001583	missense	0			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.1451T>C	1.37:g.151396497A>G	ENSP00000271715:p.Leu484Pro		B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2	p.L484P	ENST00000271715.2	37	c.1451	CCDS997.1	1	.	.	.	.	.	.	.	.	.	.	A	14.08	2.430163	0.43122	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000491586	T;T;T;T;T;T;T	0.01192	5.75;5.77;5.75;5.71;5.76;5.75;5.2	5.31	5.31	0.75309	.	0.112699	0.40818	N	0.001006	T	0.01695	0.0054	L	0.33339	1.005	0.80722	D	1	B;D;B;D;D;B	0.76494	0.296;0.978;0.42;0.999;0.998;0.141	B;P;B;D;D;B	0.71656	0.041;0.598;0.128;0.974;0.962;0.028	T	0.74850	-0.3524	10	0.35671	T	0.21	-16.6793	14.2352	0.65922	1.0:0.0:0.0:0.0	.	422;475;389;431;431;484	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	P	431;484;431;389;475;422;431	ENSP00000376484:L431P;ENSP00000271715:L484P;ENSP00000354467:L431P;ENSP00000357856:L389P;ENSP00000386836:L475P;ENSP00000431259:L422P;ENSP00000418408:L431P	ENSP00000271715:L484P	L	-	2	0	POGZ	149663121	0.702000	0.27816	1.000000	0.80357	0.997000	0.91878	3.010000	0.49559	2.231000	0.72958	0.460000	0.39030	CTC	POGZ	-	NULL	ENSG00000143442		0.458	POGZ-001	KNOWN	basic|CCDS	protein_coding	POGZ	HGNC	protein_coding	OTTHUMT00000034915.2	-	0.00	76	0	A	NM_207171		151396497	-1	tier1	-	no_errors	ENST00000271715	ensembl	human	known	74_37	missense	23.68	58	18	SNP	0.998	G
PLXNA2	5362	genome.wustl.edu	37	1	208391109	208391109	+	Silent	SNP	C	C	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:208391109C>T	ENST00000367033.3	-	2	916	c.159G>A	c.(157-159)ttG>ttA	p.L53L		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	53	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGTGGACGGTCAAGTGGTTGA	0.607																																																	0													95.0	92.0	93.0					1																	208391109		2203	4300	6503	SO:0001819	synonymous_variant	0			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.159G>A	1.37:g.208391109C>T			A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.L53	ENST00000367033.3	37	c.159	CCDS31013.1	1																																																																																			PLXNA2	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000076356		0.607	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	-	0.00	58	0	C	NM_025179		208391109	-1	tier1	-	no_errors	ENST00000367033	ensembl	human	known	74_37	silent	12.24	42	6	SNP	1.000	T
PRRC1	133619	genome.wustl.edu	37	5	126860507	126860507	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr5:126860507A>G	ENST00000296666.8	+	3	576	c.388A>G	c.(388-390)Ata>Gta	p.I130V	PRRC1_ENST00000512635.2_Missense_Mutation_p.I130V|PRRC1_ENST00000442138.2_Missense_Mutation_p.I130V	NM_130809.3	NP_570721.1	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	130						Golgi apparatus (GO:0005794)				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		GGGTCCTCCTATATCAGGATT	0.502																																																	0													157.0	160.0	159.0					5																	126860507		2203	4300	6503	SO:0001583	missense	0			AJ515429	CCDS4143.1, CCDS68943.1	5q23.2	2008-02-05			ENSG00000164244	ENSG00000164244			28164	protein-coding gene	gene with protein product						15541471	Standard	NM_130809		Approved	FLJ32875	uc003kuk.3	Q96M27	OTTHUMG00000128982	ENST00000296666.8:c.388A>G	5.37:g.126860507A>G	ENSP00000296666:p.Ile130Val		Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3	Missense_Mutation	SNP	pfam_NTPase/PRRC1	p.I130V	ENST00000296666.8	37	c.388	CCDS4143.1	5	.	.	.	.	.	.	.	.	.	.	A	0.851	-0.738594	0.03111	.	.	ENSG00000164244	ENST00000296666;ENST00000442138;ENST00000330542;ENST00000414018;ENST00000512635;ENST00000512535	.	.	.	5.06	5.06	0.68205	.	0.410282	0.29307	N	0.012524	T	0.21468	0.0517	N	0.16478	0.41	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.10450	0.0;0.005	T	0.26087	-1.0113	9	0.06365	T	0.9	-1.5773	7.594	0.28037	0.8385:0.0:0.1615:0.0	.	130;130	Q96M27;Q96M27-5	PRRC1_HUMAN;.	V	130	.	ENSP00000296666:I130V	I	+	1	0	PRRC1	126888406	0.807000	0.29009	0.676000	0.29932	0.972000	0.66771	3.089000	0.50183	2.127000	0.65507	0.533000	0.62120	ATA	PRRC1	-	NULL	ENSG00000164244		0.502	PRRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC1	HGNC	protein_coding	OTTHUMT00000250971.3	-	0.00	97	0	A	NM_130809		126860507	+1	tier1	-	no_errors	ENST00000512635	ensembl	human	known	74_37	missense	10.53	85	10	SNP	0.010	G
PROB1	389333	genome.wustl.edu	37	5	138727840	138727840	+	Silent	SNP	C	C	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr5:138727840C>T	ENST00000434752.2	-	1	3045	c.2931G>A	c.(2929-2931)ggG>ggA	p.G977G	MZB1_ENST00000457570.2_5'Flank|MZB1_ENST00000302125.8_5'Flank|MZB1_ENST00000412103.2_5'Flank	NM_001161546.1	NP_001155018.1	E7EW31	PROB1_HUMAN	proline-rich basic protein 1	977	Pro-rich.																GGTAGTAGGTCCCGTCCAGGG	0.716																																																	0													12.0	19.0	17.0					5																	138727840		691	1589	2280	SO:0001819	synonymous_variant	0			AK316483	CCDS54909.1	5q31.2	2012-10-01	2012-10-01	2012-10-01	ENSG00000228672	ENSG00000228672			41906	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 65"""	C5orf65			Standard	NM_001161546		Approved		uc011czc.1	E7EW31		ENST00000434752.2:c.2931G>A	5.37:g.138727840C>T			B4E007	Silent	SNP	NULL	p.G977	ENST00000434752.2	37	c.2931	CCDS54909.1	5																																																																																			PROB1	-	NULL	ENSG00000228672		0.716	PROB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROB1	HGNC	protein_coding	OTTHUMT00000470735.1		0.00	16	0	C	NM_001161546		138727840	-1			no_errors	ENST00000434752	ensembl	human	known	74_37	silent	50.00	3	3	SNP	0.971	T
PRSS35	167681	genome.wustl.edu	37	6	84234264	84234264	+	Silent	SNP	G	G	T	rs374665215		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr6:84234264G>T	ENST00000369700.3	+	2	1281	c.1104G>T	c.(1102-1104)gcG>gcT	p.A368A	PRSS35_ENST00000536636.1_Silent_p.A368A	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	368	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		AAATCATTGCGGTCTACTCAG	0.517																																																	0													75.0	69.0	71.0					6																	84234264		2203	4300	6503	SO:0001819	synonymous_variant	0			BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.1104G>T	6.37:g.84234264G>T			A8K7B3|Q9BQP6	Silent	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom	p.A368	ENST00000369700.3	37	c.1104	CCDS4999.1	6																																																																																			PRSS35	-	superfamily_Trypsin-like_Pept_dom	ENSG00000146250		0.517	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS35	HGNC	protein_coding	OTTHUMT00000041352.1	-	0.00	33	0	G	NM_153362		84234264	+1	tier1	-	no_errors	ENST00000369700	ensembl	human	known	74_37	silent	18.75	13	3	SNP	0.007	T
PSPN	5623	genome.wustl.edu	37	19	6375764	6375764	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr19:6375764C>T	ENST00000245810.1	-	1	96	c.97G>A	c.(97-99)Gat>Aat	p.D33N	PSPN_ENST00000597721.1_Missense_Mutation_p.D33N	NM_004158.2	NP_004149.1	O60542	PSPN_HUMAN	persephin	33					axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|central nervous system development (GO:0007417)|nervous system development (GO:0007399)	extracellular space (GO:0005615)	receptor binding (GO:0005102)			lung(1)|ovary(1)|skin(1)	3						AACTCTCCATCGGCCACGGGA	0.642																																																	0													53.0	46.0	48.0					19																	6375764		2203	4300	6503	SO:0001583	missense	0			AF040962	CCDS12164.1	19p13.3	2014-01-30				ENSG00000125650		"""Endogenous ligands"""	9579	protein-coding gene	gene with protein product		602921				10072588	Standard	NM_004158		Approved	PSP	uc010xja.2	O60542		ENST00000245810.1:c.97G>A	19.37:g.6375764C>T	ENSP00000245810:p.Asp33Asn			Missense_Mutation	SNP	pfam_TGF-b_C,smart_TGF-b_C	p.D33N	ENST00000245810.1	37	c.97	CCDS12164.1	19	.	.	.	.	.	.	.	.	.	.	C	10.83	1.462048	0.26248	.	.	ENSG00000125650	ENST00000545374;ENST00000245810	D	0.89196	-2.48	3.45	-0.308	0.12773	.	.	.	.	.	T	0.76478	0.3993	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.58918	-0.7551	9	0.19590	T	0.45	-3.8471	5.9047	0.18986	0.0:0.5128:0.3722:0.1151	.	33	O60542	PSPN_HUMAN	N	33	ENSP00000245810:D33N	ENSP00000245810:D33N	D	-	1	0	PSPN	6326764	0.005000	0.15991	0.001000	0.08648	0.099000	0.18886	0.418000	0.21230	-0.060000	0.13132	-0.657000	0.03884	GAT	PSPN	-	NULL	ENSG00000125650		0.642	PSPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSPN	HGNC	protein_coding	OTTHUMT00000398032.1	-	0.00	80	0	C	NM_004158		6375764	-1	tier1	-	no_errors	ENST00000245810	ensembl	human	known	74_37	missense	10.64	42	5	SNP	0.007	T
PTPRM	5797	genome.wustl.edu	37	18	8378361	8378361	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr18:8378361G>A	ENST00000332175.8	+	25	4559	c.3522G>A	c.(3520-3522)atG>atA	p.M1174I	PTPRM_ENST00000580170.1_Missense_Mutation_p.M1187I|PTPRM_ENST00000400053.4_Missense_Mutation_p.M1112I|PTPRM_ENST00000444013.1_Missense_Mutation_p.M961I|PTPRM_ENST00000400060.4_Missense_Mutation_p.M1188I	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1174					homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				ATTATGACATGAACAAACTGG	0.498																																																	0													146.0	119.0	129.0					18																	8378361		2203	4300	6503	SO:0001583	missense	0			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.3522G>A	18.37:g.8378361G>A	ENSP00000331418:p.Met1174Ile		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.M1188I	ENST00000332175.8	37	c.3564	CCDS11840.1	18	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014568	0.75161	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.13089	2.62;2.62;2.62;2.62	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.26484	0.0647	L	0.33485	1.01	0.80722	D	1	B;P;P	0.45126	0.003;0.851;0.851	B;P;P	0.58391	0.007;0.838;0.838	T	0.00254	-1.1874	10	0.33141	T	0.24	.	20.0349	0.97554	0.0:0.0:1.0:0.0	.	961;1187;1174	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	I	1174;1188;1112;961	ENSP00000331418:M1174I;ENSP00000382933:M1188I;ENSP00000382927:M1112I;ENSP00000387608:M961I	ENSP00000331418:M1174I	M	+	3	0	PTPRM	8368361	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.735000	0.93741	0.591000	0.81541	ATG	PTPRM	-	NULL	ENSG00000173482		0.498	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1	-	0.00	64	0	G			8378361	+1	tier1	-	no_errors	ENST00000400060	ensembl	human	known	74_37	missense	8.14	79	7	SNP	1.000	A
PTPRZ1	5803	genome.wustl.edu	37	7	121650691	121650691	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr7:121650691G>T	ENST00000393386.2	+	12	2002	c.1591G>T	c.(1591-1593)Gtg>Ttg	p.V531L	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.V531L	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	531					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACCTCACACTGTGGAAGGTAC	0.403																																																	0													79.0	76.0	77.0					7																	121650691		2203	4300	6503	SO:0001583	missense	0			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1591G>T	7.37:g.121650691G>T	ENSP00000377047:p.Val531Leu		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,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,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.V531L	ENST00000393386.2	37	c.1591	CCDS34740.1	7	.	.	.	.	.	.	.	.	.	.	G	4.623	0.115855	0.08831	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.48522	0.85;0.81	5.57	1.81	0.25067	.	0.339468	0.23922	N	0.043223	T	0.19327	0.0464	N	0.04768	-0.165	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.08027	-1.0742	10	0.31617	T	0.26	.	1.1676	0.01819	0.3016:0.2214:0.3479:0.1291	.	531;531	C9JFM0;P23471	.;PTPRZ_HUMAN	L	531	ENSP00000377047:V531L;ENSP00000410000:V531L	ENSP00000377047:V531L	V	+	1	0	PTPRZ1	121437927	0.647000	0.27304	0.199000	0.23439	0.056000	0.15407	0.692000	0.25482	0.332000	0.23536	-0.768000	0.03414	GTG	PTPRZ1	-	NULL	ENSG00000106278		0.403	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	HGNC	protein_coding	OTTHUMT00000347288.1	-	0.00	67	0	G	NM_002851		121650691	+1	tier1	-	no_errors	ENST00000393386	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.026	T
RAP2C	57826	genome.wustl.edu	37	X	131348451	131348451	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chrX:131348451T>A	ENST00000342983.2	-	3	1043	c.297A>T	c.(295-297)caA>caT	p.Q99H	RAP2C_ENST00000460462.1_5'UTR|RAP2C_ENST00000370874.1_Missense_Mutation_p.Q99H|RAP2C-AS1_ENST00000421483.2_RNA	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	99					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					CTCTGACAATTTGATCTCTCA	0.348																																																	0													70.0	56.0	61.0					X																	131348451		2203	4300	6503	SO:0001583	missense	0			BC051467	CCDS14632.1, CCDS76024.1	Xq25	2014-05-09			ENSG00000123728	ENSG00000123728			21165	protein-coding gene	gene with protein product							Standard	NM_001271186		Approved	DKFZp313B211	uc004ewp.4	Q9Y3L5	OTTHUMG00000022424	ENST00000342983.2:c.297A>T	X.37:g.131348451T>A	ENSP00000340274:p.Gln99His		B3KWD6|Q5H9H9|Q9BTS0	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Q99H	ENST00000342983.2	37	c.297	CCDS14632.1	X	.	.	.	.	.	.	.	.	.	.	T	16.96	3.265141	0.59431	.	.	ENSG00000123728	ENST00000342983;ENST00000370874	T;T	0.78003	-1.14;-1.14	5.44	2.69	0.31865	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.82033	0.4949	L	0.60845	1.875	0.43099	D	0.994786	D	0.69078	0.997	D	0.66602	0.945	T	0.80299	-0.1441	10	0.62326	D	0.03	.	7.6998	0.28617	0.0:0.5751:0.0:0.4249	.	99	Q9Y3L5	RAP2C_HUMAN	H	99	ENSP00000340274:Q99H;ENSP00000359911:Q99H	ENSP00000340274:Q99H	Q	-	3	2	RAP2C	131176132	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.892000	0.39748	0.474000	0.27392	-0.287000	0.09952	CAA	RAP2C	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom	ENSG00000123728		0.348	RAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAP2C	HGNC	protein_coding	OTTHUMT00000058312.1	-	0.00	34	0	T	NM_021183		131348451	-1	tier1	-	no_errors	ENST00000342983	ensembl	human	known	74_37	missense	34.21	25	13	SNP	1.000	A
RCC2	55920	genome.wustl.edu	37	1	17747270	17747270	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:17747270T>C	ENST00000375436.4	-	7	986	c.799A>G	c.(799-801)Atg>Gtg	p.M267V	RCC2_ENST00000375433.3_Missense_Mutation_p.M267V	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	267					chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)			breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		TCCATTATCATACTGAATTCA	0.388																																																	0													71.0	70.0	71.0					1																	17747270		2203	4300	6503	SO:0001583	missense	0				CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.799A>G	1.37:g.17747270T>C	ENSP00000364585:p.Met267Val		Q8IVL9|Q9BSN6|Q9NPV8	Missense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,prints_Reg_chr_condens,pfscan_Reg_chr_condens	p.M267V	ENST00000375436.4	37	c.799	CCDS181.1	1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.831690	0.50845	.	.	ENSG00000179051	ENST00000375436;ENST00000375433	D;D	0.83250	-1.7;-1.7	5.45	5.45	0.79879	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.83087	0.5178	N	0.20530	0.585	0.58432	D	0.999999	P	0.50156	0.932	D	0.67103	0.949	T	0.79990	-0.1570	10	0.18710	T	0.47	-44.4504	14.6288	0.68640	0.0:0.0:0.0:1.0	.	267	Q9P258	RCC2_HUMAN	V	267	ENSP00000364585:M267V;ENSP00000364582:M267V	ENSP00000364582:M267V	M	-	1	0	RCC2	17619857	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.937000	0.87672	2.196000	0.70406	0.533000	0.62120	ATG	RCC2	-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens	ENSG00000179051		0.388	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCC2	HGNC	protein_coding	OTTHUMT00000007144.1	-	0.00	29	0	T	NM_018715		17747270	-1	tier1	-	no_errors	ENST00000375433	ensembl	human	known	74_37	missense	12.82	34	5	SNP	1.000	C
