#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
ABCA1	19	genome.wustl.edu	37	9	107554264	107554264	+	Missense_Mutation	SNP	G	G	A	rs568280586		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr9:107554264G>A	ENST00000374736.3	-	43	6167	c.5773C>T	c.(5773-5775)Cgg>Tgg	p.R1925W		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1925	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.		R -> Q (in Scott syndrome; shows impaired trafficking of the mutant protein to the plasma membrane; dbSNP:rs142688906). {ECO:0000269|PubMed:15790791}.		apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	GCAGGCTTCCGCTTCCTTCTA	0.438																																																	0													89.0	76.0	81.0					9																	107554264		2203	4300	6503	SO:0001583	missense	0			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.5773C>T	9.37:g.107554264G>A	ENSP00000363868:p.Arg1925Trp		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R1925W	ENST00000374736.3	37	c.5773	CCDS6762.1	9	.	.	.	.	.	.	.	.	.	.	G	19.87	3.906692	0.72868	.	.	ENSG00000165029	ENST00000374736	D	0.93659	-3.26	5.82	3.47	0.39725	ABC transporter-like (1);	0.150978	0.64402	D	0.000009	D	0.94601	0.8260	M	0.73962	2.25	0.80722	D	1	D	0.69078	0.997	P	0.51657	0.676	D	0.94066	0.7331	10	0.87932	D	0	.	15.4424	0.75195	0.0:0.0:0.5703:0.4297	.	1925	O95477	ABCA1_HUMAN	W	1925	ENSP00000363868:R1925W	ENSP00000363868:R1925W	R	-	1	2	ABCA1	106594085	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.154000	0.31688	0.465000	0.27167	-0.397000	0.06425	CGG	ABCA1	-	superfamily_P-loop_NTPase,pfscan_ABC_transporter-like	ENSG00000165029		0.438	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	HGNC	protein_coding	OTTHUMT00000053491.1	-	0.00	25	0	G	NM_005502		107554264	-1	tier1	-	no_errors	ENST00000374736	ensembl	human	known	74_37	missense	83.33	4	20	SNP	1.000	A
ABCA13	154664	genome.wustl.edu	37	7	48259050	48259050	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr7:48259050G>A	ENST00000435803.1	+	4	411	c.387G>A	c.(385-387)atG>atA	p.M129I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	129					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATGGAATGATGGACAAGGCAA	0.428																																																	0													117.0	111.0	113.0					7																	48259050		1856	4100	5956	SO:0001583	missense	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.387G>A	7.37:g.48259050G>A	ENSP00000411096:p.Met129Ile		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.M129I	ENST00000435803.1	37	c.387	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059672	0.36373	.	.	ENSG00000179869	ENST00000435803	D	0.85629	-2.01	5.58	4.68	0.58851	.	0.499030	0.18142	N	0.150374	T	0.80160	0.4572	L	0.56769	1.78	0.80722	D	1	B;P	0.39022	0.278;0.655	B;B	0.31191	0.051;0.125	T	0.79685	-0.1700	10	0.48119	T	0.1	.	11.9014	0.52687	0.0:0.0:0.814:0.1859	.	129;129	Q86UQ4;Q86UQ4-2	ABCAD_HUMAN;.	I	129	ENSP00000411096:M129I	ENSP00000409268:M129I	M	+	3	0	ABCA13	48229596	0.975000	0.34042	0.846000	0.33378	0.319000	0.28217	1.549000	0.36212	1.447000	0.47661	0.655000	0.94253	ATG	ABCA13	-	NULL	ENSG00000179869		0.428	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	-	0.00	94	0	G	NM_152701		48259050	+1	tier1	-	no_errors	ENST00000435803	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.983	A
ABCA13	154664	genome.wustl.edu	37	7	48654945	48654945	+	Missense_Mutation	SNP	C	C	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr7:48654945C>A	ENST00000435803.1	+	59	14833	c.14809C>A	c.(14809-14811)Ctt>Att	p.L4937I	ABCA13_ENST00000544596.1_Missense_Mutation_p.L667I	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4937	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTTCAAATGTCTTGGTTCTCC	0.408																																																	0													87.0	88.0	88.0					7																	48654945		1924	4142	6066	SO:0001583	missense	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.14809C>A	7.37:g.48654945C>A	ENSP00000411096:p.Leu4937Ile		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L4937I	ENST00000435803.1	37	c.14809	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026793	0.54683	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.98296	-4.85;-4.85;-4.85	5.99	5.11	0.69529	ABC transporter-like (1);	0.000000	0.45867	D	0.000329	D	0.95023	0.8389	N	0.03238	-0.38	0.47037	D	0.999299	B;P;B	0.48089	0.079;0.905;0.287	B;P;B	0.49752	0.029;0.621;0.162	D	0.95090	0.8221	10	0.32370	T	0.25	.	15.1816	0.72962	0.0:0.8584:0.1416:0.0	.	667;2639;4937	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	I	4937;710;667	ENSP00000411096:L4937I;ENSP00000391042:L710I;ENSP00000442634:L667I	ENSP00000391042:L710I	L	+	1	0	ABCA13	48625491	1.000000	0.71417	0.950000	0.38849	0.903000	0.53119	4.278000	0.58946	1.538000	0.49270	-0.150000	0.13652	CTT	ABCA13	-	superfamily_P-loop_NTPase,pfscan_ABC_transporter-like	ENSG00000179869		0.408	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	-	0.00	74	0	C	NM_152701		48654945	+1	tier1	-	no_errors	ENST00000435803	ensembl	human	known	74_37	missense	25.00	39	13	SNP	1.000	A
ACACA	31	genome.wustl.edu	37	17	35633933	35633933	+	Silent	SNP	G	G	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr17:35633933G>T	ENST00000394406.2	-	7	874	c.684C>A	c.(682-684)gcC>gcA	p.A228A	ACACA_ENST00000353139.5_Silent_p.A265A|ACACA_ENST00000335166.5_Silent_p.A150A|ACACA_ENST00000360679.3_Silent_p.A170A	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	228	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TACCCATGAAGGCAATGCCAT	0.408																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)												0													140.0	139.0	139.0					17																	35633933		2203	4300	6503	SO:0001819	synonymous_variant	0			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.684C>A	17.37:g.35633933G>T			B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.A265	ENST00000394406.2	37	c.795	CCDS11317.1	17																																																																																			ACACA	-	pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_dom,pfscan_Biotin_carboxylation_dom	ENSG00000132142		0.408	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	-	0.00	80	0	G	NM_198836		35633933	-1	tier1	-	no_errors	ENST00000353139	ensembl	human	known	74_37	silent	48.65	19	18	SNP	1.000	T
ABCA6	23460	genome.wustl.edu	37	17	67080613	67080613	+	Missense_Mutation	SNP	T	T	C			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr17:67080613T>C	ENST00000284425.2	-	33	4394	c.4220A>G	c.(4219-4221)aAt>aGt	p.N1407S	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1407	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CACAGGAACATTCAGCTGCTC	0.453																																																	0													291.0	251.0	265.0					17																	67080613		2203	4300	6503	SO:0001583	missense	0			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.4220A>G	17.37:g.67080613T>C	ENSP00000284425:p.Asn1407Ser		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.N1407S	ENST00000284425.2	37	c.4220	CCDS11683.1	17	.	.	.	.	.	.	.	.	.	.	T	13.57	2.275502	0.40294	.	.	ENSG00000154262	ENST00000284425;ENST00000446604	T	0.14144	2.53	5.7	5.7	0.88788	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.229315	0.30142	N	0.010302	T	0.15565	0.0375	L	0.41415	1.275	0.80722	D	1	B	0.19073	0.033	B	0.32928	0.155	T	0.04165	-1.0972	10	0.59425	D	0.04	.	11.0931	0.48128	0.0:0.0741:0.0:0.9259	.	1407	Q8N139	ABCA6_HUMAN	S	1407;267	ENSP00000284425:N1407S	ENSP00000284425:N1407S	N	-	2	0	ABCA6	64592208	0.724000	0.28038	0.045000	0.18777	0.769000	0.43574	5.082000	0.64450	2.171000	0.68590	0.533000	0.62120	AAT	ABCA6	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000154262		0.453	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	HGNC	protein_coding	OTTHUMT00000450463.1	-	0.00	35	0	T	NM_080284		67080613	-1	tier1	-	no_errors	ENST00000284425	ensembl	human	known	74_37	missense	25.00	12	4	SNP	0.222	C
ACAD9	28976	genome.wustl.edu	37	3	128616490	128616490	+	Silent	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr3:128616490C>T	ENST00000308982.7	+	6	651	c.570C>T	c.(568-570)gcC>gcT	p.A190A		NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	190						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						GCGATGCAGCCTCAATCCGGA	0.488																																																	0													140.0	100.0	113.0					3																	128616490		2203	4300	6503	SO:0001819	synonymous_variant	0			AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"""Mitochondrial respiratory chain complex assembly factors"""	21497	protein-coding gene	gene with protein product		611103	"""acyl-Coenzyme A dehydrogenase family, member 9"""			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.570C>T	3.37:g.128616490C>T			D3DNB8|Q8WXX3	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.A190	ENST00000308982.7	37	c.570	CCDS3053.1	3																																																																																			ACAD9	-	pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom	ENSG00000177646		0.488	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD9	HGNC	protein_coding	OTTHUMT00000358405.1	-	0.00	58	0	C	NM_014049		128616490	+1	tier1	-	no_errors	ENST00000308982	ensembl	human	known	74_37	silent	16.36	46	9	SNP	0.908	T
ACCSL	390110	genome.wustl.edu	37	11	44073269	44073269	+	Splice_Site	SNP	G	G	A	rs199907490		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr11:44073269G>A	ENST00000378832.1	+	5	828	c.772G>A	c.(772-774)Gag>Aag	p.E258K		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	258					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						TGATCCAGGCGGTAAGTCAGT	0.507																																																	0													254.0	241.0	245.0					11																	44073269		2077	4215	6292	SO:0001630	splice_region_variant	0				CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.772+1G>A	11.37:g.44073269G>A				Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.E258K	ENST00000378832.1	37	c.772	CCDS41636.1	11	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344133	0.41498	.	.	ENSG00000205126	ENST00000378832	T	0.22743	1.94	4.75	3.83	0.44106	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.276195	0.41001	N	0.000969	T	0.39118	0.1066	M	0.92970	3.365	0.40856	D	0.983791	P	0.44659	0.84	P	0.45343	0.477	T	0.53287	-0.8460	10	0.72032	D	0.01	-3.4901	10.9375	0.47253	0.0918:0.0:0.9082:0.0	.	258	Q4AC99	1A1L2_HUMAN	K	258	ENSP00000368109:E258K	ENSP00000368109:E258K	E	+	1	0	ACCSL	44029845	1.000000	0.71417	0.847000	0.33407	0.313000	0.28021	7.516000	0.81772	1.211000	0.43351	0.655000	0.94253	GAG	ACCSL	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	ENSG00000205126		0.507	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACCSL	HGNC	protein_coding	OTTHUMT00000389717.1	-	0.00	34	0	G	NM_001031854	Missense_Mutation	44073269	+1	tier1	rs199907490	no_errors	ENST00000378832	ensembl	human	known	74_37	missense	25.00	18	6	SNP	0.996	A
ACTA2	59	genome.wustl.edu	37	10	90703631	90703631	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr10:90703631C>T	ENST00000458208.1	-	4	766	c.292G>A	c.(292-294)Gtt>Att	p.V98I	ACTA2_ENST00000224784.6_Missense_Mutation_p.V98I|ACTA2_ENST00000480297.1_5'UTR|STAMBPL1_ENST00000371927.3_Intron	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	98					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)		TCAGGGGCAACACGAAGCTCA	0.527																																																	0													126.0	113.0	117.0					10																	90703631		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.292G>A	10.37:g.90703631C>T	ENSP00000402373:p.Val98Ile		B2R8A4|P03996|P04108|Q6FI19	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.V98I	ENST00000458208.1	37	c.292	CCDS7392.1	10	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331674	0.60853	.	.	ENSG00000107796	ENST00000224784;ENST00000458208;ENST00000544901;ENST00000415557;ENST00000458159	D;D;D;D	0.97303	-4.33;-4.33;-3.61;-3.61	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.95893	0.8663	L	0.54908	1.71	0.58432	D	0.999996	B;B	0.11235	0.004;0.0	B;B	0.17433	0.011;0.018	D	0.92487	0.5997	10	0.87932	D	0	.	18.7423	0.91779	0.0:1.0:0.0:0.0	.	98;98	B7Z6I1;P62736	.;ACTA_HUMAN	I	98;98;53;98;98	ENSP00000224784:V98I;ENSP00000402373:V98I;ENSP00000396730:V98I;ENSP00000398239:V98I	ENSP00000224784:V98I	V	-	1	0	ACTA2	90693611	1.000000	0.71417	0.985000	0.45067	0.931000	0.56810	7.818000	0.86416	2.773000	0.95371	0.655000	0.94253	GTT	ACTA2	-	pfam_Actin-related,smart_Actin-related	ENSG00000107796		0.527	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTA2	HGNC	protein_coding	OTTHUMT00000049264.1		0.00	61	0	C	NM_001613		90703631	-1			no_errors	ENST00000224784	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	T
ADAM18	8749	genome.wustl.edu	37	8	39534972	39534972	+	Silent	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr8:39534972C>T	ENST00000265707.5	+	15	1593	c.1548C>T	c.(1546-1548)gcC>gcT	p.A516A	ADAM18_ENST00000379866.1_Silent_p.A492A|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	516	Cys-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CTCCATTTGCCTGTTTTAAAG	0.323																																																	0													84.0	83.0	83.0					8																	39534972		2203	4299	6502	SO:0001819	synonymous_variant	0			AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1548C>T	8.37:g.39534972C>T			B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Silent	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.A516	ENST00000265707.5	37	c.1548	CCDS6113.1	8																																																																																			ADAM18	-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich	ENSG00000168619		0.323	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM18	HGNC	protein_coding	OTTHUMT00000376916.1	-	0.00	74	0	C	NM_014237		39534972	+1	tier1	-	no_errors	ENST00000265707	ensembl	human	known	74_37	silent	7.55	49	4	SNP	0.985	T
ADCY10P1	221442	genome.wustl.edu	37	6	41092399	41092399	+	RNA	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr6:41092399C>T	ENST00000567255.1	+	0	3193					NR_026938.2				adenylate cyclase 10 (soluble) pseudogene 1																		TGGCCTGCCGCTGTGGGAGCT	0.517																																																	0																																												0					6p21.1	2012-07-04			ENSG00000161912	ENSG00000161912			44143	pseudogene	pseudogene							Standard	NR_026938		Approved		uc010jxi.1		OTTHUMG00000014668		6.37:g.41092399C>T				RNA	SNP	-	NULL	ENST00000567255.1	37	NULL		6																																																																																			ADCY10P1	-	-	ENSG00000161912		0.517	ADCY10P1-002	KNOWN	non_canonical_polymorphism|basic	processed_transcript	ADCY10P1	HGNC	pseudogene	OTTHUMT00000436223.1	-	0.00	91	0	C	NR_026938		41092399	+1	tier1	-	no_errors	ENST00000567255	ensembl	human	known	74_37	rna	7.41	50	4	SNP	1.000	T
ADD1	118	genome.wustl.edu	37	4	2896417	2896417	+	Missense_Mutation	SNP	G	G	A	rs560749760		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr4:2896417G>A	ENST00000398129.1	+	5	720	c.700G>A	c.(700-702)Gtg>Atg	p.V234M	ADD1_ENST00000264758.7_Missense_Mutation_p.V234M|ADD1_ENST00000503455.2_Missense_Mutation_p.V234M|ADD1_ENST00000513328.2_Missense_Mutation_p.V234M|ADD1_ENST00000398125.1_Missense_Mutation_p.V234M|ADD1_ENST00000355842.3_Missense_Mutation_p.V234M|ADD1_ENST00000446856.1_Missense_Mutation_p.V234M|ADD1_ENST00000398123.2_Missense_Mutation_p.V234M			P35611	ADDA_HUMAN	adducin 1 (alpha)	234					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACGCCCGGACGTGAAGTGCGT	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		14057	0.0		0.0	False		,,,				2504	0.001				Esophageal Squamous(71;505 1201 20414 34538 37449)												0													63.0	54.0	57.0					4																	2896417		2203	4300	6503	SO:0001583	missense	0			L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.700G>A	4.37:g.2896417G>A	ENSP00000381197:p.Val234Met		A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.V234M	ENST00000398129.1	37	c.700	CCDS43205.1	4	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652153	0.88056	.	.	ENSG00000087274	ENST00000264758;ENST00000446856;ENST00000398125;ENST00000398124;ENST00000513328;ENST00000508277;ENST00000503455;ENST00000355842;ENST00000398123;ENST00000398129	T;T;T;T;T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67;1.67;1.67;1.67;1.67	5.6	4.58	0.56647	Class II aldolase/adducin, N-terminal (3);	0.164155	0.53938	D	0.000060	T	0.59542	0.2201	M	0.89095	3.005	0.44036	D	0.996766	D;D;P;D;D;D;D	0.76494	0.99;0.99;0.945;0.999;0.998;0.966;0.992	P;D;P;D;P;P;P	0.71870	0.875;0.922;0.736;0.975;0.891;0.64;0.789	T	0.66913	-0.5803	10	0.87932	D	0	-18.1008	13.1646	0.59562	0.1328:0.0:0.8672:0.0	.	234;234;234;234;234;234;234	E7ENY0;B4DI79;Q86XM2;P35611;P35611-3;P35611-2;A2A3N8	.;.;.;ADDA_HUMAN;.;.;.	M	234;234;234;234;234;129;234;234;234;234	ENSP00000264758:V234M;ENSP00000399828:V234M;ENSP00000381193:V234M;ENSP00000421907:V234M;ENSP00000426700:V129M;ENSP00000423024:V234M;ENSP00000348100:V234M;ENSP00000381191:V234M;ENSP00000381197:V234M	ENSP00000264758:V234M	V	+	1	0	ADD1	2866215	1.000000	0.71417	0.120000	0.21714	0.948000	0.59901	4.081000	0.57627	2.635000	0.89317	0.591000	0.81541	GTG	ADD1	-	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	ENSG00000087274		0.537	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADD1	HGNC	protein_coding	OTTHUMT00000242840.1	-	0.00	49	0	G	NM_014189		2896417	+1	tier1	-	no_errors	ENST00000264758	ensembl	human	known	74_37	missense	21.43	11	3	SNP	0.996	A
AFF2	2334	genome.wustl.edu	37	X	148038118	148038118	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chrX:148038118C>T	ENST00000370460.2	+	11	3022	c.2543C>T	c.(2542-2544)gCc>gTc	p.A848V	AFF2_ENST00000342251.3_Missense_Mutation_p.A815V|AFF2_ENST00000286437.5_Missense_Mutation_p.A489V|AFF2_ENST00000370457.5_Missense_Mutation_p.A815V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	848					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GAGAAACCAGCCCCTAAGGGC	0.532																																																	0													67.0	66.0	66.0					X																	148038118		2203	4300	6503	SO:0001583	missense	0			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2543C>T	X.37:g.148038118C>T	ENSP00000359489:p.Ala848Val		A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.A848V	ENST00000370460.2	37	c.2543	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	C	10.10	1.258780	0.23051	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.87	4.08	0.47627	.	0.314611	0.34245	N	0.004124	T	0.52549	0.1741	L	0.48642	1.525	0.09310	N	1	B;B;B;B;B;B	0.22851	0.076;0.062;0.062;0.062;0.062;0.076	B;B;B;B;B;B	0.20577	0.03;0.018;0.018;0.018;0.018;0.03	T	0.38265	-0.9669	10	0.28530	T	0.3	.	11.0642	0.47966	0.0:0.8031:0.1257:0.0712	.	489;813;815;809;838;848	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	V	848;815;815;489	ENSP00000359489:A848V;ENSP00000359486:A815V;ENSP00000345459:A815V;ENSP00000286437:A489V	ENSP00000286437:A489V	A	+	2	0	AFF2	147845818	0.473000	0.25878	0.687000	0.30102	0.317000	0.28152	2.997000	0.49457	0.595000	0.29777	0.600000	0.82982	GCC	AFF2	-	pfam_TF_AF4/FMR2	ENSG00000155966		0.532	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	HGNC	protein_coding	OTTHUMT00000058673.2	-	0.00	53	0	C	NM_002025		148038118	+1	tier1	-	no_errors	ENST00000370460	ensembl	human	known	74_37	missense	14.29	18	3	SNP	0.122	T
AHNAK	79026	genome.wustl.edu	37	11	62299653	62299653	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr11:62299653G>A	ENST00000378024.4	-	5	2510	c.2236C>T	c.(2236-2238)Cac>Tac	p.H746Y	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	746					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)				ATCTTCAAGTGCCAGTCTGGG	0.507																																																	0													229.0	220.0	223.0					11																	62299653		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.2236C>T	11.37:g.62299653G>A	ENSP00000367263:p.His746Tyr		A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.H746Y	ENST00000378024.4	37	c.2236	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983996	0.35036	.	.	ENSG00000124942	ENST00000378024	T	0.00882	5.58	4.95	2.84	0.33178	.	.	.	.	.	T	0.06554	0.0168	M	0.90425	3.115	0.21184	N	0.999764	D	0.65815	0.995	D	0.73380	0.98	T	0.03493	-1.1031	9	0.62326	D	0.03	-7.0444	11.7057	0.51595	0.0:0.0:0.6254:0.3746	.	746	Q09666	AHNK_HUMAN	Y	746	ENSP00000367263:H746Y	ENSP00000367263:H746Y	H	-	1	0	AHNAK	62056229	0.592000	0.26832	0.998000	0.56505	0.766000	0.43426	1.174000	0.31932	2.293000	0.77203	0.455000	0.32223	CAC	AHNAK	-	NULL	ENSG00000124942		0.507	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	-	0.00	134	0	G	NM_024060		62299653	-1	tier1	-	no_errors	ENST00000378024	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.827	A
AKAP3	10566	genome.wustl.edu	37	12	4736873	4736873	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:4736873C>T	ENST00000545990.2	-	5	1719	c.1195G>A	c.(1195-1197)Gac>Aac	p.D399N	AKAP3_ENST00000228850.1_Missense_Mutation_p.D399N|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	399					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TCAGCCTTGTCTTGGGCTTTC	0.428																																																	0													161.0	157.0	159.0					12																	4736873		2203	4300	6503	SO:0001583	missense	0			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.1195G>A	12.37:g.4736873C>T	ENSP00000440994:p.Asp399Asn		O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.D399N	ENST00000545990.2	37	c.1195	CCDS8531.1	12	.	.	.	.	.	.	.	.	.	.	C	12.53	1.967051	0.34754	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.08546	3.08;3.08	5.67	5.67	0.87782	A-kinase anchor 110kDa, C-terminal (1);	0.274732	0.31884	N	0.006908	T	0.20740	0.0499	M	0.68317	2.08	0.34586	D	0.715	P	0.52577	0.954	P	0.53313	0.723	T	0.04320	-1.0960	10	0.54805	T	0.06	-21.7841	15.6217	0.76810	0.0:1.0:0.0:0.0	.	399	O75969	AKAP3_HUMAN	N	399	ENSP00000228850:D399N;ENSP00000440994:D399N	ENSP00000228850:D399N	D	-	1	0	AKAP3	4607134	0.878000	0.30173	0.250000	0.24296	0.009000	0.06853	1.370000	0.34238	2.837000	0.97791	0.655000	0.94253	GAC	AKAP3	-	pfam_AKAP_110_C,smart_AKAP_110	ENSG00000111254		0.428	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP3	HGNC	protein_coding	OTTHUMT00000398911.2		0.00	18	0	C	NM_006422		4736873	-1			no_errors	ENST00000228850	ensembl	human	known	74_37	missense	20.00	12	3	SNP	0.750	T
ANAPC5	51433	genome.wustl.edu	37	12	121790048	121790048	+	Silent	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:121790048C>T	ENST00000261819.3	-	1	217	c.96G>A	c.(94-96)ccG>ccA	p.P32P	ANAPC5_ENST00000541887.1_Silent_p.P32P	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	32					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGATCTTGTACGGCGTCACCC	0.627																																																	0													85.0	72.0	77.0					12																	121790048		2203	4300	6503	SO:0001819	synonymous_variant	0			AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.96G>A	12.37:g.121790048C>T			E9PFB2|Q8N4H7|Q9BQD4	Silent	SNP	smart_TPR_repeat	p.P32	ENST00000261819.3	37	c.96	CCDS9220.1	12																																																																																			ANAPC5	-	NULL	ENSG00000089053		0.627	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC5	HGNC	protein_coding	OTTHUMT00000402582.1	-	0.00	33	0	C			121790048	-1	tier1	-	no_errors	ENST00000261819	ensembl	human	known	74_37	silent	14.81	23	4	SNP	0.887	T
ANK2	287	genome.wustl.edu	37	4	114209643	114209643	+	Splice_Site	SNP	G	G	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr4:114209643G>T	ENST00000357077.4	+	20	2330		c.e20+1		ANK2_ENST00000506722.1_Splice_Site|ANK2_ENST00000394537.3_Splice_Site|ANK2_ENST00000264366.6_Splice_Site	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal						atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAAAACCAAGGTAAAGTACTT	0.383																																																	0													77.0	74.0	75.0					4																	114209643		2203	4300	6503	SO:0001630	splice_region_variant	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.2277+1G>T	4.37:g.114209643G>T			Q01485|Q08AC7|Q08AC8|Q7Z3L5	Splice_Site	SNP	-	e20+1	ENST00000357077.4	37	c.2277+1	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	G	23.2	4.393082	0.83011	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6162	0.91303	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANK2	114429092	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	9.845000	0.99498	2.381000	0.81170	0.460000	0.39030	.	ANK2	-	-	ENSG00000145362		0.383	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	-	0.00	115	0	G	NM_001148	Intron	114209643	+1	tier1	-	no_errors	ENST00000357077	ensembl	human	known	74_37	splice_site	6.90	54	4	SNP	1.000	T
ANKHD1	54882	genome.wustl.edu	37	5	139908479	139908479	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr5:139908479G>T	ENST00000360839.2	+	29	6102	c.5948G>T	c.(5947-5949)tGt>tTt	p.C1983F	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.C1983F|ANKHD1_ENST00000544120.1_Missense_Mutation_p.C366F|SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000297183.6_Missense_Mutation_p.C1983F	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1983	Ser-rich.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAGCACTTGTAGTTCCCTG	0.483																																																	0													163.0	160.0	161.0					5																	139908479		2203	4300	6503	SO:0001583	missense	0			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.5948G>T	5.37:g.139908479G>T	ENSP00000354085:p.Cys1983Phe		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.C1983F	ENST00000360839.2	37	c.5948	CCDS4225.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.98|12.98	2.101360|2.101360	0.37048|0.37048	.|.	.|.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996|ENSG00000131503	ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000536646;ENST00000433049;ENST00000544120;ENST00000532219|ENST00000435794;ENST00000432301	T;T;T;T;T;T|.	0.64438|.	-0.06;-0.1;1.97;1.95;1.52;-0.1|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.131415|.	0.52532|.	D|.	0.000061|.	T|T	0.45736|0.45736	0.1357|0.1357	L|L	0.36672|0.36672	1.1|1.1	0.31763|0.31763	N|N	0.63309|0.63309	P;B;P;B;B;B|.	0.40875|.	0.612;0.214;0.731;0.214;0.07;0.07|.	B;B;B;B;B;B|.	0.41088|.	0.188;0.094;0.347;0.094;0.058;0.058|.	T|T	0.52011|0.52011	-0.8632|-0.8632	10|5	0.46703|.	T|.	0.11|.	.|.	12.3442|12.3442	0.55111|0.55111	0.0774:0.0:0.9226:0.0|0.0774:0.0:0.9226:0.0	.|.	366;413;366;1983;1983;1983|.	Q8IWG5;Q9H059;F6WFL0;E9PF56;Q8IWZ2;Q8IWZ3|.	.;.;.;.;.;ANKH1_HUMAN|.	F|F	1983;1983;1983;639;418;505;366;1983|473;433	ENSP00000354085:C1983F;ENSP00000297183:C1983F;ENSP00000393204:C639F;ENSP00000390034:C505F;ENSP00000437687:C366F;ENSP00000432016:C1983F|.	ENSP00000432016:C1983F|.	C|L	+|+	2|3	0|2	ANKHD1-EIF4EBP3;ANKHD1|ANKHD1	139888663|139888663	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	3.056000|3.056000	0.49923|0.49923	2.489000|2.489000	0.83994|0.83994	0.655000|0.655000	0.94253|0.94253	TGT|TTG	ANKHD1	-	NULL	ENSG00000131503		0.483	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	-	0.00	44	0	G	NM_017747		139908479	+1	tier1	-	no_errors	ENST00000297183	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T
AP2M1	1173	genome.wustl.edu	37	3	183895369	183895369	+	Intron	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr3:183895369C>T	ENST00000292807.5	+	2	222				AP2M1_ENST00000439647.1_Intron|AP2M1_ENST00000411763.2_Missense_Mutation_p.S38F|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000382456.3_Intron	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTCAGTTCCTCTGGCCCATTC	0.592																																																	0																																										SO:0001627	intron_variant	0			U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, medium 1"", ""plasma membrane adaptor AP-2 50kDA protein"", ""clathrin coat adaptor protein AP50"", ""clathrin adaptor complex AP2, mu subunit"", ""HA2 50 kDA subunit"", ""clathrin assembly protein complex 2 medium chain"", ""AP-2 mu 2 chain"""	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.74+514C>T	3.37:g.183895369C>T			A6NE12|D3DNT1|P20172|P53679	Missense_Mutation	SNP	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.S38F	ENST00000292807.5	37	c.113	CCDS43177.1	3	.	.	.	.	.	.	.	.	.	.	C	9.385	1.073891	0.20147	.	.	ENSG00000161203	ENST00000427072;ENST00000411763	T	0.64991	-0.13	4.6	3.73	0.42828	.	.	.	.	.	T	0.61751	0.2372	.	.	.	0.23820	N	0.996759	.	.	.	.	.	.	T	0.55244	-0.8171	6	0.56958	D	0.05	.	8.7412	0.34558	0.0:0.897:0.0:0.103	.	.	.	.	F	38	ENSP00000403362:S38F	ENSP00000403362:S38F	S	+	2	0	AP2M1	185378063	0.547000	0.26465	0.200000	0.23457	0.075000	0.17131	0.354000	0.20146	1.297000	0.44761	0.655000	0.94253	TCT	AP2M1	-	superfamily_Longin-like_dom,pirsf_Clathrin_mu	ENSG00000161203		0.592	AP2M1-003	KNOWN	basic|CCDS	protein_coding	AP2M1	HGNC	protein_coding	OTTHUMT00000346013.1		0.00	41	0	C	NM_004068		183895369	+1			no_errors	ENST00000411763	ensembl	human	novel	74_37	missense	10.00	36	4	SNP	0.125	T
ARHGAP18	93663	genome.wustl.edu	37	6	129955223	129955223	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr6:129955223G>T	ENST00000368149.2	-	4	668	c.580C>A	c.(580-582)Ctt>Att	p.L194I		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		TTTGTTCTAAGTGACTGCGAT	0.358																																																	0													120.0	108.0	113.0					6																	129955223		2203	4300	6503	SO:0001583	missense	0			AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"""Rho GTPase activating proteins"""	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.580C>A	6.37:g.129955223G>T	ENSP00000357131:p.Leu194Ile			Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L194I	ENST00000368149.2	37	c.580	CCDS34535.1	6	.	.	.	.	.	.	.	.	.	.	G	5.569	0.289807	0.10567	.	.	ENSG00000146376	ENST00000368149;ENST00000275189	.	.	.	5.32	4.45	0.53987	.	1.190930	0.05889	N	0.627959	T	0.17492	0.0420	N	0.19112	0.55	0.20926	N	0.999826	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.27971	-1.0058	8	.	.	.	.	14.1488	0.65367	0.0:0.8427:0.1573:0.0	.	194;194	A9UK01;Q8N392	.;RHG18_HUMAN	I	149;194	.	.	L	-	1	0	ARHGAP18	129996916	0.627000	0.27129	0.891000	0.34965	0.297000	0.27493	1.226000	0.32563	1.375000	0.46248	-0.171000	0.13296	CTT	ARHGAP18	-	NULL	ENSG00000146376		0.358	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP18	HGNC	protein_coding	OTTHUMT00000042185.2	-	0.00	131	0	G	NM_033515		129955223	-1	tier1	-	no_errors	ENST00000368149	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.938	T
ARID2	196528	genome.wustl.edu	37	12	46285565	46285565	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:46285565G>T	ENST00000334344.6	+	17	5097	c.4925G>T	c.(4924-4926)tGg>tTg	p.W1642L	ARID2_ENST00000457135.1_Missense_Mutation_p.W250L|ARID2_ENST00000444670.1_Missense_Mutation_p.W1252L|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.W1493L	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1642					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.W1642L(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTTTATAGGTGGTTTCAGACA	0.363			"""N, S, F"""		hepatocellular carcinoma																																			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	1	Substitution - Missense(1)	lung(1)											71.0	71.0	71.0					12																	46285565		2203	4300	6503	SO:0001583	missense	0				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.4925G>T	12.37:g.46285565G>T	ENSP00000335044:p.Trp1642Leu		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.W1642L	ENST00000334344.6	37	c.4925	CCDS31783.1	12	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378413	0.61735	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670;ENST00000457135	T	0.30981	1.51	5.17	5.17	0.71159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.125927	0.64402	D	0.000019	T	0.48554	0.1506	L	0.46157	1.445	0.80722	D	1	D;D;P	0.71674	0.998;0.998;0.47	D;D;B	0.80764	0.994;0.994;0.33	T	0.20240	-1.0281	10	0.19147	T	0.46	-2.5051	19.0281	0.92941	0.0:0.0:1.0:0.0	.	1642;1252;1642	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	L	1642;759;759;1493;1252;250	ENSP00000335044:W1642L	ENSP00000335044:W1642L	W	+	2	0	ARID2	44571832	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.233000	0.95337	2.553000	0.86117	0.655000	0.94253	TGG	ARID2	-	NULL	ENSG00000189079		0.363	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID2	HGNC	protein_coding	OTTHUMT00000318380.2	-	0.00	31	0	G	XM_350875		46285565	+1	tier1	-	no_errors	ENST00000334344	ensembl	human	known	74_37	missense	18.75	13	3	SNP	1.000	T
ARMC10	83787	genome.wustl.edu	37	7	102716296	102716296	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr7:102716296G>T	ENST00000323716.3	+	2	604	c.212G>T	c.(211-213)tGg>tTg	p.W71L	FBXL13_ENST00000379306.3_5'Flank|FBXL13_ENST00000379305.3_5'Flank|FBXL13_ENST00000313221.4_5'Flank|FBXL13_ENST00000455112.2_5'Flank|FBXL13_ENST00000456695.1_5'Flank|FBXL13_ENST00000471074.1_5'Flank|FBXL13_ENST00000393772.2_5'Flank|ARMC10_ENST00000454559.1_Intron|ARMC10_ENST00000441711.2_Intron|ARMC10_ENST00000541300.1_Intron|FBXL13_ENST00000379308.3_5'Flank|ARMC10_ENST00000428183.2_Missense_Mutation_p.W71L|ARMC10_ENST00000425331.1_Intron	NM_031905.4	NP_114111.2	Q8N2F6	ARM10_HUMAN	armadillo repeat containing 10	71					regulation of growth (GO:0040008)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						GGAGGTACCTGGGAGTCACAG	0.592																																																	0													70.0	63.0	65.0					7																	102716296		2203	4300	6503	SO:0001583	missense	0			AY150853	CCDS5728.1, CCDS55145.1, CCDS55146.1, CCDS55147.1, CCDS55148.1, CCDS55149.1	7q22.1	2013-02-14			ENSG00000170632	ENSG00000170632		"""Armadillo repeat containing"""	21706	protein-coding gene	gene with protein product	"""specific Splicing Variant involved in Hepatocarcinogenesis"""	611864				12839973	Standard	NM_031905		Approved	MGC3195, SVH	uc003vaw.2	Q8N2F6	OTTHUMG00000157201	ENST00000323716.3:c.212G>T	7.37:g.102716296G>T	ENSP00000319412:p.Trp71Leu		A8K703|B4DWJ8|F5GX65|Q75K91|Q75MG6|Q75ML8|Q8IZC1|Q8IZC2|Q8IZC3|Q9BTM6	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.W71L	ENST00000323716.3	37	c.212	CCDS5728.1	7	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806671	0.31961	.	.	ENSG00000170632	ENST00000323716;ENST00000428183;ENST00000434153	T;T	0.42900	1.05;0.96	3.03	-4.12	0.03916	.	5.839930	0.00397	N	0.000052	T	0.23965	0.0580	N	0.14661	0.345	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09975	-1.0650	10	0.27785	T	0.31	.	5.7924	0.18367	0.0:0.2278:0.522:0.2502	.	71;71	Q8N2F6-3;Q8N2F6	.;ARM10_HUMAN	L	71	ENSP00000319412:W71L;ENSP00000398201:W71L	ENSP00000319412:W71L	W	+	2	0	ARMC10	102503532	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	-1.050000	0.03510	-0.946000	0.03677	-0.467000	0.05162	TGG	ARMC10	-	NULL	ENSG00000170632		0.592	ARMC10-001	KNOWN	basic|CCDS	protein_coding	ARMC10	HGNC	protein_coding	OTTHUMT00000347882.1	-	0.00	38	0	G	NM_031905		102716296	+1	tier1	-	no_errors	ENST00000323716	ensembl	human	known	74_37	missense	59.57	19	28	SNP	0.000	T
ARMC10	83787	genome.wustl.edu	37	7	102716313	102716313	+	Nonsense_Mutation	SNP	A	A	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr7:102716313A>T	ENST00000323716.3	+	2	621	c.229A>T	c.(229-231)Aag>Tag	p.K77*	FBXL13_ENST00000379306.3_5'Flank|FBXL13_ENST00000379305.3_5'Flank|FBXL13_ENST00000313221.4_5'Flank|FBXL13_ENST00000455112.2_5'Flank|FBXL13_ENST00000456695.1_5'Flank|FBXL13_ENST00000471074.1_5'Flank|FBXL13_ENST00000393772.2_5'Flank|ARMC10_ENST00000454559.1_Intron|ARMC10_ENST00000441711.2_Intron|ARMC10_ENST00000541300.1_Intron|FBXL13_ENST00000379308.3_5'Flank|ARMC10_ENST00000428183.2_Nonsense_Mutation_p.K77*|ARMC10_ENST00000425331.1_Intron	NM_031905.4	NP_114111.2	Q8N2F6	ARM10_HUMAN	armadillo repeat containing 10	77					regulation of growth (GO:0040008)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						ACAGTGGTCCAAGACCTCGCA	0.587																																																	0													76.0	68.0	70.0					7																	102716313		2202	4300	6502	SO:0001587	stop_gained	0			AY150853	CCDS5728.1, CCDS55145.1, CCDS55146.1, CCDS55147.1, CCDS55148.1, CCDS55149.1	7q22.1	2013-02-14			ENSG00000170632	ENSG00000170632		"""Armadillo repeat containing"""	21706	protein-coding gene	gene with protein product	"""specific Splicing Variant involved in Hepatocarcinogenesis"""	611864				12839973	Standard	NM_031905		Approved	MGC3195, SVH	uc003vaw.2	Q8N2F6	OTTHUMG00000157201	ENST00000323716.3:c.229A>T	7.37:g.102716313A>T	ENSP00000319412:p.Lys77*		A8K703|B4DWJ8|F5GX65|Q75K91|Q75MG6|Q75ML8|Q8IZC1|Q8IZC2|Q8IZC3|Q9BTM6	Nonsense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.K77*	ENST00000323716.3	37	c.229	CCDS5728.1	7	.	.	.	.	.	.	.	.	.	.	A	36	5.951649	0.97139	.	.	ENSG00000170632	ENST00000323716;ENST00000428183;ENST00000434153	.	.	.	2.81	-1.83	0.07833	.	4.887320	0.00644	U	0.000531	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	3.4329	0.07434	0.3726:0.2338:0.3936:0.0	.	.	.	.	X	77	.	ENSP00000319412:K77X	K	+	1	0	ARMC10	102503549	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	0.164000	0.16542	-0.367000	0.08052	0.482000	0.46254	AAG	ARMC10	-	NULL	ENSG00000170632		0.587	ARMC10-001	KNOWN	basic|CCDS	protein_coding	ARMC10	HGNC	protein_coding	OTTHUMT00000347882.1	-	0.00	40	0	A	NM_031905		102716313	+1	tier1	-	no_errors	ENST00000323716	ensembl	human	known	74_37	nonsense	61.82	21	34	SNP	0.000	T
ATP5A1	498	genome.wustl.edu	37	18	43669554	43669554	+	Frame_Shift_Del	DEL	T	T	-			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr18:43669554delT	ENST00000398752.6	-	5	749	c.628delA	c.(628-630)attfs	p.I211fs	ATP5A1_ENST00000590665.1_Frame_Shift_Del_p.I189fs|ATP5A1_ENST00000593152.2_Frame_Shift_Del_p.I161fs|ATP5A1_ENST00000282050.2_Frame_Shift_Del_p.I211fs	NM_001001935.2|NM_004046.5	NP_001001935.1|NP_004037.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	211					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|embryo development (GO:0009790)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of endothelial cell proliferation (GO:0001937)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting ATP synthase complex, catalytic core F(1) (GO:0045261)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						TCACCAATAATCAGTTCACGC	0.428																																																	0													82.0	73.0	76.0					18																	43669554		2203	4300	6503	SO:0001589	frameshift_variant	0			D14710	CCDS11927.1, CCDS58620.1, CCDS59315.1	18q21	2012-10-12	2006-01-13		ENSG00000152234	ENSG00000152234	3.6.1.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	823	protein-coding gene	gene with protein product		164360	"""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2"", ""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle"""	ATP5AL2, ATPM		1830491	Standard	NM_001257334		Approved	ATP5A, hATP1, OMR, ORM	uc002lbr.2	P25705	OTTHUMG00000132637	ENST00000398752.6:c.628delA	18.37:g.43669554delT	ENSP00000381736:p.Ile211fs		A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Frame_Shift_Del	DEL	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1_a/bsu_N,tigrfam_ATPase_F1-cplx_asu	p.I210fs	ENST00000398752.6	37	c.628	CCDS11927.1	18																																																																																			ATP5A1	-	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,superfamily_P-loop_NTPase,tigrfam_ATPase_F1-cplx_asu	ENSG00000152234		0.428	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5A1	HGNC	protein_coding	OTTHUMT00000255884.1		0.00	43	0	T	NM_004046		43669554	-1	tier1		no_errors	ENST00000282050	ensembl	human	known	74_37	frame_shift_del	12.50	14	2	DEL	1.000	-
ATP5B	506	genome.wustl.edu	37	12	57037213	57037213	+	Missense_Mutation	SNP	T	T	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:57037213T>A	ENST00000262030.3	-	5	816	c.766A>T	c.(766-768)Atc>Ttc	p.I256F	SNORD59A_ENST00000384304.1_RNA|ATP5B_ENST00000550162.1_5'Flank|ATP5B_ENST00000552919.1_Missense_Mutation_p.I256F	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	256					angiogenesis (GO:0001525)|ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|osteoblast differentiation (GO:0001649)|proton transport (GO:0015992)|regulation of intracellular pH (GO:0051453)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial nucleoid (GO:0042645)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase, catalytic core (GO:0005754)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTTAAGTTGATAACACCAGAT	0.438																																																	0													124.0	113.0	117.0					12																	57037213		2203	4300	6503	SO:0001583	missense	0			M27132	CCDS8924.1	12p13.3	2012-10-12			ENSG00000110955	ENSG00000110955	3.6.3.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	830	protein-coding gene	gene with protein product		102910		ATPSB		2687158	Standard	NM_001686		Approved		uc001slr.3	P06576	OTTHUMG00000170291	ENST00000262030.3:c.766A>T	12.37:g.57037213T>A	ENSP00000262030:p.Ile256Phe		A8K4X0|Q14283	Missense_Mutation	SNP	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1_a/bsu_N,smart_AAA+_ATPase,tigrfam_ATPase_F1-cplx_bsu	p.I256F	ENST00000262030.3	37	c.766	CCDS8924.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.21|18.21	3.574491|3.574491	0.65878|0.65878	.|.	.|.	ENSG00000110955|ENSG00000110955	ENST00000262030;ENST00000552919;ENST00000551020;ENST00000551570;ENST00000553007|ENST00000552959	D;D;T;T;D|.	0.81739|.	-1.53;-1.53;-1.28;-1.28;-1.53|.	5.89|5.89	5.89|5.89	0.94794|0.94794	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);ATPase, AAA+ type, core (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86041|0.86041	0.5838|0.5838	M|M	0.93720|0.93720	3.45|3.45	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.72075|.	0.976|.	D|D	0.89610|0.89610	0.3841|0.3841	10|5	0.87932|.	D|.	0|.	-6.9769|-6.9769	15.2909|15.2909	0.73865|0.73865	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	256|.	P06576|.	ATPB_HUMAN|.	F|F	256;256;195;49;157|192	ENSP00000262030:I256F;ENSP00000450297:I256F;ENSP00000446677:I195F;ENSP00000448428:I49F;ENSP00000447571:I157F|.	ENSP00000262030:I256F|.	I|Y	-|-	1|2	0|0	ATP5B|ATP5B	55323480|55323480	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.906000|7.906000	0.87423|0.87423	2.250000|2.250000	0.74265|0.74265	0.455000|0.455000	0.32223|0.32223	ATC|TAT	ATP5B	-	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_ATPase_F1-cplx_bsu	ENSG00000110955		0.438	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5B	HGNC	protein_coding	OTTHUMT00000408380.1	-	0.00	48	0	T	NM_001686		57037213	-1	tier1	-	no_errors	ENST00000262030	ensembl	human	known	74_37	missense	25.00	24	8	SNP	1.000	A
ATP6AP1	537	genome.wustl.edu	37	X	153662700	153662700	+	Silent	SNP	G	G	A	rs143207881		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chrX:153662700G>A	ENST00000369762.2	+	7	892	c.831G>A	c.(829-831)gcG>gcA	p.A277A	GDI1_ENST00000447750.2_5'Flank	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	277					ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCTCTGTGGCGTACAAGGACC	0.552																																																	0								G		0,3835		0,0,1632,571	151.0	129.0	136.0		831	-10.6	0.0	X	dbSNP_134	136	1,6727		0,1,2427,1872	no	coding-synonymous	ATP6AP1	NM_001183.4		0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095		277/471	153662700	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	0			D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553			868	protein-coding gene	gene with protein product		300197	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1"""	ATP6S1, ATP6IP1		8733135, 8281148	Standard	NM_001183		Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.831G>A	X.37:g.153662700G>A			A6ZKI4|Q8NBT4|Q9H0C7	Silent	SNP	pfam_BIG/ATPase_V1_suS1	p.A277	ENST00000369762.2	37	c.831	CCDS35451.1	X																																																																																			ATP6AP1	-	pfam_BIG/ATPase_V1_suS1	ENSG00000071553		0.552	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6AP1	HGNC	protein_coding	OTTHUMT00000081639.4	-	0.00	25	0	G	NM_001183		153662700	+1	tier1	rs143207881	no_errors	ENST00000369762	ensembl	human	known	74_37	silent	11.43	31	4	SNP	0.000	A
BAIAP2-AS1	440465	genome.wustl.edu	37	17	79005144	79005144	+	lincRNA	SNP	T	T	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr17:79005144T>A	ENST00000577066.1	-	0	2250					NR_026857.1				BAIAP2 antisense RNA 1 (head to head)																		TTACAAGTGCTTTAATCCAGG	0.557																																																	0																																												0			AK027350, AK056555, AK075238, AK096609		17q25.3	2012-10-15	2012-10-15		ENSG00000226137	ENSG00000226137		"""Long non-coding RNAs"""	44342	non-coding RNA	RNA, long non-coding			"""BAIAP2 antisense RNA 1 (non-protein coding)"", ""BAIAP2 antisense RNA 1"""				Standard	NR_026857		Approved		uc002jyy.2		OTTHUMG00000177697		17.37:g.79005144T>A				RNA	SNP	-	NULL	ENST00000577066.1	37	NULL		17	.	.	.	.	.	.	.	.	.	.	T	11.14	1.549724	0.27652	.	.	ENSG00000226137	ENST00000542745	.	.	.	3.34	2.2	0.27929	.	.	.	.	.	T	0.47728	0.1461	.	.	.	.	.	.	.	.	.	.	.	.	T	0.57447	-0.7810	4	0.87932	D	0	.	5.6358	0.17536	0.2425:0.0:0.0:0.7575	.	.	.	.	N	43	.	ENSP00000442580:K43N	K	-	3	2	AC127496.3	76619739	0.111000	0.22076	0.014000	0.15608	0.874000	0.50279	0.661000	0.25023	0.440000	0.26502	0.482000	0.46254	AAA	BAIAP2-AS1	-	-	ENSG00000226137		0.557	BAIAP2-AS1-001	KNOWN	basic	lincRNA	BAIAP2-AS1	HGNC	lincRNA	OTTHUMT00000438544.1	-	0.00	103	0	T	NR_026857		79005144	-1	tier1	-	no_errors	ENST00000542745	ensembl	human	known	74_37	rna	14.55	47	8	SNP	0.033	A
BAX	581	genome.wustl.edu	37	19	49464862	49464862	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:49464862C>T	ENST00000345358.7	+	6	600	c.548C>T	c.(547-549)gCc>gTc	p.A183V	CTD-2639E6.9_ENST00000599784.1_lincRNA|BAX_ENST00000391871.3_3'UTR|BAX_ENST00000293288.8_3'UTR|BAX_ENST00000415969.2_Missense_Mutation_p.A170V|BAX_ENST00000539787.1_3'UTR|BAX_ENST00000354470.3_Missense_Mutation_p.A134V	NM_138761.3|NM_138764.4	NP_620116.1|NP_620119.2	Q07812	BAX_HUMAN	BCL2-associated X protein	183					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell homeostatic proliferation (GO:0002358)|B cell negative selection (GO:0002352)|B cell receptor apoptotic signaling pathway (GO:1990117)|blood vessel remodeling (GO:0001974)|cellular response to organic substance (GO:0071310)|cellular response to UV (GO:0034644)|cerebral cortex development (GO:0021987)|development of secondary sexual characteristics (GO:0045136)|ectopic germ cell programmed cell death (GO:0035234)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells within a tissue (GO:0048873)|hypothalamus development (GO:0021854)|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 (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein binding (GO:0032091)|neuron apoptotic process (GO:0051402)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic DNA fragmentation (GO:1902512)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of developmental pigmentation (GO:0048087)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-embryonic camera-type eye morphogenesis (GO:0048597)|protein homooligomerization (GO:0051260)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)|protein oligomerization (GO:0051259)|regulation of cell cycle (GO:0051726)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|release of matrix enzymes from mitochondria (GO:0032976)|response to axon injury (GO:0048678)|response to gamma radiation (GO:0010332)|response to salt stress (GO:0009651)|response to toxic substance (GO:0009636)|retina development in camera-type eye (GO:0060041)|retinal cell apoptotic process (GO:1990009)|retinal cell programmed cell death (GO:0046666)|Sertoli cell proliferation (GO:0060011)|spermatid differentiation (GO:0048515)|T cell homeostatic proliferation (GO:0001777)|thymocyte apoptotic process (GO:0070242)|transformed cell apoptotic process (GO:0006927)|vagina development (GO:0060068)|viral process (GO:0016032)	BAX complex (GO:0097144)|Bcl-2 family protein complex (GO:0097136)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrial permeability transition pore complex (GO:0005757)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		GTGCTCACCGCCTCACTCACC	0.572																																																	0													43.0	27.0	32.0					19																	49464862		2203	4300	6503	SO:0001583	missense	0				CCDS12742.1, CCDS12743.1, CCDS12744.1, CCDS12745.1, CCDS12745.2	19q13.3-q13.4	2014-03-07			ENSG00000087088	ENSG00000087088			959	protein-coding gene	gene with protein product		600040				8358790	Standard	NM_138761		Approved	BCL2L4	uc002plf.1	Q07812	OTTHUMG00000160476	ENST00000345358.7:c.548C>T	19.37:g.49464862C>T	ENSP00000263262:p.Ala183Val		A8K4W1|P55269|Q07814|Q07815|Q8WZ49|Q9NR76|Q9NYG7|Q9UCZ6|Q9UCZ7|Q9UQD6	Missense_Mutation	SNP	pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam	p.A183V	ENST00000345358.7	37	c.548	CCDS12742.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.460|8.460	0.855174|0.855174	0.17106|0.17106	.|.	.|.	ENSG00000087088|ENSG00000087088	ENST00000345358;ENST00000415969;ENST00000354470|ENST00000506183	T;T;T|.	0.34275|.	1.37;2.62;1.37|.	3.06|3.06	3.06|3.06	0.35304|0.35304	.|.	.|.	.|.	.|.	.|.	T|T	0.33411|0.33411	0.0862|0.0862	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B;B|.	0.18310|.	0.006;0.02;0.027|.	B;B;B|.	0.14578|.	0.011;0.002;0.003|.	T|T	0.09357|0.09357	-1.0678|-1.0678	9|5	0.34782|.	T|.	0.22|.	.|.	9.8494|9.8494	0.41048|0.41048	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	134;183;170|.	Q07812-4;Q07812;Q07812-8|.	.;BAX_HUMAN;.|.	V|S	183;170;134|117	ENSP00000263262:A183V;ENSP00000389971:A170V;ENSP00000346461:A134V|.	ENSP00000263262:A183V|.	A|P	+|+	2|1	0|0	BAX|BAX	54156674|54156674	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.505000|0.505000	0.33919|0.33919	5.205000|5.205000	0.65186|0.65186	2.002000|2.002000	0.58637|0.58637	0.563000|0.563000	0.77884|0.77884	GCC|CCT	BAX	-	NULL	ENSG00000087088		0.572	BAX-006	KNOWN	basic|appris_principal|CCDS	protein_coding	BAX	HGNC	protein_coding	OTTHUMT00000360767.1		0.00	18	0	C	NM_138763		49464862	+1			no_errors	ENST00000345358	ensembl	human	known	74_37	missense	25.00	9	3	SNP	0.999	T
BBS4	585	genome.wustl.edu	37	15	72987563	72987563	+	Frame_Shift_Del	DEL	A	A	-			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr15:72987563delA	ENST00000268057.4	+	2	111	c.70delA	c.(70-72)aaafs	p.K25fs	BBS4_ENST00000539603.1_5'UTR|BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000542334.1_Intron|BBS4_ENST00000395205.2_Frame_Shift_Del_p.K33fs	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	25	Required for localization to centrosomes.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						ACCCCGGCAGAAAAAAGGTCT	0.333									Bardet-Biedl syndrome																																								0													63.0	68.0	66.0					15																	72987563		2198	4296	6494	SO:0001589	frameshift_variant	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"""Tetratricopeptide (TTC) repeat domain containing"""	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.70delA	15.37:g.72987563delA	ENSP00000268057:p.Lys25fs		B4E178|Q53DZ5|Q8NHU9|Q96H45	Frame_Shift_Del	DEL	pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A34fs	ENST00000268057.4	37	c.94	CCDS10246.1	15																																																																																			BBS4	-	NULL	ENSG00000140463		0.333	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS4	HGNC	protein_coding	OTTHUMT00000257473.2		0.00	89	0	A	NM_033028		72987563	+1	tier1		no_errors	ENST00000395205	ensembl	human	known	74_37	frame_shift_del	5.56	34	2	DEL	0.850	-
BCL7B	9275	genome.wustl.edu	37	7	72951689	72951689	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr7:72951689G>A	ENST00000223368.2	-	6	971	c.548C>T	c.(547-549)cCg>cTg	p.P183L	BCL7B_ENST00000411832.1_Missense_Mutation_p.P126L|BCL7B_ENST00000482231.1_5'UTR	NM_001707.3	NP_001698.2	Q9BQE9	BCL7B_HUMAN	B-cell CLL/lymphoma 7B	183							actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	9		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTTCAGGGGCGGGGCACCTGA	0.632																																																	0													64.0	66.0	65.0					7																	72951689		2203	4300	6503	SO:0001583	missense	0			X89985	CCDS5550.1, CCDS56489.1, CCDS75613.1	7q11.23	2008-07-18			ENSG00000106635	ENSG00000106635			1005	protein-coding gene	gene with protein product		605846				8605326, 9806765	Standard	NM_001707		Approved		uc003tyf.2	Q9BQE9	OTTHUMG00000023412	ENST00000223368.2:c.548C>T	7.37:g.72951689G>A	ENSP00000223368:p.Pro183Leu		A8K226|C9JWD3|D3DXF0|O43769|Q13845|Q6ZW75	Missense_Mutation	SNP	pfam_BCL7	p.P183L	ENST00000223368.2	37	c.548	CCDS5550.1	7	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450648	0.84101	.	.	ENSG00000106635	ENST00000223368;ENST00000411832	T	0.68181	-0.31	5.13	5.13	0.70059	.	0.104399	0.64402	D	0.000003	T	0.78375	0.4273	L	0.60455	1.87	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.79843	-0.1632	10	0.87932	D	0	.	13.9553	0.64144	0.0:0.0:1.0:0.0	.	126;183	C9JWD3;Q9BQE9	.;BCL7B_HUMAN	L	183;126	ENSP00000223368:P183L	ENSP00000223368:P183L	P	-	2	0	BCL7B	72589625	1.000000	0.71417	0.913000	0.36048	0.962000	0.63368	5.544000	0.67231	2.668000	0.90789	0.549000	0.68633	CCG	BCL7B	-	NULL	ENSG00000106635		0.632	BCL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL7B	HGNC	protein_coding	OTTHUMT00000252194.1	-	0.00	41	0	G	NM_001707		72951689	-1	tier1	-	no_errors	ENST00000223368	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.961	A
BCORP1	286554	genome.wustl.edu	37	Y	21621235	21621235	+	RNA	SNP	G	G	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chrY:21621235G>A	ENST00000441139.1	-	0	1810					NR_002923.2		Q8N888	BCOR2_HUMAN	BCL6 corepressor pseudogene 1																		CTGCAACCCTGTAGGTCATTT	0.363																																																	0																																												0			AK097140		Yq11.222	2012-11-19	2010-09-30	2010-09-30	ENSG00000215580	ENSG00000215580			23953	pseudogene	pseudogene			"""BCL6 co-repressor-like 2"", ""BCL6 corepressor-like 2"""	BCORL2			Standard	NR_002923		Approved	FLJ39821	uc011nav.1	Q8N888	OTTHUMG00000036498		Y.37:g.21621235G>A				RNA	SNP	-	NULL	ENST00000441139.1	37	NULL		Y																																																																																			BCORP1	-	-	ENSG00000215580		0.363	BCORP1-001	KNOWN	basic	processed_transcript	BCORP1	HGNC	pseudogene	OTTHUMT00000088801.1	-	0.00	82	0	G	NM_173700		21621235	-1	tier1	-	no_errors	ENST00000400605	ensembl	human	known	74_37	rna	21.43	11	3	SNP	0.968	A
BMPR1B	658	genome.wustl.edu	37	4	96051071	96051071	+	Missense_Mutation	SNP	A	A	C			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr4:96051071A>C	ENST00000515059.1	+	9	927	c.644A>C	c.(643-645)tAt>tCt	p.Y215S	BMPR1B_ENST00000394931.1_Missense_Mutation_p.Y215S|BMPR1B_ENST00000440890.2_Missense_Mutation_p.Y245S|BMPR1B_ENST00000264568.4_Missense_Mutation_p.Y215S	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	215	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		AAAGGTCGCTATGGGGAAGTT	0.453																																																	0													138.0	148.0	145.0					4																	96051071		2203	4300	6503	SO:0001583	missense	0			D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"""CD molecules"""	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.644A>C	4.37:g.96051071A>C	ENSP00000426617:p.Tyr215Ser		B2R953|B4DSV1|P78366	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor	p.Y245S	ENST00000515059.1	37	c.734	CCDS3642.1	4	.	.	.	.	.	.	.	.	.	.	A	21.8	4.197981	0.79015	.	.	ENSG00000138696	ENST00000515059;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000264568;ENST00000394931	D;D;D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3;-3.3;-3.3	5.69	5.69	0.88448	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94761	0.8309	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.95521	0.8594	10	0.87932	D	0	.	16.0008	0.80292	1.0:0.0:0.0:0.0	.	215	O00238	BMR1B_HUMAN	S	215;215;215;245;215;215	ENSP00000426617:Y215S;ENSP00000425444:Y215S;ENSP00000421671:Y215S;ENSP00000401907:Y245S;ENSP00000264568:Y215S;ENSP00000378389:Y215S	ENSP00000264568:Y215S	Y	+	2	0	BMPR1B	96270094	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.270000	0.78493	2.179000	0.69175	0.451000	0.29950	TAT	BMPR1B	-	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	ENSG00000138696		0.453	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR1B	HGNC	protein_coding	OTTHUMT00000253609.3	-	0.00	61	0	A	NM_001203		96051071	+1	tier1	-	no_errors	ENST00000440890	ensembl	human	known	74_37	missense	44.44	19	16	SNP	1.000	C
BOD1L2	284257	genome.wustl.edu	37	18	54815059	54815059	+	Silent	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr18:54815059C>T	ENST00000585477.1	+	1	767	c.516C>T	c.(514-516)tcC>tcT	p.S172S	CTD-2526M8.3_ENST00000590942.1_lincRNA	NM_001257964.1	NP_001244893.1	Q8IYS8	BD1L2_HUMAN	biorientation of chromosomes in cell division 1-like 2	172																	AGGACACTTCCTAAGAATATG	0.463																																																	0																																										SO:0001819	synonymous_variant	0			AK127964	CCDS59322.1	18q21.31	2013-10-11	2012-04-10	2012-04-10	ENSG00000228075	ENSG00000228075			28505	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member C"", ""biorientation of chromosomes in cell division 1 pseudogene"""	FAM44C, BOD1P		17938248	Standard	NM_001257964		Approved	MGC33608	uc002lgm.3	Q8IYS8	OTTHUMG00000180124	ENST00000585477.1:c.516C>T	18.37:g.54815059C>T			B3KXU4|Q8WW13	Silent	SNP	NULL	p.S172	ENST00000585477.1	37	c.516	CCDS59322.1	18																																																																																			BOD1L2	-	NULL	ENSG00000228075		0.463	BOD1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L2	HGNC	protein_coding	OTTHUMT00000449763.1	-	0.00	40	0	C	NM_001257964		54815059	+1	tier1	-	no_errors	ENST00000585477	ensembl	human	known	74_37	silent	20.00	12	3	SNP	0.986	T