RBBP5	5929	genome.wustl.edu	37	1	205068124	205068124	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:205068124C>A	ENST00000264515.6	-	10	1230	c.1089G>T	c.(1087-1089)gaG>gaT	p.E363D	RBBP5_ENST00000367164.1_Missense_Mutation_p.E363D	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	363					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TACCTGTCTGCTCAGGCTCAC	0.343																																																	0													209.0	197.0	201.0					1																	205068124		2203	4300	6503	SO:0001583	missense	0			BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"""WD repeat domain containing"""	9888	protein-coding gene	gene with protein product	"""SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"""	600697	"""retinoblastoma-binding protein 5"""			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.1089G>T	1.37:g.205068124C>A	ENSP00000264515:p.Glu363Asp		A8K272|Q7Z6D8|Q8NDZ7	Missense_Mutation	SNP	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E363D	ENST00000264515.6	37	c.1089	CCDS30983.1	1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.976771	0.34848	.	.	ENSG00000117222	ENST00000264515;ENST00000367164	T;T	0.60672	0.17;0.19	5.42	1.77	0.24775	.	0.100220	0.64402	D	0.000002	T	0.44371	0.1290	L	0.52126	1.63	0.52501	D	0.999959	B;B;B;B	0.17667	0.009;0.023;0.007;0.012	B;B;B;B	0.16289	0.009;0.012;0.015;0.004	T	0.18713	-1.0328	10	0.18276	T	0.48	.	7.4655	0.27320	0.0:0.4726:0.0:0.5274	.	236;398;363;363	B4DLF8;B4DMM7;Q15291-2;Q15291	.;.;.;RBBP5_HUMAN	D	363	ENSP00000264515:E363D;ENSP00000356132:E363D	ENSP00000264515:E363D	E	-	3	2	RBBP5	203334747	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	0.569000	0.23638	0.510000	0.28216	0.650000	0.86243	GAG	RBBP5	-	NULL	ENSG00000117222		0.343	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP5	HGNC	protein_coding	OTTHUMT00000090077.1	-	0.00	58	0	C	NM_005057		205068124	-1	tier1	-	no_errors	ENST00000264515	ensembl	human	known	74_37	missense	20.45	35	9	SNP	1.000	A
RELN	5649	genome.wustl.edu	37	7	103151393	103151393	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr7:103151393C>T	ENST00000428762.1	-	51	8338	c.8179G>A	c.(8179-8181)Gat>Aat	p.D2727N	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.D2727N|RELN_ENST00000343529.5_Missense_Mutation_p.D2727N	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2727					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATCACACCATCAGGGGAGTCA	0.423																																					NSCLC(146;835 1944 15585 22231 52158)												0													123.0	101.0	108.0					7																	103151393		2203	4300	6503	SO:0001583	missense	0				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8179G>A	7.37:g.103151393C>T	ENSP00000392423:p.Asp2727Asn		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.D2727N	ENST00000428762.1	37	c.8179	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275172	0.80580	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.27402	1.67;1.67;1.67	5.65	5.65	0.86999	Neuraminidase (2);	0.000000	0.85682	D	0.000000	T	0.48370	0.1496	L	0.42245	1.32	0.80722	D	1	P;D	0.71674	0.924;0.998	P;D	0.79784	0.646;0.993	T	0.14117	-1.0484	10	0.19590	T	0.45	.	19.7228	0.96150	0.0:1.0:0.0:0.0	.	2727;2727	P78509-2;P78509	.;RELN_HUMAN	N	2727;2727;2727;244;2727	ENSP00000392423:D2727N;ENSP00000345694:D2727N;ENSP00000388446:D2727N	ENSP00000345694:D2727N	D	-	1	0	RELN	102938629	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	7.461000	0.80834	2.660000	0.90430	0.643000	0.83706	GAT	RELN	-	superfamily_Sialidases	ENSG00000189056		0.423	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	-	0.00	64	0	C	NM_005045		103151393	-1	tier1	-	no_errors	ENST00000424685	ensembl	human	known	74_37	missense	8.70	63	6	SNP	1.000	T
TMEM50A	23585	genome.wustl.edu	37	1	25689023	25689023	+	IGR	SNP	A	A	G			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:25689023A>G	ENST00000374358.4	+	0	2683				RHCE_ENST00000374352.2_Missense_Mutation_p.F401L|RHCE_ENST00000349438.4_3'UTR|RHCE_ENST00000349320.3_Missense_Mutation_p.F401L|RHCE_ENST00000243186.6_3'UTR|RHCE_ENST00000413854.1_Silent_p.D365D|RHCE_ENST00000294413.7_Missense_Mutation_p.F417L|RHCE_ENST00000455194.1_Missense_Mutation_p.F312L|RHCE_ENST00000340849.4_3'UTR|RHCE_ENST00000425135.1_3'UTR|RHCE_ENST00000346452.4_Missense_Mutation_p.F266L	NM_014313.3	NP_055128.1	O95807	TM50A_HUMAN	transmembrane protein 50A							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		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;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		TTTGCTTAAAATCCAACAGCC	0.388																																																	0													60.0	55.0	57.0					1																	25689023		2202	4280	6482	SO:0001628	intergenic_variant	0			AY071927	CCDS264.1	1p36.11	2008-02-05			ENSG00000183726	ENSG00000183726			30590	protein-coding gene	gene with protein product	"""small membrane protein 1"""	605348				10938938, 10845894	Standard	NM_014313		Approved	SMP1	uc001bke.3	O95807	OTTHUMG00000007651		1.37:g.25689023A>G				Missense_Mutation	SNP	pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD	p.F417L	ENST00000374358.4	37	c.1249	CCDS264.1	1	.	.	.	.	.	.	.	.	.	.	.	15.56	2.870944	0.51695	.	.	ENSG00000188672	ENST00000539650;ENST00000455194;ENST00000374352;ENST00000349320;ENST00000346452;ENST00000294413	T;T;T;T;T	0.22743	1.94;2.06;2.06;2.33;2.26	5.51	3.2	0.36748	.	0.627020	0.16009	N	0.233907	T	0.41511	0.1162	M	0.73962	2.25	0.80722	D	1	D;B;D	0.57571	0.98;0.104;0.98	P;B;D	0.68483	0.847;0.056;0.958	T	0.13229	-1.0517	10	0.87932	D	0	.	6.9836	0.24715	0.7402:0.0:0.2598:0.0	.	401;266;417	Q5VSJ9;E7EQ47;P18577	.;.;RHCE_HUMAN	L	346;312;401;401;266;417	ENSP00000416275:F312L;ENSP00000363472:F401L;ENSP00000311185:F401L;ENSP00000344485:F266L;ENSP00000294413:F417L	ENSP00000294413:F417L	F	-	1	0	RHCE	25561610	1.000000	0.71417	0.983000	0.44433	0.938000	0.57974	2.678000	0.46900	0.392000	0.25172	-0.263000	0.10527	TTT	RHCE	-	NULL	ENSG00000188672		0.388	TMEM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHCE	HGNC	protein_coding	OTTHUMT00000020313.1	-	0.00	57	0	A			25689023	-1	tier1	-	no_errors	ENST00000294413	ensembl	human	known	74_37	missense	11.54	46	6	SNP	0.995	G
RND2	8153	genome.wustl.edu	37	17	41180632	41180632	+	Missense_Mutation	SNP	C	C	T	rs368469044		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr17:41180632C>T	ENST00000587250.2	+	5	726	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W	CTD-3199J23.4_ENST00000225973.5_lincRNA|RND2_ENST00000544533.1_Missense_Mutation_p.R208W			P52198	RND2_HUMAN	Rho family GTPase 2	207					GTP catabolic process (GO:0006184)|positive regulation of collateral sprouting (GO:0048672)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|skin(1)	2		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GCTGTCAGGACGGCCAGACCG	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		19093	0.001		0.0	False		,,,				2504	0.0																0								C	TRP/ARG	0,4406		0,0,2203	48.0	42.0	44.0		619	3.0	1.0	17		44	1,8599	1.2+/-3.3	0,1,4299	no	missense	RND2	NM_005440.4	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	207/228	41180632	1,13005	2203	4300	6503	SO:0001583	missense	0			X95456	CCDS11452.1	17q21.31	2012-10-02	2005-01-24	2005-01-24	ENSG00000108830	ENSG00000108830			18315	protein-coding gene	gene with protein product		601555	"""ras homolog gene family, member N"""	ARHN			Standard	XM_005257706		Approved	Rho7, RhoN	uc002icn.3	P52198	OTTHUMG00000180817	ENST00000587250.2:c.619C>T	17.37:g.41180632C>T	ENSP00000466680:p.Arg207Trp		A8K2D4|O00690|O00734|Q5U0P6|Q99535	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R208W	ENST00000587250.2	37	c.622	CCDS11452.1	17	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498084	0.85069	0.0	1.16E-4	ENSG00000108830	ENST00000544533;ENST00000225973	T	0.69175	-0.38	5.17	3.03	0.35002	.	0.509100	0.20230	N	0.096510	T	0.72684	0.3491	L	0.46157	1.445	0.49582	D	0.999803	D	0.76494	0.999	P	0.59288	0.855	T	0.76979	-0.2758	10	0.87932	D	0	.	14.6995	0.69147	0.3094:0.6906:0.0:0.0	.	207	P52198	RND2_HUMAN	W	208;207	ENSP00000439328:R208W	ENSP00000225973:R207W	R	+	1	2	RND2	38434158	0.963000	0.33076	0.996000	0.52242	0.993000	0.82548	1.487000	0.35540	1.391000	0.46566	0.655000	0.94253	CGG	RND2	-	NULL	ENSG00000108830		0.622	RND2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RND2	HGNC	protein_coding	OTTHUMT00000453111.2		0.00	68	0	C	NM_005440		41180632	+1			no_errors	ENST00000544533	ensembl	human	known	74_37	missense	5.45	52	3	SNP	0.984	T
RNF148	378925	genome.wustl.edu	37	7	122342397	122342397	+	Silent	SNP	G	G	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr7:122342397G>T	ENST00000434824.1	-	1	624	c.408C>A	c.(406-408)ggC>ggA	p.G136G	RNF148_ENST00000447240.1_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	136	PA.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						ATACTTTACTGCCCGTACCTT	0.458																																																	0													280.0	272.0	274.0					7																	122342397		1993	4173	6166	SO:0001819	synonymous_variant	0			BC029264	CCDS47692.1	7q31.33	2013-01-09			ENSG00000235631	ENSG00000235631		"""RING-type (C3HC4) zinc fingers"""	22411	protein-coding gene	gene with protein product						8744354	Standard	NM_198085		Approved	MGC35222	uc003vkk.1	Q8N7C7	OTTHUMG00000157099	ENST00000434824.1:c.408C>A	7.37:g.122342397G>T			A4D0X4|Q8N308	Silent	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.G136	ENST00000434824.1	37	c.408	CCDS47692.1	7																																																																																			RNF148	-	pfam_Protease-assoc_domain	ENSG00000235631		0.458	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF148	HGNC	protein_coding	OTTHUMT00000347424.1	-	0.00	99	0	G	NM_198085		122342397	-1	tier1	-	no_errors	ENST00000434824	ensembl	human	known	74_37	silent	6.78	55	4	SNP	1.000	T
RNF43	54894	genome.wustl.edu	37	17	56438273	56438273	+	Silent	SNP	G	G	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr17:56438273G>A	ENST00000584437.1	-	6	2675	c.720C>T	c.(718-720)atC>atT	p.I240I	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000583753.1_Silent_p.I199I|RNF43_ENST00000577716.1_Silent_p.I240I|RNF43_ENST00000407977.2_Silent_p.I240I|RNF43_ENST00000500597.2_Silent_p.I199I|RNF43_ENST00000577625.1_Silent_p.I113I|RNF43_ENST00000581868.1_Silent_p.I113I			Q68DV7	RNF43_HUMAN	ring finger protein 43	240					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCAGCTGGCTGATGGCCCAGG	0.652																																																	0													35.0	36.0	36.0					17																	56438273		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.720C>T	17.37:g.56438273G>A			A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Silent	SNP	pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING	p.I240	ENST00000584437.1	37	c.720	CCDS11607.1	17																																																																																			RNF43	-	NULL	ENSG00000108375		0.652	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF43	HGNC	protein_coding	OTTHUMT00000444713.1	-	0.00	40	0	G	NM_017763		56438273	-1	tier1	-	no_errors	ENST00000407977	ensembl	human	known	74_37	silent	17.31	43	9	SNP	1.000	A
RNPC3	55599	genome.wustl.edu	37	1	104093612	104093612	+	Missense_Mutation	SNP	A	A	C	rs368201291		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:104093612A>C	ENST00000533099.1	+	14	1647	c.1411A>C	c.(1411-1413)Att>Ctt	p.I471L	RNPC3_ENST00000423855.2_Missense_Mutation_p.I471L|RNPC3_ENST00000524631.1_Missense_Mutation_p.I470L			Q96LT9	RBM40_HUMAN	RNA-binding region (RNP1, RRM) containing 3	471	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Lung(183;0.111)|Epithelial(280;0.122)|all cancers(265;0.125)|Colorectal(144;0.163)		ACAAGCTTTCATTGGACTTCC	0.358																																																	0													79.0	76.0	77.0					1																	104093612		1836	4085	5921	SO:0001583	missense	0			AB058742, AY099329	CCDS781.1	1p21.1	2013-07-16			ENSG00000185946	ENSG00000185946		"""RNA binding motif (RRM) containing"""	18666	protein-coding gene	gene with protein product	"""U11/U12 snRNP 65K"""					14974681, 15146077	Standard	NM_017619		Approved	KIAA1839, FLJ20008, RBM40, SNRNP65	uc010oun.2	Q96LT9	OTTHUMG00000166613	ENST00000533099.1:c.1411A>C	1.37:g.104093612A>C	ENSP00000432886:p.Ile471Leu		A8K1C9|D3DT74|Q5TZ87|Q96FK7|Q96JI8|Q9NSU7|Q9NXX2	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.I471L	ENST00000533099.1	37	c.1411	CCDS781.1	1	.	.	.	.	.	.	.	.	.	.	A	12.70	2.015282	0.35511	.	.	ENSG00000185946	ENST00000524631;ENST00000533099;ENST00000423855	T;T;T	0.19394	2.15;2.15;2.15	5.16	1.56	0.23342	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.	.	.	.	T	0.10165	0.0249	L	0.56396	1.775	0.40304	D	0.978646	B;B	0.17268	0.021;0.011	B;B	0.28465	0.09;0.063	T	0.05305	-1.0893	9	0.44086	T	0.13	-6.3692	8.8727	0.35325	0.7793:0.0:0.2207:0.0	.	470;471	A8K1C9;Q96LT9	.;RBM40_HUMAN	L	470;471;471	ENSP00000437278:I470L;ENSP00000432886:I471L;ENSP00000391432:I471L	ENSP00000391432:I471L	I	+	1	0	RNPC3	103895135	0.955000	0.32602	0.997000	0.53966	0.979000	0.70002	1.057000	0.30492	0.065000	0.16485	-0.264000	0.10439	ATT	RNPC3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000185946		0.358	RNPC3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RNPC3	HGNC	protein_coding	OTTHUMT00000390812.1	-	0.00	40	0	A	NM_017619		104093612	+1	tier1	-	no_errors	ENST00000423855	ensembl	human	known	74_37	missense	24.00	19	6	SNP	0.999	C
RP1L1	94137	genome.wustl.edu	37	8	10469643	10469643	+	Silent	SNP	G	G	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr8:10469643G>T	ENST00000382483.3	-	4	2188	c.1965C>A	c.(1963-1965)ggC>ggA	p.G655G		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	655					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCGGCCAAGGCCAGGGCTGC	0.632																																																	0													53.0	63.0	59.0					8																	10469643		2116	4234	6350	SO:0001819	synonymous_variant	0			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.1965C>A	8.37:g.10469643G>T			Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.G655	ENST00000382483.3	37	c.1965	CCDS43708.1	8																																																																																			RP1L1	-	NULL	ENSG00000183638		0.632	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	-	0.00	38	0	G			10469643	-1	tier1	-	no_errors	ENST00000382483	ensembl	human	known	74_37	silent	18.18	18	4	SNP	0.000	T
RP2	6102	genome.wustl.edu	37	X	46696586	46696586	+	Silent	SNP	C	C	A	rs370530958		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chrX:46696586C>A	ENST00000218340.3	+	1	212	c.51C>A	c.(49-51)ccC>ccA	p.P17P		NM_006915.2	NP_008846.2	O75695	XRP2_HUMAN	retinitis pigmentosa 2 (X-linked recessive)	17					cell morphogenesis (GO:0000902)|CTP biosynthetic process (GO:0006241)|cytoskeleton organization (GO:0007010)|GTP biosynthetic process (GO:0006183)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein transport (GO:0015031)|UTP biosynthetic process (GO:0006228)|visual perception (GO:0007601)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|periciliary membrane compartment (GO:1990075)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|nucleoside diphosphate kinase activity (GO:0004550)|unfolded protein binding (GO:0051082)			NS(1)|large_intestine(4)|lung(5)|stomach(1)	11						AGTCGCGGCCCGAGAACGAGG	0.632																																																	0													54.0	35.0	42.0					X																	46696586		2162	4156	6318	SO:0001819	synonymous_variant	0			AJ007590	CCDS14270.1	Xp11.3	2013-01-08			ENSG00000102218	ENSG00000102218			10274	protein-coding gene	gene with protein product		300757				6325945, 9697692, 19852809	Standard	NM_006915		Approved	TBCCD2, NME10, NM23-H10	uc004dgw.4	O75695	OTTHUMG00000021430	ENST00000218340.3:c.51C>A	X.37:g.46696586C>A			Q86XJ7|Q9NU67	Silent	SNP	pfam_Tubulin-bd_cofactor_C_dom,superfamily_Nucleoside_diP_kinase,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif,pirsf_Protein_XRP2	p.P17	ENST00000218340.3	37	c.51	CCDS14270.1	X																																																																																			RP2	-	pirsf_Protein_XRP2	ENSG00000102218		0.632	RP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP2	HGNC	protein_coding	OTTHUMT00000056375.1	-	0.00	46	0	C	NM_006915		46696586	+1	tier1	-	no_errors	ENST00000218340	ensembl	human	known	74_37	silent	10.53	51	6	SNP	0.853	A