BRINP1	1620	genome.wustl.edu	37	9	121929725	121929725	+	Silent	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr9:121929725C>T	ENST00000265922.3	-	8	2384	c.1923G>A	c.(1921-1923)tcG>tcA	p.S641S	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	641					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											TGGAGGGATCCGACAGGTCCA	0.562																																																	0													147.0	141.0	143.0					9																	121929725		2203	4300	6503	SO:0001819	synonymous_variant	0			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1923G>A	9.37:g.121929725C>T			Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	pfam_MACPF,smart_MACPF	p.S641	ENST00000265922.3	37	c.1923	CCDS6822.1	9																																																																																			BRINP1	-	NULL	ENSG00000078725		0.562	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP1	HGNC	protein_coding	OTTHUMT00000055440.2	-	0.00	34	0	C	NM_014618		121929725	-1	tier1	-	no_errors	ENST00000265922	ensembl	human	known	74_37	silent	20.00	20	5	SNP	0.003	T
C12orf50	160419	genome.wustl.edu	37	12	88381723	88381723	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:88381723G>T	ENST00000298699.2	-	9	901	c.721C>A	c.(721-723)Cca>Aca	p.P241T	C12orf50_ENST00000550553.1_Intron	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	241										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						GAATGCTTTGGATGAGGACTG	0.333																																																	0													152.0	133.0	140.0					12																	88381723		2203	4300	6503	SO:0001583	missense	0			AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.721C>A	12.37:g.88381723G>T	ENSP00000298699:p.Pro241Thr		Q6P674	Missense_Mutation	SNP	NULL	p.P241T	ENST00000298699.2	37	c.721	CCDS9031.1	12	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854348	0.71719	.	.	ENSG00000165805	ENST00000298699	T	0.30981	1.51	5.76	5.76	0.90799	.	0.200551	0.35805	N	0.002980	T	0.52901	0.1763	M	0.72479	2.2	0.80722	D	1	D	0.71674	0.998	D	0.66351	0.943	T	0.47222	-0.9134	10	0.40728	T	0.16	.	15.4619	0.75363	0.0:0.0:1.0:0.0	.	241	Q8NA57	CL050_HUMAN	T	241	ENSP00000298699:P241T	ENSP00000298699:P241T	P	-	1	0	C12orf50	86905854	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.489000	0.60309	2.722000	0.93159	0.650000	0.86243	CCA	C12orf50	-	NULL	ENSG00000165805		0.333	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf50	HGNC	protein_coding	OTTHUMT00000406328.1		0.00	99	0	G	NM_152589		88381723	-1			no_errors	ENST00000298699	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	T
C14orf28	122525	genome.wustl.edu	37	14	45374625	45374625	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr14:45374625G>T	ENST00000325192.3	+	5	1080	c.805G>T	c.(805-807)Gct>Tct	p.A269S	C14orf28_ENST00000557112.1_Missense_Mutation_p.A239S|RP11-857B24.5_ENST00000555157.1_RNA	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	269										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						TTATTCTGCAGCTTTCCAGAT	0.333																																																	0													122.0	132.0	128.0					14																	45374625		2203	4300	6503	SO:0001583	missense	0			AA496212	CCDS32069.1	14q21.2	2012-08-16			ENSG00000179476	ENSG00000179476			19834	protein-coding gene	gene with protein product	"""dopamine receptor interacting protein 1"""						Standard	XM_005267316		Approved	DRIP-1	uc001wvo.3	Q4W4Y0	OTTHUMG00000170722	ENST00000325192.3:c.805G>T	14.37:g.45374625G>T	ENSP00000326846:p.Ala269Ser			Missense_Mutation	SNP	NULL	p.A269S	ENST00000325192.3	37	c.805	CCDS32069.1	14	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272001	0.59649	.	.	ENSG00000179476	ENST00000325192;ENST00000557112	T;T	0.35048	1.33;1.33	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.24236	0.0587	N	0.14661	0.345	0.58432	D	0.99999	P	0.48694	0.914	B	0.39419	0.299	T	0.11275	-1.0594	10	0.62326	D	0.03	.	16.1097	0.81250	0.0:0.0:1.0:0.0	.	269	Q4W4Y0	CN028_HUMAN	S	269;239	ENSP00000326846:A269S;ENSP00000451791:A239S	ENSP00000326846:A269S	A	+	1	0	C14orf28	44444375	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.959000	0.87885	2.473000	0.83533	0.455000	0.32223	GCT	C14orf28	-	NULL	ENSG00000179476		0.333	C14orf28-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	C14orf28	HGNC	protein_coding	OTTHUMT00000410086.1	-	0.00	126	0	G	NM_001017923		45374625	+1	tier1	-	no_errors	ENST00000325192	ensembl	human	known	74_37	missense	5.33	70	4	SNP	1.000	T
C1orf61	10485	genome.wustl.edu	37	1	156374385	156374386	+	Frame_Shift_Ins	INS	-	-	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:156374385_156374386insT	ENST00000368243.1	-	7	547_548	c.431_432insA	c.(430-432)aagfs	p.K144fs	C1orf61_ENST00000488498.2_5'UTR	NM_006365.1	NP_006356.1	Q13536	CROC4_HUMAN	chromosome 1 open reading frame 61	144						nucleus (GO:0005634)				large_intestine(2)|lung(2)|skin(1)	5	Hepatocellular(266;0.158)					GTACATTCTTCTTTTTGGTCTG	0.431																																																	0																																										SO:0001589	frameshift_variant	0				CCDS1142.1	1q22	2014-03-17			ENSG00000125462	ENSG00000125462			30780	protein-coding gene	gene with protein product	"""contingent replication of cDNA-4"", ""transcriptional activator of the c fos promoter"""					10995546, 23012322	Standard	XM_005244832		Approved	CROC4	uc001fou.1	Q13536	OTTHUMG00000031022	ENST00000368243.1:c.432dupA	1.37:g.156374390_156374390dupT	ENSP00000357226:p.Lys144fs		B1ALL5|B1ALL8	Frame_Shift_Ins	INS	NULL	p.K145fs	ENST00000368243.1	37	c.432_431	CCDS1142.1	1																																																																																			C1orf61	-	NULL	ENSG00000125462		0.431	C1orf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf61	HGNC	protein_coding	OTTHUMT00000075988.1		0.00	70	0	-	NM_006365		156374386	-1	tier1		no_errors	ENST00000368243	ensembl	human	known	74_37	frame_shift_ins	47.62	11	10	INS	0.984:0.983	T
C1orf111	284680	genome.wustl.edu	37	1	162344173	162344173	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:162344173G>A	ENST00000367935.5	-	3	530	c.451C>T	c.(451-453)Cga>Tga	p.R151*	RP11-565P22.6_ENST00000431696.1_Intron	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	chromosome 1 open reading frame 111	151										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			GTGGCTTCTCGAGGGCAAGTG	0.552																																																	0													188.0	182.0	184.0					1																	162344173		2203	4300	6503	SO:0001587	stop_gained	0			BC032957	CCDS1238.1	1q23.3	2008-02-05			ENSG00000171722	ENSG00000171722			27648	protein-coding gene	gene with protein product						12477932	Standard	NM_182581		Approved		uc001gbx.2	Q5T0L3	OTTHUMG00000031375	ENST00000367935.5:c.451C>T	1.37:g.162344173G>A	ENSP00000356912:p.Arg151*		Q6X961|Q8NEC3	Nonsense_Mutation	SNP	NULL	p.R151*	ENST00000367935.5	37	c.451	CCDS1238.1	1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882326	0.72294	.	.	ENSG00000171722	ENST00000367935	.	.	.	5.11	3.16	0.36331	.	0.381500	0.22628	N	0.057612	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.1527	6.4673	0.21990	0.0942:0.0:0.7167:0.1891	.	.	.	.	X	151	.	ENSP00000356912:R151X	R	-	1	2	C1orf111	160610797	0.001000	0.12720	0.067000	0.19924	0.742000	0.42306	0.974000	0.29436	1.071000	0.40834	0.655000	0.94253	CGA	C1orf111	-	NULL	ENSG00000171722		0.552	C1orf111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf111	HGNC	protein_coding	OTTHUMT00000076791.2	-	0.00	49	0	G	NM_182581		162344173	-1	tier1	-	no_errors	ENST00000367935	ensembl	human	known	74_37	nonsense	31.82	15	7	SNP	0.794	A
CCDC124	115098	genome.wustl.edu	37	19	18054449	18054449	+	Silent	SNP	G	G	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:18054449G>A	ENST00000597436.1	+	5	704	c.597G>A	c.(595-597)ctG>ctA	p.L199L	CCDC124_ENST00000445755.2_Silent_p.L199L	NM_138442.3	NP_612451.1	Q96CT7	CC124_HUMAN	coiled-coil domain containing 124	199					cell cycle (GO:0007049)|cell division (GO:0051301)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(2)	3						TGAAACAGCTGCTCAAGAAGG	0.602																																																	0													29.0	35.0	33.0					19																	18054449		2202	4300	6502	SO:0001819	synonymous_variant	0			BC013949	CCDS12369.1	19p13.11	2014-02-20				ENSG00000007080			25171	protein-coding gene	gene with protein product						23894443	Standard	NM_138442		Approved		uc002nhs.3	Q96CT7		ENST00000597436.1:c.597G>A	19.37:g.18054449G>A				Silent	SNP	pfam_DUF1014,superfamily_HMG_box_dom	p.L199	ENST00000597436.1	37	c.597	CCDS12369.1	19																																																																																			CCDC124	-	pfam_DUF1014,superfamily_HMG_box_dom	ENSG00000007080		0.602	CCDC124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC124	HGNC	protein_coding	OTTHUMT00000466484.1	-	0.00	85	0	G	NM_138442		18054449	+1	tier1	-	no_errors	ENST00000445755	ensembl	human	known	74_37	silent	7.69	48	4	SNP	1.000	A
CCDC160	347475	genome.wustl.edu	37	X	133379619	133379619	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chrX:133379619G>T	ENST00000517294.1	+	3	1172	c.789G>T	c.(787-789)atG>atT	p.M263I	CCDC160_ENST00000370809.4_Missense_Mutation_p.M263I			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	263										endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						AAGAAGAAATGAAATCATATT	0.373																																																	0													33.0	30.0	31.0					X																	133379619		1833	4065	5898	SO:0001583	missense	0			BC017958	CCDS48171.1	Xq26.2	2010-02-17			ENSG00000203952	ENSG00000203952			37286	protein-coding gene	gene with protein product							Standard	NM_001101357		Approved		uc011mvj.2	A6NGH7	OTTHUMG00000164183	ENST00000517294.1:c.789G>T	X.37:g.133379619G>T	ENSP00000427951:p.Met263Ile			Missense_Mutation	SNP	NULL	p.M263I	ENST00000517294.1	37	c.789	CCDS48171.1	X	.	.	.	.	.	.	.	.	.	.	G	3.783	-0.045324	0.07452	.	.	ENSG00000203952	ENST00000517294;ENST00000370809	D;D	0.90955	-2.76;-2.76	5.29	2.29	0.28610	.	0.200862	0.34959	N	0.003541	T	0.78984	0.4370	N	0.19112	0.55	0.25042	N	0.991191	B	0.16603	0.018	B	0.14578	0.011	T	0.65792	-0.6082	10	0.44086	T	0.13	-14.1595	2.2595	0.04063	0.1751:0.1503:0.5167:0.1578	.	263	A6NGH7	CC160_HUMAN	I	263	ENSP00000427951:M263I;ENSP00000359845:M263I	ENSP00000359845:M263I	M	+	3	0	CCDC160	133207285	1.000000	0.71417	0.915000	0.36163	0.025000	0.11179	1.540000	0.36115	0.509000	0.28195	0.513000	0.50165	ATG	CCDC160	-	NULL	ENSG00000203952		0.373	CCDC160-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC160	HGNC	protein_coding	OTTHUMT00000377679.1	-	0.00	58	0	G	NM_001101357		133379619	+1	tier1	-	no_errors	ENST00000370809	ensembl	human	known	74_37	missense	36.11	23	13	SNP	0.984	T
CCDC180	100499483	genome.wustl.edu	37	9	100124025	100124025	+	Frame_Shift_Del	DEL	C	C	-			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr9:100124025delC	ENST00000357054.1	+	38	4481	c.3546delC	c.(3544-3546)gacfs	p.D1182fs	CCDC180_ENST00000529487.1_Frame_Shift_Del_p.D1211fs|MIR1302-8_ENST00000408342.1_RNA|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Frame_Shift_Del_p.D1211fs|CCDC180_ENST00000395220.1_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1182						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TCCTGAAGGACCAGGAGGAAG	0.602																																																	0													76.0	60.0	65.0					9																	100124025		2203	4300	6503	SO:0001589	frameshift_variant	0			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.3546delC	9.37:g.100124025delC	ENSP00000349562:p.Asp1182fs		Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Frame_Shift_Del	DEL	NULL	p.Q1212fs	ENST00000357054.1	37	c.3633		9																																																																																			CCDC180	-	NULL	ENSG00000197816		0.602	CCDC180-201	KNOWN	basic	protein_coding	CCDC180	HGNC	protein_coding			0.00	51	0	C	NM_020893		100124025	+1	tier1		no_errors	ENST00000375202	ensembl	human	known	74_37	frame_shift_del	11.76	15	2	DEL	0.000	-
CCDC27	148870	genome.wustl.edu	37	1	3679830	3679830	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:3679830G>T	ENST00000294600.2	+	7	1197	c.1113G>T	c.(1111-1113)gaG>gaT	p.E371D		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	371	Glu-rich.							p.E371E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		agggaagcgaggaggaggaag	0.657																																																	1	Substitution - coding silent(1)	lung(1)											68.0	70.0	69.0					1																	3679830		2199	4299	6498	SO:0001583	missense	0				CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1113G>T	1.37:g.3679830G>T	ENSP00000294600:p.Glu371Asp		Q5TBV3|Q96M50	Missense_Mutation	SNP	superfamily_Prefoldin	p.E371D	ENST00000294600.2	37	c.1113	CCDS50.1	1	.	.	.	.	.	.	.	.	.	.	G	5.875	0.345517	0.11126	.	.	ENSG00000162592	ENST00000294600	T	0.25579	1.79	3.35	2.42	0.29668	.	0.239239	0.21658	U	0.071067	T	0.16300	0.0392	L	0.29908	0.895	0.09310	N	1	B	0.23185	0.081	B	0.23419	0.046	T	0.18304	-1.0341	10	0.30854	T	0.27	-0.667	7.1133	0.25403	0.1382:0.0:0.8618:0.0	.	371	Q2M243	CCD27_HUMAN	D	371	ENSP00000294600:E371D	ENSP00000294600:E371D	E	+	3	2	CCDC27	3669690	0.775000	0.28604	0.006000	0.13384	0.009000	0.06853	1.585000	0.36600	0.672000	0.31204	0.462000	0.41574	GAG	CCDC27	-	NULL	ENSG00000162592		0.657	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC27	HGNC	protein_coding	OTTHUMT00000009740.1		0.00	83	0	G	NM_152492		3679830	+1			no_errors	ENST00000294600	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.037	T
CCL20	6364	genome.wustl.edu	37	2	228681084	228681084	+	Missense_Mutation	SNP	A	A	G	rs368201222		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr2:228681084A>G	ENST00000358813.4	+	3	311	c.253A>G	c.(253-255)Att>Gtt	p.I85V	CCL20_ENST00000473642.1_3'UTR|CCL20_ENST00000409189.3_Missense_Mutation_p.I84V			P78556	CCL20_HUMAN	chemokine (C-C motif) ligand 20	85					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemokinesis (GO:0042466)|chemotaxis (GO:0006935)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of T cell migration (GO:2000406)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			cervix(1)|lung(2)	3		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		GGTGAAATATATTGTGCGTCT	0.398																																																	0								A	VAL/ILE,VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	100.0	98.0	98.0		250,253	2.2	0.0	2		98	0,8600		0,0,4300	no	missense,missense	CCL20	NM_001130046.1,NM_004591.2	29,29	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign,benign	84/96,85/97	228681084	1,13005	2203	4300	6503	SO:0001583	missense	0			D86955	CCDS2469.1, CCDS46536.1	2q36.3	2013-02-25	2002-08-22	2002-08-23	ENSG00000115009	ENSG00000115009		"""Chemokine ligands"", ""Endogenous ligands"""	10619	protein-coding gene	gene with protein product		601960	"""small inducible cytokine subfamily A (Cys-Cys), member 20"""	SCYA20		9038201, 11352563	Standard	NM_004591		Approved	LARC, MIP-3a, exodus-1, ST38, CKb4	uc002vpl.2	P78556	OTTHUMG00000133189	ENST00000358813.4:c.253A>G	2.37:g.228681084A>G	ENSP00000351671:p.Ile85Val		Q53S51|Q99664	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.I85V	ENST00000358813.4	37	c.253	CCDS2469.1	2	.	.	.	.	.	.	.	.	.	.	A	0.018	-1.477067	0.01035	2.27E-4	0.0	ENSG00000115009	ENST00000409189;ENST00000358813	T;T	0.04706	3.57;3.57	5.19	2.24	0.28232	Chemokine interleukin-8-like domain (3);	0.303658	0.30890	N	0.008671	T	0.02848	0.0085	.	.	.	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.002;0.003	T	0.47711	-0.9096	9	0.17369	T	0.5	2.2428	7.9962	0.30269	0.2683:0.0:0.7317:0.0	.	84;85	P78556-2;P78556	.;CCL20_HUMAN	V	84;85	ENSP00000386273:I84V;ENSP00000351671:I85V	ENSP00000351671:I85V	I	+	1	0	CCL20	228389328	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.053000	0.14184	0.275000	0.22094	-0.345000	0.07892	ATT	CCL20	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	ENSG00000115009		0.398	CCL20-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCL20	HGNC	protein_coding	OTTHUMT00000331641.1		0.00	24	0	A	NM_004591		228681084	+1			no_errors	ENST00000358813	ensembl	human	known	74_37	missense	20.00	8	2	SNP	0.000	G
CCP110	9738	genome.wustl.edu	37	16	19547383	19547383	+	Missense_Mutation	SNP	C	C	T	rs372440972		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr16:19547383C>T	ENST00000381396.5	+	4	639	c.392C>T	c.(391-393)aCg>aTg	p.T131M	CCP110_ENST00000396212.2_Missense_Mutation_p.T131M|CCP110_ENST00000396208.2_Missense_Mutation_p.T131M	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	131	CEP97 binding.				cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CCAAGCCATACGGAACACTCT	0.388																																																	0													74.0	74.0	74.0					16																	19547383		2197	4300	6497	SO:0001583	missense	0			AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.392C>T	16.37:g.19547383C>T	ENSP00000370803:p.Thr131Met		B7WP23|O43335|Q68DV9|Q8NE13	Missense_Mutation	SNP	NULL	p.T131M	ENST00000381396.5	37	c.392	CCDS55992.1	16	.	.	.	.	.	.	.	.	.	.	C	13.48	2.251206	0.39797	.	.	ENSG00000103540	ENST00000396212;ENST00000381396;ENST00000396208	T;T;T	0.16743	2.32;2.32;2.32	6.07	5.0	0.66597	.	0.621190	0.16815	N	0.198420	T	0.25306	0.0615	L	0.53249	1.67	0.19575	N	0.999967	D;D	0.56287	0.975;0.975	P;P	0.48425	0.577;0.577	T	0.07751	-1.0756	10	0.62326	D	0.03	-9.8038	13.0047	0.58696	0.0:0.9067:0.0:0.0933	.	131;131	O43303;O43303-2	CP110_HUMAN;.	M	131	ENSP00000379515:T131M;ENSP00000370803:T131M;ENSP00000379511:T131M	ENSP00000370803:T131M	T	+	2	0	CCP110	19454884	0.001000	0.12720	0.363000	0.25875	0.338000	0.28826	1.094000	0.30951	1.320000	0.45209	0.655000	0.94253	ACG	CCP110	-	NULL	ENSG00000103540		0.388	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCP110	HGNC	protein_coding	OTTHUMT00000254284.2	-	0.00	102	0	C	NM_014711		19547383	+1	tier1	-	no_errors	ENST00000381396	ensembl	human	known	74_37	missense	18.75	38	9	SNP	0.407	T
CD22	933	genome.wustl.edu	37	19	35832388	35832388	+	Silent	SNP	G	G	A	rs143303785		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:35832388G>A	ENST00000085219.5	+	8	1716	c.1650G>A	c.(1648-1650)ctG>ctA	p.L550L	CD22_ENST00000536635.2_Silent_p.L462L|CD22_ENST00000594250.1_Silent_p.L373L|CD22_ENST00000544992.2_Silent_p.L550L|CD22_ENST00000419549.2_Silent_p.L378L|CD22_ENST00000270311.6_Silent_p.L430L|CD22_ENST00000341773.6_Silent_p.L373L	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	550	Ig-like C2-type 5.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCAGGCTTCTGGGGAAAGAAA	0.517																																					Ovarian(42;1009 1133 23674 26041)												0								G	,,,	1,4405	2.1+/-5.4	0,1,2202	42.0	45.0	44.0		1386,1650,1119,1650	2.0	0.0	19	dbSNP_134	44	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CD22	NM_001185099.1,NM_001185100.1,NM_001185101.1,NM_001771.3	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	462/760,550/752,373/671,550/848	35832388	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.1650G>A	19.37:g.35832388G>A			F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Silent	SNP	pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L550	ENST00000085219.5	37	c.1650	CCDS12457.1	19																																																																																			CD22	-	pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000012124		0.517	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD22	HGNC	protein_coding	OTTHUMT00000466099.1		0.00	58	0	G	NM_001771		35832388	+1			no_errors	ENST00000085219	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.001	A
CDH19	28513	genome.wustl.edu	37	18	64235834	64235834	+	Missense_Mutation	SNP	C	C	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr18:64235834C>A	ENST00000540086.1	-	3	555	c.309G>T	c.(307-309)caG>caT	p.Q103H	CDH19_ENST00000262150.2_Missense_Mutation_p.Q103H	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	211	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TATCAAGCTTCTGTATGGCAT	0.433																																																	0													133.0	128.0	130.0					18																	64235834		2203	4299	6502	SO:0001583	missense	0			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.309G>T	18.37:g.64235834C>A	ENSP00000439593:p.Gln103His		O15098	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q103H	ENST00000540086.1	37	c.309	CCDS59325.1	18	.	.	.	.	.	.	.	.	.	.	C	11.43	1.635916	0.29068	.	.	ENSG00000071991	ENST00000262150;ENST00000540086;ENST00000454642	T;T	0.52754	0.65;0.65	5.87	4.08	0.47627	Cadherin (5);Cadherin-like (1);	0.655520	0.15278	N	0.270855	T	0.67571	0.2907	M	0.82630	2.6	0.29381	N	0.863345	D;D	0.65815	0.995;0.993	P;D	0.65443	0.861;0.935	T	0.64943	-0.6288	10	0.87932	D	0	.	10.2734	0.43495	0.0:0.7813:0.0:0.2187	.	103;103	F5H1K0;Q9H159	.;CAD19_HUMAN	H	103;103;48	ENSP00000262150:Q103H;ENSP00000439593:Q103H	ENSP00000262150:Q103H	Q	-	3	2	CDH19	62386814	0.809000	0.29036	0.977000	0.42913	0.954000	0.61252	1.019000	0.30014	1.498000	0.48600	0.591000	0.81541	CAG	CDH19	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000071991		0.433	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	CDH19	HGNC	protein_coding	OTTHUMT00000442285.1	-	0.00	70	0	C	NM_021153		64235834	-1	tier1	-	no_errors	ENST00000262150	ensembl	human	known	74_37	missense	28.00	18	7	SNP	0.958	A
CHAT	1103	genome.wustl.edu	37	10	50835768	50835769	+	Frame_Shift_Ins	INS	-	-	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr10:50835768_50835769insT	ENST00000337653.2	+	7	1201_1202	c.1048_1049insT	c.(1048-1050)attfs	p.I350fs	CHAT_ENST00000395559.2_Frame_Shift_Ins_p.I232fs|CHAT_ENST00000455728.2_Frame_Shift_Ins_p.I232fs|CHAT_ENST00000339797.1_Frame_Shift_Ins_p.I232fs|CHAT_ENST00000351556.3_Frame_Shift_Ins_p.I232fs|CHAT_ENST00000395562.2_Frame_Shift_Ins_p.I268fs	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	350					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	TTTGCCTCCAATTGGCCTGCTG	0.564																																																	0																																										SO:0001589	frameshift_variant	0			AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1050dupT	10.37:g.50835770_50835770dupT	ENSP00000337103:p.Ile350fs		A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Frame_Shift_Ins	INS	pfam_Carn_acyl_trans	p.G351fs	ENST00000337653.2	37	c.1048_1049	CCDS7232.1	10																																																																																			CHAT	-	pfam_Carn_acyl_trans	ENSG00000070748		0.564	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHAT	HGNC	protein_coding	OTTHUMT00000047997.1		0.00	57	0	-	NM_020549		50835769	+1	tier1		no_errors	ENST00000337653	ensembl	human	known	74_37	frame_shift_ins	18.18	9	2	INS	0.997:1.000	T
CLVS2	134829	genome.wustl.edu	37	6	123332263	123332263	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr6:123332263C>T	ENST00000275162.5	+	3	1858	c.523C>T	c.(523-525)Ctc>Ttc	p.L175F	CLVS2_ENST00000368438.1_Missense_Mutation_p.L29F	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	175	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						AGCCTCTAAACTCACACCAAG	0.403																																																	0													121.0	106.0	111.0					6																	123332263		2203	4300	6503	SO:0001583	missense	0			AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.523C>T	6.37:g.123332263C>T	ENSP00000275162:p.Leu175Phe		B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.L175F	ENST00000275162.5	37	c.523	CCDS34525.1	6	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956896	0.73902	.	.	ENSG00000146352	ENST00000275162;ENST00000368438	D;D	0.84516	-1.86;-1.86	5.07	5.07	0.68467	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.063697	0.64402	D	0.000004	D	0.83801	0.5333	L	0.33245	0.995	0.80722	D	1	D	0.67145	0.996	D	0.74348	0.983	T	0.79212	-0.1896	10	0.11485	T	0.65	4.8856	18.6278	0.91347	0.0:1.0:0.0:0.0	.	175	Q5SYC1	CLVS2_HUMAN	F	175;29	ENSP00000275162:L175F;ENSP00000357423:L29F	ENSP00000275162:L175F	L	+	1	0	CLVS2	123373962	1.000000	0.71417	0.997000	0.53966	0.924000	0.55760	5.854000	0.69503	2.625000	0.88918	0.585000	0.79938	CTC	CLVS2	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000146352		0.403	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLVS2	HGNC	protein_coding	OTTHUMT00000042042.2	-	0.00	81	0	C	NM_001010852		123332263	+1	tier1	-	no_errors	ENST00000275162	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T
CNTNAP3	79937	genome.wustl.edu	37	9	39176040	39176040	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr9:39176040C>T	ENST00000297668.6	-	7	1050	c.977G>A	c.(976-978)cGt>cAt	p.R326H	CNTNAP3_ENST00000377656.2_Missense_Mutation_p.R326H|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.R326H|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.R238H|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.R326H	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	326	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AAAGCTTTTACGTCTGAATGC	0.388																																																	0													68.0	75.0	73.0					9																	39176040		2200	4297	6497	SO:0001583	missense	0			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.977G>A	9.37:g.39176040C>T	ENSP00000297668:p.Arg326His		B1AMA0|Q9C0E9	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.R326H	ENST00000297668.6	37	c.977	CCDS6616.1	9	.	.	.	.	.	.	.	.	.	.	C	1.848	-0.465790	0.04476	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659;ENST00000377653	T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2	3.0	-1.41	0.08941	Concanavalin A-like lectin/glucanase (2);Concanavalin A-like lectin/glucanase, subgroup (2);Laminin G domain (4);Laminin G, subdomain 2 (2);	.	.	.	.	T	0.53126	0.1777	N	0.12637	0.245	0.09310	N	1	B;B;B;B;B	0.19706	0.006;0.024;0.038;0.017;0.024	B;B;B;B;B	0.18263	0.01;0.021;0.014;0.01;0.014	T	0.38564	-0.9655	9	0.07175	T	0.84	.	8.2957	0.31984	0.0:0.4818:0.0:0.5182	.	326;326;326;326;326	E2QRH2;Q96NU0;Q9BZ76-2;A6NC89;Q9BZ76	.;CNT3B_HUMAN;.;.;CNTP3_HUMAN	H	326;326;238;326;326;238	ENSP00000297668:R326H;ENSP00000366884:R326H;ENSP00000350863:R238H;ENSP00000320728:R326H;ENSP00000366887:R326H	ENSP00000297668:R326H	R	-	2	0	CNTNAP3	39166040	0.000000	0.05858	0.073000	0.20177	0.104000	0.19210	-0.200000	0.09478	-0.421000	0.07416	0.460000	0.39030	CGT	CNTNAP3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000106714		0.388	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3	HGNC	protein_coding	OTTHUMT00000052511.1	-	0.00	153	0	C	NM_033655		39176040	-1	tier1	-	no_errors	ENST00000297668	ensembl	human	known	74_37	missense	28.57	40	16	SNP	0.130	T
COG1	9382	genome.wustl.edu	37	17	71192713	71192713	+	Missense_Mutation	SNP	C	C	T	rs548449163		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr17:71192713C>T	ENST00000299886.4	+	2	463	c.383C>T	c.(382-384)cCg>cTg	p.P128L	RP11-143K11.5_ENST00000580671.1_RNA	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	128					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			TTAGAAATTCCGGAGAAGATC	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		17174	0.0		0.0	False		,,,				2504	0.001																0													108.0	114.0	112.0					17																	71192713		2203	4300	6503	SO:0001583	missense	0				CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"""Components of oligomeric golgi complex"""	6545	protein-coding gene	gene with protein product		606973	"""low density lipoprotein receptor defect B complementing"""	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.383C>T	17.37:g.71192713C>T	ENSP00000299886:p.Pro128Leu		Q9NPV9|Q9P2G6	Missense_Mutation	SNP	NULL	p.P128L	ENST00000299886.4	37	c.383	CCDS11692.1	17	.	.	.	.	.	.	.	.	.	.	C	12.22	1.874077	0.33069	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.56275	0.47;0.51	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.72374	0.3452	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.75068	-0.3448	10	0.59425	D	0.04	-23.7945	18.0856	0.89456	0.0:1.0:0.0:0.0	.	128;128;128	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	L	128	ENSP00000400111:P128L;ENSP00000299886:P128L	ENSP00000299886:P128L	P	+	2	0	COG1	68704308	1.000000	0.71417	0.595000	0.28798	0.285000	0.27093	7.030000	0.76484	2.500000	0.84329	0.591000	0.81541	CCG	COG1	-	NULL	ENSG00000166685		0.552	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG1	HGNC	protein_coding	OTTHUMT00000441638.1		0.00	52	0	C			71192713	+1			no_errors	ENST00000299886	ensembl	human	known	74_37	missense	7.89	35	3	SNP	1.000	T
COL11A1	1301	genome.wustl.edu	37	1	103352393	103352393	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:103352393G>T	ENST00000370096.3	-	63	5140	c.4828C>A	c.(4828-4830)Ctg>Atg	p.L1610M	COL11A1_ENST00000512756.1_Missense_Mutation_p.L1494M|COL11A1_ENST00000353414.4_Missense_Mutation_p.L1571M|COL11A1_ENST00000358392.2_Missense_Mutation_p.L1622M	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1610	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTGAGTTGCAGGTCTTTACAA	0.438																																																	0													183.0	180.0	181.0					1																	103352393		2203	4300	6503	SO:0001583	missense	0			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4828C>A	1.37:g.103352393G>T	ENSP00000359114:p.Leu1610Met		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.L1622M	ENST00000370096.3	37	c.4864	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795818	0.70452	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	5.53	4.62	0.57501	Fibrillar collagen, C-terminal (3);	0.000000	0.64402	D	0.000001	D	0.91610	0.7349	H	0.97265	3.97	0.58432	D	0.999997	D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.998;0.997;0.998;0.999;0.997	D	0.93833	0.7129	10	0.87932	D	0	.	12.3104	0.54925	0.1417:0.0:0.8583:0.0	.	1494;1571;1622;1610;830	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	M	1610;1622;1571;830;1494	ENSP00000359114:L1610M;ENSP00000351163:L1622M;ENSP00000302551:L1571M;ENSP00000426533:L1494M	ENSP00000302551:L1571M	L	-	1	2	COL11A1	103124981	1.000000	0.71417	0.995000	0.50966	0.974000	0.67602	3.550000	0.53691	1.335000	0.45486	0.313000	0.20887	CTG	COL11A1	-	pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C	ENSG00000060718		0.438	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1		0.00	68	0	G	NM_080630		103352393	-1			no_errors	ENST00000358392	ensembl	human	known	74_37	missense	12.50	21	3	SNP	1.000	T
COL19A1	1310	genome.wustl.edu	37	6	70866605	70866605	+	Missense_Mutation	SNP	A	A	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr6:70866605A>T	ENST00000322773.4	+	34	2384	c.2282A>T	c.(2281-2283)aAa>aTa	p.K761I	COL19A1_ENST00000393344.1_Missense_Mutation_p.K383I	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	761	Collagen-like 7.|Triple-helical region 4 (COL4).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCTGGGGAGAAAGGCGATGAG	0.378																																																	0													80.0	84.0	82.0					6																	70866605		2203	4300	6503	SO:0001583	missense	0				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2282A>T	6.37:g.70866605A>T	ENSP00000316030:p.Lys761Ile		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.K761I	ENST00000322773.4	37	c.2282	CCDS4970.1	6	.	.	.	.	.	.	.	.	.	.	A	15.63	2.891044	0.52014	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.93859	-3.3;-3.3	5.59	5.59	0.84812	.	0.131383	0.47455	D	0.000229	D	0.96439	0.8838	M	0.87381	2.88	0.48901	D	0.999727	D	0.89917	1.0	D	0.91635	0.999	D	0.96542	0.9401	10	0.51188	T	0.08	.	14.3399	0.66619	1.0:0.0:0.0:0.0	.	761	Q14993	COJA1_HUMAN	I	761;383	ENSP00000316030:K761I;ENSP00000377013:K383I	ENSP00000316030:K761I	K	+	2	0	COL19A1	70923326	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	4.451000	0.60047	2.134000	0.65973	0.533000	0.62120	AAA	COL19A1	-	pfam_Collagen	ENSG00000082293		0.378	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	HGNC	protein_coding	OTTHUMT00000041127.1	-	0.00	91	0	A			70866605	+1	tier1	-	no_errors	ENST00000322773	ensembl	human	known	74_37	missense	16.67	35	7	SNP	1.000	T
COL1A1	1277	genome.wustl.edu	37	17	48272618	48272618	+	Missense_Mutation	SNP	C	C	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr17:48272618C>A	ENST00000225964.5	-	19	1392	c.1274G>T	c.(1273-1275)gGc>gTc	p.G425V		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	425	Triple-helical region.		G -> S (in OI2; lethal form). {ECO:0000269|PubMed:18996919, ECO:0000269|PubMed:7691343}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	ACCAGGAGGGCCGCCGGGGCC	0.667			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																																	Dom	yes		17	17q21.31-q22	1277	"""collagen, type I, alpha 1"""	yes	M	0													28.0	37.0	34.0					17																	48272618		2201	4298	6499	SO:0001583	missense	0			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.1274G>T	17.37:g.48272618C>A	ENSP00000225964:p.Gly425Val		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	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.G425V	ENST00000225964.5	37	c.1274	CCDS11561.1	17	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548743	0.65311	.	.	ENSG00000108821	ENST00000225964	D	0.99353	-5.77	5.61	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.99579	0.9848	H	0.99156	4.45	0.80722	D	1	P	0.41643	0.758	P	0.51895	0.683	D	0.97392	0.9990	10	0.87932	D	0	.	14.6633	0.68888	0.147:0.853:0.0:0.0	.	425	P02452	CO1A1_HUMAN	V	425	ENSP00000225964:G425V	ENSP00000225964:G425V	G	-	2	0	COL1A1	45627617	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	6.047000	0.71038	1.338000	0.45544	0.557000	0.71058	GGC	COL1A1	-	pfam_Collagen	ENSG00000108821		0.667	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A1	HGNC	protein_coding	OTTHUMT00000309036.2	-	0.00	90	0	C			48272618	-1	tier1	-	no_errors	ENST00000225964	ensembl	human	known	74_37	missense	45.95	20	17	SNP	1.000	A
COL3A1	1281	genome.wustl.edu	37	2	189854839	189854839	+	Silent	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr2:189854839C>T	ENST00000304636.3	+	9	878	c.708C>T	c.(706-708)ccC>ccT	p.P236P	COL3A1_ENST00000317840.5_Silent_p.P236P	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	236	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	CAGGTAGACCCGGACGACCTG	0.388																																																	0													70.0	73.0	72.0					2																	189854839		2203	4300	6503	SO:0001819	synonymous_variant	0			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.708C>T	2.37:g.189854839C>T			D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	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.P236	ENST00000304636.3	37	c.708	CCDS2297.1	2																																																																																			COL3A1	-	NULL	ENSG00000168542		0.388	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL3A1	HGNC	protein_coding	OTTHUMT00000255899.3		0.00	70	0	C	NM_000090		189854839	+1			no_errors	ENST00000304636	ensembl	human	known	74_37	silent	5.26	36	2	SNP	0.000	T
COL9A1	1297	genome.wustl.edu	37	6	71011706	71011706	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr6:71011706G>A	ENST00000357250.6	-	2	244	c.86C>T	c.(85-87)cCc>cTc	p.P29L	COL9A1_ENST00000370496.3_Missense_Mutation_p.P29L	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	29	Nonhelical region (NC4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GCCCTTACTGGGGCGACGCTT	0.458																																																	0													40.0	41.0	41.0					6																	71011706		2203	4300	6503	SO:0001583	missense	0				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.86C>T	6.37:g.71011706G>A	ENSP00000349790:p.Pro29Leu		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.P29L	ENST00000357250.6	37	c.86	CCDS4971.1	6	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215107	0.58452	.	.	ENSG00000112280	ENST00000357250;ENST00000370496	D;D	0.90844	-2.4;-2.74	6.07	5.16	0.70880	.	0.359580	0.27558	N	0.018839	T	0.79173	0.4401	N	0.24115	0.695	0.80722	D	1	B	0.24258	0.1	B	0.21708	0.036	T	0.74359	-0.3691	10	0.32370	T	0.25	.	17.4183	0.87507	0.0:0.134:0.866:0.0	.	29	P20849	CO9A1_HUMAN	L	29	ENSP00000349790:P29L;ENSP00000359527:P29L	ENSP00000349790:P29L	P	-	2	0	COL9A1	71068427	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.592000	0.53993	2.884000	0.98904	0.655000	0.94253	CCC	COL9A1	-	NULL	ENSG00000112280		0.458	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A1	HGNC	protein_coding	OTTHUMT00000041131.2		0.00	59	0	G			71011706	-1			no_errors	ENST00000357250	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.999	A
COX19	90639	genome.wustl.edu	37	7	1009024	1009024	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr7:1009024G>T	ENST00000344111.3	-	3	352	c.263C>A	c.(262-264)gCa>gAa	p.A88E		NM_001031617.2	NP_001026788.1	Q49B96	COX19_HUMAN	cytochrome c oxidase assembly homolog 19 (S. cerevisiae)	88						cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;2.15e-15)		TCATTTTTTTGCCTCTGATTT	0.478																																																	0													255.0	293.0	280.0					7																	1009024		2203	4300	6503	SO:0001583	missense	0			AY957566	CCDS34582.1	7p22.3	2012-10-15	2012-10-15		ENSG00000240230	ENSG00000240230		"""Mitochondrial respiratory chain complex assembly factors"""	28074	protein-coding gene	gene with protein product		610429	"""COX19 cytochrome c oxidase assembly homolog (S. cerevisiae)"""			15596615, 16212937	Standard	NM_001031617		Approved	MGC104475	uc003sjp.1	Q49B96	OTTHUMG00000151476	ENST00000344111.3:c.263C>A	7.37:g.1009024G>T	ENSP00000342015:p.Ala88Glu		A4FTX0	Missense_Mutation	SNP	pfam_CHCH,superfamily_Cys_alpha_HP_mot_SF	p.A88E	ENST00000344111.3	37	c.263	CCDS34582.1	7	.	.	.	.	.	.	.	.	.	.	G	1.843	-0.466880	0.04476	.	.	ENSG00000240230	ENST00000344111	.	.	.	4.03	4.03	0.46877	.	0.849423	0.10326	N	0.688137	T	0.17662	0.0424	.	.	.	0.09310	N	1	B	0.26635	0.155	B	0.27608	0.081	T	0.03993	-1.0986	8	0.02654	T	1	-0.7089	12.4047	0.55432	0.0:0.0:1.0:0.0	.	88	Q49B96	COX19_HUMAN	E	88	.	ENSP00000342015:A88E	A	-	2	0	COX19	975550	0.958000	0.32768	0.003000	0.11579	0.864000	0.49448	2.277000	0.43417	2.191000	0.70037	0.555000	0.69702	GCA	COX19	-	NULL	ENSG00000240230		0.478	COX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX19	HGNC	protein_coding	OTTHUMT00000322812.1		0.00	51	0	G	NM_001031617		1009024	-1			no_errors	ENST00000344111	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.011	T
CP	1356	genome.wustl.edu	37	3	148925178	148925178	+	Silent	SNP	G	G	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr3:148925178G>A	ENST00000264613.6	-	5	1270	c.1008C>T	c.(1006-1008)ctC>ctT	p.L336L		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	336	F5/8 type A 1.|Plastocyanin-like 2.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TCTGACAGCTGAGCATCCATT	0.428																																																	0													107.0	103.0	104.0					3																	148925178		2203	4299	6502	SO:0001819	synonymous_variant	0			M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.1008C>T	3.37:g.148925178G>A			Q14063|Q2PP18|Q9UKS4	Silent	SNP	pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin	p.L336	ENST00000264613.6	37	c.1008	CCDS3141.1	3																																																																																			CP	-	pfam_Cu-oxidase_2,pfam_Cu-oxidase,superfamily_Cupredoxin	ENSG00000047457		0.428	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CP	HGNC	protein_coding	OTTHUMT00000317498.1		0.00	65	0	G	NM_000096		148925178	-1			no_errors	ENST00000264613	ensembl	human	known	74_37	silent	6.25	45	3	SNP	0.848	A
CPAMD8	27151	genome.wustl.edu	37	19	17032782	17032782	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:17032782G>T	ENST00000443236.1	-	27	3734	c.3703C>A	c.(3703-3705)Ctg>Atg	p.L1235M		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1188						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TTGTAGGTCAGCTGGCGCTGG	0.677																																																	0													25.0	35.0	32.0					19																	17032782		1766	3538	5304	SO:0001583	missense	0			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3703C>A	19.37:g.17032782G>T	ENSP00000402505:p.Leu1235Met		Q8NC09|Q9ULD7	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom	p.L1235M	ENST00000443236.1	37	c.3703	CCDS42519.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.01|16.01	3.001804|3.001804	0.54254|0.54254	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000291440|ENST00000443236	.|T	.|0.43688	.|0.94	2.84|2.84	0.492|0.492	0.16872|0.16872	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);|.	0.000000|.	0.53938|.	U|.	0.000059|.	T|T	0.43875|0.43875	0.1267|0.1267	L|L	0.58583|0.58583	1.82|1.82	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.70716|.	0.97|.	T|T	0.17837|0.17837	-1.0356|-1.0356	9|6	0.59425|.	D|.	0.04|.	.|.	7.5766|7.5766	0.27939|0.27939	0.2149:0.0:0.7851:0.0|0.2149:0.0:0.7851:0.0	.|.	1188|.	Q8IZJ3|.	CPMD8_HUMAN|.	M|R	1235|1245	.|ENSP00000402505:S1245R	ENSP00000291440:L1235M|.	L|S	-|-	1|3	2|2	CPAMD8|CPAMD8	16893782|16893782	1.000000|1.000000	0.71417|0.71417	0.893000|0.893000	0.35052|0.35052	0.966000|0.966000	0.64601|0.64601	2.135000|2.135000	0.42112|0.42112	-0.250000|-0.250000	0.09555|0.09555	0.561000|0.561000	0.74099|0.74099	CTG|AGC	CPAMD8	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000160111		0.677	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPAMD8	HGNC	protein_coding	OTTHUMT00000257531.2	-	0.00	76	0	G	NM_015692		17032782	-1	tier1	-	no_errors	ENST00000443236	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T
CRISP3	10321	genome.wustl.edu	37	6	49703265	49703265	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr6:49703265C>T	ENST00000393666.1	-	3	235	c.229G>A	c.(229-231)Gca>Aca	p.A77T	CRISP3_ENST00000371159.4_Missense_Mutation_p.A108T|CRISP3_ENST00000433368.2_Missense_Mutation_p.A100T|CRISP3_ENST00000423399.2_5'UTR|CRISP3_ENST00000263045.4_Missense_Mutation_p.A90T			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	77	SCP.				defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CACTGGTTTGCCCACTTTTGG	0.358																																																	0													159.0	148.0	152.0					6																	49703265		2203	4300	6503	SO:0001583	missense	0			X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.229G>A	6.37:g.49703265C>T	ENSP00000377274:p.Ala77Thr		A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Missense_Mutation	SNP	pfam_CAP_domain,pfam_Cysteine_rich_secretory,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.A100T	ENST00000393666.1	37	c.298		6	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011077	0.75046	.	.	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000371159;ENST00000354620	T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44	4.79	4.79	0.61399	CAP domain (3);	0.291142	0.25723	U	0.028726	T	0.44932	0.1317	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59595	-0.7425	10	0.66056	D	0.02	.	13.3066	0.60355	0.0:1.0:0.0:0.0	.	77	P54108	CRIS3_HUMAN	T	90;100;77;108;100	ENSP00000263045:A90T;ENSP00000389026:A100T;ENSP00000377274:A77T;ENSP00000360201:A108T;ENSP00000346636:A100T	ENSP00000263045:A90T	A	-	1	0	CRISP3	49811224	1.000000	0.71417	0.874000	0.34290	0.665000	0.39181	3.056000	0.49923	2.190000	0.69967	0.462000	0.41574	GCA	CRISP3	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	ENSG00000096006		0.358	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	CRISP3	HGNC	protein_coding		-	0.00	71	0	C	NM_006061		49703265	-1	tier1	-	no_errors	ENST00000433368	ensembl	human	known	74_37	missense	15.38	22	4	SNP	0.998	T
CSMD2	114784	genome.wustl.edu	37	1	34080113	34080113	+	Missense_Mutation	SNP	C	C	T	rs568684319		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:34080113C>T	ENST00000373380.1	-	19	2963	c.2743G>A	c.(2743-2745)Gtg>Atg	p.V915M	CSMD2_ENST00000373377.1_Missense_Mutation_p.V141M|CSMD2_ENST00000373388.2_Missense_Mutation_p.V141M|CSMD2_ENST00000373381.4_Missense_Mutation_p.V2042M			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2002	Sushi 5. {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)				CCAAAGCCCACGGGCAGTGCT	0.557																																																	0													75.0	69.0	71.0					1																	34080113		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.2743G>A	1.37:g.34080113C>T	ENSP00000362478:p.Val915Met		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.V2042M	ENST00000373380.1	37	c.6124		1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885517	0.72410	.	.	ENSG00000121904	ENST00000373381;ENST00000373380;ENST00000373377;ENST00000373388	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	5.47	4.56	0.56223	CUB (5);	0.000000	0.64402	D	0.000001	T	0.38719	0.1051	M	0.66378	2.025	0.51012	D	0.999907	P;D;D	0.76494	0.956;0.974;0.999	P;D;D	0.72982	0.751;0.913;0.979	T	0.19031	-1.0318	10	0.59425	D	0.04	.	13.2507	0.60050	0.0:0.9238:0.0:0.0762	.	915;2002;2042	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	M	2042;915;141;141	ENSP00000362479:V2042M;ENSP00000362478:V915M;ENSP00000362475:V141M;ENSP00000362486:V141M	ENSP00000241312:V2002M	V	-	1	0	CSMD2	33852700	1.000000	0.71417	0.844000	0.33320	0.744000	0.42396	4.977000	0.63792	1.316000	0.45131	0.655000	0.94253	GTG	CSMD2	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000121904		0.557	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	HGNC	protein_coding	OTTHUMT00000030635.4		0.00	59	0	C	NM_052896		34080113	-1			no_errors	ENST00000373381	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.996	T
CTNNBL1	56259	genome.wustl.edu	37	20	36322545	36322545	+	Silent	SNP	G	G	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr20:36322545G>T	ENST00000361383.6	+	1	138	c.21G>T	c.(19-21)ctG>ctT	p.L7L	CTNNBL1_ENST00000405275.2_5'UTR	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	7					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GCGAACTTCTGAGCTACCAGG	0.667																																					Ovarian(184;582 2038 3273 4106 42608)												0													88.0	78.0	81.0					20																	36322545		2203	4299	6502	SO:0001819	synonymous_variant	0			AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"""nuclear associated protein"""	611537	"""chromosome 20 open reading frame 33"""	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.21G>T	20.37:g.36322545G>T			B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Silent	SNP	pfam_CTNNBL1_N,superfamily_ARM-type_fold	p.L7	ENST00000361383.6	37	c.21	CCDS13298.1	20																																																																																			CTNNBL1	-	NULL	ENSG00000132792		0.667	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	CTNNBL1	HGNC	protein_coding	OTTHUMT00000079125.1	-	0.00	171	0	G	NM_030877		36322545	+1	tier1	-	no_errors	ENST00000361383	ensembl	human	putative	74_37	silent	5.26	72	4	SNP	1.000	T
CYP2D6	1565	genome.wustl.edu	37	22	42523617	42523617	+	Silent	SNP	G	G	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr22:42523617G>A	ENST00000360608.5	-	7	1119	c.1005C>T	c.(1003-1005)atC>atT	p.I335I	NDUFA6-AS1_ENST00000600968.1_RNA|NDUFA6-AS1_ENST00000451451.1_RNA|NDUFA6-AS1_ENST00000595777.1_RNA|NDUFA6-AS1_ENST00000434834.1_RNA|NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000417327.1_RNA|NDUFA6-AS1_ENST00000610250.1_RNA|CYP2D6_ENST00000389970.3_Silent_p.I335I|NDUFA6-AS1_ENST00000536447.2_RNA|CYP2D6_ENST00000359033.4_Silent_p.I284I	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	335					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TCACGTCGTCGATCTCCTGTT	0.612																																																	0													75.0	58.0	64.0					22																	42523617		2201	4299	6500	SO:0001819	synonymous_variant	0			M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.1005C>T	22.37:g.42523617G>A			Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2D-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.I335	ENST00000360608.5	37	c.1005	CCDS46721.1	22																																																																																			CYP2D6	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I	ENSG00000100197		0.612	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CYP2D6	HGNC	protein_coding	OTTHUMT00000320525.1	-	0.00	59	0	G			42523617	-1	tier1	rs199980688	no_errors	ENST00000360608	ensembl	human	known	74_37	silent	8.89	41	4	SNP	0.982	A
CYTIP	9595	genome.wustl.edu	37	2	158272436	158272436	+	Missense_Mutation	SNP	G	G	A	rs367635230		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr2:158272436G>A	ENST00000264192.3	-	8	954	c.833C>T	c.(832-834)aCg>aTg	p.T278M	CYTIP_ENST00000540637.1_Missense_Mutation_p.T172M	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	278	Ser-rich.			T -> Q (in Ref. 6; AAA16575). {ECO:0000305}.	regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						ATCTGTACTCGTCTGCCGACT	0.542																																																	0													98.0	91.0	93.0					2																	158272436		2203	4300	6503	SO:0001583	missense	0			L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"""cytohesin binding protein HE"", ""cytohesin binder and regulator"""	604448	"""pleckstrin homology, Sec7 and coiled-coil domains, binding protein"""	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.833C>T	2.37:g.158272436G>A	ENSP00000264192:p.Thr278Met		B4DWH9|Q15630|Q8NE32	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.T278M	ENST00000264192.3	37	c.833	CCDS2204.1	2	.	.	.	.	.	.	.	.	.	.	G	28.2	4.896619	0.91962	.	.	ENSG00000115165	ENST00000264192;ENST00000540637	T;T	0.46451	2.17;0.87	5.96	5.96	0.96718	.	0.307228	0.35067	N	0.003468	T	0.57917	0.2086	M	0.63428	1.95	0.36972	D	0.89387	D	0.89917	1.0	P	0.54706	0.759	T	0.61840	-0.6980	10	0.52906	T	0.07	-7.0724	19.9958	0.97383	0.0:0.0:1.0:0.0	.	278	O60759	CYTIP_HUMAN	M	278;172	ENSP00000264192:T278M;ENSP00000440801:T172M	ENSP00000264192:T278M	T	-	2	0	CYTIP	157980682	0.998000	0.40836	0.994000	0.49952	0.945000	0.59286	4.193000	0.58385	2.826000	0.97356	0.655000	0.94253	ACG	CYTIP	-	NULL	ENSG00000115165		0.542	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYTIP	HGNC	protein_coding	OTTHUMT00000254926.1	-	0.00	30	0	G	NM_004288		158272436	-1	tier1	-	no_errors	ENST00000264192	ensembl	human	known	74_37	missense	46.67	8	7	SNP	0.998	A
DACH2	117154	genome.wustl.edu	37	X	86069759	86069759	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chrX:86069759G>A	ENST00000373125.4	+	10	1606	c.1606G>A	c.(1606-1608)Gaa>Aaa	p.E536K	DACH2_ENST00000508860.1_Missense_Mutation_p.E369K|DACH2_ENST00000510272.1_Missense_Mutation_p.E317K|DACH2_ENST00000373131.1_Missense_Mutation_p.E523K	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	536					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CTTGGAATTTGAATCAAAGCG	0.433																																																	0													62.0	57.0	59.0					X																	86069759		2203	4300	6503	SO:0001583	missense	0			AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1606G>A	X.37:g.86069759G>A	ENSP00000362217:p.Glu536Lys		B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.E536K	ENST00000373125.4	37	c.1606	CCDS14455.1	X	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887579	0.91814	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.88124	-2.3;-2.34	4.76	4.76	0.60689	.	0.000000	0.64402	D	0.000003	D	0.93132	0.7813	M	0.75615	2.305	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;0.998;0.998	D;D;D;D	0.91635	0.999;0.999;0.991;0.989	D	0.94175	0.7427	10	0.87932	D	0	.	17.002	0.86383	0.0:0.0:1.0:0.0	.	402;536;523;536	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	K	536;523;536;369;317;369;201	ENSP00000362223:E523K;ENSP00000362217:E536K	ENSP00000345134:E536K	E	+	1	0	DACH2	85956415	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.288000	0.96055	1.932000	0.55993	0.415000	0.27848	GAA	DACH2	-	NULL	ENSG00000126733		0.433	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACH2	HGNC	protein_coding	OTTHUMT00000359266.1	-	0.00	41	0	G	NM_053281		86069759	+1	tier1	-	no_errors	ENST00000373125	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	A
DBNL	28988	genome.wustl.edu	37	7	44089906	44089906	+	Intron	SNP	G	G	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr7:44089906G>A	ENST00000448521.1	+	2	237				DBNL_ENST00000468694.1_Intron|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000494774.1_Intron|DBNL_ENST00000456905.1_Intron|DBNL_ENST00000440166.1_Intron|DBNL_ENST00000490734.2_Intron|DBNL_ENST00000452943.1_Intron	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like						activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|endocytosis (GO:0006897)|immune system process (GO:0002376)|neuron projection morphogenesis (GO:0048812)|podosome assembly (GO:0071800)|Rac protein signal transduction (GO:0016601)|synapse assembly (GO:0007416)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|podosome (GO:0002102)|postsynaptic density (GO:0014069)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|enzyme activator activity (GO:0008047)			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						ATGGACTCAGGGACACCAGGA	0.567																																					NSCLC(68;573 1327 18604 34760 37992)												0													105.0	97.0	100.0					7																	44089906		2203	4300	6503	SO:0001627	intron_variant	0			AF151364	CCDS34622.1, CCDS34623.1, CCDS47579.1, CCDS64633.1, CCDS64634.1	7p13	2004-07-22			ENSG00000136279	ENSG00000136279			2696	protein-coding gene	gene with protein product		610106				10087302	Standard	NM_014063		Approved	SH3P7, HIP-55	uc003tjq.4	Q9UJU6	OTTHUMG00000155350	ENST00000448521.1:c.139+27G>A	7.37:g.44089906G>A			A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72	RNA	SNP	-	NULL	ENST00000448521.1	37	NULL	CCDS34623.1	7																																																																																			DBNL	-	-	ENSG00000136279		0.567	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DBNL	HGNC	protein_coding	OTTHUMT00000339572.2	-	0.00	46	0	G	NM_014063		44089906	+1	tier1	-	no_errors	ENST00000497184	ensembl	human	known	74_37	rna	28.21	28	11	SNP	0.000	A
DCN	1634	genome.wustl.edu	37	12	91572284	91572284	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:91572284C>T	ENST00000052754.5	-	2	547	c.46G>A	c.(46-48)Gct>Act	p.A16T	DCN_ENST00000441303.2_Missense_Mutation_p.A16T|DCN_ENST00000228329.5_Missense_Mutation_p.A16T|DCN_ENST00000548768.1_5'Flank|DCN_ENST00000546370.1_Missense_Mutation_p.A16T|DCN_ENST00000547568.2_Missense_Mutation_p.A16T|DCN_ENST00000551354.1_Missense_Mutation_p.A16T|DCN_ENST00000425043.1_Missense_Mutation_p.A16T|DCN_ENST00000550099.1_Missense_Mutation_p.A16T|DCN_ENST00000393155.1_Missense_Mutation_p.A16T|DCN_ENST00000552962.1_Missense_Mutation_p.A16T|DCN_ENST00000420120.2_Missense_Mutation_p.A16T|DCN_ENST00000546745.1_Missense_Mutation_p.A16T|DCN_ENST00000303320.3_Missense_Mutation_p.A16T|DCN_ENST00000456569.2_Missense_Mutation_p.A16T	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	16					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|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 disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						AACGGTCCAGCCCAGGAAACT	0.463											OREG0022021	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													89.0	89.0	89.0					12																	91572284		2203	4300	6503	SO:0001583	missense	0			AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	2705	protein-coding gene	gene with protein product	"""decorin proteoglycan"""	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.46G>A	12.37:g.91572284C>T	ENSP00000052754:p.Ala16Thr	1283	Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan	p.A16T	ENST00000052754.5	37	c.46	CCDS9039.1	12	.	.	.	.	.	.	.	.	.	.	C	31	5.093345	0.94149	.	.	ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000303320;ENST00000393155;ENST00000425043;ENST00000552962;ENST00000420120;ENST00000441303;ENST00000547568;ENST00000546391;ENST00000456569;ENST00000547937;ENST00000552145;ENST00000550563;ENST00000549513;ENST00000546370;ENST00000546745;ENST00000550099;ENST00000551354	T;T;D;T;T;T;T;D;T;T;T;T;T;T	0.81739	0.31;-1.0;-1.53;0.31;-0.13;0.31;-1.0;-1.53;-0.13;-0.02;-0.0;-0.09;-0.0;-1.04	5.91	5.91	0.95273	.	0.045723	0.85682	D	0.000000	D	0.89574	0.6754	M	0.82193	2.58	0.30753	N	0.744954	B;D;D;D;P	0.69078	0.365;0.987;0.997;0.983;0.944	B;P;D;P;P	0.66847	0.115;0.865;0.947;0.808;0.651	D	0.88879	0.3338	10	0.62326	D	0.03	.	15.0603	0.71947	0.1419:0.8581:0.0:0.0	.	16;16;16;16;16	P07585;P07585-5;P07585-4;P07585-3;P07585-2	PGS2_HUMAN;.;.;.;.	T	16	ENSP00000052754:A16T;ENSP00000228329:A16T;ENSP00000302031:A16T;ENSP00000376862:A16T;ENSP00000401021:A16T;ENSP00000447654:A16T;ENSP00000413723:A16T;ENSP00000399815:A16T;ENSP00000447674:A16T;ENSP00000446530:A16T;ENSP00000449782:A16T;ENSP00000447886:A16T;ENSP00000449014:A16T;ENSP00000449438:A16T	ENSP00000052754:A16T	A	-	1	0	DCN	90096415	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.408000	0.66368	2.805000	0.96524	0.460000	0.39030	GCT	DCN	-	pirsf_SLRP_I_decor/aspor/byglycan	ENSG00000011465		0.463	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCN	HGNC	protein_coding	OTTHUMT00000406799.3		0.00	67	0	C	NM_133507		91572284	-1			no_errors	ENST00000052754	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	T