RRAGB	10325	genome.wustl.edu	37	X	55748670	55748670	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chrX:55748670A>T	ENST00000262850.7	+	3	621	c.178A>T	c.(178-180)Atc>Ttc	p.I60F	RRAGB_ENST00000374941.4_Missense_Mutation_p.I60F	NM_016656.3	NP_057740.2			Ras-related GTP binding B											breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						GAGGTCTATTATCTTTGCAAA	0.383																																																	0													142.0	118.0	126.0					X																	55748670		2203	4300	6503	SO:0001583	missense	0			X90530	CCDS14371.1, CCDS14372.1	Xp11.21	2008-02-05			ENSG00000083750	ENSG00000083750			19901	protein-coding gene	gene with protein product		300725				7499430, 9394008	Standard	NM_006064		Approved		uc004dup.3	Q5VZM2	OTTHUMG00000021662	ENST00000262850.7:c.178A>T	X.37:g.55748670A>T	ENSP00000262850:p.Ile60Phe			Missense_Mutation	SNP	pfam_Gtr1_RagA,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase	p.I60F	ENST00000262850.7	37	c.178	CCDS14372.1	X	.	.	.	.	.	.	.	.	.	.	A	24.1	4.499025	0.85069	.	.	ENSG00000083750	ENST00000374941;ENST00000414239;ENST00000262850	T;T	0.70045	-0.45;-0.32	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.75715	0.3887	L	0.50919	1.6	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.77557	0.99;0.984	T	0.78013	-0.2370	10	0.87932	D	0	-10.9	11.5986	0.50988	1.0:0.0:0.0:0.0	.	60;60	Q5VZM2-2;Q5VZM2	.;RRAGB_HUMAN	F	60;22;60	ENSP00000364077:I60F;ENSP00000410630:I22F	ENSP00000262850:I60F	I	+	1	0	RRAGB	55765395	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.330000	0.90019	1.816000	0.52996	0.430000	0.28490	ATC	RRAGB	-	pfam_Gtr1_RagA,superfamily_P-loop_NTPase	ENSG00000083750		0.383	RRAGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRAGB	HGNC	protein_coding	OTTHUMT00000056878.1	-	0.00	33	0	A	NM_016656		55748670	+1	tier1	-	no_errors	ENST00000262850	ensembl	human	known	74_37	missense	19.05	34	8	SNP	1.000	T
RRP15	51018	genome.wustl.edu	37	1	218480940	218480940	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:218480940C>T	ENST00000366932.3	+	4	701	c.671C>T	c.(670-672)aCt>aTt	p.T224I		NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	224						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)		ACAAATGAGACTGCTTCAAGC	0.383																																																	0													102.0	99.0	100.0					1																	218480940		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.671C>T	1.37:g.218480940C>T	ENSP00000355899:p.Thr224Ile			Missense_Mutation	SNP	pfam_DUF1665	p.T224I	ENST00000366932.3	37	c.671	CCDS1520.2	1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241893	0.39598	.	.	ENSG00000067533	ENST00000366932	T	0.23147	1.92	5.63	2.1	0.27182	.	0.829043	0.11238	N	0.584973	T	0.12008	0.0292	N	0.08118	0	0.09310	N	1	B	0.33238	0.403	B	0.30495	0.116	T	0.21415	-1.0246	10	0.40728	T	0.16	.	6.997	0.24789	0.7099:0.1425:0.1476:0.0	.	224	Q9Y3B9	RRP15_HUMAN	I	224	ENSP00000355899:T224I	ENSP00000355899:T224I	T	+	2	0	RRP15	216547563	0.182000	0.23173	0.205000	0.23548	0.511000	0.34104	3.085000	0.50151	0.547000	0.28938	0.655000	0.94253	ACT	RRP15	-	NULL	ENSG00000067533		0.383	RRP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP15	HGNC	protein_coding	OTTHUMT00000095284.1	-	0.00	70	0	C	NM_016052		218480940	+1	tier1	-	no_errors	ENST00000366932	ensembl	human	known	74_37	missense	43.94	37	29	SNP	0.003	T
RTN4RL1	146760	genome.wustl.edu	37	17	1840731	1840731	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr17:1840731C>T	ENST00000331238.6	-	2	864	c.385G>A	c.(385-387)Gcc>Acc	p.A129T		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						AGGTAGAGGGCGTGAAGCTTC	0.652																																					GBM(68;949 1139 14865 32798 38342)												0													49.0	55.0	53.0					17																	1840731		2197	4291	6488	SO:0001583	missense	0			AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"""nogo-66 receptor homolog 2"""	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.385G>A	17.37:g.1840731C>T	ENSP00000330631:p.Ala129Thr			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.A129T	ENST00000331238.6	37	c.385	CCDS45569.1	17	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627940	0.46944	.	.	ENSG00000185924	ENST00000331238	T	0.57107	0.42	5.72	5.72	0.89469	.	0.000000	0.39020	N	0.001482	T	0.28995	0.0720	N	0.00517	-1.405	0.58432	D	0.999999	B	0.33739	0.422	B	0.41691	0.364	T	0.44221	-0.9342	10	0.12430	T	0.62	.	19.9443	0.97176	0.0:1.0:0.0:0.0	.	129	Q86UN2	R4RL1_HUMAN	T	129	ENSP00000330631:A129T	ENSP00000330631:A129T	A	-	1	0	RTN4RL1	1787481	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	5.920000	0.70017	2.717000	0.92951	0.644000	0.83932	GCC	RTN4RL1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000185924		0.652	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTN4RL1	HGNC	protein_coding	OTTHUMT00000450155.2	-	0.00	42	0	C	NM_178568		1840731	-1	tier1	-	no_errors	ENST00000331238	ensembl	human	known	74_37	missense	14.29	24	4	SNP	1.000	T
SAPCD1	401251	genome.wustl.edu	37	6	31731219	31731219	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr6:31731219G>A	ENST00000425424.1	+	2	201	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	MSH5_ENST00000534153.4_3'UTR|SAPCD1_ENST00000415669.2_Missense_Mutation_p.E48K|MSH5-SAPCD1_ENST00000493662.2_3'UTR|VWA7_ENST00000467576.1_5'Flank|SAPCD1-AS1_ENST00000419679.1_RNA			Q5SSQ6	SAPC1_HUMAN	suppressor APC domain containing 1	48																	TCTGGAGAGAGAACAGGATGC	0.592																																																	0													78.0	78.0	78.0					6																	31731219		1510	2708	4218	SO:0001583	missense	0				CCDS34411.1	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000228727	ENSG00000228727			13938	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 26"""	C6orf26			Standard	NM_001039651		Approved	NG23		Q5SSQ6	OTTHUMG00000031131	ENST00000425424.1:c.142G>A	6.37:g.31731219G>A	ENSP00000413372:p.Glu48Lys		A2ABF2|A2ABS9|Q9Y335	Missense_Mutation	SNP	pfam_APC_dom	p.E48K	ENST00000425424.1	37	c.142		6	.	.	.	.	.	.	.	.	.	.	G	13.41	2.227790	0.39399	.	.	ENSG00000228727	ENST00000433778;ENST00000415669;ENST00000425424	D;D	0.86627	-2.15;-2.15	4.56	-0.862	0.10673	.	.	.	.	.	T	0.67757	0.2927	.	.	.	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.62282	-0.6887	8	0.87932	D	0	-2.8253	10.0266	0.42074	0.0903:0.6179:0.2918:0.0	.	48	Q5SSQ6-2	.	K	48	ENSP00000411948:E48K;ENSP00000413372:E48K	ENSP00000411948:E48K	E	+	1	0	C6orf26	31839198	0.998000	0.40836	0.082000	0.20525	0.995000	0.86356	1.369000	0.34227	-0.287000	0.09064	-0.175000	0.13238	GAA	SAPCD1	-	pfam_APC_dom	ENSG00000228727		0.592	SAPCD1-203	KNOWN	basic	protein_coding	SAPCD1	HGNC	protein_coding		-	0.00	68	0	G	NM_001039651		31731219	+1	tier1	-	no_errors	ENST00000415669	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.230	A
SCAPER	49855	genome.wustl.edu	37	15	76673829	76673829	+	Missense_Mutation	SNP	G	G	T	rs571029771		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr15:76673829G>T	ENST00000563290.1	-	28	3690	c.3595C>A	c.(3595-3597)Ccc>Acc	p.P1199T	SCAPER_ENST00000538941.2_Missense_Mutation_p.P953T|SCAPER_ENST00000324767.7_Missense_Mutation_p.P1199T			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	1199						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						GCAGTGCTGGGGTCCAAGATG	0.517																																																	0													88.0	88.0	88.0					15																	76673829		1962	4146	6108	SO:0001583	missense	0			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.3595C>A	15.37:g.76673829G>T	ENSP00000454973:p.Pro1199Thr		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	smart_Znf_U1	p.P1199T	ENST00000563290.1	37	c.3595	CCDS53962.1	15	.	.	.	.	.	.	.	.	.	.	G	11.19	1.565189	0.27915	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.25414	1.83;1.8	5.61	2.66	0.31614	.	0.410756	0.27284	N	0.020066	T	0.24275	0.0588	L	0.60455	1.87	0.30767	N	0.743479	B;B	0.25312	0.075;0.123	B;B	0.26969	0.034;0.075	T	0.17410	-1.0370	10	0.54805	T	0.06	.	8.2682	0.31827	0.1429:0.1347:0.7225:0.0	.	1198;953	Q9BY12;F5H7X8	SCAPE_HUMAN;.	T	1199;953;1221	ENSP00000326924:P1199T;ENSP00000442190:P953T	ENSP00000303560:P1221T	P	-	1	0	SCAPER	74460884	1.000000	0.71417	0.940000	0.37924	0.577000	0.36160	1.498000	0.35660	0.692000	0.31613	0.650000	0.86243	CCC	SCAPER	-	NULL	ENSG00000140386		0.517	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAPER	HGNC	protein_coding	OTTHUMT00000419698.1	-	0.00	51	0	G	NM_020843		76673829	-1	tier1	-	no_errors	ENST00000324767	ensembl	human	known	74_37	missense	13.79	25	4	SNP	0.998	T
SEC24C	9632	genome.wustl.edu	37	10	75525889	75525889	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr10:75525889G>T	ENST00000339365.2	+	12	1690	c.1528G>T	c.(1528-1530)Gtc>Ttc	p.V510F	SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.V510F|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Missense_Mutation_p.V391F|SEC24C_ENST00000540668.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	510					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CATGATTGACGTCTCCTACAA	0.488																																																	0													142.0	143.0	142.0					10																	75525889		2203	4300	6503	SO:0001583	missense	0			D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.1528G>T	10.37:g.75525889G>T	ENSP00000343405:p.Val510Phe		B4DZT4|Q8WV25	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.V510F	ENST00000339365.2	37	c.1528	CCDS7332.1	10	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545610	0.86022	.	.	ENSG00000176986	ENST00000345254;ENST00000339365;ENST00000411652	T;T;T	0.80824	-1.42;-1.42;-1.42	5.73	5.73	0.89815	Sec23/Sec24, trunk domain (1);	0.000000	0.85682	D	0.000000	D	0.93331	0.7874	H	0.95679	3.705	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.94655	0.7843	10	0.87932	D	0	-16.2749	19.8926	0.96935	0.0:0.0:1.0:0.0	.	391;510;510	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	F	510;510;391	ENSP00000321845:V510F;ENSP00000343405:V510F;ENSP00000402913:V391F	ENSP00000343405:V510F	V	+	1	0	SEC24C	75195895	1.000000	0.71417	0.963000	0.40424	0.953000	0.61014	9.869000	0.99810	2.709000	0.92574	0.563000	0.77884	GTC	SEC24C	-	pfam_Sec23/24_trunk_dom	ENSG00000176986		0.488	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24C	HGNC	protein_coding	OTTHUMT00000048679.1	-	0.00	78	0	G			75525889	+1	tier1	-	no_errors	ENST00000339365	ensembl	human	known	74_37	missense	7.00	93	7	SNP	1.000	T
SELE	6401	genome.wustl.edu	37	1	169696946	169696946	+	Missense_Mutation	SNP	G	G	T	rs5368	byFrequency	TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:169696946G>T	ENST00000333360.7	-	9	1541	c.1402C>A	c.(1402-1404)Cat>Aat	p.H468N	SELE_ENST00000367779.4_Intron|SELE_ENST00000367782.4_Intron|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.H343N|SELE_ENST00000367775.1_Missense_Mutation_p.H343N|SELE_ENST00000367776.1_Missense_Mutation_p.H405N|SELE_ENST00000367781.4_Missense_Mutation_p.H405N|SELE_ENST00000367774.1_Intron|SELE_ENST00000367777.1_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	468	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.		H -> Y (in dbSNP:rs5368). {ECO:0000269|PubMed:10391210, ECO:0000269|Ref.4}.		actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)	p.H468Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	GTTGATCCATGTAATTCAAAT	0.488																																																	1	Substitution - Missense(1)	stomach(1)	GRCh37	CM025889	SELE	M	rs5368						130.0	124.0	126.0					1																	169696946		2203	4300	6503	SO:0001583	missense	0			M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.1402C>A	1.37:g.169696946G>T	ENSP00000331736:p.His468Asn		A2RRD6|P16111	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_C-type_lectin,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	p.H468N	ENST00000333360.7	37	c.1402	CCDS1283.1	1	.	.	.	.	.	.	.	.	.	.	G	6.551	0.469987	0.12461	.	.	ENSG00000007908	ENST00000367781;ENST00000367780;ENST00000333360;ENST00000367775;ENST00000367776	T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;-0.0	5.67	5.67	0.87782	Complement control module (2);Sushi/SCR/CCP (3);	0.564738	0.14950	N	0.288970	T	0.21186	0.0510	N	0.03304	-0.355	0.19300	N	0.99998	P	0.40731	0.728	B	0.39706	0.307	T	0.05037	-1.0910	10	0.14252	T	0.57	-2.4227	13.4055	0.60911	0.0:0.2572:0.7428:0.0	.	468	P16581	LYAM2_HUMAN	N	405;343;468;343;405	ENSP00000356755:H405N;ENSP00000356754:H343N;ENSP00000331736:H468N;ENSP00000356749:H343N;ENSP00000356750:H405N	ENSP00000331736:H468N	H	-	1	0	SELE	167963570	0.000000	0.05858	0.006000	0.13384	0.914000	0.54420	0.684000	0.25364	2.675000	0.91044	0.650000	0.86243	CAT	SELE	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000007908		0.488	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SELE	HGNC	protein_coding	OTTHUMT00000084333.1		0.00	39	0	G	NM_000450		169696946	-1			no_errors	ENST00000333360	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.002	T
SEMA4C	54910	genome.wustl.edu	37	2	97530540	97530540	+	Silent	SNP	C	C	T	rs141614070		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr2:97530540C>T	ENST00000305476.5	-	9	996	c.864G>A	c.(862-864)ccG>ccA	p.P288P		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	288	Dominant negative effect on myogenic differentiation. {ECO:0000250}.|Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GCTGCCAGTTCGGGGCAGAGC	0.617																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	58.0	62.0	60.0		864	-8.6	0.0	2	dbSNP_134	60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SEMA4C	NM_017789.4		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		288/834	97530540	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10731	protein-coding gene	gene with protein product	"""M-Sema F"""	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.864G>A	2.37:g.97530540C>T			Q32MJ3|Q7Z5X0	Silent	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.P288	ENST00000305476.5	37	c.864	CCDS2029.1	2																																																																																			SEMA4C	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000168758		0.617	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4C	HGNC	protein_coding	OTTHUMT00000252957.1	-	0.00	69	0	C	NM_017789		97530540	-1	tier1	rs141614070	no_errors	ENST00000305476	ensembl	human	known	74_37	silent	15.62	54	10	SNP	0.015	T
EIF4A1	1973	genome.wustl.edu	37	17	7481906	7481907	+	3'UTR	INS	-	-	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr17:7481906_7481907insT	ENST00000293831.8	+	0	1339_1340				SENP3-EIF4A1_ENST00000579777.1_RNA|SNORA67_ENST00000384423.1_RNA|EIF4A1_ENST00000577269.1_3'UTR|CD68_ENST00000250092.6_5'Flank|EIF4A1_ENST00000582746.1_3'UTR|SNORD10_ENST00000459579.1_RNA|CD68_ENST00000380498.6_5'Flank	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1						cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|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)			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						ACATCTTGTCATTTTTTTTCTT	0.545																																					Melanoma(120;278 1668 15796 27423 46368)												0																																										SO:0001624	3_prime_UTR_variant	0			D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"""DEAD-boxes"""	3282	protein-coding gene	gene with protein product		602641	"""eukaryotic translation initiation factor 4A, isoform 1"""	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.*103->T	17.37:g.7481914_7481914dupT			B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	RNA	INS	-	NULL	ENST00000293831.8	37	NULL	CCDS11113.1	17																																																																																			SENP3-EIF4A1	-	-	ENSG00000265500		0.545	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SENP3-EIF4A1	HGNC	protein_coding	OTTHUMT00000226952.6		0.00	49	0	-	NM_001416		7481907	+1	tier1		no_errors	ENST00000579777	ensembl	human	known	74_37	rna	9.68	28	3	INS	0.349:0.653	T