DDX1	1653	genome.wustl.edu	37	2	15757366	15757366	+	Splice_Site	SNP	A	A	G			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr2:15757366A>G	ENST00000381341.2	+	16	1406		c.e16-1		DDX1_ENST00000233084.3_Splice_Site			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1						ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)	p.?(3)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		GCTTTTTTTCAGGTAGATATA	0.343																																																	3	Unknown(3)	haematopoietic_and_lymphoid_tissue(3)											156.0	156.0	156.0					2																	15757366		2203	4300	6503	SO:0001630	splice_region_variant	0			X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"""DEAD-boxes"""	2734	protein-coding gene	gene with protein product		601257	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"""			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.1018-1A>G	2.37:g.15757366A>G			B4DME8|B4DPN6	Splice_Site	SNP	-	e15-2	ENST00000381341.2	37	c.1018-2	CCDS1686.1	2	.	.	.	.	.	.	.	.	.	.	A	16.69	3.193050	0.58017	.	.	ENSG00000079785	ENST00000381341;ENST00000233084;ENST00000543614	.	.	.	5.78	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1281	0.59366	0.8663:0.1337:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DDX1	15674817	1.000000	0.71417	0.961000	0.40146	0.824000	0.46624	9.019000	0.93662	1.001000	0.39076	0.482000	0.46254	.	DDX1	-	-	ENSG00000079785		0.343	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX1	HGNC	protein_coding	OTTHUMT00000207141.2		0.00	81	0	A	NM_004939	Intron	15757366	+1			no_errors	ENST00000233084	ensembl	human	known	74_37	splice_site	5.00	38	2	SNP	1.000	G
DEAF1	10522	genome.wustl.edu	37	11	684948	684948	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr11:684948G>T	ENST00000382409.3	-	6	1304	c.820C>A	c.(820-822)Cct>Act	p.P274T	DEAF1_ENST00000338675.6_Missense_Mutation_p.P227H	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	274					anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GCAGCGTGAGGGTTTAAGATC	0.498																																																	0													84.0	68.0	74.0					11																	684948		2029	3840	5869	SO:0001583	missense	0			AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"""Zinc fingers, MYND-type"""	14677	protein-coding gene	gene with protein product		602635	"""deformed epidermal autoregulatory factor 1 (Drosophila)"""			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.820C>A	11.37:g.684948G>T	ENSP00000371846:p.Pro274Thr		A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	pfam_SAND_dom,pfam_Znf_MYND,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_Znf_MYND,pfscan_SAND_dom	p.P274T	ENST00000382409.3	37	c.820	CCDS31327.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.952004|3.952004	0.73787|0.73787	.|.	.|.	ENSG00000177030|ENSG00000177030	ENST00000338675|ENST00000382409;ENST00000359958;ENST00000388804	.|T	.|0.62788	.|-0.0	4.46|4.46	4.46|4.46	0.54185|0.54185	.|SAND domain-like (2);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.76564|0.76564	0.4005|0.4005	M|M	0.61703|0.61703	1.905|1.905	0.28547|0.28547	N|N	0.911817|0.911817	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	T|T	0.72475|0.72475	-0.4282|-0.4282	7|10	0.51188|0.62326	T|D	0.08|0.03	-14.6431|-14.6431	16.2708|16.2708	0.82618|0.82618	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|274	.|O75398	.|DEAF1_HUMAN	H|T	227|274;260;197	.|ENSP00000371846:P274T	ENSP00000341902:P227H|ENSP00000353043:P260T	P|P	-|-	2|1	0|0	DEAF1|DEAF1	674948|674948	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.893000|0.893000	0.52053|0.52053	8.919000|8.919000	0.92770|0.92770	2.199000|2.199000	0.70637|0.70637	0.491000|0.491000	0.48974|0.48974	CCC|CCT	DEAF1	-	superfamily_SAND_dom-like	ENSG00000177030		0.498	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEAF1	HGNC	protein_coding	OTTHUMT00000383614.3	-	0.00	34	0	G	NM_021008		684948	-1	tier1	-	no_errors	ENST00000382409	ensembl	human	known	74_37	missense	23.53	13	4	SNP	1.000	T
DISP1	84976	genome.wustl.edu	37	1	223116621	223116621	+	Silent	SNP	G	G	A	rs371368815	byFrequency	TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:223116621G>A	ENST00000284476.6	+	2	620	c.456G>A	c.(454-456)ccG>ccA	p.P152P	DISP1_ENST00000495684.1_Intron|DISP1_ENST00000360254.2_Silent_p.P152P	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	152					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TGCATCATCCGTGGCCTGACC	0.468													G|||	4	0.000798722	0.0	0.0	5008	,	,		24780	0.0		0.0	False		,,,				2504	0.0041																0								G		0,4406		0,0,2203	139.0	105.0	117.0		456	0.3	0.8	1		117	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DISP1	NM_032890.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		152/1525	223116621	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.456G>A	1.37:g.223116621G>A			Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Silent	SNP	NULL	p.P152	ENST00000284476.6	37	c.456	CCDS1536.1	1																																																																																			DISP1	-	NULL	ENSG00000154309		0.468	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DISP1	HGNC	protein_coding	OTTHUMT00000092512.1		0.00	36	0	G	NM_032890		223116621	+1			no_errors	ENST00000360254	ensembl	human	putative	74_37	silent	10.00	18	2	SNP	0.978	A
DLG2	1740	genome.wustl.edu	37	11	83344363	83344363	+	Missense_Mutation	SNP	C	C	T	rs149941661		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr11:83344363C>T	ENST00000532653.1	-	14	1818	c.1516G>A	c.(1516-1518)Gct>Act	p.A506T	DLG2_ENST00000330014.6_Missense_Mutation_p.A445T|DLG2_ENST00000398309.2_Missense_Mutation_p.A506T|DLG2_ENST00000531015.1_Missense_Mutation_p.A473T|DLG2_ENST00000376104.2_Missense_Mutation_p.A611T|DLG2_ENST00000530800.1_Missense_Mutation_p.A15T|DLG2_ENST00000524982.1_Missense_Mutation_p.A506T|DLG2_ENST00000426717.2_5'UTR|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000280241.8_Missense_Mutation_p.A545T|DLG2_ENST00000543673.1_Missense_Mutation_p.A611T|DLG2_ENST00000418306.2_Missense_Mutation_p.A403T|DLG2_ENST00000537455.1_Missense_Mutation_p.A260T|DLG2_ENST00000404783.3_5'UTR|DLG2_ENST00000398304.1_5'UTR			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	244	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCAAATCGAGCGTAATCTGGG	0.522																																																	0													97.0	96.0	96.0					11																	83344363		1987	4162	6149	SO:0001583	missense	0			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.1516G>A	11.37:g.83344363C>T	ENSP00000435849:p.Ala506Thr		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.A611T	ENST00000532653.1	37	c.1831		11	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741304	0.69304	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000537455;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000530800;ENST00000434967	T;T;T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	6.16	6.16	0.99307	PDZ/DHR/GLGF (1);	0.077659	0.49916	D	0.000133	T	0.32255	0.0823	N	0.14661	0.345	0.80722	D	1	P;P;B;P;B;B;P	0.43662	0.454;0.624;0.025;0.482;0.231;0.025;0.814	B;B;B;B;B;B;B	0.36244	0.075;0.136;0.011;0.136;0.043;0.012;0.22	T	0.07271	-1.0781	9	.	.	.	.	19.6313	0.95704	0.0:1.0:0.0:0.0	.	473;506;506;445;611;506;403	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;DLG2_HUMAN;.	T	506;611;403;611;545;445;260;506;506;611;473;15;17	ENSP00000381355:A506T;ENSP00000365272:A611T;ENSP00000402275:A403T;ENSP00000441994:A611T;ENSP00000280241:A545T;ENSP00000381353:A445T;ENSP00000443248:A260T;ENSP00000432894:A506T;ENSP00000435849:A506T;ENSP00000433848:A473T	.	A	-	1	0	DLG2	83022011	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.507000	0.53371	2.937000	0.99478	0.650000	0.86243	GCT	DLG2	-	superfamily_PDZ,pirsf_M-assoc_guanylate_kinase	ENSG00000150672		0.522	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	DLG2	HGNC	protein_coding	OTTHUMT00000259253.2		0.00	112	0	C	NM_001364		83344363	-1			no_errors	ENST00000376104	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T
DLGAP2	9228	genome.wustl.edu	37	8	1645353	1645353	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr8:1645353C>T	ENST00000421627.2	+	11	2731	c.2597C>T	c.(2596-2598)gCc>gTc	p.A866V		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	945					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CAGGACCTGGCCGGCTACTGG	0.647																																																	0													30.0	35.0	33.0					8																	1645353		2001	4158	6159	SO:0001583	missense	0			AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2597C>T	8.37:g.1645353C>T	ENSP00000400258:p.Ala866Val		A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	pfam_GKAP	p.A866V	ENST00000421627.2	37	c.2597	CCDS47760.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.490819|5.490819	0.96339|0.96339	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.21932|.	1.98|.	4.91|4.91	4.91|4.91	0.64330|0.64330	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83207|0.83207	0.5204|0.5204	M|M	0.87971|0.87971	2.92|2.92	0.58432|0.58432	D|D	0.999997|0.999997	D;D|.	0.89917|.	1.0;0.982|.	D;D|.	0.91635|.	0.999;0.983|.	D|D	0.86044|0.86044	0.1521|0.1521	10|5	0.87932|.	D|.	0|.	-11.0408|-11.0408	18.0887|18.0887	0.89466|0.89466	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	931;945|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	V|S	897;866|869	ENSP00000400258:A866V|.	ENSP00000348366:A897V|.	A|P	+|+	2|1	0|0	DLGAP2|DLGAP2	1632760|1632760	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.984000|0.984000	0.73092|0.73092	7.404000|7.404000	0.79996|0.79996	2.270000|2.270000	0.75569|0.75569	0.561000|0.561000	0.74099|0.74099	GCC|CCG	DLGAP2	-	pfam_GKAP	ENSG00000198010		0.647	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP2	HGNC	protein_coding	OTTHUMT00000374478.1	-	0.00	75	0	C	NM_004745		1645353	+1	tier1	-	no_errors	ENST00000421627	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	T
DNAH11	8701	genome.wustl.edu	37	7	21584746	21584746	+	Missense_Mutation	SNP	T	T	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr7:21584746T>A	ENST00000409508.3	+	2	505	c.474T>A	c.(472-474)caT>caA	p.H158Q	DNAH11_ENST00000328843.6_Missense_Mutation_p.H158Q	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	158	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTCTTGGACATGTATCTGCTT	0.338									Kartagener syndrome																																								0													74.0	70.0	71.0					7																	21584746		1839	4090	5929	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.474T>A	7.37:g.21584746T>A	ENSP00000475939:p.His158Gln		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.H158Q	ENST00000409508.3	37	c.474		7	.	.	.	.	.	.	.	.	.	.	T	0.065	-1.213919	0.01555	.	.	ENSG00000105877	ENST00000328843	T	0.21543	2.0	5.6	1.94	0.25998	.	0.414073	0.27176	N	0.020572	T	0.10165	0.0249	N	0.13235	0.315	0.30027	N	0.813801	B	0.06786	0.001	B	0.09377	0.004	T	0.23833	-1.0177	10	0.22109	T	0.4	.	7.2824	0.26318	0.0:0.2558:0.0:0.7442	.	158	Q96DT5	DYH11_HUMAN	Q	158	ENSP00000330671:H158Q	ENSP00000330671:H158Q	H	+	3	2	DNAH11	21551271	0.956000	0.32656	0.939000	0.37840	0.232000	0.25224	-0.068000	0.11561	0.160000	0.19432	0.533000	0.62120	CAT	DNAH11	-	NULL	ENSG00000105877		0.338	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	-	0.00	69	0	T	NM_003777		21584746	+1	tier1	-	no_errors	ENST00000328843	ensembl	human	known	74_37	missense	20.41	39	10	SNP	0.863	A
DNAH7	56171	genome.wustl.edu	37	2	196726445	196726445	+	Missense_Mutation	SNP	T	T	C			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr2:196726445T>C	ENST00000312428.6	-	42	7832	c.7732A>G	c.(7732-7734)Aga>Gga	p.R2578G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2578	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTTACCTTCTTTTCTTTTCT	0.294																																																	0													41.0	39.0	40.0					2																	196726445		1798	4056	5854	SO:0001583	missense	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.7732A>G	2.37:g.196726445T>C	ENSP00000311273:p.Arg2578Gly		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.R2578G	ENST00000312428.6	37	c.7732	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	T	12.84	2.057503	0.36277	.	.	ENSG00000118997	ENST00000312428	T	0.39997	1.05	4.81	4.81	0.61882	.	0.062767	0.64402	D	0.000010	T	0.67335	0.2882	M	0.93763	3.455	0.80722	D	1	D	0.58620	0.983	D	0.65773	0.938	T	0.72988	-0.4124	10	0.66056	D	0.02	.	6.761	0.23540	0.1491:0.0:0.1546:0.6963	.	2578	Q8WXX0	DYH7_HUMAN	G	2578	ENSP00000311273:R2578G	ENSP00000311273:R2578G	R	-	1	2	DNAH7	196434690	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	1.380000	0.34351	2.012000	0.59069	0.455000	0.32223	AGA	DNAH7	-	superfamily_P-loop_NTPase	ENSG00000118997		0.294	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3		0.00	28	0	T	NM_018897		196726445	-1			no_errors	ENST00000312428	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	C
DOCK10	55619	genome.wustl.edu	37	2	225662559	225662559	+	Missense_Mutation	SNP	A	A	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr2:225662559A>T	ENST00000258390.7	-	42	4701	c.4634T>A	c.(4633-4635)tTt>tAt	p.F1545Y	DOCK10_ENST00000409592.3_Missense_Mutation_p.F1539Y	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1545					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CTTGCATACAAACAGTCTCAA	0.408																																																	0													185.0	179.0	181.0					2																	225662559		1936	4140	6076	SO:0001583	missense	0			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.4634T>A	2.37:g.225662559A>T	ENSP00000258390:p.Phe1545Tyr		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.F1545Y	ENST00000258390.7	37	c.4634	CCDS46528.1	2	.	.	.	.	.	.	.	.	.	.	A	27.1	4.802006	0.90538	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.71698	-0.59;-0.59	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.83046	0.5169	M	0.74647	2.275	0.47374	D	0.999406	P;P;P;D	0.69078	0.872;0.709;0.869;0.997	P;B;P;D	0.66196	0.512;0.259;0.722;0.942	D	0.85142	0.0981	10	0.72032	D	0.01	.	16.0499	0.80749	1.0:0.0:0.0:0.0	.	1545;399;1539;207	Q96BY6;B4DF07;B3FL70;B4DEY4	DOC10_HUMAN;.;.;.	Y	1539;1545;83	ENSP00000386694:F1539Y;ENSP00000258390:F1545Y	ENSP00000258390:F1545Y	F	-	2	0	DOCK10	225370803	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.730000	0.91510	2.193000	0.70182	0.533000	0.62120	TTT	DOCK10	-	superfamily_ARM-type_fold	ENSG00000135905		0.408	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	HGNC	protein_coding	OTTHUMT00000331246.1	-	0.00	81	0	A			225662559	-1	tier1	-	no_errors	ENST00000258390	ensembl	human	known	74_37	missense	13.64	19	3	SNP	1.000	T
DSG1	1828	genome.wustl.edu	37	18	28913559	28913559	+	Missense_Mutation	SNP	G	G	C	rs201719724	byFrequency	TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr18:28913559G>C	ENST00000257192.4	+	7	904	c.692G>C	c.(691-693)gGc>gCc	p.G231A		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	231	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TAGCAATACGGCCAGTATGCT	0.423																																																	0													114.0	104.0	108.0					18																	28913559		2203	4300	6503	SO:0001583	missense	0			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.692G>C	18.37:g.28913559G>C	ENSP00000257192:p.Gly231Ala		B7Z845	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmosomal_cadherin	p.G231A	ENST00000257192.4	37	c.692	CCDS11896.1	18	.	.	.	.	.	.	.	.	.	.	G	9.089	1.001163	0.19121	.	.	ENSG00000134760	ENST00000257192	T	0.61158	0.13	5.82	2.78	0.32641	Cadherin (4);Cadherin-like (1);	0.663946	0.14736	N	0.301475	T	0.34308	0.0893	N	0.01424	-0.875	0.09310	N	0.999999	B	0.11235	0.004	B	0.18871	0.023	T	0.25710	-1.0124	10	0.42905	T	0.14	.	18.4867	0.90831	0.0:0.3423:0.6577:0.0	.	231	Q02413	DSG1_HUMAN	A	231	ENSP00000257192:G231A	ENSP00000257192:G231A	G	+	2	0	DSG1	27167557	0.983000	0.35010	0.662000	0.29724	0.366000	0.29705	2.275000	0.43399	0.751000	0.32900	0.655000	0.94253	GGC	DSG1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000134760		0.423	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG1	HGNC	protein_coding	OTTHUMT00000254947.1		0.00	56	0	G	NM_001942		28913559	+1			no_errors	ENST00000257192	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.102	C
DTWD1	56986	genome.wustl.edu	37	15	49926911	49926911	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr15:49926911G>A	ENST00000251250.6	+	5	794	c.587G>A	c.(586-588)gGc>gAc	p.G196D	DTWD1_ENST00000403028.3_Missense_Mutation_p.G196D|DTWD1_ENST00000559223.1_3'UTR|DTWD1_ENST00000558653.1_Missense_Mutation_p.G196D|DTWD1_ENST00000415425.1_Missense_Mutation_p.G109D	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	196										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		AAGTGCAAAGGCACAACACTG	0.333																																																	0													56.0	64.0	61.0					15																	49926911		2193	4295	6488	SO:0001583	missense	0			BC032535	CCDS10132.1	15q21.2	2005-08-09			ENSG00000104047	ENSG00000104047			30926	protein-coding gene	gene with protein product							Standard	NM_020234		Approved	MDS009, MGC111207	uc001zxs.3	Q8N5C7	OTTHUMG00000131567	ENST00000251250.6:c.587G>A	15.37:g.49926911G>A	ENSP00000251250:p.Gly196Asp		Q567Q3|Q8WVG9|Q9NRU6	Missense_Mutation	SNP	pfam_DTW	p.G196D	ENST00000251250.6	37	c.587	CCDS10132.1	15	.	.	.	.	.	.	.	.	.	.	G	6.058	0.379036	0.11466	.	.	ENSG00000104047	ENST00000403028;ENST00000251250;ENST00000415425	T;T	0.22336	1.96;1.96	4.81	-0.963	0.10330	DTW (1);	0.874076	0.10219	N	0.701097	T	0.11281	0.0275	N	0.21583	0.68	0.22280	N	0.999236	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.36480	-0.9746	9	.	.	.	0.0	5.5048	0.16848	0.4242:0.0:0.4497:0.1262	.	109;196	Q8N5C7-2;Q8N5C7	.;DTWD1_HUMAN	D	196;196;109	ENSP00000385399:G196D;ENSP00000251250:G196D	.	G	+	2	0	DTWD1	47714203	0.003000	0.15002	0.004000	0.12327	0.738000	0.42128	0.196000	0.17176	-0.125000	0.11703	0.655000	0.94253	GGC	DTWD1	-	pfam_DTW	ENSG00000104047		0.333	DTWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTWD1	HGNC	protein_coding	OTTHUMT00000254431.2		0.00	74	0	G	NM_020234		49926911	+1			no_errors	ENST00000251250	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.011	A
DTX4	23220	genome.wustl.edu	37	11	58949853	58949853	+	Missense_Mutation	SNP	G	G	A	rs370919698		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr11:58949853G>A	ENST00000227451.3	+	2	957	c.853G>A	c.(853-855)Gga>Aga	p.G285R	DTX4_ENST00000532982.1_Missense_Mutation_p.G179R	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	285					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.G179R(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CAGCAAGACCGGAAGGGTGGC	0.637																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)						G	ARG/GLY	0,3988		0,0,1994	31.0	40.0	37.0		853	4.5	0.9	11		37	1,8317		0,1,4158	no	missense	DTX4	NM_015177.1	125	0,1,6152	AA,AG,GG		0.012,0.0,0.0081	possibly-damaging	285/620	58949853	1,12305	1994	4159	6153	SO:0001583	missense	0			AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"""RING-type (C3HC4) zinc fingers"""	29151	protein-coding gene	gene with protein product			"""deltex 4 homolog (Drosophila)"", ""deltex homolog 4 (Drosophila)"""			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.853G>A	11.37:g.58949853G>A	ENSP00000227451:p.Gly285Arg		Q0VF38	Missense_Mutation	SNP	pfam_WWE-dom,pfam_Znf_C3HC4_RING-type,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.G285R	ENST00000227451.3	37	c.853	CCDS44612.1	11	.	.	.	.	.	.	.	.	.	.	G	13.39	2.222617	0.39300	0.0	1.2E-4	ENSG00000110042	ENST00000532982;ENST00000227451	T;T	0.12039	2.72;2.92	4.53	4.53	0.55603	.	0.351406	0.26268	N	0.025360	T	0.17023	0.0409	L	0.51422	1.61	0.31899	N	0.616208	D	0.57257	0.979	P	0.50192	0.634	T	0.05146	-1.0903	10	0.26408	T	0.33	.	8.4077	0.32625	0.1048:0.0:0.8952:0.0	.	285	Q9Y2E6	DTX4_HUMAN	R	179;285	ENSP00000434055:G179R;ENSP00000227451:G285R	ENSP00000227451:G285R	G	+	1	0	DTX4	58706429	0.698000	0.27777	0.939000	0.37840	0.930000	0.56654	0.580000	0.23803	2.358000	0.79984	0.655000	0.94253	GGA	DTX4	-	NULL	ENSG00000110042		0.637	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX4	HGNC	protein_coding	OTTHUMT00000394228.1		0.00	88	0	G	XM_166213		58949853	+1			no_errors	ENST00000227451	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.946	A
DYNC1H1	1778	genome.wustl.edu	37	14	102482791	102482791	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr14:102482791C>T	ENST00000360184.4	+	37	7743	c.7579C>T	c.(7579-7581)Ccc>Tcc	p.P2527S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2527					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CGTGCCTCTGCCCACTGCGCC	0.498																																																	0													98.0	91.0	93.0					14																	102482791		2203	4300	6503	SO:0001583	missense	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.7579C>T	14.37:g.102482791C>T	ENSP00000348965:p.Pro2527Ser		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.P2527S	ENST00000360184.4	37	c.7579	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	C	29.6	5.022079	0.93462	.	.	ENSG00000197102	ENST00000360184	T	0.58797	0.31	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.77061	0.4075	M	0.79258	2.445	0.80722	D	1	D	0.71674	0.998	D	0.66979	0.948	T	0.79072	-0.1953	10	0.66056	D	0.02	.	19.4924	0.95056	0.0:1.0:0.0:0.0	.	2527	Q14204	DYHC1_HUMAN	S	2527	ENSP00000348965:P2527S	ENSP00000348965:P2527S	P	+	1	0	DYNC1H1	101552544	1.000000	0.71417	0.996000	0.52242	0.959000	0.62525	7.308000	0.78929	2.692000	0.91855	0.561000	0.74099	CCC	DYNC1H1	-	NULL	ENSG00000197102		0.498	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1		0.00	48	0	C	NM_001376		102482791	+1			no_errors	ENST00000360184	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T
EHBP1	23301	genome.wustl.edu	37	2	63176138	63176138	+	Missense_Mutation	SNP	A	A	C			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr2:63176138A>C	ENST00000263991.5	+	14	2744	c.2262A>C	c.(2260-2262)aaA>aaC	p.K754N	EHBP1_ENST00000354487.3_Missense_Mutation_p.K719N|EHBP1_ENST00000405015.3_Missense_Mutation_p.K719N|EHBP1_ENST00000405289.1_Missense_Mutation_p.K719N|EHBP1_ENST00000431489.1_Missense_Mutation_p.K719N	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	754						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			CTCCTATCAAAAAAACAAGTT	0.373																																																	0													41.0	45.0	44.0					2																	63176138		2202	4299	6501	SO:0001583	missense	0			AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.2262A>C	2.37:g.63176138A>C	ENSP00000263991:p.Lys754Asn		O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.K754N	ENST00000263991.5	37	c.2262	CCDS1872.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.25|10.25	1.299413|1.299413	0.23650|0.23650	.|.	.|.	ENSG00000115504|ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289|ENST00000454124	T;T;T;T;T|T	0.73789|0.45668	-0.78;-0.78;-0.78;-0.78;-0.78|0.89	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.550760|0.550760	0.20194|0.20194	N|N	0.097244|0.097244	T|T	0.45316|0.45316	0.1336|0.1336	L|L	0.46157|0.46157	1.445|1.445	0.27291|0.27291	N|N	0.957838|0.957838	B;B;B|.	0.26258|.	0.0;0.145;0.0|.	B;B;B|.	0.21151|.	0.004;0.033;0.002|.	T|T	0.44081|0.44081	-0.9351|-0.9351	10|8	0.24483|0.39692	T|T	0.36|0.17	.|.	12.193|12.193	0.54282|0.54282	0.9319:0.0:0.068:0.0|0.9319:0.0:0.068:0.0	.|.	719;719;754|.	Q8NDI1-2;Q8NDI1-3;Q8NDI1|.	.;.;EHBP1_HUMAN|.	N|T	719;719;754;719;719|24	ENSP00000384143:K719N;ENSP00000403783:K719N;ENSP00000263991:K754N;ENSP00000346482:K719N;ENSP00000385524:K719N|ENSP00000396186:K24T	ENSP00000263991:K754N|ENSP00000396186:K24T	K|K	+|+	3|2	2|0	EHBP1|EHBP1	63029642|63029642	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.404000|0.404000	0.30871|0.30871	1.875000|1.875000	0.39578|0.39578	2.261000|2.261000	0.74972|0.74972	0.533000|0.533000	0.62120|0.62120	AAA|AAA	EHBP1	-	NULL	ENSG00000115504		0.373	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHBP1	HGNC	protein_coding	OTTHUMT00000251616.1	-	0.00	45	0	A	NM_015252		63176138	+1	tier1	-	no_errors	ENST00000263991	ensembl	human	known	74_37	missense	17.39	19	4	SNP	0.942	C
EIF4A2	1974	genome.wustl.edu	37	3	186507053	186507053	+	Missense_Mutation	SNP	A	A	G			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr3:186507053A>G	ENST00000323963.5	+	11	1283	c.1219A>G	c.(1219-1221)Att>Gtt	p.I407V	SNORA81_ENST00000408493.2_RNA|EIF4A2_ENST00000440191.2_Missense_Mutation_p.I408V|SNORA63_ENST00000363450.1_RNA|SNORA4_ENST00000584302.1_RNA|SNORA63_ENST00000363548.1_RNA|EIF4A2_ENST00000356531.5_Missense_Mutation_p.I312V			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	407	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)|regulation of translational initiation (GO:0006446)|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)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		GGCTGACCTTATTTAATTCCT	0.408			T	BCL6	NHL																																			Dom	yes		3	3q27.3	1974	"""eukaryotic translation initiation factor 4A, isoform 2"""		L	0													141.0	147.0	145.0					3																	186507053		2203	4300	6503	SO:0001583	missense	0			D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"""DEAD-boxes"""	3284	protein-coding gene	gene with protein product		601102	"""eukaryotic translation initiation factor 4A, isoform 2"""	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.1219A>G	3.37:g.186507053A>G	ENSP00000326381:p.Ile407Val		D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.I408V	ENST00000323963.5	37	c.1222	CCDS3282.1	3	.	.	.	.	.	.	.	.	.	.	A	12.64	1.999184	0.35226	.	.	ENSG00000156976	ENST00000323963;ENST00000440191;ENST00000356531	T;T;T	0.32988	1.7;1.71;1.43	5.77	5.77	0.91146	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.16727	0.0402	N	0.03608	-0.345	0.80722	D	1	B;B;B	0.10296	0.002;0.003;0.002	B;B;B	0.12837	0.004;0.008;0.006	T	0.06588	-1.0818	10	0.52906	T	0.07	.	14.3411	0.66627	1.0:0.0:0.0:0.0	.	312;408;407	Q9NZE6;Q14240-2;Q14240	.;.;IF4A2_HUMAN	V	407;408;312	ENSP00000326381:I407V;ENSP00000398370:I408V;ENSP00000348925:I312V	ENSP00000326381:I407V	I	+	1	0	EIF4A2	187989747	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.780000	0.91799	2.326000	0.78906	0.533000	0.62120	ATT	EIF4A2	-	pfscan_Helicase_C	ENSG00000156976		0.408	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4A2	HGNC	protein_coding	OTTHUMT00000344609.1	-	0.00	42	0	A	NM_001967		186507053	+1	tier1	-	no_errors	ENST00000440191	ensembl	human	known	74_37	missense	32.26	21	10	SNP	1.000	G
ELMO2	63916	genome.wustl.edu	37	20	45014770	45014770	+	Missense_Mutation	SNP	G	G	A	rs112131818	byFrequency	TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr20:45014770G>A	ENST00000290246.6	-	9	864	c.670C>T	c.(670-672)Ctc>Ttc	p.L224F	ELMO2_ENST00000372176.1_Missense_Mutation_p.L136F|ELMO2_ENST00000439931.2_Missense_Mutation_p.L224F|ELMO2_ENST00000396391.1_Missense_Mutation_p.L224F|ELMO2_ENST00000445496.2_Missense_Mutation_p.L41F|ELMO2_ENST00000352077.2_Missense_Mutation_p.L222F|ELMO2_ENST00000488853.1_5'UTR	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	224					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				CACACCTGGAGGTGTGAGATG	0.493													G|||	45	0.00898562	0.0318	0.0	5008	,	,		20924	0.001		0.0	False		,,,				2504	0.002																0													115.0	109.0	111.0					20																	45014770		2203	4300	6503	SO:0001583	missense	0			AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.670C>T	20.37:g.45014770G>A	ENSP00000290246:p.Leu224Phe		E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.L224F	ENST00000290246.6	37	c.670	CCDS13398.1	20	.	.	.	.	.	.	.	.	.	.	G	22.4	4.291388	0.80914	.	.	ENSG00000062598	ENST00000290246;ENST00000372176;ENST00000396391;ENST00000439931;ENST00000445496;ENST00000352077;ENST00000425546;ENST00000450812	T;T;T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;0.92;-0.1;0.52;-0.1	4.85	4.85	0.62838	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69151	0.3079	L	0.49571	1.57	0.80722	D	1	P;P;P	0.50156	0.843;0.932;0.91	P;P;P	0.53912	0.737;0.708;0.737	T	0.70396	-0.4883	10	0.49607	T	0.09	-21.0836	17.1413	0.86754	0.0:0.0:1.0:0.0	.	224;224;224	B4DRL5;E9PBG2;Q96JJ3	.;.;ELMO2_HUMAN	F	224;136;224;224;41;222;12;224	ENSP00000290246:L224F;ENSP00000361249:L136F;ENSP00000379673:L224F;ENSP00000396519:L224F;ENSP00000409920:L41F;ENSP00000326172:L222F;ENSP00000388962:L12F;ENSP00000416181:L224F	ENSP00000290246:L224F	L	-	1	0	ELMO2	44448177	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.129000	0.71657	2.526000	0.85167	0.591000	0.81541	CTC	ELMO2	-	pfam_DUF3361,superfamily_ARM-type_fold	ENSG00000062598		0.493	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELMO2	HGNC	protein_coding	OTTHUMT00000080466.1		0.00	28	0	G	NM_022086		45014770	-1			no_errors	ENST00000439931	ensembl	human	known	74_37	missense	26.67	11	4	SNP	1.000	A
ELMO2	63916	genome.wustl.edu	37	20	45014791	45014791	+	Missense_Mutation	SNP	C	C	T	rs140516654	byFrequency	TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr20:45014791C>T	ENST00000290246.6	-	9	843	c.649G>A	c.(649-651)Gtg>Atg	p.V217M	ELMO2_ENST00000372176.1_Missense_Mutation_p.V129M|ELMO2_ENST00000439931.2_Missense_Mutation_p.V217M|ELMO2_ENST00000396391.1_Missense_Mutation_p.V217M|ELMO2_ENST00000445496.2_Missense_Mutation_p.V34M|ELMO2_ENST00000352077.2_Missense_Mutation_p.V215M|ELMO2_ENST00000488853.1_5'UTR	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	217					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				AGCTGTCCCACGGTGATTTCC	0.507													C|||	9	0.00179712	0.0061	0.0	5008	,	,		20517	0.0		0.0	False		,,,				2504	0.001																0													129.0	120.0	123.0					20																	45014791		2203	4300	6503	SO:0001583	missense	0			AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.649G>A	20.37:g.45014791C>T	ENSP00000290246:p.Val217Met		E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.V217M	ENST00000290246.6	37	c.649	CCDS13398.1	20	.	.	.	.	.	.	.	.	.	.	C	28.6	4.932303	0.92389	.	.	ENSG00000062598	ENST00000290246;ENST00000372176;ENST00000396391;ENST00000439931;ENST00000445496;ENST00000352077;ENST00000425546;ENST00000450812	T;T;T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;1.44;0.51;1.42;0.51	4.85	4.85	0.62838	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61236	0.2331	L	0.56769	1.78	0.80722	D	1	D;P;P	0.54772	0.968;0.46;0.769	P;B;B	0.51324	0.666;0.108;0.148	T	0.66333	-0.5950	10	0.72032	D	0.01	-32.7685	17.1413	0.86754	0.0:1.0:0.0:0.0	.	217;217;217	B4DRL5;E9PBG2;Q96JJ3	.;.;ELMO2_HUMAN	M	217;129;217;217;34;215;5;217	ENSP00000290246:V217M;ENSP00000361249:V129M;ENSP00000379673:V217M;ENSP00000396519:V217M;ENSP00000409920:V34M;ENSP00000326172:V215M;ENSP00000388962:V5M;ENSP00000416181:V217M	ENSP00000290246:V217M	V	-	1	0	ELMO2	44448198	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.569000	0.67391	2.526000	0.85167	0.591000	0.81541	GTG	ELMO2	-	pfam_DUF3361,superfamily_ARM-type_fold	ENSG00000062598		0.507	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELMO2	HGNC	protein_coding	OTTHUMT00000080466.1		0.00	29	0	C	NM_022086		45014791	-1			no_errors	ENST00000439931	ensembl	human	known	74_37	missense	26.67	11	4	SNP	1.000	T
MIRLET7BHG	400931	genome.wustl.edu	37	22	46505687	46505687	+	Missense_Mutation	SNP	C	C	T	rs541213839	byFrequency	TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr22:46505687C>T	ENST00000360737.3	+	5	439	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C	MIRLET7A3_ENST00000362116.1_RNA																							GAAGCTCCTGCGCTGGCCTCT	0.657													C|||	3	0.000599042	0.0	0.0	5008	,	,		15781	0.0		0.0	False		,,,				2504	0.0031																0													28.0	32.0	31.0					22																	46505687		691	1591	2282	SO:0001583	missense	0																														ENST00000360737.3:c.280C>T	22.37:g.46505687C>T	ENSP00000353966:p.Arg94Cys			Missense_Mutation	SNP	NULL	p.R94C	ENST00000360737.3	37	c.280		22	.	.	.	.	.	.	.	.	.	.	C	5.115	0.206934	0.09704	.	.	ENSG00000197182	ENST00000360737	.	.	.	1.97	-3.4	0.04853	.	.	.	.	.	T	0.21590	0.0520	.	.	.	.	.	.	D	0.58620	0.983	B	0.38378	0.272	T	0.30995	-0.9959	6	0.51188	T	0.08	.	7.688	0.28550	0.3015:0.6985:0.0:0.0	.	94	Q6ZNQ0	.	C	94	.	ENSP00000353966:R94C	R	+	1	0	MIRLET7BHG	44884351	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.429000	0.06982	-0.483000	0.06772	-0.521000	0.04368	CGC	FLJ27365	-	NULL	ENSG00000197182		0.657	FLJ27365-001	PUTATIVE	basic|appris_candidate	protein_coding	ENSG00000197182	Uniprot_gn	protein_coding	OTTHUMT00000316781.1	-	0.00	48	0	C			46505687	+1	tier1	-	no_errors	ENST00000360737	ensembl	human	putative	74_37	missense	25.93	20	7	SNP	0.001	T
AC003101.1	0	genome.wustl.edu	37	17	29898172	29898172	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr17:29898172G>A	ENST00000412403.1	+	1	12	c.8G>A	c.(7-9)aGc>aAc	p.S3N																								TAGATGGAAAGCAGGCGCTGC	0.552																																																	0																																										SO:0001583	missense	0																														ENST00000412403.1:c.8G>A	17.37:g.29898172G>A	ENSP00000389901:p.Ser3Asn			Missense_Mutation	SNP	NULL	p.S3N	ENST00000412403.1	37	c.8		17	.	.	.	.	.	.	.	.	.	.	G	11.02	1.515402	0.27123	.	.	ENSG00000228768	ENST00000412403	.	.	.	4.37	3.38	0.38709	.	.	.	.	.	T	0.51669	0.1688	.	.	.	.	.	.	.	.	.	.	.	.	T	0.61093	-0.7132	3	.	.	.	.	9.755	0.40498	0.0:0.0:0.794:0.206	.	.	.	.	N	3	.	.	S	+	2	0	AC003101.1	26922285	0.837000	0.29446	0.012000	0.15200	0.024000	0.10985	2.180000	0.42537	1.173000	0.42796	0.655000	0.94253	AGC	AC003101.1	-	NULL	ENSG00000228768		0.552	AC003101.1-001	PUTATIVE	basic|appris_principal	protein_coding	ENSG00000228768	Clone_based_vega_gene	protein_coding	OTTHUMT00000256194.1	-	0.00	41	0	G			29898172	+1	tier1	-	no_errors	ENST00000412403	ensembl	human	putative	74_37	missense	14.81	23	4	SNP	0.018	A
ZNF668	79759	genome.wustl.edu	37	16	31073109	31073109	+	Silent	SNP	C	C	A	rs144972780	byFrequency	TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr16:31073109C>A	ENST00000538906.1	-	3	1924	c.1140G>T	c.(1138-1140)acG>acT	p.T380T	ZNF668_ENST00000535577.1_Silent_p.T380T|ZNF668_ENST00000539836.3_Silent_p.T403T|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000417110.2_Missense_Mutation_p.F99L|ZNF668_ENST00000426488.2_Silent_p.T403T|ZNF668_ENST00000394983.2_Silent_p.T380T|ZNF668_ENST00000300849.4_Silent_p.T380T	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	380					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T380T(2)|p.T403T(2)		breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GGCTATGCTTCGTGAGGCTGG	0.672																																					Colon(181;1111 1980 5060 10512 25785)												4	Substitution - coding silent(4)	lung(4)											81.0	85.0	84.0					16																	31073109		2197	4300	6497	SO:0001819	synonymous_variant	0				CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1140G>T	16.37:g.31073109C>A			C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	NULL	p.F99L	ENST00000538906.1	37	c.297	CCDS10701.1	16	.	.	.	.	.	.	.	.	.	.	C	6.950	0.545097	0.13312	.	.	ENSG00000232748	ENST00000417110	.	.	.	5.09	-8.92	0.00774	.	.	.	.	.	T	0.48205	0.1487	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59947	-0.7358	5	0.87932	D	0	-24.9467	1.3138	0.02103	0.37:0.2781:0.1834:0.1684	.	.	.	.	L	99	.	ENSP00000391989:F99L	F	+	3	2	AC135050.1	30980610	0.000000	0.05858	0.399000	0.26333	0.036000	0.12997	-1.940000	0.01543	-1.726000	0.01370	-0.259000	0.10710	TTC	ZNF668	-	NULL	ENSG00000232748		0.672	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000232748	Uniprot_gn	protein_coding	OTTHUMT00000108516.2	-	0.00	63	0	C	NM_024706		31073109	+1	tier1	-	no_errors	ENST00000417110	ensembl	human	known	74_37	missense	30.23	30	13	SNP	0.897	A
TPM1	7168	genome.wustl.edu	37	15	63340982	63340983	+	Intron	INS	-	-	C	rs550511038		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr15:63340982_63340983insC	ENST00000403994.3	+	2	320				TPM1_ENST00000404484.4_Intron|RP11-244F12.3_ENST00000561241.1_RNA|TPM1_ENST00000288398.6_Intron|TPM1_ENST00000358278.3_Intron|TPM1_ENST00000317516.7_Intron|TPM1_ENST00000334895.5_Intron|TPM1_ENST00000559281.1_Intron|TPM1_ENST00000559397.1_Intron|RP11-244F12.3_ENST00000560903.1_RNA|TPM1_ENST00000267996.7_Intron|TPM1_ENST00000560959.1_Intron|TPM1_ENST00000559556.1_Intron|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000357980.4_Intron	NM_001018005.1	NP_001018005.1	P09493	TPM1_HUMAN	tropomyosin 1 (alpha)						cardiac muscle contraction (GO:0060048)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|negative regulation of cell migration (GO:0030336)|positive regulation of ATPase activity (GO:0032781)|positive regulation of cell adhesion (GO:0045785)|positive regulation of heart rate by epinephrine (GO:0003065)|positive regulation of stress fiber assembly (GO:0051496)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|ruffle organization (GO:0031529)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|wound healing (GO:0042060)	bleb (GO:0032059)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|muscle thin filament tropomyosin (GO:0005862)|ruffle membrane (GO:0032587)|sarcomere (GO:0030017)|stress fiber (GO:0001725)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(1)|large_intestine(1)|lung(2)	4						CCCTCCTGCTTCCCCCCCCGCA	0.752																																																	0																																										SO:0001627	intron_variant	0			AB209041	CCDS10181.1, CCDS32262.1, CCDS32263.1, CCDS32264.1, CCDS45273.1, CCDS58368.1, CCDS58369.1	15q22.1	2014-09-17			ENSG00000140416	ENSG00000140416		"""Tropomyosins"""	12010	protein-coding gene	gene with protein product		191010	"""chromosome 15 open reading frame 13"", ""cardiomyopathy, hypertrophic 3"""	C15orf13, CMH3		10343096, 8205619	Standard	XM_005254637		Approved		uc002all.3	P09493	OTTHUMG00000132803	ENST00000403994.3:c.240+4631->C	15.37:g.63340990_63340990dupC			B7Z5T7|D9YZV2|D9YZV3|D9YZV8|P09494|P10469|Q6DV89|Q6DV90|Q7Z6L8|Q86W64|Q96IK2|Q9UCI1|Q9UCI2|Q9UCY9|Q9Y427	RNA	INS	-	NULL	ENST00000403994.3	37	NULL	CCDS45273.1	15																																																																																			RP11-244F12.3	-	-	ENSG00000259498		0.752	TPM1-002	KNOWN	basic|CCDS	protein_coding	ENSG00000259498	Clone_based_vega_gene	protein_coding	OTTHUMT00000417083.2		0.00	36	0	-	NM_001018004		63340983	-1	tier1		no_errors	ENST00000561241	ensembl	human	known	74_37	rna	16.67	20	4	INS	0.000:0.000	C
RP11-480A16.1	0	genome.wustl.edu	37	3	195679539	195679540	+	lincRNA	INS	-	-	AGTAAAATG			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr3:195679539_195679540insAGTAAAATG	ENST00000570130.1	-	0	26_27																											GTGTTCAATGAAGTAAAATGTA	0.465																																																	0																																												0																															3.37:g.195679540_195679548dupAGTAAAATG				RNA	INS	-	NULL	ENST00000570130.1	37	NULL		3																																																																																			RP11-480A16.1	-	-	ENSG00000260261		0.465	RP11-480A16.1-001	KNOWN	basic	lincRNA	ENSG00000260261	Clone_based_vega_gene	lincRNA	OTTHUMT00000431190.1		0.00	13	0	0			195679540	-1			no_errors	ENST00000570130	ensembl	human	known	74_37	rna	28.57	5	2	INS	0.000:0.000	AGTAAAATG
MPRIP	23164	genome.wustl.edu	37	17	17071988	17071988	+	Intron	SNP	G	G	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr17:17071988G>A	ENST00000341712.4	+	16	2163				MPRIP_ENST00000395804.3_Intron|RNU6-767P_ENST00000384132.1_RNA|MPRIP_ENST00000444976.1_Intron|MPRIP_ENST00000395811.5_Intron|RP11-45M22.3_ENST00000584203.1_RNA			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein							actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CCCACCATGTGTGGCTGTCAA	0.552																																																	0																																										SO:0001627	intron_variant	0			BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.2164-3044G>A	17.37:g.17071988G>A			Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	RNA	SNP	-	NULL	ENST00000341712.4	37	NULL	CCDS32578.1	17																																																																																			RP11-45M22.3	-	-	ENSG00000263624		0.552	MPRIP-002	KNOWN	basic|CCDS	protein_coding	ENSG00000263624	Clone_based_vega_gene	protein_coding	OTTHUMT00000131587.1	-	0.00	44	0	G	NM_015134		17071988	-1	tier1	-	no_errors	ENST00000584203	ensembl	human	known	74_37	rna	18.18	18	4	SNP	0.000	A
FAM107A	11170	genome.wustl.edu	37	3	58555547	58555547	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr3:58555547C>T	ENST00000394481.1	-	3	599	c.41G>A	c.(40-42)gGc>gAc	p.G14D	FAM107A_ENST00000464064.1_Missense_Mutation_p.G14D|RP11-475O23.2_ENST00000472513.1_RNA|FAM107A_ENST00000360997.2_Missense_Mutation_p.G14D|FAM107A_ENST00000474531.1_Missense_Mutation_p.G45D|FAM107A_ENST00000447756.2_Missense_Mutation_p.G42D	NM_001282713.1|NM_007177.2	NP_001269642.1|NP_009108.1	O95990	F107A_HUMAN	family with sequence similarity 107, member A	14					regulation of cell growth (GO:0001558)	neuron projection (GO:0043005)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		GGCCATCAGGCCCCCAATGTC	0.597																																																	0													69.0	73.0	71.0					3																	58555547		2203	4300	6503	SO:0001583	missense	0			AF089854	CCDS2892.1, CCDS63672.1, CCDS63673.1	3p14.2	2006-02-03			ENSG00000168309	ENSG00000168309			30827	protein-coding gene	gene with protein product		608295				10564580, 10702698	Standard	XM_005264835		Approved	DRR1, TU3A	uc003dkn.3	O95990	OTTHUMG00000159159	ENST00000394481.1:c.41G>A	3.37:g.58555547C>T	ENSP00000377991:p.Gly14Asp		B3KNQ4|B7ZAY5|J3KR61|Q96NH4	Missense_Mutation	SNP	pfam_DUF1151	p.G14D	ENST00000394481.1	37	c.41	CCDS2892.1	3	.	.	.	.	.	.	.	.	.	.	C	13.79	2.343653	0.41498	.	.	ENSG00000168309	ENST00000360997;ENST00000394481;ENST00000464064;ENST00000474531;ENST00000447756;ENST00000465970	T;T;T;T;T;T	0.44083	1.56;1.56;0.93;1.5;1.5;0.98	4.49	2.64	0.31445	.	0.317042	0.31949	N	0.006805	T	0.23806	0.0576	N	0.08118	0	0.30529	N	0.767643	B;P;B;B	0.40211	0.0;0.707;0.0;0.267	B;B;B;B	0.42653	0.0;0.394;0.0;0.039	T	0.11792	-1.0573	10	0.36615	T	0.2	-9.3315	8.6571	0.34071	0.0:0.7455:0.0:0.2545	.	42;14;45;14	B7ZAY5;O95990-2;B3KNQ4;O95990	.;.;.;F107A_HUMAN	D	14;14;14;45;42;14	ENSP00000354270:G14D;ENSP00000377991:G14D;ENSP00000419529:G14D;ENSP00000419124:G45D;ENSP00000400858:G42D;ENSP00000418038:G14D	ENSP00000354270:G14D	G	-	2	0	FAM107A	58530587	1.000000	0.71417	0.920000	0.36463	0.925000	0.55904	2.087000	0.41653	1.012000	0.39366	0.655000	0.94253	GGC	FAM107A	-	NULL	ENSG00000168309		0.597	FAM107A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM107A	HGNC	protein_coding	OTTHUMT00000353585.1	-	0.00	30	0	C	NM_007177		58555547	-1	tier1	-	no_errors	ENST00000360997	ensembl	human	known	74_37	missense	18.75	13	3	SNP	0.869	T
FAM124A	220108	genome.wustl.edu	37	13	51825970	51825970	+	Missense_Mutation	SNP	G	G	C			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr13:51825970G>C	ENST00000322475.8	+	3	602	c.467G>C	c.(466-468)gGg>gCg	p.G156A	FAM124A_ENST00000280057.6_Missense_Mutation_p.G192A	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	156										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CTGGCCCCTGGGACGCCGCTT	0.657																																																	0													16.0	16.0	16.0					13																	51825970		2202	4300	6502	SO:0001583	missense	0			AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.467G>C	13.37:g.51825970G>C	ENSP00000324625:p.Gly156Ala		A2A324|Q8N8P9|Q8NE66|Q96NJ9	Missense_Mutation	SNP	NULL	p.G192A	ENST00000322475.8	37	c.575	CCDS55900.1	13	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736406	0.69189	.	.	ENSG00000150510	ENST00000322475;ENST00000280057	T;T	0.42513	0.97;0.97	5.79	5.79	0.91817	.	0.051691	0.85682	D	0.000000	T	0.60894	0.2304	M	0.66939	2.045	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.971	D;D;P	0.78314	0.965;0.991;0.721	T	0.60566	-0.7238	10	0.51188	T	0.08	-2.2876	12.2665	0.54681	0.0852:0.0:0.9148:0.0	.	156;192;156	Q86V42;Q86V42-2;Q86V42-3	F124A_HUMAN;.;.	A	156;192	ENSP00000324625:G156A;ENSP00000280057:G192A	ENSP00000280057:G192A	G	+	2	0	FAM124A	50723971	1.000000	0.71417	0.998000	0.56505	0.672000	0.39443	7.605000	0.82844	2.735000	0.93741	0.655000	0.94253	GGG	FAM124A	-	NULL	ENSG00000150510		0.657	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM124A	HGNC	protein_coding	OTTHUMT00000045019.3	-	0.00	55	0	G	NM_145019		51825970	+1	tier1	-	no_errors	ENST00000280057	ensembl	human	known	74_37	missense	45.45	6	5	SNP	1.000	C
FAR2	55711	genome.wustl.edu	37	12	29423409	29423409	+	Silent	SNP	C	C	G			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:29423409C>G	ENST00000536681.3	+	2	273	c.27C>G	c.(25-27)ggC>ggG	p.G9G	FAR2_ENST00000182377.4_Silent_p.G9G|FAR2_ENST00000547116.1_Intron	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	9					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)	p.G9G(1)		central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CTTTCTATGGCGGCAAGTCCA	0.458																																																	1	Substitution - coding silent(1)	lung(1)											68.0	69.0	68.0					12																	29423409		2203	4300	6503	SO:0001819	synonymous_variant	0			AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	25531	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 2"""		"""male sterility domain containing 1"""	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.27C>G	12.37:g.29423409C>G			F8VV73|Q9H0D5|Q9NVW8	Silent	SNP	pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like	p.G9	ENST00000536681.3	37	c.27	CCDS8717.1	12																																																																																			FAR2	-	NULL	ENSG00000064763		0.458	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAR2	HGNC	protein_coding	OTTHUMT00000403479.2	-	0.00	38	0	C	NM_018099		29423409	+1	tier1	-	no_errors	ENST00000182377	ensembl	human	known	74_37	silent	20.00	24	6	SNP	0.009	G
FAT4	79633	genome.wustl.edu	37	4	126241918	126241918	+	Missense_Mutation	SNP	T	T	C			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr4:126241918T>C	ENST00000394329.3	+	1	4365	c.4352T>C	c.(4351-4353)aTt>aCt	p.I1451T		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1451	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GATGCAGACATTAATGGTCAA	0.398																																																	0													141.0	129.0	133.0					4																	126241918		1912	4138	6050	SO:0001583	missense	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4352T>C	4.37:g.126241918T>C	ENSP00000377862:p.Ile1451Thr		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.I1451T	ENST00000394329.3	37	c.4352	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	T	13.67	2.307012	0.40795	.	.	ENSG00000196159	ENST00000394329	T	0.01902	4.57	4.87	4.87	0.63330	Cadherin (4);Cadherin-like (1);	0.000000	0.34725	U	0.003733	T	0.04003	0.0112	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.68633	-0.5357	10	0.13853	T	0.58	.	14.6255	0.68618	0.0:0.0:0.0:1.0	.	1451	Q6V0I7	FAT4_HUMAN	T	1451	ENSP00000377862:I1451T	ENSP00000377862:I1451T	I	+	2	0	FAT4	126461368	1.000000	0.71417	0.913000	0.36048	0.375000	0.29983	7.708000	0.84633	2.050000	0.60909	0.533000	0.62120	ATT	FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000196159		0.398	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	-	0.00	38	0	T	NM_024582		126241918	+1	tier1	-	no_errors	ENST00000394329	ensembl	human	known	74_37	missense	66.67	4	8	SNP	1.000	C
FBN1	2200	genome.wustl.edu	37	15	48704821	48704821	+	Missense_Mutation	SNP	G	G	A	rs398122832		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr15:48704821G>A	ENST00000316623.5	-	65	8626	c.8171C>T	c.(8170-8172)cCc>cTc	p.P2724L	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2724					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCCCCGTTTGGGGTAGCCATT	0.517																																																	0													225.0	185.0	199.0					15																	48704821		2198	4296	6494	SO:0001583	missense	0			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.8171C>T	15.37:g.48704821G>A	ENSP00000325527:p.Pro2724Leu		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.P2724L	ENST00000316623.5	37	c.8171	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450231	0.63290	.	.	ENSG00000166147	ENST00000316623	T	0.81163	-1.46	5.38	4.47	0.54385	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.77301	0.4110	M	0.71036	2.16	0.80722	D	1	B	0.14012	0.009	B	0.12156	0.007	T	0.71724	-0.4506	10	0.12103	T	0.63	.	13.9772	0.64279	0.073:0.0:0.927:0.0	.	2724	P35555	FBN1_HUMAN	L	2724	ENSP00000325527:P2724L	ENSP00000325527:P2724L	P	-	2	0	FBN1	46492113	1.000000	0.71417	0.993000	0.49108	0.961000	0.63080	7.539000	0.82063	1.503000	0.48686	0.655000	0.94253	CCC	FBN1	-	superfamily_Growth_fac_rcpt_N_dom,pirsf_FBN	ENSG00000166147		0.517	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	-	0.00	65	0	G			48704821	-1	tier1	-	no_errors	ENST00000316623	ensembl	human	known	74_37	missense	17.65	28	6	SNP	1.000	A
FCRL4	83417	genome.wustl.edu	37	1	157545234	157545234	+	3'UTR	SNP	C	C	T	rs541546477	byFrequency	TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:157545234C>T	ENST00000271532.1	-	0	1763				FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4						immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TTCCAGGGGCCGCAAGGACTG	0.448													C|||	21	0.00419329	0.0	0.0	5008	,	,		22200	0.0		0.0	False		,,,				2504	0.0215																0																																										SO:0001624	3_prime_UTR_variant	0			AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.*80G>A	1.37:g.157545234C>T			Q96PJ3|Q96RE0	RNA	SNP	-	NULL	ENST00000271532.1	37	NULL	CCDS1166.1	1																																																																																			FCRL4	-	-	ENSG00000163518		0.448	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRL4	HGNC	protein_coding	OTTHUMT00000086180.1	-	0.00	22	0	C	NM_031282		157545234	-1	tier1	-	no_errors	ENST00000448509	ensembl	human	known	74_37	rna	35.00	13	7	SNP	0.001	T
FGF7	2252	genome.wustl.edu	37	15	49716708	49716708	+	Missense_Mutation	SNP	C	C	G			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr15:49716708C>G	ENST00000267843.4	+	2	825	c.214C>G	c.(214-216)Cga>Gga	p.R72G	FGF7_ENST00000560270.1_Missense_Mutation_p.R72G|FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	72					actin cytoskeleton reorganization (GO:0031532)|branching involved in salivary gland morphogenesis (GO:0060445)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle morphogenesis (GO:0031069)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization to cell surface (GO:0034394)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|response to wounding (GO:0009611)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)		ACTCTTCTGTCGAACACAGTG	0.408																																																	0													91.0	90.0	91.0					15																	49716708		2196	4295	6491	SO:0001583	missense	0			M60828	CCDS10131.1	15q21.2	2014-01-30	2010-08-18		ENSG00000140285	ENSG00000140285		"""Endogenous ligands"""	3685	protein-coding gene	gene with protein product	"""keratinocyte growth factor"""	148180	"""fibroblast growth factor 7 (keratinocyte growth factor)"""			7749227, 1409637	Standard	NM_002009		Approved	KGF	uc001zxn.3	P21781	OTTHUMG00000131517	ENST00000267843.4:c.214C>G	15.37:g.49716708C>G	ENSP00000267843:p.Arg72Gly		H0YNY5|Q6FGV5|Q96FG5	Missense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.R72G	ENST00000267843.4	37	c.214	CCDS10131.1	15	.	.	.	.	.	.	.	.	.	.	C	11.20	1.567625	0.28003	.	.	ENSG00000140285	ENST00000267843	D	0.83250	-1.7	5.7	3.68	0.42216	.	0.127454	0.56097	D	0.000039	T	0.74688	0.3749	.	.	.	0.45439	D	0.998412	B	0.19331	0.035	B	0.14023	0.01	T	0.70817	-0.4769	9	0.40728	T	0.16	.	10.8202	0.46599	0.2609:0.6128:0.1262:0.0	.	72	P21781	FGF7_HUMAN	G	72	ENSP00000267843:R72G	ENSP00000267843:R72G	R	+	1	2	FGF7	47504000	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.570000	0.36439	1.386000	0.46466	0.655000	0.94253	CGA	FGF7	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam	ENSG00000140285		0.408	FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF7	HGNC	protein_coding	OTTHUMT00000254374.3		0.00	52	0	C	NM_002009		49716708	+1			no_errors	ENST00000267843	ensembl	human	known	74_37	missense	10.00	18	2	SNP	1.000	G
FLG	2312	genome.wustl.edu	37	1	152284119	152284119	+	Silent	SNP	T	T	C			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:152284119T>C	ENST00000368799.1	-	3	3278	c.3243A>G	c.(3241-3243)tcA>tcG	p.S1081S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1081	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGTGTGTCTGACTCCTCTG	0.582									Ichthyosis																																								0													376.0	377.0	377.0					1																	152284119		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3243A>G	1.37:g.152284119T>C			Q01720|Q5T583|Q9UC71	Silent	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.S1081	ENST00000368799.1	37	c.3243	CCDS30860.1	1																																																																																			FLG	-	prints_Filaggrin	ENSG00000143631		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0.00	139	0	T	NM_002016		152284119	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.000	C
FLNC	2318	genome.wustl.edu	37	7	128487788	128487788	+	Missense_Mutation	SNP	C	C	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr7:128487788C>A	ENST00000325888.8	+	25	4587	c.4326C>A	c.(4324-4326)gaC>gaA	p.D1442E	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.D1442E	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1442					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ATGTGGTGGACCCTGGGAAGG	0.647																																																	0													60.0	67.0	65.0					7																	128487788		1990	4166	6156	SO:0001583	missense	0			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.4326C>A	7.37:g.128487788C>A	ENSP00000327145:p.Asp1442Glu		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.D1442E	ENST00000325888.8	37	c.4326	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495286	0.64186	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.75367	-0.93;-0.93	5.12	-0.866	0.10659	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83381	0.5242	M	0.86420	2.815	0.38442	D	0.946723	D;D	0.89917	0.998;1.0	D;D	0.85130	0.997;0.996	T	0.80324	-0.1430	10	0.41790	T	0.15	.	7.2012	0.25881	0.1125:0.5315:0.0:0.356	.	1442;1442	Q14315-2;Q14315	.;FLNC_HUMAN	E	1442	ENSP00000327145:D1442E;ENSP00000344002:D1442E	ENSP00000327145:D1442E	D	+	3	2	FLNC	128275024	0.395000	0.25254	0.994000	0.49952	0.699000	0.40488	-0.195000	0.09546	-0.125000	0.11703	0.561000	0.74099	GAC	FLNC	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000128591		0.647	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	-	0.00	99	0	C			128487788	+1	tier1	-	no_errors	ENST00000325888	ensembl	human	known	74_37	missense	20.59	27	7	SNP	0.985	A
FREM1	158326	genome.wustl.edu	37	9	14748440	14748440	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr9:14748440G>T	ENST00000380880.3	-	31	6538	c.5755C>A	c.(5755-5757)Ctt>Att	p.L1919I	FREM1_ENST00000380894.1_Missense_Mutation_p.L455I|FREM1_ENST00000422223.2_Missense_Mutation_p.L1919I|FREM1_ENST00000380881.4_Missense_Mutation_p.L1920I			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1919					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTTTGAGAAAGATCTGTAGAA	0.463																																																	0													46.0	48.0	48.0					9																	14748440		1833	4074	5907	SO:0001583	missense	0			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.5755C>A	9.37:g.14748440G>T	ENSP00000370262:p.Leu1919Ile		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.L1920I	ENST00000380880.3	37	c.5758	CCDS47952.1	9	.	.	.	.	.	.	.	.	.	.	G	3.253	-0.152777	0.06585	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880	T;T;T;T	0.13538	2.85;2.85;2.58;2.85	5.8	1.47	0.22746	.	0.972503	0.08472	N	0.940844	T	0.08626	0.0214	N	0.19112	0.55	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.09377	0.0;0.004	T	0.41680	-0.9495	10	0.22706	T	0.39	-2.4419	7.379	0.26845	0.065:0.0955:0.5856:0.2539	.	1919;455	Q5H8C1;B7ZBX4	FREM1_HUMAN;.	I	1920;1919;455;1919	ENSP00000370263:L1920I;ENSP00000412940:L1919I;ENSP00000370278:L455I;ENSP00000370262:L1919I	ENSP00000370262:L1919I	L	-	1	0	FREM1	14738440	0.005000	0.15991	0.001000	0.08648	0.342000	0.28953	0.619000	0.24388	0.363000	0.24346	-1.283000	0.01379	CTT	FREM1	-	NULL	ENSG00000164946		0.463	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	HGNC	protein_coding	OTTHUMT00000339474.2	-	0.00	55	0	G	NM_144966		14748440	-1	tier1	-	no_errors	ENST00000380881	ensembl	human	known	74_37	missense	23.53	13	4	SNP	0.000	T
FRMD5	84978	genome.wustl.edu	37	15	44166455	44166455	+	Frame_Shift_Del	DEL	C	C	-			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr15:44166455delC	ENST00000417257.1	-	14	1517	c.1341delG	c.(1339-1341)cggfs	p.R447fs	FRMD5_ENST00000402883.1_Frame_Shift_Del_p.R447fs|FRMD5_ENST00000484674.1_Frame_Shift_Del_p.R353fs	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	447						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		CATTGATCTGCCGGGAAAGCA	0.607																																																	0													61.0	57.0	58.0					15																	44166455		2198	4298	6496	SO:0001589	frameshift_variant	0			BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.1341delG	15.37:g.44166455delC	ENSP00000403067:p.Arg447fs		Q8NBG4	Frame_Shift_Del	DEL	pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.Q448fs	ENST00000417257.1	37	c.1341	CCDS10107.2	15																																																																																			FRMD5	-	NULL	ENSG00000171877		0.607	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD5	HGNC	protein_coding	OTTHUMT00000133879.1		0.00	43	0	C	NM_032892		44166455	-1	tier1		no_errors	ENST00000417257	ensembl	human	known	74_37	frame_shift_del	13.33	13	2	DEL	1.000	-