SENP6	26054	genome.wustl.edu	37	6	76376449	76376449	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr6:76376449A>T	ENST00000447266.2	+	10	1494	c.1016A>T	c.(1015-1017)gAt>gTt	p.D339V	SENP6_ENST00000327284.8_Missense_Mutation_p.D332V|SENP6_ENST00000370014.3_Missense_Mutation_p.D339V|SENP6_ENST00000541192.1_5'Flank|SENP6_ENST00000370010.2_Missense_Mutation_p.D332V	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	339					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AGTGATGATGATGATGACAAC	0.313																																																	0													75.0	71.0	72.0					6																	76376449		1891	4131	6022	SO:0001583	missense	0				CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.1016A>T	6.37:g.76376449A>T	ENSP00000402527:p.Asp339Val		A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.D339V	ENST00000447266.2	37	c.1016	CCDS47454.1	6	.	.	.	.	.	.	.	.	.	.	A	21.1	4.090501	0.76756	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000538088;ENST00000327284;ENST00000447266;ENST00000424947	T;T;T;T;T	0.38887	2.31;2.35;1.11;2.36;1.12	5.32	5.32	0.75619	.	0.406771	0.31082	N	0.008299	T	0.48003	0.1476	L	0.54323	1.7	0.80722	D	1	D;D;D	0.64830	0.994;0.99;0.994	P;P;P	0.60117	0.791;0.623;0.869	T	0.53129	-0.8482	10	0.87932	D	0	-13.9971	15.5769	0.76397	1.0:0.0:0.0:0.0	.	332;339;332	Q9GZR1-2;Q9GZR1;F8W6D9	.;SENP6_HUMAN;.	V	332;339;188;332;339;229	ENSP00000359027:D332V;ENSP00000359031:D339V;ENSP00000321820:D332V;ENSP00000402527:D339V;ENSP00000391426:D229V	ENSP00000321820:D332V	D	+	2	0	SENP6	76433169	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	7.065000	0.76727	2.146000	0.66826	0.528000	0.53228	GAT	SENP6	-	NULL	ENSG00000112701		0.313	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP6	HGNC	protein_coding	OTTHUMT00000041272.2		0.00	15	0	A	NM_015571		76376449	+1			no_errors	ENST00000370014	ensembl	human	known	74_37	missense	18.18	9	2	SNP	1.000	T
SERPING1	710	genome.wustl.edu	37	11	57373936	57373936	+	Silent	SNP	C	C	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr11:57373936C>T	ENST00000278407.4	+	6	1172	c.945C>T	c.(943-945)ttC>ttT	p.F315F	SERPING1_ENST00000340687.6_Silent_p.F315F|SERPING1_ENST00000378324.2_Silent_p.F263F|SERPING1_ENST00000403558.1_Silent_p.F358F|SERPING1_ENST00000378323.4_Silent_p.F320F	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	315				HFKNSVI -> QLQKLSY (in Ref. 19; AA sequence). {ECO:0000305}.	blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CCTTTCACTTCAAAAACTCAG	0.423																																																	0													132.0	129.0	130.0					11																	57373936		2201	4296	6497	SO:0001819	synonymous_variant	0			X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.945C>T	11.37:g.57373936C>T			A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Silent	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.F315	ENST00000278407.4	37	c.945	CCDS7962.1	11																																																																																			SERPING1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000149131		0.423	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SERPING1	HGNC	protein_coding	OTTHUMT00000317465.1	-	0.00	66	0	C	NM_000062		57373936	+1	tier1	-	no_errors	ENST00000278407	ensembl	human	known	74_37	silent	17.86	46	10	SNP	0.002	T
SH3GL2	6456	genome.wustl.edu	37	9	17761480	17761480	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr9:17761480A>T	ENST00000380607.4	+	3	280	c.160A>T	c.(160-162)Aca>Tca	p.T54S	SH3GL2_ENST00000537391.1_Missense_Mutation_p.T7S	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	54	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.|Binds and tubulates liposomes. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of receptor internalization (GO:0002090)|signal transduction (GO:0007165)|synaptic vesicle endocytosis (GO:0048488)	clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		AATGACTAAAACAATTGAATA	0.353																																																	0													120.0	116.0	117.0					9																	17761480		2203	4300	6503	SO:0001583	missense	0			X99657	CCDS6483.1	9p22	2008-02-05			ENSG00000107295	ENSG00000107295			10831	protein-coding gene	gene with protein product		604465				9169142	Standard	XM_005251549		Approved	SH3P4, SH3D2A, CNSA2, EEN-B1	uc003zna.3	Q99962	OTTHUMG00000019601	ENST00000380607.4:c.160A>T	9.37:g.17761480A>T	ENSP00000369981:p.Thr54Ser		B2R618|Q9NQK5	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,pfam_BAR_dom-cont,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.T54S	ENST00000380607.4	37	c.160	CCDS6483.1	9	.	.	.	.	.	.	.	.	.	.	A	21.4	4.148213	0.78001	.	.	ENSG00000107295	ENST00000397481;ENST00000380607;ENST00000537391	T;T	0.64991	-0.13;-0.13	5.38	5.38	0.77491	BAR (3);	0.130222	0.48767	D	0.000169	T	0.72301	0.3443	M	0.84219	2.685	0.45852	D	0.99871	B;P	0.38420	0.203;0.63	B;P	0.45856	0.378;0.495	T	0.75814	-0.3185	10	0.54805	T	0.06	.	14.3608	0.66771	1.0:0.0:0.0:0.0	.	19;54	B7Z7W3;Q99962	.;SH3G2_HUMAN	S	54;54;7	ENSP00000369981:T54S;ENSP00000443365:T7S	ENSP00000369981:T54S	T	+	1	0	SH3GL2	17751480	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.125000	0.64715	2.028000	0.59812	0.477000	0.44152	ACA	SH3GL2	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom	ENSG00000107295		0.353	SH3GL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GL2	HGNC	protein_coding	OTTHUMT00000051796.1	-	0.00	132	0	A	NM_003026		17761480	+1	tier1	-	no_errors	ENST00000380607	ensembl	human	known	74_37	missense	6.78	110	8	SNP	1.000	T
SLC35G5	83650	genome.wustl.edu	37	8	11188922	11188922	+	Missense_Mutation	SNP	T	T	C	rs76944947	byFrequency	TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr8:11188922T>C	ENST00000382435.4	+	1	526	c.307T>C	c.(307-309)Tgg>Cgg	p.W103R		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	103	EamA 1.					integral component of membrane (GO:0016021)		p.W103R(1)									CATCCGAGGCTGGGCCTGCTT	0.602																																																	1	Substitution - Missense(1)	pancreas(1)											216.0	216.0	216.0					8																	11188922		2203	4300	6503	SO:0001583	missense	0			AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"""Solute carriers"""	15546	protein-coding gene	gene with protein product		615199	"""acyl-malonyl condensing enzyme 1-like 2"""	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.307T>C	8.37:g.11188922T>C	ENSP00000371872:p.Trp103Arg		A2RRL6	Missense_Mutation	SNP	pfam_DMT	p.W103R	ENST00000382435.4	37	c.307	CCDS5980.1	8	.	.	.	.	.	.	.	.	.	.	t	0	-2.642709	0.00112	.	.	ENSG00000177710	ENST00000382435	T	0.69306	-0.39	0.34	-0.68	0.11346	.	0.244821	0.21560	N	0.072582	T	0.30665	0.0772	N	0.01168	-0.975	0.18873	N	0.999984	B	0.02656	0.0	B	0.01281	0.0	T	0.14062	-1.0486	10	0.23891	T	0.37	-0.4591	6.793	0.23709	0.0:0.7448:0.0:0.2552	.	103	Q96KT7	S35G5_HUMAN	R	103	ENSP00000371872:W103R	ENSP00000371872:W103R	W	+	1	0	SLC35G5	11226332	0.010000	0.17322	0.030000	0.17652	0.042000	0.13812	0.106000	0.15354	-2.178000	0.00768	-2.006000	0.00442	TGG	SLC35G5	-	pfam_DMT	ENSG00000177710		0.602	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35G5	HGNC	protein_coding	OTTHUMT00000207313.2		0.00	102	0	T	NM_054028		11188922	+1			no_errors	ENST00000382435	ensembl	human	known	74_37	missense	12.05	73	10	SNP	0.984	C
SLC39A4	55630	genome.wustl.edu	37	8	145640648	145640648	+	Silent	SNP	G	G	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr8:145640648G>A	ENST00000301305.3	-	3	735	c.630C>T	c.(628-630)ttC>ttT	p.F210F	SLC39A4_ENST00000531013.1_5'Flank|SLC39A4_ENST00000276833.5_Silent_p.F185F	NM_130849.2	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	210					cellular response to zinc ion starvation (GO:0034224)|cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			TGTGCTGCTGGAACACAAAGT	0.682																																																	0													53.0	53.0	53.0					8																	145640648		2201	4299	6500	SO:0001819	synonymous_variant	0			AK025537	CCDS6424.1, CCDS43782.1	8q24.3	2013-05-22			ENSG00000147804	ENSG00000147804		"""Solute carriers"""	17129	protein-coding gene	gene with protein product		607059	"""acrodermatitis enteropathica, zinc-deficiency type"""	AEZ		12801924, 12659941, 14709598	Standard	NM_017767		Approved	ZIP4, AWMS2	uc003zcq.3	Q6P5W5		ENST00000301305.3:c.630C>T	8.37:g.145640648G>A			Q7L5S5|Q9H6T8|Q9NXC4	Silent	SNP	pfam_ZIP	p.F210	ENST00000301305.3	37	c.630	CCDS6424.1	8																																																																																			SLC39A4	-	NULL	ENSG00000147804		0.682	SLC39A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC39A4	HGNC	protein_coding	OTTHUMT00000382688.1	-	0.00	23	0	G			145640648	-1	tier1	-	no_errors	ENST00000301305	ensembl	human	known	74_37	silent	30.56	25	11	SNP	0.103	A
SLC4A9	83697	genome.wustl.edu	37	5	139743984	139743984	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr5:139743984G>T	ENST00000230993.6	+	11	1532	c.1497G>T	c.(1495-1497)tgG>tgT	p.W499C	SLC4A9_ENST00000507527.1_Missense_Mutation_p.W499C|SLC4A9_ENST00000506757.2_Missense_Mutation_p.W475C|SLC4A9_ENST00000432095.2_Missense_Mutation_p.W464C|SLC4A9_ENST00000506545.1_Missense_Mutation_p.W475C	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	499	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGCCTATGGGTGGGCATCT	0.587																																																	0													55.0	58.0	57.0					5																	139743984		2062	4210	6272	SO:0001583	missense	0			AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"""Solute carriers"""	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.1497G>T	5.37:g.139743984G>T	ENSP00000230993:p.Trp499Cys		B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.W499C	ENST00000230993.6	37	c.1497	CCDS58973.1	5	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097160	0.76870	.	.	ENSG00000113073	ENST00000230993;ENST00000506757;ENST00000432095;ENST00000506545;ENST00000507527	D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5	5.06	5.06	0.68205	Bicarbonate transporter, C-terminal (1);	0.104002	0.44688	D	0.000438	D	0.88837	0.6545	M	0.67517	2.055	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77004	0.989;0.983;0.944;0.944	D	0.88362	0.2988	10	0.51188	T	0.08	.	18.9956	0.92812	0.0:0.0:1.0:0.0	.	475;499;464;475	E9PDK1;Q96Q91;Q96Q91-2;Q96Q91-3	.;B3A4_HUMAN;.;.	C	499;475;464;475;499	ENSP00000230993:W499C;ENSP00000424424:W475C;ENSP00000410056:W464C;ENSP00000422855:W475C;ENSP00000427661:W499C	ENSP00000230993:W499C	W	+	3	0	SLC4A9	139724168	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.711000	0.84669	2.813000	0.96785	0.655000	0.94253	TGG	SLC4A9	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk	ENSG00000113073		0.587	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	SLC4A9	HGNC	protein_coding	OTTHUMT00000372823.1	-	0.00	98	0	G	NM_031467		139743984	+1	tier1	-	no_errors	ENST00000230993	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T
SLC7A7	9056	genome.wustl.edu	37	14	23245096	23245096	+	Nonsense_Mutation	SNP	G	G	C			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr14:23245096G>C	ENST00000397532.3	-	6	1469	c.944C>G	c.(943-945)tCa>tGa	p.S315*	SLC7A7_ENST00000555702.1_Nonsense_Mutation_p.S315*|SLC7A7_ENST00000285850.7_Nonsense_Mutation_p.S315*|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397528.4_Nonsense_Mutation_p.S315*|SLC7A7_ENST00000554517.1_Nonsense_Mutation_p.S49*|SLC7A7_ENST00000397529.2_Nonsense_Mutation_p.S315*			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	315					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		TAATGCAACTGACAGTGGAAT	0.413																																																	0													133.0	138.0	136.0					14																	23245096		2203	4300	6503	SO:0001587	stop_gained	0			AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"""Solute carriers"""	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.944C>G	14.37:g.23245096G>C	ENSP00000380666:p.Ser315*		B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Nonsense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	p.S315*	ENST00000397532.3	37	c.944	CCDS9574.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	9.003798|9.003798	0.99033|0.99033	.|.	.|.	ENSG00000155465|ENSG00000155465	ENST00000556350|ENST00000285850;ENST00000555702;ENST00000397532;ENST00000404278;ENST00000397529;ENST00000397528;ENST00000554517	.|.	.|.	.|.	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	.|0.050554	.|0.85682	.|D	.|0.000000	T|.	0.66167|.	0.2762|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.55798|.	-0.8084|.	3|.	.|0.15499	.|T	.|0.54	.|.	19.4349|19.4349	0.94788|0.94788	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	E|X	30|315;315;315;288;315;315;49	.|.	.|ENSP00000285850:S315X	Q|S	-|-	1|2	0|0	SLC7A7|SLC7A7	22314936|22314936	1.000000|1.000000	0.71417|0.71417	0.973000|0.973000	0.42090|0.42090	0.889000|0.889000	0.51656|0.51656	9.405000|9.405000	0.97313|0.97313	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	CAG|TCA	SLC7A7	-	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	ENSG00000155465		0.413	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC7A7	HGNC	protein_coding	OTTHUMT00000071636.3	-	0.00	36	0	G			23245096	-1	tier1	-	no_errors	ENST00000285850	ensembl	human	known	74_37	nonsense	22.22	14	4	SNP	1.000	C
SLITRK2	84631	genome.wustl.edu	37	X	144904330	144904330	+	Silent	SNP	C	C	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chrX:144904330C>A	ENST00000370490.1	+	1	4642	c.387C>A	c.(385-387)acC>acA	p.T129T	SLITRK2_ENST00000413937.2_Silent_p.T129T|SLITRK2_ENST00000434188.2_Silent_p.T129T|SLITRK2_ENST00000447897.2_Silent_p.T129T|SLITRK2_ENST00000428560.2_Silent_p.T129T			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	129					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GGGAGGACACCTTCCTAGGCC	0.507																																																	0													81.0	64.0	70.0					X																	144904330		2203	4300	6503	SO:0001819	synonymous_variant	0			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.387C>A	X.37:g.144904330C>A			A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Silent	SNP	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.T129	ENST00000370490.1	37	c.387	CCDS14680.1	X																																																																																			SLITRK2	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000185985		0.507	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK2	HGNC	protein_coding	OTTHUMT00000058633.1	-	0.00	28	0	C	NM_032539		144904330	+1	tier1	-	no_errors	ENST00000370490	ensembl	human	known	74_37	silent	11.90	37	5	SNP	0.552	A
SMPD3	55512	genome.wustl.edu	37	16	68405671	68405671	+	Silent	SNP	G	G	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr16:68405671G>T	ENST00000219334.5	-	3	1017	c.414C>A	c.(412-414)ctC>ctA	p.L138L	SMPD3_ENST00000563226.1_Silent_p.L138L|SMPD3_ENST00000566009.1_5'Flank|SMPD3_ENST00000568373.1_Silent_p.L138L	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	138					cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	TGACCCTGGCGAGTGAGTCGG	0.612																																																	0													17.0	20.0	19.0					16																	68405671		2197	4299	6496	SO:0001819	synonymous_variant	0			AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.414C>A	16.37:g.68405671G>T			B7ZL82|Q2M1S8	Silent	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.L138	ENST00000219334.5	37	c.414	CCDS10867.1	16																																																																																			SMPD3	-	NULL	ENSG00000103056		0.612	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPD3	HGNC	protein_coding	OTTHUMT00000268895.3		0.00	47	0	G	NM_018667		68405671	-1			no_errors	ENST00000219334	ensembl	human	known	74_37	silent	6.45	29	2	SNP	0.988	T