FUT3	2525	genome.wustl.edu	37	19	5844729	5844729	+	Missense_Mutation	SNP	G	G	T	rs147904934		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:5844729G>T	ENST00000303225.6	-	3	756	c.122C>A	c.(121-123)gCc>gAc	p.A41D	AC024592.9_ENST00000589276.1_RNA|FUT3_ENST00000589918.1_Missense_Mutation_p.A41D|FUT3_ENST00000589620.1_Missense_Mutation_p.A41D|FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000458379.2_Missense_Mutation_p.A41D	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	41					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GGATCCAGTGGCATCGTCTCG	0.622																																					Esophageal Squamous(82;745 1728 24593 44831)												0													24.0	25.0	25.0					19																	5844729		2203	4300	6503	SO:0001583	missense	0				CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"""CD molecules"", ""Blood group antigens"", ""Fucosyltransferases"""	4014	protein-coding gene	gene with protein product		111100	"""fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"""	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.122C>A	19.37:g.5844729G>T	ENSP00000305603:p.Ala41Asp		B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	pfam_Glyco_trans_10	p.A41D	ENST00000303225.6	37	c.122	CCDS12153.1	19	.	.	.	.	.	.	.	.	.	.	G	8.726	0.915561	0.17907	.	.	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.23552	1.9;1.9	1.67	0.514	0.17007	.	1.607640	0.03586	N	0.230941	T	0.29588	0.0738	L	0.50333	1.59	0.09310	N	1	P;P;P;P	0.37781	0.549;0.608;0.608;0.608	P;B;B;B	0.46049	0.502;0.397;0.397;0.397	T	0.20042	-1.0287	10	0.21540	T	0.41	.	3.8153	0.08814	0.0:0.2748:0.4466:0.2786	.	41;41;41;41	B3W6H0;A8K737;B3GVC1;P21217	.;.;.;FUT3_HUMAN	D	41	ENSP00000305603:A41D;ENSP00000416443:A41D	ENSP00000305603:A41D	A	-	2	0	FUT3	5795729	0.050000	0.20438	0.001000	0.08648	0.257000	0.26127	2.713000	0.47194	0.219000	0.20840	0.205000	0.17691	GCC	FUT3	-	pfam_Glyco_trans_10	ENSG00000171124		0.622	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FUT3	HGNC	protein_coding	OTTHUMT00000452204.1		0.00	104	0	G	NM_000149		5844729	-1			no_errors	ENST00000303225	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.001	T
GALNT13	114805	genome.wustl.edu	37	2	155295110	155295110	+	Missense_Mutation	SNP	T	T	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr2:155295110T>A	ENST00000392825.3	+	12	1969	c.1402T>A	c.(1402-1404)Tct>Act	p.S468T	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Missense_Mutation_p.S468T|AC009227.2_ENST00000434635.1_RNA	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	468	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TCAGGTATTTTCTTACACTGC	0.348																																																	0													84.0	85.0	85.0					2																	155295110		2203	4299	6502	SO:0001583	missense	0			AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.1402T>A	2.37:g.155295110T>A	ENSP00000376570:p.Ser468Thr		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.S468T	ENST00000392825.3	37	c.1402	CCDS2199.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.35|18.35	3.605435|3.605435	0.66445|0.66445	.|.	.|.	ENSG00000144278|ENSG00000144278	ENST00000450838|ENST00000392825;ENST00000409237;ENST00000453715	T|T;T;T	0.35236|0.26223	1.32|1.75;1.75;1.75	5.55|5.55	5.55|5.55	0.83447|0.83447	.|Ricin B-related lectin (1);Ricin B lectin (3);	.|0.170990	.|0.53938	.|D	.|0.000056	T|T	0.14743|0.14743	0.0356|0.0356	N|N	0.12746|0.12746	0.255|0.255	0.80722|0.80722	D|D	1|1	.|B;B	.|0.24258	.|0.1;0.039	.|B;B	.|0.25405	.|0.06;0.034	T|T	0.12344|0.12344	-1.0551|-1.0551	7|10	0.54805|0.12103	T|T	0.06|0.63	.|.	13.6419|13.6419	0.62255|0.62255	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|468;468	.|Q08ER7;Q8IUC8	.|.;GLT13_HUMAN	Y|T	53|468;468;3	ENSP00000406237:F53Y|ENSP00000376570:S468T;ENSP00000387239:S468T;ENSP00000396612:S3T	ENSP00000406237:F53Y|ENSP00000376570:S468T	F|S	+|+	2|1	0|0	GALNT13|GALNT13	155003356|155003356	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.890000|7.890000	0.87313|0.87313	2.110000|2.110000	0.64415|0.64415	0.533000|0.533000	0.62120|0.62120	TTC|TCT	GALNT13	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000144278		0.348	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT13	HGNC	protein_coding	OTTHUMT00000254870.2		0.00	61	0	T	NM_052917		155295110	+1			no_errors	ENST00000409237	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	A
GDF9	2661	genome.wustl.edu	37	5	132200009	132200009	+	Silent	SNP	G	G	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr5:132200009G>T	ENST00000378673.2	-	2	1083	c.217C>A	c.(217-219)Cga>Aga	p.R73R	GDF9_ENST00000296875.2_Silent_p.R73R|UQCRQ_ENST00000378665.1_5'Flank|GDF9_ENST00000464378.1_Intron|UQCRQ_ENST00000378670.3_5'Flank|UQCRQ_ENST00000378667.1_5'Flank			O60383	GDF9_HUMAN	growth differentiation factor 9	73					female gamete generation (GO:0007292)|negative regulation of cell growth (GO:0030308)|oocyte growth (GO:0001555)|positive regulation of cell proliferation (GO:0008284)|regulation of progesterone secretion (GO:2000870)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)	p.R73*(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACCCACCTCGCCCAACAGAT	0.502																																																	1	Substitution - Nonsense(1)	large_intestine(1)											105.0	112.0	110.0					5																	132200009		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404		"""Endogenous ligands"""	4224	protein-coding gene	gene with protein product		601918				7760846	Standard	NM_005260		Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.217C>A	5.37:g.132200009G>T			Q4VAW5	Silent	SNP	pfam_TGF-b_C,smart_TGF-b_C	p.R73	ENST00000378673.2	37	c.217	CCDS4162.1	5																																																																																			GDF9	-	NULL	ENSG00000164404		0.502	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF9	HGNC	protein_coding	OTTHUMT00000133060.2		0.00	63	0	G	NM_005260		132200009	-1			no_errors	ENST00000296875	ensembl	human	known	74_37	silent	5.71	33	2	SNP	0.030	T
GLUD1	2746	genome.wustl.edu	37	10	88854347	88854347	+	Silent	SNP	G	G	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr10:88854347G>A	ENST00000277865.4	-	1	276	c.180C>T	c.(178-180)cgC>cgT	p.R60R	FAM35A_ENST00000298784.1_5'Flank|GLUD1_ENST00000544149.1_5'Flank|GLUD1_ENST00000537649.1_5'Flank|FAM35A_ENST00000298786.4_5'Flank	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	60					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	GGTCGTCCTCGCGGTCGGCCA	0.721																																																	0													47.0	54.0	52.0					10																	88854347		2202	4300	6502	SO:0001819	synonymous_variant	0			M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.180C>T	10.37:g.88854347G>A			B3KV55|B4DGN5|Q5TBU3	Silent	SNP	pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH	p.R60	ENST00000277865.4	37	c.180	CCDS7382.1	10	.	.	.	.	.	.	.	.	.	.	G	4.252	0.045797	0.08196	.	.	ENSG00000148672	ENST00000394415	.	.	.	3.84	-4.21	0.03812	.	0.389048	0.25692	N	0.028928	.	.	.	.	.	.	0.49299	D	0.999773	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	0.5157	0.00603	0.2795:0.3088:0.1874:0.2243	.	.	.	.	X	34	.	ENSP00000377937:R34X	R	-	1	2	GLUD1	88844327	0.977000	0.34250	0.765000	0.31456	0.062000	0.15995	1.575000	0.36493	-0.676000	0.05238	-1.478000	0.00992	CGA	GLUD1	-	NULL	ENSG00000148672		0.721	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUD1	HGNC	protein_coding	OTTHUMT00000049188.1	-	0.00	37	0	G	NM_005271		88854347	-1	tier1	-	no_errors	ENST00000277865	ensembl	human	known	74_37	silent	41.67	14	10	SNP	0.577	A
GNS	2799	genome.wustl.edu	37	12	65134404	65134404	+	Missense_Mutation	SNP	T	T	C			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:65134404T>C	ENST00000258145.3	-	7	1027	c.857A>G	c.(856-858)gAt>gGt	p.D286G	GNS_ENST00000543646.1_Missense_Mutation_p.D318G|GNS_ENST00000542058.1_Missense_Mutation_p.D266G|GNS_ENST00000418919.2_Missense_Mutation_p.D230G	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	286					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		AAATGCATTATCTAAAAACTG	0.358																																																	0													127.0	125.0	126.0					12																	65134404		2203	4299	6502	SO:0001583	missense	0				CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"""Sanfilippo disease IIID"", ""N-acetylglucosamine-6-sulfatase"""	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.857A>G	12.37:g.65134404T>C	ENSP00000258145:p.Asp286Gly		B4DYH8|Q53F05	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase	p.D286G	ENST00000258145.3	37	c.857	CCDS8970.1	12	.	.	.	.	.	.	.	.	.	.	T	19.96	3.923401	0.73213	.	.	ENSG00000135677	ENST00000418919;ENST00000258145;ENST00000543646;ENST00000542058;ENST00000539825;ENST00000545471;ENST00000545273	D;D;D;D;D	0.99901	-4.92;-5.29;-4.97;-5.02;-7.65	5.47	5.47	0.80525	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99876	0.9941	M	0.82630	2.6	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.97110	1.0;1.0;0.967;1.0	D	0.96415	0.9307	9	.	.	.	-25.0313	15.8806	0.79201	0.0:0.0:0.0:1.0	.	266;318;286;230	B4DYH8;F6S8M0;P15586;Q7Z3X3	.;.;GNS_HUMAN;.	G	230;286;318;266;203;223;210	ENSP00000413130:D230G;ENSP00000258145:D286G;ENSP00000438497:D318G;ENSP00000444819:D266G;ENSP00000445055:D210G	.	D	-	2	0	GNS	63420671	1.000000	0.71417	0.995000	0.50966	0.621000	0.37620	7.896000	0.87350	2.209000	0.71365	0.533000	0.62120	GAT	GNS	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase	ENSG00000135677		0.358	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GNS	HGNC	protein_coding	OTTHUMT00000401195.2	-	0.00	75	0	T			65134404	-1	tier1	-	no_errors	ENST00000258145	ensembl	human	known	74_37	missense	30.23	30	13	SNP	1.000	C
GOLGA6L17P	642402	genome.wustl.edu	37	15	85052986	85052987	+	RNA	DEL	AC	AC	-			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr15:85052986_85052987delAC	ENST00000414190.2	-	0	465_466					NR_003246.2																						taaattagaaacacaaataaat	0.153																																																	0																																												0																															15.37:g.85052988_85052989delAC				RNA	DEL	-	NULL	ENST00000414190.2	37	NULL		15																																																																																			GOLGA6L5	-	-	ENSG00000230373		0.153	GOLGA6L5-003	KNOWN	mRNA_end_NF|basic	processed_transcript	GOLGA6L5	HGNC	pseudogene	OTTHUMT00000418579.1		0.00	12	0	AC			85052987	-1			no_errors	ENST00000414190	ensembl	human	known	74_37	rna	33.33	4	2	DEL	0.430:0.435	0
GPR123	84435	genome.wustl.edu	37	10	134896022	134896022	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr10:134896022C>T	ENST00000607359.1	+	6	1108	c.1108C>T	c.(1108-1110)Cct>Tct	p.P370S	RP13-439H18.4_ENST00000444433.1_RNA			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CCACTCAGAGCCTACTCCTGC	0.587																																																	0													50.0	48.0	49.0					10																	134896022		1566	3582	5148	SO:0001583	missense	0			AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000607359.1:c.1108C>T	10.37:g.134896022C>T	ENSP00000475778:p.Pro370Ser		A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	p.P370S	ENST00000607359.1	37	c.1108		10	.	.	.	.	.	.	.	.	.	.	C	1.518	-0.547550	0.04024	.	.	ENSG00000197177	ENST00000368577;ENST00000392609	.	.	.	0.57	-0.971	0.10303	.	.	.	.	.	T	0.21590	0.0520	.	.	.	0.31099	N	0.710612	P	0.35481	0.504	B	0.27380	0.079	T	0.14392	-1.0474	5	0.87932	D	0	.	.	.	.	.	370	Q86SQ6-1	.	S	370	.	ENSP00000357566:P370S	P	+	1	0	GPR123	134746012	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.436000	0.06922	-0.363000	0.08101	0.405000	0.27470	CCT	GPR123	-	NULL	ENSG00000197177		0.587	GPR123-004	PUTATIVE	basic|appris_candidate_longest	protein_coding	GPR123	HGNC	protein_coding	OTTHUMT00000316904.2	-	0.00	52	0	C			134896022	+1	tier1	-	no_errors	ENST00000607359	ensembl	human	putative	74_37	missense	22.22	14	4	SNP	0.001	T
GPR39	2863	genome.wustl.edu	37	2	133174826	133174826	+	Missense_Mutation	SNP	C	C	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr2:133174826C>A	ENST00000329321.3	+	1	680	c.211C>A	c.(211-213)Cac>Aac	p.H71N		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	71					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGTGACAGACCACATGGTGAG	0.547																																																	0													241.0	216.0	224.0					2																	133174826		2203	4300	6503	SO:0001583	missense	0			AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.211C>A	2.37:g.133174826C>A	ENSP00000327417:p.His71Asn		B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.H71N	ENST00000329321.3	37	c.211	CCDS2170.1	2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158819	0.78226	.	.	ENSG00000183840	ENST00000329321	T	0.72051	-0.62	5.34	5.34	0.76211	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.85124	0.5625	M	0.77103	2.36	0.54753	D	0.999982	D	0.89917	1.0	D	0.97110	1.0	D	0.86269	0.1660	10	0.87932	D	0	.	19.304	0.94153	0.0:1.0:0.0:0.0	.	71	O43194	GPR39_HUMAN	N	71	ENSP00000327417:H71N	ENSP00000327417:H71N	H	+	1	0	GPR39	132891296	1.000000	0.71417	0.971000	0.41717	0.988000	0.76386	7.631000	0.83237	2.803000	0.96430	0.549000	0.68633	CAC	GPR39	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000183840		0.547	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR39	HGNC	protein_coding	OTTHUMT00000254582.1	-	0.00	82	0	C			133174826	+1	tier1	-	no_errors	ENST00000329321	ensembl	human	known	74_37	missense	15.15	28	5	SNP	1.000	A
GPR98	84059	genome.wustl.edu	37	5	89990388	89990388	+	Missense_Mutation	SNP	G	G	C			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr5:89990388G>C	ENST00000405460.2	+	33	7911	c.7815G>C	c.(7813-7815)ttG>ttC	p.L2605F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2605	Calx-beta 18. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCCAAACCTTGGTGGAGCTGA	0.453																																																	0													209.0	213.0	212.0					5																	89990388		2011	4181	6192	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.7815G>C	5.37:g.89990388G>C	ENSP00000384582:p.Leu2605Phe		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.L2605F	ENST00000405460.2	37	c.7815	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.57|13.57	2.276292|2.276292	0.40294|0.40294	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.27557|.	1.66|.	5.88|5.88	-4.8|-4.8	0.03190|0.03190	Na-Ca exchanger/integrin-beta4 (1);|.	1.256040|.	0.05422|.	N|.	0.544355|.	T|T	0.30823|0.30823	0.0777|0.0777	N|N	0.20685|0.20685	0.6|0.6	0.80722|0.80722	D|D	1|1	P;P|.	0.41978|.	0.767;0.767|.	P;P|.	0.50162|.	0.633;0.633|.	T|T	0.18429|0.18429	-1.0337|-1.0337	10|5	0.12103|.	T|.	0.63|.	.|.	3.7039|3.7039	0.08392|0.08392	0.1201:0.0842:0.4196:0.376|0.1201:0.0842:0.4196:0.376	.|.	2605;2605|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	F|S	2605|171	ENSP00000384582:L2605F|.	ENSP00000296619:L2605F|.	L|W	+|+	3|2	2|0	GPR98|GPR98	90026144|90026144	0.000000|0.000000	0.05858|0.05858	0.006000|0.006000	0.13384|0.13384	0.736000|0.736000	0.42039|0.42039	-0.572000|-0.572000	0.05881|0.05881	-0.822000|-0.822000	0.04306|0.04306	0.655000|0.655000	0.94253|0.94253	TTG|TGG	GPR98	-	smart_Calx_beta	ENSG00000164199		0.453	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	-	0.00	57	0	G	NM_032119		89990388	+1	tier1	-	no_errors	ENST00000405460	ensembl	human	known	74_37	missense	15.38	22	4	SNP	0.000	C
GRM7	2917	genome.wustl.edu	37	3	7188222	7188222	+	Silent	SNP	C	C	T	rs145727552		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr3:7188222C>T	ENST00000357716.4	+	2	877	c.603C>T	c.(601-603)ccC>ccT	p.P201P	GRM7_ENST00000389336.4_Silent_p.P201P|GRM7_ENST00000486284.1_Silent_p.P201P|GRM7_ENST00000402647.2_Silent_p.P201P|GRM7_ENST00000403881.1_Silent_p.P201P	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	201					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						TGGTGCCACCCGATTCCTTCC	0.517																																																	0								C	,	1,4405	2.1+/-5.4	0,1,2202	127.0	115.0	119.0		603,603	-9.8	0.8	3	dbSNP_134	119	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GRM7	NM_000844.3,NM_181874.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	201/916,201/923	7188222	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.603C>T	3.37:g.7188222C>T			Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.P201	ENST00000357716.4	37	c.603	CCDS43042.1	3																																																																																			GRM7	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3	ENSG00000196277		0.517	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM7	HGNC	protein_coding	OTTHUMT00000246895.3		0.00	72	0	C	NM_000844		7188222	+1			no_errors	ENST00000402647	ensembl	human	known	74_37	silent	7.69	24	2	SNP	0.058	T
GSE1	23199	genome.wustl.edu	37	16	85687979	85687979	+	Silent	SNP	G	G	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr16:85687979G>A	ENST00000253458.7	+	4	698	c.522G>A	c.(520-522)tcG>tcA	p.S174S	GSE1_ENST00000405402.2_Silent_p.S70S|GSE1_ENST00000393243.1_Silent_p.S101S	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	174																	CCATCCCCTCGCACCTGCTCA	0.667																																																	0													47.0	46.0	46.0					16																	85687979		2193	4295	6488	SO:0001819	synonymous_variant	0			D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.522G>A	16.37:g.85687979G>A			D3DUM4|Q8IY61|Q96GA4|Q9BW09	Silent	SNP	pfam_GSE-like	p.S174	ENST00000253458.7	37	c.522	CCDS10952.1	16																																																																																			GSE1	-	pfam_GSE-like	ENSG00000131149		0.667	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	GSE1	HGNC	protein_coding	OTTHUMT00000325527.1	-	0.00	98	0	G	NM_014615		85687979	+1	tier1	-	no_errors	ENST00000253458	ensembl	human	known	74_37	silent	9.30	39	4	SNP	0.998	A
GUF1	60558	genome.wustl.edu	37	4	44688650	44688650	+	Silent	SNP	T	T	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr4:44688650T>A	ENST00000281543.5	+	8	1052	c.858T>A	c.(856-858)atT>atA	p.I286I	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						GAGATAAAATTGTATCTGCAC	0.378																																																	0													135.0	134.0	134.0					4																	44688650		2203	4299	6502	SO:0001819	synonymous_variant	0				CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.858T>A	4.37:g.44688650T>A				Silent	SNP	pfam_EF_GTP-bd_dom,pfam_LepA_GTP-bd_C,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,pfam_Small_GTPase,superfamily_P-loop_NTPase,superfamily_EFG_III-V,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_EF-4,tigrfam_Small_GTP-bd_dom	p.I286	ENST00000281543.5	37	c.858	CCDS3468.1	4																																																																																			GUF1	-	pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel,tigrfam_EF-4	ENSG00000151806		0.378	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUF1	HGNC	protein_coding	OTTHUMT00000250469.3	-	0.00	128	0	T	NM_021927		44688650	+1	tier1	-	no_errors	ENST00000281543	ensembl	human	known	74_37	silent	40.00	27	18	SNP	1.000	A
GYPB	2994	genome.wustl.edu	37	4	145038046	145038046	+	Intron	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr4:145038046C>T	ENST00000283126.7	-	1	93				GYPA_ENST00000512064.1_Silent_p.T93T|GYPA_ENST00000504786.1_Silent_p.T74T|GYPA_ENST00000360771.4_Silent_p.T106T|GYPA_ENST00000512789.1_Silent_p.T41T|GYPA_ENST00000503627.1_Silent_p.T61T|GYPA_ENST00000535709.1_Silent_p.T80T|GYPA_ENST00000324022.10_Silent_p.T73T|RP11-673E1.4_ENST00000506982.1_RNA			P06028	GLPB_HUMAN	glycophorin B (MNS blood group)							integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.T106T(1)		breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					TTAAGAGGATCGTTCCAATAA	0.358																																																	1	Substitution - coding silent(1)	lung(1)											129.0	132.0	131.0					4																	145038046		2203	4300	6503	SO:0001627	intron_variant	0				CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"""CD molecules"", ""Blood group antigens"""	4703	protein-coding gene	gene with protein product		111740	"""glycophorin B (includes Ss blood group)"", ""glycophorin B (Ss blood group)"""	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000283126.7:c.37+23705G>A	4.37:g.145038046C>T			B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	Silent	SNP	pfam_Glycophorin,pirsf_Glycophorin	p.T106	ENST00000283126.7	37	c.318		4																																																																																			GYPA	-	pfam_Glycophorin,pirsf_Glycophorin	ENSG00000170180		0.358	GYPB-201	KNOWN	basic|appris_principal	protein_coding	GYPA	HGNC	protein_coding			0.00	88	0	C	NM_002100		145038046	-1			no_errors	ENST00000360771	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.000	T
HCAR2	338442	genome.wustl.edu	37	12	123187116	123187116	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:123187116C>T	ENST00000328880.5	-	1	774	c.715G>A	c.(715-717)Gtc>Atc	p.V239I	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	239					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	ATGACAAAGACGATGGCCACC	0.552																																																	0													93.0	79.0	84.0					12																	123187116		2203	4297	6500	SO:0001583	missense	0			AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	24827	protein-coding gene	gene with protein product	"""niacin receptor 1"""	609163	"""G protein-coupled receptor 109A"""	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.715G>A	12.37:g.123187116C>T	ENSP00000375066:p.Val239Ile		A0PJL5|A7LGG3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.V239I	ENST00000328880.5	37	c.715	CCDS9235.1	12	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660482	0.47572	.	.	ENSG00000182782	ENST00000328880;ENST00000536970	T	0.75154	-0.91	4.97	4.08	0.47627	GPCR, rhodopsin-like superfamily (1);	0.195483	0.33217	N	0.005156	T	0.78317	0.4264	L	0.47016	1.485	0.25344	N	0.988925	D	0.67145	0.996	D	0.67900	0.954	T	0.66586	-0.5886	10	0.28530	T	0.3	-43.2297	11.1236	0.48304	0.0:0.9083:0.0:0.0917	.	239	Q8TDS4	HCAR2_HUMAN	I	239	ENSP00000375066:V239I	ENSP00000375066:V239I	V	-	1	0	HCAR2	121753069	0.547000	0.26465	0.907000	0.35723	0.466000	0.32739	1.124000	0.31320	2.746000	0.94184	0.563000	0.77884	GTC	HCAR2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000182782		0.552	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCAR2	HGNC	protein_coding	OTTHUMT00000370202.1	-	0.00	39	0	C	NM_177551		123187116	-1	tier1	-	no_errors	ENST00000328880	ensembl	human	known	74_37	missense	20.51	30	8	SNP	0.788	T
HCRTR2	3062	genome.wustl.edu	37	6	55142277	55142277	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr6:55142277G>A	ENST00000370862.3	+	5	1198	c.862G>A	c.(862-864)Gct>Act	p.A288T		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	288					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)			CCGGATGAGCGCTGTGGCGGC	0.502																																																	0													69.0	73.0	72.0					6																	55142277		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.862G>A	6.37:g.55142277G>A	ENSP00000359899:p.Ala288Thr		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.A288T	ENST00000370862.3	37	c.862	CCDS4956.1	6	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911082	0.52439	.	.	ENSG00000137252	ENST00000370862	T	0.61980	0.06	6.06	6.06	0.98353	GPCR, rhodopsin-like superfamily (1);	0.049683	0.85682	D	0.000000	T	0.34279	0.0892	N	0.13168	0.305	0.53688	D	0.999975	B	0.20550	0.046	B	0.18561	0.022	T	0.17623	-1.0363	10	0.22706	T	0.39	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	288	O43614	OX2R_HUMAN	T	288	ENSP00000359899:A288T	ENSP00000359899:A288T	A	+	1	0	HCRTR2	55250236	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	4.974000	0.63771	2.880000	0.98712	0.650000	0.86243	GCT	HCRTR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt	ENSG00000137252		0.502	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCRTR2	HGNC	protein_coding	OTTHUMT00000043392.1	-	0.00	89	0	G			55142277	+1	tier1	-	no_errors	ENST00000370862	ensembl	human	known	74_37	missense	15.56	38	7	SNP	1.000	A
HM13	81502	genome.wustl.edu	37	20	30142485	30142485	+	Intron	DEL	A	A	-	rs375749810		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr20:30142485delA	ENST00000340852.5	+	8	848				HM13_ENST00000335574.5_Intron|HM13_ENST00000492709.1_Intron|HM13_ENST00000376127.3_Intron|HM13_ENST00000398174.3_Intron	NM_030789.2	NP_110416.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13						membrane protein proteolysis (GO:0033619)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			actccgtctcaaaaaaaaaaa	0.552																																																	0																																										SO:0001627	intron_variant	0			AL110115	CCDS13182.1, CCDS13183.1, CCDS42861.1	20q11.21	2012-02-21			ENSG00000101294	ENSG00000101294			16435	protein-coding gene	gene with protein product	"""signal peptide peptidase beta"", ""presenilin-like protein 3"", ""intramembrane protease"", ""signal peptide peptidase like 1"""	607106				12077416, 14704149	Standard	NM_030789		Approved	H13, dJ324O17.1, SPP, PSL3, IMP1, IMPAS, PSENL3, SPPL1	uc002wwc.3	Q8TCT9	OTTHUMG00000032175	ENST00000340852.5:c.725-64A>-	20.37:g.30142485delA			B2RAY5|E1P5L3|Q15K36|Q540H8|Q5JWP2|Q5JWP3|Q5JWP4|Q5JWP5|Q7Z4F2|Q86Y35|Q95H87|Q9H110|Q9H111	RNA	DEL	-	NULL	ENST00000340852.5	37	NULL	CCDS13182.1	20																																																																																			HM13	-	-	ENSG00000101294		0.552	HM13-011	KNOWN	basic|appris_principal|CCDS	protein_coding	HM13	HGNC	protein_coding	OTTHUMT00000078527.2		0.00	31	0	A	NM_178580		30142485	+1	tier1		no_errors	ENST00000474466	ensembl	human	known	74_37	rna	16.67	10	2	DEL	0.172	-
HNRNPDL	9987	genome.wustl.edu	37	4	83350556	83350556	+	Silent	SNP	T	T	C			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr4:83350556T>C	ENST00000295470.5	-	1	463	c.288A>G	c.(286-288)caA>caG	p.Q96Q	HNRNPDL_ENST00000349655.4_5'UTR|ENOPH1_ENST00000273920.3_5'Flank|HNRNPDL_ENST00000602300.1_5'UTR|HNRNPDL_ENST00000514511.1_5'UTR|ENOPH1_ENST00000509635.1_5'Flank|HNRNPDL_ENST00000502762.1_Silent_p.Q96Q	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	96					regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										CGGCGGAGCGTTGTATGGAGC	0.657																																																	0													33.0	42.0	39.0					4																	83350556		2201	4298	6499	SO:0001819	synonymous_variant	0			D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"""RNA binding motif (RRM) containing"""	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.288A>G	4.37:g.83350556T>C			Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Q96	ENST00000295470.5	37	c.288	CCDS3593.1	4																																																																																			HNRNPDL	-	NULL	ENSG00000152795		0.657	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPDL	HGNC	protein_coding	OTTHUMT00000252644.1	-	0.00	72	0	T	NM_005463		83350556	-1	tier1	-	no_errors	ENST00000295470	ensembl	human	known	74_37	silent	34.04	31	16	SNP	0.998	C
HOMEZ	57594	genome.wustl.edu	37	14	23745776	23745776	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr14:23745776G>T	ENST00000357460.5	-	2	825	c.661C>A	c.(661-663)Caa>Aaa	p.Q221K	HOMEZ_ENST00000561013.1_Missense_Mutation_p.Q223K|HOMEZ_ENST00000431326.2_Missense_Mutation_p.Q223K	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	221					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TGAAGATGTTGCCAAAAATCT	0.537																																																	0													76.0	77.0	76.0					14																	23745776		2022	4166	6188	SO:0001583	missense	0			AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"""Homeoboxes / ZF class"""	20164	protein-coding gene	gene with protein product		608119	"""KIAA1443"""	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.661C>A	14.37:g.23745776G>T	ENSP00000350049:p.Gln221Lys		A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.Q223K	ENST00000357460.5	37	c.667	CCDS45085.1	14	.	.	.	.	.	.	.	.	.	.	G	16.34	3.094769	0.56075	.	.	ENSG00000215271	ENST00000357460;ENST00000431326	T;T	0.25749	1.78;1.78	6.17	6.17	0.99709	.	0.134014	0.53938	D	0.000058	T	0.37839	0.1018	L	0.32530	0.975	0.33058	D	0.533741	D;B	0.58268	0.982;0.172	D;B	0.70227	0.968;0.079	T	0.15809	-1.0424	10	0.13853	T	0.58	-17.1706	16.3795	0.83443	0.0:0.0:1.0:0.0	.	223;221	F8WCA3;Q8IX15	.;HOMEZ_HUMAN	K	221;223	ENSP00000350049:Q221K;ENSP00000406579:Q223K	ENSP00000350049:Q221K	Q	-	1	0	HOMEZ	22815616	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.934000	0.56553	2.941000	0.99782	0.655000	0.94253	CAA	HOMEZ	-	NULL	ENSG00000215271		0.537	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HOMEZ	HGNC	protein_coding	OTTHUMT00000416939.2		0.00	36	0	G	NM_020834		23745776	-1			no_errors	ENST00000431326	ensembl	human	known	74_37	missense	10.00	18	2	SNP	1.000	T