SNHG14	104472715	genome.wustl.edu	37	15	25434591	25434591	+	RNA	SNP	G	G	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr15:25434591G>A	ENST00000424208.1	+	0	937				SNHG14_ENST00000414175.1_RNA|SNORD115-10_ENST00000365073.1_RNA|SNORD115-11_ENST00000363616.1_RNA|SNORD115-12_ENST00000362583.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		ATATTGTCCTGAAGAGAGGTG	0.527																																																	0													484.0	474.0	477.0					15																	25434591		876	1991	2867			0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25434591G>A				RNA	SNP	-	NULL	ENST00000424208.1	37	NULL		15																																																																																			SNORD115-11	-	-	ENSG00000200486		0.527	SNHG14-002	KNOWN	basic	antisense	SNORD115-11	HGNC	processed_transcript	OTTHUMT00000126729.2		0.00	84	0	G			25434591	+1			no_errors	ENST00000363616	ensembl	human	known	74_37	rna	5.45	52	3	SNP	0.093	A
SORL1	6653	genome.wustl.edu	37	11	121340776	121340776	+	Missense_Mutation	SNP	G	G	T	rs564006388		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr11:121340776G>T	ENST00000260197.7	+	2	475	c.346G>T	c.(346-348)Gtg>Ttg	p.V116L	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	116					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GAAAAGCAACGTGATCGTGGC	0.512																																																	0													174.0	138.0	150.0					11																	121340776		2203	4299	6502	SO:0001583	missense	0			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.346G>T	11.37:g.121340776G>T	ENSP00000260197:p.Val116Leu		B2RNX7|Q92856	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.V116L	ENST00000260197.7	37	c.346	CCDS8436.1	11	.	.	.	.	.	.	.	.	.	.	G	33	5.210551	0.95069	.	.	ENSG00000137642	ENST00000260197	T	0.41400	1.0	6.03	6.03	0.97812	.	0.119890	0.56097	D	0.000035	T	0.62233	0.2411	L	0.52823	1.66	0.80722	D	1	D	0.69078	0.997	D	0.76575	0.988	T	0.57533	-0.7795	10	0.48119	T	0.1	.	19.3381	0.94329	0.0:0.0:1.0:0.0	.	116	Q92673	SORL_HUMAN	L	116	ENSP00000260197:V116L	ENSP00000260197:V116L	V	+	1	0	SORL1	120845986	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.956000	0.93066	2.854000	0.98071	0.655000	0.94253	GTG	SORL1	-	NULL	ENSG00000137642		0.512	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2		0.00	50	0	G	NM_003105		121340776	+1			no_errors	ENST00000260197	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	T
STON2	85439	genome.wustl.edu	37	14	81744226	81744227	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr14:81744226_81744227CC>AA	ENST00000267540.2	-	4	1628_1629	c.1428_1429GG>TT	c.(1426-1431)ctGGag>ctTTag	p.E477*	STON2_ENST00000556280.1_5'Flank|STON2_ENST00000555447.1_Nonsense_Mutation_p.E477*	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	477	SHD. {ECO:0000255|PROSITE- ProRule:PRU00403}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TGACAGATCTCCAGCTTGAACT	0.48																																																	0																																										SO:0001587	stop_gained	0			AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.1428_1429delinsAA	14.37:g.81744226_81744227delinsAA	ENSP00000267540:p.Glu477*		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Nonsense_Mutation|Silent	SNP	pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD	p.E477*|p.L476	ENST00000267540.2	37	c.1429|c.1428	CCDS9875.1	14																																																																																			STON2	-	pirsf_Stonin,pfscan_SHD	ENSG00000140022		0.480	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STON2	HGNC	protein_coding	OTTHUMT00000413317.1	-	0.00	50	0	C	NM_033104		81744226|81744227	-1	tier1	-	no_errors	ENST00000267540	ensembl	human	known	74_37	nonsense|silent	9.26	49	5	SNP	1.000|0.998	A
STRIP1	85369	genome.wustl.edu	37	1	110590208	110590208	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:110590208A>T	ENST00000369795.3	+	14	1555	c.1533A>T	c.(1531-1533)caA>caT	p.Q511H	STRIP1_ENST00000369796.1_Missense_Mutation_p.Q416H|STRIP1_ENST00000461054.1_3'UTR	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	511					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											CCCTCTACCAAGGCTTGCTCC	0.532																																																	0													83.0	76.0	78.0					1																	110590208		2203	4300	6503	SO:0001583	missense	0			AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog A (yeast)"""		"""family with sequence similarity 40, member A"""	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.1533A>T	1.37:g.110590208A>T	ENSP00000358810:p.Gln511His		Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Missense_Mutation	SNP	pfam_DUF3402,pfam_N1221	p.Q511H	ENST00000369795.3	37	c.1533	CCDS30798.1	1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.929195	0.52759	.	.	ENSG00000143093	ENST00000369796;ENST00000369795	T;T	0.48522	0.81;0.81	4.9	3.75	0.43078	.	0.058000	0.64402	D	0.000001	T	0.36331	0.0963	M	0.85099	2.735	0.80722	D	1	B;B	0.10296	0.0;0.003	B;B	0.17979	0.003;0.02	T	0.48305	-0.9047	10	0.45353	T	0.12	-10.4079	9.2319	0.37441	0.856:0.0:0.144:0.0	.	416;511	Q5VSL9-2;Q5VSL9	.;FA40A_HUMAN	H	416;511	ENSP00000358811:Q416H;ENSP00000358810:Q511H	ENSP00000358810:Q511H	Q	+	3	2	FAM40A	110391731	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.130000	0.42064	2.073000	0.62155	0.533000	0.62120	CAA	STRIP1	-	pfam_DUF3402	ENSG00000143093		0.532	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRIP1	HGNC	protein_coding	OTTHUMT00000032213.1	-	0.00	48	0	A	NM_033088		110590208	+1	tier1	-	no_errors	ENST00000369795	ensembl	human	known	74_37	missense	20.00	39	10	SNP	1.000	T
SUV420H2	84787	genome.wustl.edu	37	19	55855145	55855145	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr19:55855145A>T	ENST00000255613.3	+	5	732	c.484A>T	c.(484-486)Atc>Ttc	p.I162F	SUV420H2_ENST00000402499.4_Intron|AC020922.1_ENST00000539076.1_Intron	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	162	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H4-K20 trimethylation (GO:0034773)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		TGACTTCAGCATCATGTACTC	0.607																																																	0													55.0	55.0	55.0					19																	55855145		2201	4298	6499	SO:0001583	missense	0			BC005842	CCDS12922.1	19q13.42	2011-07-01			ENSG00000133247	ENSG00000133247		"""Chromatin-modifying enzymes / K-methyltransferases"""	28405	protein-coding gene	gene with protein product		613198				12477932	Standard	NM_032701		Approved	MGC2705, KMT5C	uc002qkj.4	Q86Y97	OTTHUMG00000150483	ENST00000255613.3:c.484A>T	19.37:g.55855145A>T	ENSP00000255613:p.Ile162Phe		Q8WZ10|Q9BRZ6	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.I162F	ENST00000255613.3	37	c.484	CCDS12922.1	19	.	.	.	.	.	.	.	.	.	.	A	19.13	3.768051	0.69878	.	.	ENSG00000133247	ENST00000255613	D	0.85339	-1.97	3.86	0.487	0.16842	SET domain (2);	0.214244	0.29522	N	0.011919	D	0.84070	0.5391	L	0.60904	1.88	0.80722	D	1	D	0.56746	0.977	P	0.51079	0.658	T	0.81061	-0.1103	10	0.66056	D	0.02	-5.525	8.3682	0.32399	0.4981:0.0:0.5019:0.0	.	162	Q86Y97	SV422_HUMAN	F	162	ENSP00000255613:I162F	ENSP00000255613:I162F	I	+	1	0	SUV420H2	60546957	1.000000	0.71417	0.993000	0.49108	0.872000	0.50106	2.491000	0.45303	-0.089000	0.12484	0.477000	0.44152	ATC	SUV420H2	-	pfam_SET_dom,smart_SET_dom	ENSG00000133247		0.607	SUV420H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUV420H2	HGNC	protein_coding	OTTHUMT00000318309.2	-	0.00	41	0	A	NM_032701		55855145	+1	tier1	-	no_errors	ENST00000255613	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	T
TAF3	83860	genome.wustl.edu	37	10	8006229	8006229	+	Silent	SNP	T	T	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr10:8006229T>A	ENST00000344293.5	+	3	962	c.756T>A	c.(754-756)gtT>gtA	p.V252V		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	252					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						TGGCTCCAGTTGCAAAATCAC	0.433																																																	0													70.0	68.0	69.0					10																	8006229		1896	4124	6020	SO:0001819	synonymous_variant	0			AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.756T>A	10.37:g.8006229T>A			Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Silent	SNP	pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.V252	ENST00000344293.5	37	c.756	CCDS41487.1	10																																																																																			TAF3	-	NULL	ENSG00000165632		0.433	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF3	HGNC	protein_coding	OTTHUMT00000046725.1	-	0.00	27	0	T	NM_031923		8006229	+1	tier1	-	no_errors	ENST00000344293	ensembl	human	known	74_37	silent	14.81	23	4	SNP	0.951	A
TANGO2	128989	genome.wustl.edu	37	22	20049072	20049072	+	Silent	SNP	C	C	T	rs148730599		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr22:20049072C>T	ENST00000327374.4	+	7	649	c.471C>T	c.(469-471)aaC>aaT	p.N157N	AC006547.13_ENST00000600937.1_RNA|AC006547.13_ENST00000598339.1_RNA|AC006547.13_ENST00000609191.1_RNA|AC006547.13_ENST00000608610.1_RNA|AC006547.13_ENST00000600617.1_RNA|TANGO2_ENST00000398042.2_Silent_p.N95N|AC006547.13_ENST00000609644.1_RNA|TANGO2_ENST00000432883.1_Silent_p.N95N|AC006547.13_ENST00000595864.1_RNA|AC006547.13_ENST00000601746.1_RNA|TANGO2_ENST00000401833.1_Silent_p.N198N|TANGO2_ENST00000401886.1_Silent_p.N95N|AC006547.13_ENST00000415503.1_RNA|AC006547.13_ENST00000596334.1_RNA|TANGO2_ENST00000434570.2_Intron|TANGO2_ENST00000456048.1_Silent_p.N162N|TANGO2_ENST00000447208.2_Silent_p.N157N|TANGO2_ENST00000420290.2_Silent_p.N59N	NM_001283106.1|NM_001283116.1|NM_001283148.1|NM_001283154.1|NM_152906.4	NP_001270035.1|NP_001270045.1|NP_001270077.1|NP_001270083.1|NP_690870.3	Q6ICL3	TNG2_HUMAN	transport and golgi organization 2 homolog (Drosophila)	157																	GGCTGAGCAACGCGCTGCTGG	0.622																																																	0								C		0,4404		0,0,2202	28.0	28.0	28.0		471	-5.7	0.4	22	dbSNP_134	28	2,8594	1.2+/-3.3	0,2,4296	no	coding-synonymous	C22orf25	NM_152906.4		0,2,6498	TT,TC,CC		0.0233,0.0,0.0154		157/277	20049072	2,12998	2202	4298	6500	SO:0001819	synonymous_variant	0				CCDS13772.1, CCDS63404.1, CCDS63405.1, CCDS63406.1, CCDS63407.1, CCDS74821.1, CCDS74822.1	22q11.21	2012-12-13	2012-12-13	2012-12-13	ENSG00000183597	ENSG00000183597			25439	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 25"""	C22orf25		12477932	Standard	XM_005261222		Approved	DKFZp761P1121	uc002zrc.1	Q6ICL3	OTTHUMG00000150510	ENST00000327374.4:c.471C>T	22.37:g.20049072C>T			A8MUE9|B7WNV6|B7Z583|B7Z730|D3DX23|Q8IW05|Q8NAL0|Q8TCS0|Q96M16	Silent	SNP	pfam_DUF833	p.N162	ENST00000327374.4	37	c.486	CCDS13772.1	22																																																																																			TANGO2	-	pfam_DUF833	ENSG00000183597		0.622	TANGO2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TANGO2	HGNC	protein_coding	OTTHUMT00000318689.2	-	0.00	51	0	C	NM_152906		20049072	+1	tier1	rs148730599	no_errors	ENST00000456048	ensembl	human	known	74_37	silent	15.00	34	6	SNP	0.679	T
TCTEX1D2	255758	genome.wustl.edu	37	3	196044938	196044938	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr3:196044938T>C	ENST00000325318.5	-	1	221	c.86A>G	c.(85-87)tAt>tGt	p.Y29C	TM4SF19-AS1_ENST00000420226.1_RNA|TM4SF19_ENST00000442633.1_Intron|TM4SF19-AS1_ENST00000452051.1_RNA|RP11-447L10.1_ENST00000431391.1_Missense_Mutation_p.Y29C|TM4SF19-AS1_ENST00000444939.1_RNA	NM_152773.4	NP_689986.2	Q8WW35	TC1D2_HUMAN	Tctex1 domain containing 2	29										breast(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	7	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		CCGCAGAATATAGGTGTTCTC	0.677																																																	0													45.0	42.0	43.0					3																	196044938		2203	4300	6503	SO:0001583	missense	0			BC021177	CCDS33929.1	3q29	2010-07-19			ENSG00000213123	ENSG00000213123			28482	protein-coding gene	gene with protein product						12477932	Standard	NM_152773		Approved	MGC33212	uc003fwi.3	Q8WW35	OTTHUMG00000155672	ENST00000325318.5:c.86A>G	3.37:g.196044938T>C	ENSP00000324323:p.Tyr29Cys		A6NCN5	Missense_Mutation	SNP	pfam_Tctex	p.Y29C	ENST00000325318.5	37	c.86	CCDS33929.1	3	.	.	.	.	.	.	.	.	.	.	T	14.73	2.622838	0.46840	.	.	ENSG00000213123	ENST00000325318;ENST00000545438	T	0.41065	1.01	4.84	3.68	0.42216	.	0.000000	0.50627	U	0.000104	T	0.49304	0.1549	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.48625	-0.9019	10	0.87932	D	0	-7.889	7.1169	0.25421	0.0:0.1012:0.0:0.8988	.	29	Q8WW35	TC1D2_HUMAN	C	29	ENSP00000324323:Y29C	ENSP00000324323:Y29C	Y	-	2	0	TCTEX1D2	197529335	1.000000	0.71417	0.989000	0.46669	0.021000	0.10359	3.588000	0.53964	0.866000	0.35629	-0.379000	0.06801	TAT	TCTEX1D2	-	NULL	ENSG00000213123		0.677	TCTEX1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTEX1D2	HGNC	protein_coding	OTTHUMT00000341166.1	-	0.00	60	0	T	NM_152773		196044938	-1	tier1	-	no_errors	ENST00000325318	ensembl	human	known	74_37	missense	14.75	52	9	SNP	0.992	C
TECRL	253017	genome.wustl.edu	37	4	65180404	65180404	+	Silent	SNP	T	T	C			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr4:65180404T>C	ENST00000381210.3	-	5	623	c.513A>G	c.(511-513)ggA>ggG	p.G171G	TECRL_ENST00000507440.1_Silent_p.G171G|TECRL_ENST00000513125.1_5'UTR	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	171					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CACTCTCTTTTCCATCATATA	0.408																																																	0													115.0	109.0	111.0					4																	65180404		2203	4300	6503	SO:0001819	synonymous_variant	0			AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.513A>G	4.37:g.65180404T>C				Silent	SNP	pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C	p.G171	ENST00000381210.3	37	c.513	CCDS33990.1	4																																																																																			TECRL	-	NULL	ENSG00000205678		0.408	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TECRL	HGNC	protein_coding	OTTHUMT00000361705.4	-	0.00	30	0	T	NM_001010874		65180404	-1	tier1	-	no_errors	ENST00000381210	ensembl	human	known	74_37	silent	38.71	19	12	SNP	0.005	C
TEX10	54881	genome.wustl.edu	37	9	103108464	103108464	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr9:103108464G>T	ENST00000374902.4	-	4	1203	c.1027C>A	c.(1027-1029)Cct>Act	p.P343T	TEX10_ENST00000537512.1_Missense_Mutation_p.P278T|TEX10_ENST00000535814.1_Missense_Mutation_p.P346T	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	343						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TTCCCAACAGGAGTAGCTAGT	0.393																																																	0													112.0	107.0	109.0					9																	103108464		2203	4300	6503	SO:0001583	missense	0			AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.1027C>A	9.37:g.103108464G>T	ENSP00000364037:p.Pro343Thr		B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	pfam_IPI1/TEX10,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.P343T	ENST00000374902.4	37	c.1027	CCDS6748.1	9	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.089053	0.00367	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000444730;ENST00000537512	.	.	.	5.46	1.89	0.25635	Armadillo-like helical (1);Armadillo-type fold (1);	0.435677	0.26535	N	0.023823	T	0.17789	0.0427	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.25904	0.0;0.0;0.137;0.065;0.0	B;B;B;B;B	0.25140	0.0;0.001;0.058;0.023;0.001	T	0.10474	-1.0628	9	0.14656	T	0.56	-2.4879	0.4265	0.00464	0.4081:0.127:0.1762:0.2887	.	278;346;211;211;343	B7Z9D5;B4DYV2;E7ERG2;B4DQR0;Q9NXF1	.;.;.;.;TEX10_HUMAN	T	346;343;211;278	.	ENSP00000364037:P343T	P	-	1	0	TEX10	102148285	1.000000	0.71417	0.537000	0.28052	0.045000	0.14185	0.656000	0.24948	0.371000	0.24564	-0.367000	0.07326	CCT	TEX10	-	superfamily_ARM-type_fold	ENSG00000136891		0.393	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX10	HGNC	protein_coding	OTTHUMT00000053416.1	-	0.00	44	0	G	NM_017746		103108464	-1	tier1	-	no_errors	ENST00000374902	ensembl	human	known	74_37	missense	15.00	17	3	SNP	0.006	T
TJP1	7082	genome.wustl.edu	37	15	30012102	30012102	+	Frame_Shift_Del	DEL	G	G	-			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr15:30012102delG	ENST00000346128.6	-	20	3356	c.2882delC	c.(2881-2883)ccafs	p.P961fs	TJP1_ENST00000545208.2_Intron|TJP1_ENST00000400011.2_Intron|TJP1_ENST00000356107.6_Frame_Shift_Del_p.P961fs	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	961					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GGAAGGAGCTGGGGTGGGCTC	0.448																																					Melanoma(77;681 1843 6309 6570)												0													138.0	134.0	136.0					15																	30012102		1924	4122	6046	SO:0001589	frameshift_variant	0				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.2882delC	15.37:g.30012102delG	ENSP00000281537:p.Pro961fs		B4E3K1|Q2NKP3|Q4ZGJ6	Frame_Shift_Del	DEL	pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens	p.P961fs	ENST00000346128.6	37	c.2882	CCDS42007.1	15																																																																																			TJP1	-	NULL	ENSG00000104067		0.448	TJP1-001	KNOWN	basic|CCDS	protein_coding	TJP1	HGNC	protein_coding	OTTHUMT00000268237.3		0.00	85	0	G	NM_003257		30012102	-1	tier1		no_errors	ENST00000346128	ensembl	human	known	74_37	frame_shift_del	28.57	35	14	DEL	0.342	-
TMC4	147798	genome.wustl.edu	37	19	54669176	54669176	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr19:54669176G>A	ENST00000376591.4	-	6	1071	c.940C>T	c.(940-942)Cgc>Tgc	p.R314C	TMC4_ENST00000301187.4_Missense_Mutation_p.R308C|TMC4_ENST00000476013.2_Intron|TMC4_ENST00000416963.1_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	314					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AAGATGATGCGCTGGCGCAGC	0.622																																																	0													44.0	35.0	38.0					19																	54669176		2203	4300	6503	SO:0001583	missense	0			AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.940C>T	19.37:g.54669176G>A	ENSP00000365776:p.Arg314Cys		Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	pfam_TMC	p.R308C	ENST00000376591.4	37	c.922	CCDS46174.1	19	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750044	0.49257	.	.	ENSG00000167608	ENST00000301187;ENST00000376591	T;T	0.44881	0.91;0.91	4.8	1.03	0.20045	.	0.590668	0.18426	N	0.141598	T	0.51975	0.1706	M	0.76574	2.34	0.34121	D	0.66409	D;B	0.69078	0.997;0.243	P;B	0.56343	0.796;0.036	T	0.63225	-0.6685	10	0.52906	T	0.07	-7.0659	7.6529	0.28358	0.0:0.3448:0.4778:0.1774	.	314;308	Q7Z404;Q7Z404-1	TMC4_HUMAN;.	C	308;314	ENSP00000301187:R308C;ENSP00000365776:R314C	ENSP00000301187:R308C	R	-	1	0	TMC4	59360988	0.826000	0.29277	0.897000	0.35233	0.909000	0.53808	1.752000	0.38349	0.530000	0.28619	0.650000	0.86243	CGC	TMC4	-	NULL	ENSG00000167608		0.622	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TMC4	HGNC	protein_coding	OTTHUMT00000156164.2		0.00	50	0	G			54669176	-1			no_errors	ENST00000301187	ensembl	human	known	74_37	missense	10.34	26	3	SNP	0.565	A
TMEM95	339168	genome.wustl.edu	37	17	7259742	7259742	+	Silent	SNP	G	G	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr17:7259742G>T	ENST00000576060.1	+	6	468	c.441G>T	c.(439-441)ctG>ctT	p.L147L	RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000389982.4_Missense_Mutation_p.A145S|TMEM95_ENST00000330767.4_Silent_p.L155L			Q3KNT9	TMM95_HUMAN	transmembrane protein 95	147						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				CCAAGATTCTGCTCCTCTCCA	0.567											OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													191.0	190.0	190.0					17																	7259742		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32546.1	17p13.1	2005-12-15			ENSG00000182896	ENSG00000182896			27898	protein-coding gene	gene with protein product						12975309	Standard	NM_198154		Approved	MGC129793, UNQ9390	uc002ggf.1	Q3KNT9	OTTHUMG00000132899	ENST00000576060.1:c.441G>T	17.37:g.7259742G>T		640	B7WPI7|Q6UXT3|Q8IW68	Missense_Mutation	SNP	NULL	p.A145S	ENST00000576060.1	37	c.433		17	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247778	0.39697	.	.	ENSG00000182896	ENST00000389982	.	.	.	5.34	1.88	0.25563	.	1.555220	0.04468	N	0.375482	T	0.66167	0.2762	.	.	.	0.80722	D	1	P	0.52061	0.95	P	0.54431	0.752	T	0.62196	-0.6905	8	0.51188	T	0.08	.	7.8631	0.29522	0.0921:0.2368:0.6711:0.0	.	145	Q3KNT9-3	.	S	145	.	ENSP00000374632:A145S	A	+	1	0	TMEM95	7200466	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	0.931000	0.28871	1.220000	0.43490	0.561000	0.74099	GCT	TMEM95	-	NULL	ENSG00000182896		0.567	TMEM95-003	KNOWN	basic	protein_coding	TMEM95	HGNC	protein_coding	OTTHUMT00000440555.2	-	0.00	58	0	G	NM_198154		7259742	+1	tier1	-	no_errors	ENST00000389982	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.997	T
TP53	7157	genome.wustl.edu	37	17	7574003	7574003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr17:7574003G>A	ENST00000269305.4	-	10	1213	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R342*	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	342	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (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.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(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)	TTCAGCTCTCGGAACATCTCG	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	89	Substitution - Nonsense(70)|Whole gene deletion(8)|Deletion - Frameshift(7)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)	breast(16)|upper_aerodigestive_tract(11)|large_intestine(9)|central_nervous_system(9)|ovary(7)|lung(6)|skin(5)|liver(5)|haematopoietic_and_lymphoid_tissue(4)|pancreas(4)|bone(4)|stomach(2)|urinary_tract(2)|oesophagus(2)|kidney(1)|peritoneum(1)|endometrium(1)	GRCh37	CM004908	TP53	M							62.0	48.0	53.0					17																	7574003		2203	4300	6503	SO:0001587	stop_gained	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.1024C>T	17.37:g.7574003G>A	ENSP00000269305:p.Arg342*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	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.R342*	ENST00000269305.4	37	c.1024	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.061927	0.97246	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.43	3.43	0.39272	.	0.217683	0.37906	N	0.001893	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-0.3792	6.4477	0.21885	0.0845:0.0:0.5925:0.323	.	.	.	.	X	342;342;331	.	ENSP00000269305:R342X	R	-	1	2	TP53	7514728	0.820000	0.29190	0.702000	0.30337	0.859000	0.49053	2.169000	0.42434	0.657000	0.30906	0.561000	0.74099	CGA	TP53	-	pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	ENSG00000141510		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	16	0	G	NM_000546		7574003	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	46.67	8	7	SNP	0.307	A
TP53	7157	genome.wustl.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and 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.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	GRCh37	CM015378|CM951227	TP53	M	rs121912666						102.0	94.0	97.0					17																	7578190		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.Y220C	ENST00000269305.4	37	c.659	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	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;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	72	0	T	NM_000546		7578190	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	13.95	37	6	SNP	0.998	C
TRANK1	9881	genome.wustl.edu	37	3	36900302	36900302	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr3:36900302G>C	ENST00000429976.2	-	11	1694	c.1447C>G	c.(1447-1449)Ctc>Gtc	p.L483V	TRANK1_ENST00000428977.2_5'UTR|TRANK1_ENST00000301807.6_5'UTR	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	483							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTGGTCAAGAGAAGGAAAGCC	0.527																																																	0													96.0	87.0	90.0					3																	36900302		692	1591	2283	SO:0001583	missense	0			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.1447C>G	3.37:g.36900302G>C	ENSP00000416168:p.Leu483Val		Q8N8K0	Missense_Mutation	SNP	pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.L483V	ENST00000429976.2	37	c.1447	CCDS46789.2	3	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399167	0.62177	.	.	ENSG00000168016	ENST00000429976	T	0.80480	-1.38	4.68	3.77	0.43336	.	.	.	.	.	D	0.88779	0.6529	M	0.90870	3.155	0.80722	D	1	.	.	.	.	.	.	D	0.89415	0.3706	7	0.87932	D	0	.	8.6641	0.34110	0.0803:0.1539:0.7658:0.0	.	.	.	.	V	483	ENSP00000416168:L483V	ENSP00000416168:L483V	L	-	1	0	TRANK1	36875306	1.000000	0.71417	0.975000	0.42487	0.889000	0.51656	3.239000	0.51360	1.279000	0.44446	0.563000	0.77884	CTC	TRANK1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000168016		0.527	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	HGNC	protein_coding		-	0.00	46	0	G	NM_014831		36900302	-1	tier1	-	no_errors	ENST00000429976	ensembl	human	known	74_37	missense	16.67	20	4	SNP	0.984	C
TRERF1	55809	genome.wustl.edu	37	6	42233492	42233492	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr6:42233492G>T	ENST00000372922.4	-	6	2043	c.1481C>A	c.(1480-1482)tCa>tAa	p.S494*	TRERF1_ENST00000340840.2_Nonsense_Mutation_p.S494*|TRERF1_ENST00000372917.4_Nonsense_Mutation_p.S494*|TRERF1_ENST00000354325.2_Nonsense_Mutation_p.S494*|TRERF1_ENST00000541110.1_Nonsense_Mutation_p.S494*	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	494	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ATCCTACCTTGACTCAGGGGA	0.448																																																	0													58.0	58.0	58.0					6																	42233492		2203	4300	6503	SO:0001587	stop_gained	0			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.1481C>A	6.37:g.42233492G>T	ENSP00000362013:p.Ser494*		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Nonsense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.S494*	ENST00000372922.4	37	c.1481	CCDS4867.1	6	.	.	.	.	.	.	.	.	.	.	G	44	10.679213	0.99448	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	.	.	.	4.65	4.65	0.58169	.	0.268722	0.26170	N	0.025927	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	13.3858	0.60795	0.0:0.0:1.0:0.0	.	.	.	.	X	494	.	ENSP00000339438:S494X	S	-	2	0	TRERF1	42341470	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.576000	0.46033	2.297000	0.77311	0.491000	0.48974	TCA	TRERF1	-	NULL	ENSG00000124496		0.448	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRERF1	HGNC	protein_coding	OTTHUMT00000040551.2		0.00	47	0	G	NM_033502		42233492	-1			no_errors	ENST00000541110	ensembl	human	known	74_37	nonsense	5.56	68	4	SNP	1.000	T
TRIP12	9320	genome.wustl.edu	37	2	230656615	230656615	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr2:230656615C>T	ENST00000283943.5	-	28	4335	c.4157G>A	c.(4156-4158)aGa>aAa	p.R1386K	TRIP12_ENST00000389044.4_Missense_Mutation_p.R1434K|TRIP12_ENST00000389045.3_Missense_Mutation_p.R1116K	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1386					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AATACCAGCTCTGCCTAGAGG	0.378																																																	0													191.0	186.0	188.0					2																	230656615		2203	4300	6503	SO:0001583	missense	0			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.4157G>A	2.37:g.230656615C>T	ENSP00000283943:p.Arg1386Lys		D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.R1386K	ENST00000283943.5	37	c.4157	CCDS33391.1	2	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781994	0.70222	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.42131	0.98;1.32;0.98	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.54367	0.1854	L	0.39898	1.24	0.80722	D	1	P;P;P	0.44690	0.841;0.826;0.841	P;P;P	0.57204	0.815;0.487;0.815	T	0.40459	-0.9562	10	0.36615	T	0.2	.	20.0205	0.97499	0.0:1.0:0.0:0.0	.	1116;1434;1386	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	K	1386;1116;1434	ENSP00000283943:R1386K;ENSP00000373697:R1116K;ENSP00000373696:R1434K	ENSP00000283943:R1386K	R	-	2	0	TRIP12	230364859	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.446000	0.80609	2.712000	0.92718	0.585000	0.79938	AGA	TRIP12	-	NULL	ENSG00000153827		0.378	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	HGNC	protein_coding	OTTHUMT00000331861.3	-	0.00	51	0	C	NM_004238		230656615	-1	tier1	-	no_errors	ENST00000283943	ensembl	human	known	74_37	missense	9.76	36	4	SNP	1.000	T
TRPM6	140803	genome.wustl.edu	37	9	77377554	77377554	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr9:77377554G>A	ENST00000360774.1	-	26	4270	c.4033C>T	c.(4033-4035)Ctt>Ttt	p.L1345F	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.L1340F|TRPM6_ENST00000449912.2_Missense_Mutation_p.L1340F|TRPM6_ENST00000451710.3_Missense_Mutation_p.L1345F|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.L1345F	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1345					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GGGACCAGAAGAAACTGGCCA	0.463																																																	0													168.0	177.0	174.0					9																	77377554		2203	4300	6503	SO:0001583	missense	0			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.4033C>T	9.37:g.77377554G>A	ENSP00000354006:p.Leu1345Phe		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.L1345F	ENST00000360774.1	37	c.4033	CCDS6647.1	9	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778445	0.49786	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.59083	0.37;0.37;0.38;0.38;0.29	5.8	4.91	0.64330	.	0.900293	0.09971	N	0.732186	T	0.66268	0.2772	L	0.36672	1.1	0.45946	D	0.998774	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.76575	0.973;0.974;0.988	T	0.56986	-0.7888	10	0.45353	T	0.12	.	9.1429	0.36914	0.2299:0.0:0.7701:0.0	.	1345;1340;1340	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	F	1345;1345;1340;1340;1345;1008;1008	ENSP00000354006:L1345F;ENSP00000407341:L1345F;ENSP00000396672:L1340F;ENSP00000354962:L1340F;ENSP00000366060:L1345F	ENSP00000309693:L1008F	L	-	1	0	TRPM6	76567374	1.000000	0.71417	0.997000	0.53966	0.222000	0.24845	3.090000	0.50191	1.464000	0.47987	0.655000	0.94253	CTT	TRPM6	-	NULL	ENSG00000119121		0.463	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	HGNC	protein_coding	OTTHUMT00000052693.1		0.00	19	0	G	NM_017662		77377554	-1			no_errors	ENST00000451710	ensembl	human	known	74_37	missense	15.00	17	3	SNP	0.998	A
TSPY10	100289087	genome.wustl.edu	37	Y	9368183	9368183	+	3'UTR	SNP	T	T	G			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chrY:9368183T>G	ENST00000428845.2	+	0	1059				TSPY10_ENST00000489397.1_3'UTR|TSPY10_ENST00000429039.1_3'UTR|TSPY10_ENST00000444056.1_3'UTR	NM_001282469.1	NP_001269398.1	P0CW01	TSPYA_HUMAN	testis specific protein, Y-linked 10						cell differentiation (GO:0030154)|gonadal mesoderm development (GO:0007506)|nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											CTCAGCATGGTCTTATGCACA	0.388																																																	0													17.0	28.0	27.0					Y																	9368183		150	778	928	SO:0001624	3_prime_UTR_variant	0				CCDS65365.1	Yp11.2	2010-07-28			ENSG00000236424	ENSG00000236424			37473	protein-coding gene	gene with protein product							Standard	NM_001282469		Approved			P0CW01	OTTHUMG00000041524	ENST00000428845.2:c.*86T>G	Y.37:g.9368183T>G				RNA	SNP	-	NULL	ENST00000428845.2	37	NULL		Y																																																																																			TSPY10	-	-	ENSG00000236424		0.388	TSPY10-001	KNOWN	basic|appris_candidate_longest	protein_coding	TSPY10	HGNC	protein_coding	OTTHUMT00000099482.1	-	0.00	142	0	T	XM_002344198		9368183	+1	tier1	-	no_errors	ENST00000489397	ensembl	human	known	74_37	rna	20.50	128	33	SNP	0.000	G
TXNDC2	84203	genome.wustl.edu	37	18	9887037	9887037	+	Silent	SNP	C	C	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr18:9887037C>T	ENST00000306084.6	+	2	760	c.561C>T	c.(559-561)atC>atT	p.I187I	TXNDC2_ENST00000357775.5_Silent_p.I120I|TXNDC2_ENST00000536353.2_Intron	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	187	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AAGAAACCATCCAATCCAAGA	0.572																																																	0													134.0	135.0	135.0					18																	9887037		2203	4300	6503	SO:0001819	synonymous_variant	0			AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.561C>T	18.37:g.9887037C>T			A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Silent	SNP	pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold	p.I187	ENST00000306084.6	37	c.561	CCDS42414.1	18																																																																																			TXNDC2	-	pfam_Glutenin	ENSG00000168454		0.572	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TXNDC2	HGNC	protein_coding	OTTHUMT00000254487.1	-	0.00	74	0	C			9887037	+1	tier1	-	no_errors	ENST00000306084	ensembl	human	known	74_37	silent	7.87	82	7	SNP	0.000	T
UGT1A6	54578	genome.wustl.edu	37	2	234602073	234602073	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr2:234602073G>C	ENST00000305139.6	+	1	562	c.423G>C	c.(421-423)gaG>gaC	p.E141D	UGT1A6_ENST00000373424.1_Intron|AC114812.8_ENST00000439336.1_RNA|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_5'Flank|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000344644.5_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	141					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	TCTTTAAGGAGAGCAAGTTTG	0.493																																																	0													113.0	93.0	99.0					2																	234602073		2203	4300	6503	SO:0001583	missense	0			M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.423G>C	2.37:g.234602073G>C	ENSP00000303174:p.Glu141Asp		A6NKK6|B8K289|Q96TE7	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.E141D	ENST00000305139.6	37	c.423	CCDS2507.1	2	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252061	0.22880	.	.	ENSG00000167165	ENST00000441351;ENST00000305139	T;T	0.06849	3.25;3.25	5.31	2.37	0.29283	.	.	.	.	.	T	0.08403	0.0209	L	0.42008	1.315	0.09310	N	1	B;B	0.21147	0.052;0.005	B;B	0.25291	0.059;0.03	T	0.31779	-0.9931	9	0.33141	T	0.24	.	8.2316	0.31601	0.3781:0.0:0.6219:0.0	.	141;141	B8K289;P19224	.;UD16_HUMAN	D	141	ENSP00000389637:E141D;ENSP00000303174:E141D	ENSP00000303174:E141D	E	+	3	2	UGT1A6	234266812	0.000000	0.05858	0.019000	0.16419	0.775000	0.43874	-0.188000	0.09642	0.824000	0.34613	-0.136000	0.14681	GAG	UGT1A6	-	pfam_UDP_glucos_trans	ENSG00000167165		0.493	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT1A6	HGNC	protein_coding	OTTHUMT00000130988.1	-	0.00	66	0	G	NM_205862		234602073	+1	tier1	-	no_errors	ENST00000305139	ensembl	human	known	74_37	missense	27.08	35	13	SNP	0.000	C
USP5	8078	genome.wustl.edu	37	12	6970267	6970267	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr12:6970267A>G	ENST00000229268.8	+	12	1547	c.1495A>G	c.(1495-1497)Aaa>Gaa	p.K499E	USP5_ENST00000541969.1_3'UTR|USP5_ENST00000389231.5_Missense_Mutation_p.K499E	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	499	USP.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						AGCCCTTAACAAAGGTAGGCT	0.577																																																	0													120.0	109.0	113.0					12																	6970267		2203	4300	6503	SO:0001583	missense	0			U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"""Ubiquitin-specific peptidases"""	12628	protein-coding gene	gene with protein product		601447	"""ubiquitin specific protease 5 (isopeptidase T)"""			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.1495A>G	12.37:g.6970267A>G	ENSP00000229268:p.Lys499Glu		D3DUS7|D3DUS8|Q96J22	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.K499E	ENST00000229268.8	37	c.1495	CCDS41743.1	12	.	.	.	.	.	.	.	.	.	.	A	24.6	4.545579	0.86022	.	.	ENSG00000111667	ENST00000229268;ENST00000389231	T;T	0.24538	1.85;1.85	5.04	5.04	0.67666	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.144617	0.64402	D	0.000007	T	0.31420	0.0796	L	0.45581	1.43	0.48511	D	0.999669	B;P	0.44521	0.387;0.837	P;P	0.48089	0.566;0.559	T	0.02150	-1.1205	10	0.26408	T	0.33	-3.8782	14.9451	0.71023	1.0:0.0:0.0:0.0	.	499;499	P45974;P45974-2	UBP5_HUMAN;.	E	499	ENSP00000229268:K499E;ENSP00000373883:K499E	ENSP00000229268:K499E	K	+	1	0	USP5	6840528	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.977000	0.63792	2.110000	0.64415	0.459000	0.35465	AAA	USP5	-	pfam_Peptidase_C19/C67,pirsf_Ubiquitinyl_hydrolase,pfscan_Peptidase_C19/C67	ENSG00000111667		0.577	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP5	HGNC	protein_coding	OTTHUMT00000402982.1	-	0.00	42	0	A			6970267	+1	tier1	-	no_errors	ENST00000229268	ensembl	human	known	74_37	missense	15.69	43	8	SNP	1.000	G
UTY	7404	genome.wustl.edu	37	Y	15591138	15591138	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chrY:15591138C>A	ENST00000331397.4	-	2	1219	c.212G>T	c.(211-213)gGc>gTc	p.G71V	UTY_ENST00000537580.1_Missense_Mutation_p.G71V|UTY_ENST00000329134.5_Missense_Mutation_p.G71V|UTY_ENST00000545955.1_Missense_Mutation_p.G71V|UTY_ENST00000474365.1_5'UTR|UTY_ENST00000382896.4_Missense_Mutation_p.G71V|UTY_ENST00000538878.1_Missense_Mutation_p.G71V|UTY_ENST00000382893.1_Missense_Mutation_p.G71V|UTY_ENST00000540140.1_Missense_Mutation_p.G71V|UTY_ENST00000362096.4_Missense_Mutation_p.G71V	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	71					regulation of gene expression (GO:0010468)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)			kidney(1)|lung(6)	7						TTTTACCTTGCCTAGTAGGGT	0.517																																					Colon(103;1740 2135 40732 45171)												0													66.0	72.0	70.0					Y																	15591138		593	1941	2534	SO:0001583	missense	0			AF000994	CCDS14783.1, CCDS14784.1, CCDS14785.1, CCDS59184.1, CCDS76073.1, CCDS76074.1, CCDS76075.1, CCDS76076.1, CCDS76077.1, CCDS76078.1, CCDS76079.1	Yq11.221	2013-11-04	2012-11-15		ENSG00000183878	ENSG00000183878		"""Tetratricopeptide (TTC) repeat domain containing"""	12638	protein-coding gene	gene with protein product		400009	"""ubiquitously transcribed tetratricopeptide repeat gene, Y chromosome"", ""ubiquitously transcribed tetratricopeptide repeat gene, Y-linked"""			8944031, 9499428	Standard	NM_182659		Approved	KDM6AL	uc022ckf.2	O14607	OTTHUMG00000036319	ENST00000331397.4:c.212G>T	Y.37:g.15591138C>A	ENSP00000328939:p.Gly71Val		A8K9Z3|E1U199|E1U1A0|F5H4V7|F8W8R7|O14608	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G71V	ENST00000331397.4	37	c.212	CCDS14783.1	Y																																																																																			UTY	-	NULL	ENSG00000183878		0.517	UTY-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UTY	HGNC	protein_coding	OTTHUMT00000088394.1	-	0.00	27	0	C	NM_182660		15591138	-1	tier1	-	no_errors	ENST00000382896	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	A
VAV1	7409	genome.wustl.edu	37	19	6833625	6833625	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr19:6833625G>A	ENST00000602142.1	+	17	1779	c.1697G>A	c.(1696-1698)cGa>cAa	p.R566Q	VAV1_ENST00000539284.1_Missense_Mutation_p.R469Q|VAV1_ENST00000599806.1_Missense_Mutation_p.R511Q|VAV1_ENST00000596764.1_Missense_Mutation_p.R534Q|VAV1_ENST00000304076.2_Missense_Mutation_p.R566Q	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	566					apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCATGTGGCCGACATGGGCAA	0.577																																																	0													146.0	127.0	133.0					19																	6833625		2203	4300	6503	SO:0001583	missense	0				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1697G>A	19.37:g.6833625G>A	ENSP00000472929:p.Arg566Gln		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin	p.R566Q	ENST00000602142.1	37	c.1697	CCDS12174.1	19	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162210	0.57368	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.76448	-0.07;-1.02	4.73	3.69	0.42338	.	0.221523	0.33772	N	0.004578	T	0.75817	0.3901	L	0.33485	1.01	0.46437	D	0.999047	D;D;D;D	0.71674	0.986;0.995;0.97;0.998	B;P;P;D	0.62955	0.423;0.722;0.708;0.909	T	0.70414	-0.4878	10	0.20519	T	0.43	.	7.8636	0.29524	0.1118:0.0:0.8882:0.0	.	469;566;511;566	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	Q	566;469	ENSP00000302269:R566Q;ENSP00000443242:R469Q	ENSP00000302269:R566Q	R	+	2	0	VAV1	6784625	1.000000	0.71417	0.738000	0.30950	0.267000	0.26476	3.931000	0.56529	2.199000	0.70637	0.491000	0.48974	CGA	VAV1	-	NULL	ENSG00000141968		0.577	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV1	HGNC	protein_coding	OTTHUMT00000458475.1	-	0.00	142	0	G			6833625	+1	tier1	-	no_errors	ENST00000602142	ensembl	human	known	74_37	missense	34.07	60	31	SNP	0.665	A
VCAN	1462	genome.wustl.edu	37	5	82838084	82838084	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr5:82838084C>T	ENST00000265077.3	+	8	9827	c.9262C>T	c.(9262-9264)Cca>Tca	p.P3088S	VCAN_ENST00000343200.5_Missense_Mutation_p.P2101S|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3088	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.P3088T(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AATCTATTTACCAGGTAAGAT	0.378																																																	1	Substitution - Missense(1)	large_intestine(1)											69.0	73.0	72.0					5																	82838084		2203	4300	6503	SO:0001583	missense	0			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9262C>T	5.37:g.82838084C>T	ENSP00000265077:p.Pro3088Ser		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.P3088S	ENST00000265077.3	37	c.9262	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	C	15.81	2.944595	0.53079	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	D;D	0.85955	-2.03;-2.05	5.9	2.59	0.31030	.	0.215254	0.33005	N	0.005390	T	0.68430	0.3000	N	0.24115	0.695	0.80722	D	1	P;P	0.44429	0.532;0.835	B;B	0.35073	0.19;0.195	T	0.64118	-0.6482	10	0.41790	T	0.15	.	5.1051	0.14779	0.1291:0.6122:0.1262:0.1326	.	2101;3088	P13611-2;P13611	.;CSPG2_HUMAN	S	3088;2101	ENSP00000265077:P3088S;ENSP00000340062:P2101S	ENSP00000265077:P3088S	P	+	1	0	VCAN	82873840	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	0.960000	0.29253	0.769000	0.33313	0.563000	0.77884	CCA	VCAN	-	NULL	ENSG00000038427		0.378	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3		0.00	19	0	C	NM_004385		82838084	+1			no_errors	ENST00000265077	ensembl	human	known	74_37	missense	15.38	11	2	SNP	1.000	T
VPS16	64601	genome.wustl.edu	37	20	2846872	2846872	+	Silent	SNP	C	C	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr20:2846872C>T	ENST00000380445.3	+	23	2358	c.2286C>T	c.(2284-2286)atC>atT	p.I762I	VPS16_ENST00000380469.3_Silent_p.I618I|VPS16_ENST00000380443.3_Silent_p.I448I|PTPRA_ENST00000380393.3_Intron	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	762					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						TTGTGGAGATCTGCATGAAAC	0.522																																																	0													111.0	94.0	100.0					20																	2846872		2203	4300	6503	SO:0001819	synonymous_variant	0			AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.2286C>T	20.37:g.2846872C>T			Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Silent	SNP	pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16	p.I762	ENST00000380445.3	37	c.2286	CCDS13036.1	20																																																																																			VPS16	-	pfam_Vps16_C,pirsf_VPS16	ENSG00000215305		0.522	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS16	HGNC	protein_coding	OTTHUMT00000077658.2	-	0.00	116	0	C	NM_022575		2846872	+1	tier1	-	no_errors	ENST00000380445	ensembl	human	known	74_37	silent	11.25	71	9	SNP	1.000	T
VPS39	23339	genome.wustl.edu	37	15	42470518	42470518	+	Silent	SNP	C	C	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr15:42470518C>A	ENST00000348544.4	-	11	890	c.891G>T	c.(889-891)gtG>gtT	p.V297V	VPS39_ENST00000318006.5_Silent_p.V286V			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	297					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		GATTGCTGGCCACATAGATAA	0.423																																																	0													110.0	108.0	109.0					15																	42470518		2203	4299	6502	SO:0001819	synonymous_variant	0			AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"""vacuolar protein sorting 39 (yeast)"""			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.891G>T	15.37:g.42470518C>A			O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Silent	SNP	pfam_Citron,pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,smart_Citron	p.V297	ENST00000348544.4	37	c.891	CCDS10083.1	15																																																																																			VPS39	-	smart_Citron	ENSG00000166887		0.423	VPS39-002	KNOWN	basic|CCDS	protein_coding	VPS39	HGNC	protein_coding	OTTHUMT00000420472.1	-	0.00	32	0	C	NM_015289		42470518	-1	tier1	-	no_errors	ENST00000348544	ensembl	human	known	74_37	silent	38.10	13	8	SNP	1.000	A
WDFY2	115825	genome.wustl.edu	37	13	52333896	52333896	+	Silent	SNP	C	C	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr13:52333896C>T	ENST00000298125.5	+	12	1374	c.1194C>T	c.(1192-1194)gtC>gtT	p.V398V		NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	398							metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		TGACCCCAGTCGTGTCTTGAT	0.373																																																	0													65.0	64.0	64.0					13																	52333896		2203	4300	6503	SO:0001819	synonymous_variant	0			AF411978	CCDS9429.1	13q14.12	2013-01-09	2003-03-13		ENSG00000139668	ENSG00000139668		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20482	protein-coding gene	gene with protein product		610418	"""WD40 and FYVE domain containing 2"""				Standard	NM_052950		Approved	ZFYVE22	uc001vfp.3	Q96P53	OTTHUMG00000017407	ENST00000298125.5:c.1194C>T	13.37:g.52333896C>T			B1AL86|Q96CS1	Silent	SNP	pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.V398	ENST00000298125.5	37	c.1194	CCDS9429.1	13																																																																																			WDFY2	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000139668		0.373	WDFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY2	HGNC	protein_coding	OTTHUMT00000045985.3		0.00	52	0	C	NM_052950		52333896	+1			no_errors	ENST00000298125	ensembl	human	known	74_37	silent	11.54	23	3	SNP	0.002	T
WDR26	80232	genome.wustl.edu	37	1	224581656	224581656	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:224581656G>T	ENST00000414423.2	-	13	2027	c.1834C>A	c.(1834-1836)Cac>Aac	p.H612N	WDR26_ENST00000295024.6_Missense_Mutation_p.H465N|WDR26_ENST00000366852.2_3'UTR	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	612						cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		GTACGTGTGTGCCCTGTCAGC	0.448																																																	0													132.0	110.0	117.0					1																	224581656		2203	4300	6503	SO:0001583	missense	0			AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"""WD repeat domain containing"""	21208	protein-coding gene	gene with protein product	"""GID complex subunit 7 homolog (S. cerevisiae)"""						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.1834C>A	1.37:g.224581656G>T	ENSP00000408108:p.His612Asn		A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H612N	ENST00000414423.2	37	c.1834	CCDS31037.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.328761|5.328761	0.95733|0.95733	.|.	.|.	ENSG00000162923|ENSG00000162923	ENST00000480676|ENST00000414423;ENST00000295024	.|T;T	.|0.81078	.|-1.45;-1.45	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92299|0.92299	0.7557|0.7557	M|M	0.92604|0.92604	3.325|3.325	0.80722|0.80722	D|D	1|1	.|D	.|0.69078	.|0.997	.|D	.|0.68039	.|0.955	D|D	0.93351|0.93351	0.6718|0.6718	5|10	.|0.87932	.|D	.|0	.|.	20.1649|20.1649	0.98147|0.98147	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|596	.|Q9H7D7-2	.|.	E|N	245|612;465	.|ENSP00000408108:H612N;ENSP00000295024:H465N	.|ENSP00000295024:H465N	A|H	-|-	2|1	0|0	WDR26|WDR26	222648279|222648279	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.031000|8.031000	0.88826|0.88826	2.753000|2.753000	0.94483|0.94483	0.655000|0.655000	0.94253|0.94253	GCA|CAC	WDR26	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000162923		0.448	WDR26-001	KNOWN	basic|CCDS	protein_coding	WDR26	HGNC	protein_coding	OTTHUMT00000091760.2	-	0.00	53	0	G	NM_025160		224581656	-1	tier1	-	no_errors	ENST00000414423	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T
XIRP2	129446	genome.wustl.edu	37	2	168099825	168099825	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr2:168099825G>T	ENST00000409195.1	+	9	2012	c.1923G>T	c.(1921-1923)gaG>gaT	p.E641D	XIRP2_ENST00000409273.1_Missense_Mutation_p.E419D|XIRP2_ENST00000295237.9_Missense_Mutation_p.E641D|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	466					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAAATGCAGAGAAAATTCCTG	0.433																																																	0													61.0	63.0	62.0					2																	168099825		1914	4113	6027	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.1923G>T	2.37:g.168099825G>T	ENSP00000386840:p.Glu641Asp		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.E641D	ENST00000409195.1	37	c.1923	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	G	11.92	1.781906	0.31502	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02837	4.14;4.14;4.14	5.93	-0.885	0.10593	.	0.430804	0.26007	N	0.026919	T	0.02455	0.0075	L	0.32530	0.975	0.32242	N	0.57262	B;B;B	0.12013	0.005;0.002;0.004	B;B;B	0.12156	0.007;0.004;0.004	T	0.24764	-1.0151	10	0.34782	T	0.22	-6.778	9.8717	0.41177	0.204:0.5551:0.2409:0.0	.	466;466;419	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	D	641;641;419	ENSP00000386840:E641D;ENSP00000295237:E641D;ENSP00000387255:E419D	ENSP00000295237:E641D	E	+	3	2	XIRP2	167808071	0.452000	0.25713	0.998000	0.56505	0.979000	0.70002	0.451000	0.21779	0.073000	0.16731	0.655000	0.94253	GAG	XIRP2	-	NULL	ENSG00000163092		0.433	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1		0.00	63	0	G	NM_152381		168099825	+1			no_errors	ENST00000295237	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.771	T
XYLT1	64131	genome.wustl.edu	37	16	17202585	17202585	+	Silent	SNP	C	C	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr16:17202585C>T	ENST00000261381.6	-	12	2931	c.2847G>A	c.(2845-2847)ctG>ctA	p.L949L		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	949					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGACTGCCCCCAGCTCCGACT	0.662																																																	0													23.0	21.0	22.0					16																	17202585		2196	4300	6496	SO:0001819	synonymous_variant	0			AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2847G>A	16.37:g.17202585C>T			Q9H1B6	Silent	SNP	pfam_XylT,pfam_Glyco_trans_14	p.L949	ENST00000261381.6	37	c.2847	CCDS10569.1	16																																																																																			XYLT1	-	NULL	ENSG00000103489		0.662	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLT1	HGNC	protein_coding	OTTHUMT00000252241.2	-	0.00	25	0	C	NM_022166		17202585	-1	tier1	-	no_errors	ENST00000261381	ensembl	human	known	74_37	silent	15.62	27	5	SNP	1.000	T
ZBTB16	7704	genome.wustl.edu	37	11	114027093	114027093	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr11:114027093G>A	ENST00000335953.4	+	3	1683	c.1303G>A	c.(1303-1305)Gag>Aag	p.E435K	ZBTB16_ENST00000392996.2_Missense_Mutation_p.E435K	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	435					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GTACGGGTGCGAGCTCTGCGG	0.557																																																	0													162.0	121.0	135.0					11																	114027093		2201	4296	6497	SO:0001583	missense	0			Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.1303G>A	11.37:g.114027093G>A	ENSP00000338157:p.Glu435Lys		Q8TAL4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E435K	ENST00000335953.4	37	c.1303	CCDS8367.1	11	.	.	.	.	.	.	.	.	.	.	G	19.89	3.911164	0.72983	.	.	ENSG00000109906	ENST00000335953;ENST00000392996;ENST00000310883	T;T	0.15256	2.44;2.44	4.81	4.81	0.61882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.29126	0.0724	L	0.35288	1.05	0.54753	D	0.999986	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.995	T	0.02646	-1.1129	10	0.11182	T	0.66	-16.5878	18.0741	0.89422	0.0:0.0:1.0:0.0	.	435;440	Q05516;Q59H43	ZBT16_HUMAN;.	K	435;435;312	ENSP00000338157:E435K;ENSP00000376721:E435K	ENSP00000309507:E312K	E	+	1	0	ZBTB16	113532303	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.202000	0.95026	2.500000	0.84329	0.655000	0.94253	GAG	ZBTB16	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000109906		0.557	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB16	HGNC	protein_coding	OTTHUMT00000398940.1	-	0.00	91	0	G	NM_006006		114027093	+1	tier1	-	no_errors	ENST00000335953	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	A
ZBTB7B	51043	genome.wustl.edu	37	1	154975307	154975307	+	Intron	SNP	C	C	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:154975307C>T	ENST00000368426.3	+	2	30				ZBTB7B_ENST00000417934.2_5'UTR|ZBTB7B_ENST00000535420.1_Intron|ZBTB7B_ENST00000487542.1_3'UTR	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B						cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTGACCGCGGCCTTCTGACCA	0.746																																																	0																																										SO:0001627	intron_variant	0			AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.-107-12C>T	1.37:g.154975307C>T			B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	RNA	SNP	-	NULL	ENST00000368426.3	37	NULL	CCDS1081.1	1																																																																																			ZBTB7B	-	-	ENSG00000160685		0.746	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB7B	HGNC	protein_coding	OTTHUMT00000091083.1	-	0.00	27	0	C	NM_015872		154975307	+1	tier1	-	no_errors	ENST00000487542	ensembl	human	known	74_37	rna	19.05	17	4	SNP	1.000	T
ZDHHC11	79844	genome.wustl.edu	37	5	712139	712139	+	Intron	SNP	T	T	A	rs111351502	byFrequency	TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr5:712139T>A	ENST00000424784.2	-	14	1931				ZDHHC11B_ENST00000508859.2_3'UTR|ZDHHC11B_ENST00000522356.1_5'UTR			Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GCAGCCCATCTTCCTGGAGAT	0.562													t|||	2442	0.48762	0.5522	0.4683	5008	,	,		24038	0.5248		0.4911	False		,,,				2504	0.3722																0																																										SO:0001627	intron_variant	0			AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000424784.2:c.1237-1140A>T	5.37:g.712139T>A			Q6UWR9	RNA	SNP	-	NULL	ENST00000424784.2	37	NULL	CCDS3857.1	5																																																																																			ZDHHC11B	-	-	ENSG00000206077		0.562	ZDHHC11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC11B	HGNC	protein_coding		-	0.00	26	0	T	NM_024786		712139	-1	tier1	rs111351502	no_errors	ENST00000522356	ensembl	human	known	74_37	rna	27.27	8	3	SNP	0.000	A
ZFP42	132625	genome.wustl.edu	37	4	188924012	188924012	+	Silent	SNP	G	G	T			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr4:188924012G>T	ENST00000326866.4	+	4	459	c.51G>T	c.(49-51)ctG>ctT	p.L17L	ZFP42_ENST00000509524.1_Silent_p.L17L	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	17					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AGAAAGGCCTGGGTGGAAGAG	0.547																																																	0													68.0	72.0	71.0					4																	188924012		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.51G>T	4.37:g.188924012G>T			D3DP65|Q8WXE2	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L17	ENST00000326866.4	37	c.51	CCDS3849.1	4																																																																																			ZFP42	-	NULL	ENSG00000179059		0.547	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP42	HGNC	protein_coding	OTTHUMT00000359794.1	-	0.00	53	0	G	NM_174900		188924012	+1	tier1	-	no_errors	ENST00000326866	ensembl	human	known	74_37	silent	24.53	40	13	SNP	0.000	T
ZNF324	25799	genome.wustl.edu	37	19	58983245	58983245	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr19:58983245C>A	ENST00000536459.2	+	4	2095	c.1386C>A	c.(1384-1386)ttC>ttA	p.F462L	ZNF324_ENST00000535298.1_Missense_Mutation_p.F239L|ZNF446_ENST00000596341.1_5'Flank|ZNF324_ENST00000196482.3_Missense_Mutation_p.F462L			O75467	Z324A_HUMAN	zinc finger protein 324	462					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(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GCAAGGCCTTCGCCAAGGGCG	0.701																																																	0													36.0	37.0	37.0					19																	58983245		2203	4298	6501	SO:0001583	missense	0			AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"""Zinc fingers, C2H2-type"", ""-"""	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.1386C>A	19.37:g.58983245C>A	ENSP00000444812:p.Phe462Leu		B3KRX1	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.F462L	ENST00000536459.2	37	c.1386	CCDS12981.1	19	.	.	.	.	.	.	.	.	.	.	C	13.93	2.382692	0.42207	.	.	ENSG00000083812	ENST00000196482;ENST00000536459;ENST00000539101;ENST00000535298	T;T;T	0.46063	0.88;0.88;0.88	3.84	-2.82	0.05787	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41712	D	0.000825	T	0.60521	0.2275	M	0.88570	2.965	0.18873	N	0.999982	D	0.89917	1.0	D	0.97110	1.0	T	0.53265	-0.8463	10	0.87932	D	0	.	6.4179	0.21728	0.0:0.1857:0.1536:0.6606	.	462	O75467	Z324A_HUMAN	L	462;462;452;239	ENSP00000196482:F462L;ENSP00000444812:F462L;ENSP00000439588:F239L	ENSP00000196482:F462L	F	+	3	2	ZNF324	63675057	0.000000	0.05858	0.952000	0.39060	0.226000	0.24999	-0.686000	0.05161	-0.469000	0.06911	-0.537000	0.04273	TTC	ZNF324	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000083812		0.701	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF324	HGNC	protein_coding	OTTHUMT00000467044.1	-	0.00	50	0	C	NM_014347		58983245	+1	tier1	-	no_errors	ENST00000196482	ensembl	human	known	74_37	missense	13.89	31	5	SNP	0.097	A
ZNF337	26152	genome.wustl.edu	37	20	25657230	25657231	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr20:25657230_25657231insTG	ENST00000376436.1	-	4	1232_1233	c.693_694insCA	c.(691-696)acaggafs	p.G232fs	RP4-694B14.5_ENST00000428254.1_RNA|ZNF337_ENST00000252979.5_Frame_Shift_Ins_p.G232fs|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000421829.1_RNA|ZNF337_ENST00000538750.1_Frame_Shift_Ins_p.G200fs|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	232					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GACTTCTCTCCTGTGTGTGTGT	0.505																																																	0																																										SO:0001589	frameshift_variant	0				CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.692_693dupCA	20.37:g.25657239_25657240dupTG	ENSP00000365619:p.Gly232fs		B4DSM2|Q9Y3Y5	Frame_Shift_Ins	INS	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.G231fs	ENST00000376436.1	37	c.694_693	CCDS13174.1	20																																																																																			ZNF337	-	pfscan_Znf_C2H2	ENSG00000130684		0.505	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF337	HGNC	protein_coding	OTTHUMT00000078454.1		0.00	70	0	-			25657231	-1	tier1		no_errors	ENST00000252979	ensembl	human	known	74_37	frame_shift_ins	12.77	82	12	INS	0.950:0.945	TG
ZNF609	23060	genome.wustl.edu	37	15	64966881	64966881	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr15:64966881G>C	ENST00000326648.3	+	4	1956	c.1828G>C	c.(1828-1830)Gat>Cat	p.D610H	ZNF609_ENST00000559364.1_3'UTR	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	610						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGATGGCTCTGATGATGGACC	0.423																																																	0													58.0	59.0	59.0					15																	64966881		2203	4299	6502	SO:0001583	missense	0			BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.1828G>C	15.37:g.64966881G>C	ENSP00000316527:p.Asp610His		Q0D2I2	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.D610H	ENST00000326648.3	37	c.1828	CCDS32270.1	15	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308374	0.40895	.	.	ENSG00000180357	ENST00000326648	T	0.43688	0.94	5.77	5.77	0.91146	.	0.087685	0.85682	D	0.000000	T	0.29028	0.0721	N	0.08118	0	0.49213	D	0.999767	P	0.35656	0.514	B	0.34779	0.189	T	0.14783	-1.0460	10	0.46703	T	0.11	-13.6147	19.9915	0.97366	0.0:0.0:1.0:0.0	.	610	O15014	ZN609_HUMAN	H	610	ENSP00000316527:D610H	ENSP00000316527:D610H	D	+	1	0	ZNF609	62753934	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.622000	0.74233	2.723000	0.93209	0.655000	0.94253	GAT	ZNF609	-	NULL	ENSG00000180357		0.423	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF609	HGNC	protein_coding	OTTHUMT00000418130.1		0.00	15	0	G	XM_042833		64966881	+1			no_errors	ENST00000326648	ensembl	human	known	74_37	missense	17.65	14	3	SNP	1.000	C
ZNF644	84146	genome.wustl.edu	37	1	91406272	91406272	+	Silent	SNP	C	C	T	rs141502892	byFrequency	TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:91406272C>T	ENST00000370440.1	-	3	856	c.639G>A	c.(637-639)aaG>aaA	p.K213K	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Silent_p.K213K|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	213					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(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TGCCATCTGACTTTATATTAC	0.388													C|||	2	0.000399361	0.0	0.0014	5008	,	,		20276	0.0		0.001	False		,,,				2504	0.0																0								C	,,	0,4406		0,0,2203	156.0	164.0	161.0		,,639	5.1	1.0	1	dbSNP_134	161	13,8587	10.5+/-38.8	0,13,4287	no	intron,intron,coding-synonymous	ZNF644	NM_016620.3,NM_032186.4,NM_201269.2	,,	0,13,6490	TT,TC,CC		0.1512,0.0,0.1	,,	,,213/1328	91406272	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	0			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.639G>A	1.37:g.91406272C>T			A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K213	ENST00000370440.1	37	c.639	CCDS731.1	1																																																																																			ZNF644	-	NULL	ENSG00000122482		0.388	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF644	HGNC	protein_coding	OTTHUMT00000027846.2		0.00	52	0	C	NM_032186		91406272	-1			no_errors	ENST00000337393	ensembl	human	known	74_37	silent	5.88	47	3	SNP	1.000	T
ZNF750	79755	genome.wustl.edu	37	17	80790319	80790320	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr17:80790319_80790320insAA	ENST00000269394.3	-	2	844_845	c.11_12insTT	c.(10-12)ctcfs	p.L4fs	ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	4					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TCCGCTCTTTGAGGAGACTCAT	0.5																																																	0																																										SO:0001589	frameshift_variant	0			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.11_12insTT	17.37:g.80790319_80790320insAA	ENSP00000269394:p.Leu4fs		Q9H899	Frame_Shift_Ins	INS	NULL	p.K5fs	ENST00000269394.3	37	c.12_11	CCDS11819.1	17																																																																																			ZNF750	-	NULL	ENSG00000141579		0.500	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF750	HGNC	protein_coding	OTTHUMT00000439074.2		0.00	121	0	-	NM_024702		80790320	-1	tier1		no_errors	ENST00000269394	ensembl	human	known	74_37	frame_shift_ins	27.66	68	26	INS	0.970:0.933	AA
ZSCAN1	284312	genome.wustl.edu	37	19	58565137	58565137	+	Silent	SNP	C	C	T	rs370513764		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr19:58565137C>T	ENST00000282326.1	+	6	1192	c.945C>T	c.(943-945)cgC>cgT	p.R315R		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	315					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGACCCATCGCGAGGAAGGGC	0.642																																																	0								C		1,4405		0,1,2202	70.0	62.0	64.0		945	-1.5	0.0	19		64	0,8600		0,0,4300	no	coding-synonymous	ZSCAN1	NM_182572.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		315/409	58565137	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.945C>T	19.37:g.58565137C>T			Q3B798|Q6WLH8|Q86WS8	Silent	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R315	ENST00000282326.1	37	c.945	CCDS12969.1	19																																																																																			ZSCAN1	-	pfscan_Znf_C2H2	ENSG00000152467		0.642	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN1	HGNC	protein_coding	OTTHUMT00000466427.1	-	0.00	42	0	C	NM_182572		58565137	+1	tier1	-	no_errors	ENST00000282326	ensembl	human	known	74_37	silent	24.00	19	6	SNP	0.023	T