HTR1D	3352	genome.wustl.edu	37	1	23520239	23520239	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:23520239C>T	ENST00000374619.1	-	1	983	c.474G>A	c.(472-474)atG>atA	p.M158I	HTR1D_ENST00000314113.3_Missense_Mutation_p.M158I	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	158					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CAATGGCGATCATGGTGGCCG	0.592																																																	0													68.0	66.0	67.0					1																	23520239		2203	4300	6503	SO:0001583	missense	0			M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5289	protein-coding gene	gene with protein product		182133	"""5-hydroxytryptamine (serotonin) receptor 1D"""	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.474G>A	1.37:g.23520239C>T	ENSP00000363748:p.Met158Ile			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1D_rcpt,prints_5HT_rcpt	p.M158I	ENST00000374619.1	37	c.474	CCDS231.1	1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.479514	0.63849	.	.	ENSG00000179546	ENST00000314113;ENST00000374619	T;T	0.35605	1.3;1.3	5.48	5.48	0.80851	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.60689	0.2288	M	0.68317	2.08	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.62224	-0.6899	10	0.66056	D	0.02	.	18.3358	0.90287	0.0:1.0:0.0:0.0	.	158	P28221	5HT1D_HUMAN	I	158	ENSP00000313661:M158I;ENSP00000363748:M158I	ENSP00000313661:M158I	M	-	3	0	HTR1D	23392826	1.000000	0.71417	0.999000	0.59377	0.218000	0.24690	7.818000	0.86416	2.592000	0.87571	0.591000	0.81541	ATG	HTR1D	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000179546		0.592	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1D	HGNC	protein_coding	OTTHUMT00000008924.1	-	0.00	18	0	C	NM_000864		23520239	-1	tier1	-	no_errors	ENST00000314113	ensembl	human	known	74_37	missense	25.00	12	4	SNP	1.000	T
IDH2	3418	genome.wustl.edu	37	15	90628068	90628069	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr15:90628068_90628069GC>AA	ENST00000330062.3	-	10	1363_1364	c.1250_1251GC>TT	c.(1249-1251)gGC>gTT	p.G417V	IDH2_ENST00000539790.1_Missense_Mutation_p.G287V|RP11-617F23.1_ENST00000558334.1_RNA|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.G365V	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	417					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CGTGAATGCAGCCCGCCAGGTC	0.634			M		GBM																																			Dom	yes		15	15q26.1	3418	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """		M	0																																										SO:0001583	missense	0				CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.1250_1251delinsAA	15.37:g.90628068_90628069delinsAA	ENSP00000331897:p.Gly417Val		B2R6L6|B4DFL2|Q96GT3	Silent|Missense_Mutation	SNP	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	p.G417|p.G417V	ENST00000330062.3	37	c.1251|c.1250	CCDS10359.1	15																																																																																			IDH2	-	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	ENSG00000182054		0.634	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDH2	HGNC	protein_coding	OTTHUMT00000313426.1	-	0.00	59|62	0	G|C			90628068|90628069	-1	tier1	-	no_errors	ENST00000330062	ensembl	human	known	74_37	silent|missense	20.51	31	8	SNP	0.996|1.000	A
IKBKE	9641	genome.wustl.edu	37	1	206667323	206667323	+	Splice_Site	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:206667323C>T	ENST00000367120.3	+	21	2489	c.2116C>T	c.(2116-2118)Cgg>Tgg	p.R706W	IKBKE_ENST00000537984.1_Splice_Site_p.R621W|C1orf147_ENST00000367119.1_Intron	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	706					immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CATCATCGAACGGTAAGGAGC	0.592																																																	0													110.0	88.0	96.0					1																	206667323		2203	4300	6503	SO:0001630	splice_region_variant	0			AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.2117+1C>T	1.37:g.206667323C>T			D3DT78|Q3B754|Q3KR43|Q5JTS6	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.R706W	ENST00000367120.3	37	c.2116	CCDS30996.1	1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344971	0.41498	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.69175	-0.38;-0.25	5.31	0.906	0.19314	.	0.421699	0.25598	N	0.029567	T	0.56529	0.1991	L	0.40543	1.245	0.80722	D	1	D	0.61697	0.99	P	0.46885	0.53	T	0.55464	-0.8137	10	0.87932	D	0	0.2992	6.4495	0.21896	0.5136:0.3149:0.1715:0.0	.	706	Q14164	IKKE_HUMAN	W	706;621	ENSP00000356087:R706W;ENSP00000444529:R621W	ENSP00000356087:R706W	R	+	1	2	IKBKE	204733946	0.985000	0.35326	0.870000	0.34147	0.085000	0.17905	0.513000	0.22770	0.251000	0.21505	0.561000	0.74099	CGG	IKBKE	-	NULL	ENSG00000143466		0.592	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKE	HGNC	protein_coding	OTTHUMT00000088484.1	-	0.00	68	0	C		Missense_Mutation	206667323	+1	tier1	-	no_errors	ENST00000367120	ensembl	human	known	74_37	missense	26.67	22	8	SNP	0.954	T
INO80C	125476	genome.wustl.edu	37	18	33077820	33077820	+	Missense_Mutation	SNP	T	T	C	rs375954359		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr18:33077820T>C	ENST00000334598.7	-	1	135	c.19A>G	c.(19-21)Att>Gtt	p.I7V	INO80C_ENST00000586489.1_5'Flank|INO80C_ENST00000590757.1_Missense_Mutation_p.I7V|INO80C_ENST00000441607.2_Missense_Mutation_p.I7V|RP11-322E11.6_ENST00000589258.1_Missense_Mutation_p.I7V|INO80C_ENST00000592173.1_Missense_Mutation_p.I7V	NM_194281.3	NP_919257.2	Q6PI98	IN80C_HUMAN	INO80 complex subunit C	7					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)		p.I7F(1)		central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						GTGGCCACAATTGGAATTTGC	0.622																																																	1	Substitution - Missense(1)	endometrium(1)						T	VAL/ILE,VAL/ILE	0,4406		0,0,2203	32.0	31.0	31.0		19,19	2.1	0.5	18		31	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	INO80C	NM_001098817.1,NM_194281.3	29,29	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign	7/229,7/193	33077820	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS11914.1, CCDS45853.1	18q12.2	2011-07-06	2008-08-07	2008-08-07	ENSG00000153391	ENSG00000153391		"""INO80 complex subunits"""	26994	protein-coding gene	gene with protein product	"""IES6 homolog (S. cerevisiae)"""		"""chromosome 18 open reading frame 37"""	C18orf37		16230350	Standard	NM_001098817		Approved	FLJ38183, hIes6, IES6	uc010dmt.3	Q6PI98	OTTHUMG00000132564	ENST00000334598.7:c.19A>G	18.37:g.33077820T>C	ENSP00000334473:p.Ile7Val		B4DUI4|E9PCS7|Q86WR1|Q8N994	Missense_Mutation	SNP	pfam_YL1_C	p.I7V	ENST00000334598.7	37	c.19	CCDS11914.1	18	.	.	.	.	.	.	.	.	.	.	T	10.99	1.506749	0.26949	0.0	1.16E-4	ENSG00000153391	ENST00000283410;ENST00000441607;ENST00000334598	.	.	.	4.61	2.06	0.26882	.	0.501226	0.20400	N	0.093061	T	0.33469	0.0864	N	0.22421	0.69	0.54753	D	0.999985	B;B;B	0.27932	0.015;0.003;0.194	B;B;B	0.26864	0.017;0.007;0.074	T	0.04870	-1.0921	9	0.21540	T	0.41	.	8.8574	0.35236	0.0:0.0:0.3702:0.6298	.	7;7;7	E9PCS7;Q6PI98;Q6PI98-3	.;IN80C_HUMAN;.	V	7	.	ENSP00000283410:I7V	I	-	1	0	INO80C	31331818	0.997000	0.39634	0.468000	0.27192	0.428000	0.31595	1.108000	0.31123	0.320000	0.23234	0.454000	0.30748	ATT	INO80C	-	NULL	ENSG00000153391		0.622	INO80C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80C	HGNC	protein_coding	OTTHUMT00000255768.1	-	0.00	119	0	T	NM_194281		33077820	-1	tier1	-	no_errors	ENST00000441607	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.556	C
INPP5K	51763	genome.wustl.edu	37	17	1412530	1412530	+	Silent	SNP	G	G	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr17:1412530G>T	ENST00000421807.2	-	5	884	c.496C>A	c.(496-498)Cgg>Agg	p.R166R	INPP5K_ENST00000320345.6_Silent_p.R90R|INPP5K_ENST00000406424.4_Silent_p.R90R|INPP5K_ENST00000542125.1_Intron|INPP5K_ENST00000397335.3_Silent_p.R74R	NM_016532.3	NP_057616.2	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	166	Catalytic. {ECO:0000255}.				actin cytoskeleton organization (GO:0030036)|cellular response to cAMP (GO:0071320)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hormone stimulus (GO:0032870)|cellular response to insulin stimulus (GO:0032869)|cellular response to tumor necrosis factor (GO:0071356)|dephosphorylation (GO:0016311)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inositol phosphate dephosphorylation (GO:0046855)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of dephosphorylation (GO:0035305)|negative regulation of glucose transport (GO:0010829)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of renal water transport (GO:2001153)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|protein targeting to plasma membrane (GO:0072661)|regulation of glycogen biosynthetic process (GO:0005979)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	inositol bisphosphate phosphatase activity (GO:0016312)|inositol trisphosphate phosphatase activity (GO:0046030)|inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|lipid phosphatase activity (GO:0042577)|phosphatidylinositol phosphate 5-phosphatase activity (GO:0034595)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)|vasopressin receptor activity (GO:0005000)			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						TCCAGGATCCGGTCAAAGTGC	0.562																																																	0													89.0	73.0	78.0					17																	1412530		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11004.1, CCDS11005.1	17p13.3	2008-09-09			ENSG00000132376	ENSG00000132376			33882	protein-coding gene	gene with protein product	"""skeletal muscle and kidney enriched inositol phosphatase"""	607875				10753883, 12536145	Standard	NM_016532		Approved	SKIP	uc002fsr.3	Q9BT40	OTTHUMG00000150648	ENST00000421807.2:c.496C>A	17.37:g.1412530G>T			B2R6I2|B2R750|D3DTH8|Q15733|Q9NPJ5|Q9P2R5	Silent	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	p.R166	ENST00000421807.2	37	c.496	CCDS11004.1	17																																																																																			INPP5K	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	ENSG00000132376		0.562	INPP5K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5K	HGNC	protein_coding	OTTHUMT00000319381.4	-	0.00	104	0	G			1412530	-1	tier1	-	no_errors	ENST00000421807	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.999	T
JAK1	3716	genome.wustl.edu	37	1	65321352	65321352	+	Missense_Mutation	SNP	C	C	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:65321352C>A	ENST00000342505.4	-	11	1736	c.1488G>T	c.(1486-1488)aaG>aaT	p.K496N		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	496	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.K496N(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TCTGAAAGTTCTTGAACTGCT	0.502			Mis		ALL																																			Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	1	Substitution - Missense(1)	lung(1)											65.0	65.0	65.0					1																	65321352		1958	4146	6104	SO:0001583	missense	0			M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.1488G>T	1.37:g.65321352C>A	ENSP00000343204:p.Lys496Asn		Q59GQ2|Q9UD26	Missense_Mutation	SNP	pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom	p.K496N	ENST00000342505.4	37	c.1488	CCDS41346.1	1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330463	0.81690	.	.	ENSG00000162434	ENST00000342505	T	0.09163	3.01	4.53	4.53	0.55603	SH2 motif (3);	.	.	.	.	T	0.24005	0.0581	M	0.81497	2.545	0.53005	D	0.999966	D	0.76494	0.999	D	0.80764	0.994	T	0.00688	-1.1609	9	0.87932	D	0	-7.3002	11.0204	0.47715	0.0:0.9137:0.0:0.0863	.	496	P23458	JAK1_HUMAN	N	496	ENSP00000343204:K496N	ENSP00000343204:K496N	K	-	3	2	JAK1	65093940	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.199000	0.58426	2.519000	0.84933	0.655000	0.94253	AAG	JAK1	-	pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,smart_SH2,prints_Tyr_kinase_non-rcpt_Jak1,pfscan_SH2	ENSG00000162434		0.502	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK1	HGNC	protein_coding	OTTHUMT00000025791.1		0.00	45	0	C	NM_002227		65321352	-1			no_errors	ENST00000342505	ensembl	human	known	74_37	missense	8.33	22	2	SNP	1.000	A
INTS7	25896	genome.wustl.edu	37	1	212120048	212120048	+	Splice_Site	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:212120048C>T	ENST00000366994.3	-	18	2421		c.e18-1		INTS7_ENST00000469606.1_Splice_Site|INTS7_ENST00000440600.2_Splice_Site|INTS7_ENST00000366992.3_Intron|INTS7_ENST00000366993.3_Splice_Site	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7						cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		ATGCTGTGTGCTGGGGGAAAA	0.348																																																	0													48.0	50.0	50.0					1																	212120048		2203	4300	6503	SO:0001630	splice_region_variant	0			AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.2317-1G>A	1.37:g.212120048C>T			B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Splice_Site	SNP	-	e17-1	ENST00000366994.3	37	c.2170-1	CCDS1501.1	1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216601	0.79352	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000440600	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9694	0.97278	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	INTS7	210186671	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	7.201000	0.77847	2.719000	0.93026	0.655000	0.94253	.	INTS7	-	-	ENSG00000143493		0.348	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	INTS7	HGNC	protein_coding	OTTHUMT00000090142.1	-	0.00	92	0	C	NM_015434	Intron	212120048	-1	tier1	-	no_errors	ENST00000440600	ensembl	human	known	74_37	splice_site	6.90	54	4	SNP	1.000	T
KALRN	8997	genome.wustl.edu	37	3	124351417	124351417	+	Missense_Mutation	SNP	G	G	A	rs368927353		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr3:124351417G>A	ENST00000291478.5	+	2	399	c.236G>A	c.(235-237)cGt>cAt	p.R79H	KALRN_ENST00000393496.1_Missense_Mutation_p.R149H|KALRN_ENST00000360013.3_Missense_Mutation_p.R1776H|KALRN_ENST00000428018.2_Missense_Mutation_p.R79H	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1776	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R79H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGTCCTGTGCGTCGGCTTAAC	0.572																																																	1	Substitution - Missense(1)	kidney(1)						G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	65.0	70.0	68.0		5327,236	5.0	1.0	3		68	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KALRN	NM_001024660.3,NM_007064.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1776/2987,79/1290	124351417	1,13005	2203	4300	6503	SO:0001583	missense	0			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.236G>A	3.37:g.124351417G>A	ENSP00000291478:p.Arg79His		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.R1776H	ENST00000291478.5	37	c.5327	CCDS3028.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.503265|5.503265	0.96371|0.96371	0.0|0.0	1.16E-4|1.16E-4	ENSG00000160145|ENSG00000160145	ENST00000360013;ENST00000393496;ENST00000291478;ENST00000454902;ENST00000428018|ENST00000354186	T;T;T;T|.	0.78126|.	-0.73;-0.42;-0.95;-1.15|.	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74458|0.74458	0.3719|0.3719	M|M	0.67700|0.67700	2.07|2.07	0.48696|0.48696	D|D	0.99969|0.99969	D;D;D|.	0.76494|.	0.977;0.97;0.999|.	P;P;D|.	0.76071|.	0.751;0.59;0.987|.	T|T	0.73304|0.73304	-0.4025|-0.4025	10|5	0.87932|.	D|.	0|.	.|.	18.5571|18.5571	0.91089|0.91089	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	79;149;1776|.	C9JQ37;O60229-5;O60229|.	.;.;KALRN_HUMAN|.	H|I	1776;149;79;79;79|1745	ENSP00000353109:R1776H;ENSP00000377134:R149H;ENSP00000291478:R79H;ENSP00000402419:R79H|.	ENSP00000291478:R79H|.	R|V	+|+	2|1	0|0	KALRN|KALRN	125834107|125834107	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	7.397000|7.397000	0.79903|0.79903	2.619000|2.619000	0.88677|0.88677	0.498000|0.498000	0.49722|0.49722	CGT|GTC	KALRN	-	NULL	ENSG00000160145		0.572	KALRN-001	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000246891.5	-	0.00	53	0	G	NM_003947		124351417	+1	tier1	-	no_errors	ENST00000360013	ensembl	human	known	74_37	missense	14.58	41	7	SNP	1.000	A
KCNA1	3736	genome.wustl.edu	37	12	5021930	5021930	+	Missense_Mutation	SNP	T	T	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:5021930T>A	ENST00000382545.3	+	2	2493	c.1386T>A	c.(1384-1386)aaT>aaA	p.N462K	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	462					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	AGGATATGAATAATAGCATAG	0.448																																																	0													174.0	171.0	172.0					12																	5021930		2203	4300	6503	SO:0001583	missense	0			L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.1386T>A	12.37:g.5021930T>A	ENSP00000371985:p.Asn462Lys		A6NM83|Q3MIQ9	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3	p.N462K	ENST00000382545.3	37	c.1386	CCDS8535.1	12	.	.	.	.	.	.	.	.	.	.	T	5.671	0.308400	0.10733	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.95949	-3.86	5.35	2.62	0.31277	.	0.103230	0.64402	D	0.000005	D	0.86904	0.6045	N	0.16368	0.405	0.58432	D	0.999996	B	0.06786	0.001	B	0.08055	0.003	T	0.76085	-0.3088	10	0.06099	T	0.92	.	8.1381	0.31067	0.0:0.2008:0.0:0.7992	.	462	Q09470	KCNA1_HUMAN	K	462	ENSP00000371985:N462K	ENSP00000228858:N462K	N	+	3	2	KCNA1	4892191	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	2.982000	0.49337	0.423000	0.26033	0.533000	0.62120	AAT	KCNA1	-	NULL	ENSG00000111262		0.448	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KCNA1	HGNC	protein_coding	OTTHUMT00000103343.2	-	0.00	42	0	T	NM_000217		5021930	+1	tier1	-	no_errors	ENST00000382545	ensembl	human	known	74_37	missense	30.00	14	6	SNP	1.000	A
KCNT2	343450	genome.wustl.edu	37	1	196436841	196436841	+	Missense_Mutation	SNP	T	T	G			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:196436841T>G	ENST00000294725.9	-	7	1450	c.535A>C	c.(535-537)Aat>Cat	p.N179H	KCNT2_ENST00000367433.5_Missense_Mutation_p.N179H|KCNT2_ENST00000498426.1_5'Flank|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.N179H|KCNT2_ENST00000367431.4_Missense_Mutation_p.N179H			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	179					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ACAATCATATTTTCCAAGGCA	0.308																																																	0													43.0	45.0	44.0					1																	196436841		2202	4294	6496	SO:0001583	missense	0			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.535A>C	1.37:g.196436841T>G	ENSP00000294725:p.Asn179His		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom	p.N179H	ENST00000294725.9	37	c.535	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004118	0.74932	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.21543	2.0;2.0;2.0	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000006	T	0.44030	0.1274	M	0.71581	2.175	0.80722	D	1	P;D;B;P	0.63880	0.932;0.993;0.35;0.932	P;D;B;P	0.71870	0.827;0.975;0.236;0.827	T	0.32666	-0.9898	10	0.45353	T	0.12	-27.1943	13.7845	0.63102	0.0:0.0:0.0:1.0	.	179;179;179;179	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	H	179	ENSP00000356403:N179H;ENSP00000356401:N179H;ENSP00000294725:N179H	ENSP00000294725:N179H	N	-	1	0	KCNT2	194703464	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.966000	0.76073	2.097000	0.63578	0.482000	0.46254	AAT	KCNT2	-	NULL	ENSG00000162687		0.308	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	HGNC	protein_coding	OTTHUMT00000086418.2	-	0.00	113	0	T	NM_198503		196436841	-1	tier1	-	no_errors	ENST00000294725	ensembl	human	known	74_37	missense	24.14	44	14	SNP	1.000	G
KDM6A	7403	genome.wustl.edu	37	X	44949998	44949998	+	Missense_Mutation	SNP	A	A	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chrX:44949998A>T	ENST00000377967.4	+	26	3808	c.3767A>T	c.(3766-3768)tAc>tTc	p.Y1256F	KDM6A_ENST00000382899.4_Missense_Mutation_p.Y1263F|KDM6A_ENST00000536777.1_Missense_Mutation_p.Y1211F|KDM6A_ENST00000543216.1_Missense_Mutation_p.Y1177F	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1256	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GTGGAACGGTACGAATGGAAC	0.373			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)			Rec	yes		X	Xp11.2	7403	"""lysine (K)-specific demethylase 6A, UTX"""		"""E, L"""	6	Whole gene deletion(6)	oesophagus(2)|breast(2)|pancreas(2)											158.0	131.0	140.0					X																	44949998		2203	4300	6503	SO:0001583	missense	0			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3767A>T	X.37:g.44949998A>T	ENSP00000367203:p.Tyr1256Phe		Q52LL9|Q5JVQ7	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.Y1263F	ENST00000377967.4	37	c.3788	CCDS14265.1	X	.	.	.	.	.	.	.	.	.	.	A	21.0	4.086222	0.76642	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63	5.58	5.58	0.84498	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	T	0.81777	0.4894	M	0.61703	1.905	0.80722	D	1	D;D;P;P;D	0.69078	0.993;0.996;0.65;0.942;0.997	D;D;P;P;D	0.81914	0.956;0.98;0.519;0.656;0.995	T	0.82739	-0.0308	10	0.52906	T	0.07	-11.5031	14.8446	0.70251	1.0:0.0:0.0:0.0	.	895;1263;1211;1308;1256	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;O15550	.;.;.;.;KDM6A_HUMAN	F	953;1256;1211;1263;1177	ENSP00000367203:Y1256F;ENSP00000437405:Y1211F;ENSP00000372355:Y1263F;ENSP00000443078:Y1177F	ENSP00000334340:Y953F	Y	+	2	0	KDM6A	44834942	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.027000	0.76463	1.887000	0.54652	0.430000	0.28490	TAC	KDM6A	-	smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000147050		0.373	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	-	0.00	55	0	A	NM_021140		44949998	+1	tier1	-	no_errors	ENST00000382899	ensembl	human	known	74_37	missense	36.84	12	7	SNP	1.000	T
KEAP1	9817	genome.wustl.edu	37	19	10602767	10602767	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:10602767C>T	ENST00000171111.5	-	3	1358	c.811G>A	c.(811-813)Gtg>Atg	p.V271M	KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.V271M|CTC-429L19.3_ENST00000592671.1_RNA	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	271	BACK.				cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	TGGCAGCGCACGGCCCGCAGC	0.617																																																	0													57.0	57.0	57.0					19																	10602767		2203	4300	6503	SO:0001583	missense	0			AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.811G>A	19.37:g.10602767C>T	ENSP00000171111:p.Val271Met		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.V271M	ENST00000171111.5	37	c.811	CCDS12239.1	19	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872774	0.91587	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.78003	-1.14;-1.14	5.61	5.61	0.85477	BTB/Kelch-associated (2);	0.056422	0.64402	D	0.000001	D	0.90477	0.7017	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	D	0.92433	0.5955	10	0.87932	D	0	.	17.1459	0.86766	0.0:1.0:0.0:0.0	.	271	Q14145	KEAP1_HUMAN	M	271	ENSP00000171111:V271M;ENSP00000377245:V271M	ENSP00000171111:V271M	V	-	1	0	KEAP1	10463767	1.000000	0.71417	0.997000	0.53966	0.942000	0.58702	5.874000	0.69652	2.656000	0.90262	0.561000	0.74099	GTG	KEAP1	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000079999		0.617	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KEAP1	HGNC	protein_coding	OTTHUMT00000452000.1	-	0.00	29	0	C	NM_012289		10602767	-1	tier1	-	no_errors	ENST00000171111	ensembl	human	known	74_37	missense	22.73	17	5	SNP	1.000	T
KIF14	9928	genome.wustl.edu	37	1	200572411	200572411	+	Missense_Mutation	SNP	G	G	A	rs142004534		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:200572411G>A	ENST00000367350.4	-	10	2360	c.1922C>T	c.(1921-1923)tCg>tTg	p.S641L		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	641	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)	p.S641L(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TGCTTGTTCCGAAAGTGCAGA	0.303																																																	1	Substitution - Missense(1)	lung(1)						G	LEU/SER	2,4404	4.2+/-10.8	0,2,2201	97.0	100.0	99.0		1922	5.6	0.2	1	dbSNP_134	99	1,8595	1.2+/-3.3	0,1,4297	no	missense	KIF14	NM_014875.2	145	0,3,6498	AA,AG,GG		0.0116,0.0454,0.0231	possibly-damaging	641/1649	200572411	3,12999	2203	4298	6501	SO:0001583	missense	0			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.1922C>T	1.37:g.200572411G>A	ENSP00000356319:p.Ser641Leu		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S641L	ENST00000367350.4	37	c.1922	CCDS30963.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.142914	0.94560	4.54E-4	1.16E-4	ENSG00000118193	ENST00000367350	T	0.75589	-0.95	5.56	5.56	0.83823	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.86961	0.6059	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.88033	0.2776	10	0.87932	D	0	.	19.5216	0.95187	0.0:0.0:1.0:0.0	.	641	Q15058	KIF14_HUMAN	L	641	ENSP00000356319:S641L	ENSP00000356319:S641L	S	-	2	0	KIF14	198839034	1.000000	0.71417	0.176000	0.23000	0.976000	0.68499	9.444000	0.97578	2.602000	0.87976	0.591000	0.81541	TCG	KIF14	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom	ENSG00000118193		0.303	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF14	HGNC	protein_coding	OTTHUMT00000086878.1		0.00	75	0	G	NM_014875		200572411	-1			no_errors	ENST00000367350	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.998	A
KIF19	124602	genome.wustl.edu	37	17	72346553	72346553	+	Silent	SNP	G	G	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr17:72346553G>A	ENST00000389916.4	+	11	1365	c.1227G>A	c.(1225-1227)ctG>ctA	p.L409L		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	409					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AGGTCCAGCTGCACAGCGGGC	0.667																																																	0													10.0	12.0	11.0					17																	72346553		2188	4287	6475	SO:0001819	synonymous_variant	0			AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.1227G>A	17.37:g.72346553G>A			A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.L409	ENST00000389916.4	37	c.1227	CCDS32718.2	17																																																																																			KIF19	-	NULL	ENSG00000196169		0.667	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF19	HGNC	protein_coding	OTTHUMT00000319644.2	-	0.00	97	0	G	NM_153209		72346553	+1	tier1	-	no_errors	ENST00000389916	ensembl	human	known	74_37	silent	6.15	61	4	SNP	0.977	A
KIF20A	10112	genome.wustl.edu	37	5	137517359	137517359	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr5:137517359C>T	ENST00000394894.3	+	4	543	c.317C>T	c.(316-318)gCc>gTc	p.A106V	KIF20A_ENST00000508792.1_Missense_Mutation_p.A88V|BRD8_ENST00000254900.5_5'Flank	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	106	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GACTCTTTTGCCCTGAAGAGC	0.473																																																	0													121.0	117.0	118.0					5																	137517359		2203	4300	6503	SO:0001583	missense	0			AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"""Kinesins"""	9787	protein-coding gene	gene with protein product		605664	"""RAB6 interacting, kinesin-like (rabkinesin6)"""	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.317C>T	5.37:g.137517359C>T	ENSP00000378356:p.Ala106Val		B4DL79|D3DQB6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A106V	ENST00000394894.3	37	c.317	CCDS4199.1	5	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945819	0.73672	.	.	ENSG00000112984	ENST00000513276;ENST00000394894;ENST00000508792;ENST00000504621	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	5.68	5.68	0.88126	Kinesin, motor domain (4);	0.000000	0.44902	D	0.000414	T	0.72708	0.3494	N	0.21373	0.66	0.42095	D	0.99131	B;P	0.46859	0.008;0.885	B;P	0.51324	0.064;0.666	T	0.69363	-0.5165	10	0.25751	T	0.34	-15.1481	19.7852	0.96433	0.0:1.0:0.0:0.0	.	88;106	B4DL79;O95235	.;KI20A_HUMAN	V	106;106;88;106	ENSP00000422928:A106V;ENSP00000378356:A106V;ENSP00000420880:A88V;ENSP00000424056:A106V	ENSP00000378356:A106V	A	+	2	0	KIF20A	137545258	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.185000	0.50934	2.682000	0.91365	0.514000	0.50259	GCC	KIF20A	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000112984		0.473	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF20A	HGNC	protein_coding	OTTHUMT00000251272.1	-	0.00	80	0	C	NM_005733		137517359	+1	tier1	-	no_errors	ENST00000394894	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T
KIF9	64147	genome.wustl.edu	37	3	47288042	47288043	+	Intron	DEL	TT	TT	-	rs74487328|rs11333588|rs397989454|rs553307316	byFrequency	TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr3:47288042_47288043delTT	ENST00000265529.3	-	14	1914				KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000352910.4_Intron|KIF9_ENST00000444589.2_Intron|KIF9_ENST00000452770.2_Intron|KIF9_ENST00000335044.2_Intron|KIF9_ENST00000487440.1_Intron			Q9HAQ2	KIF9_HUMAN	kinesin family member 9						ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CTTCTAAAGGtttttttttttt	0.342																																					Colon(44;962 1147 15977 24541)												0																																										SO:0001627	intron_variant	0			AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.1234-300AA>-	3.37:g.47288052_47288053delTT			Q86Z28|Q9H8A4	RNA	DEL	-	NULL	ENST00000265529.3	37	NULL	CCDS2752.1	3																																																																																			KIF9-AS1	-	-	ENSG00000227398		0.342	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF9-AS1	HGNC	protein_coding	OTTHUMT00000257475.2		0.00	14	0	TT			47288043	+1	tier1		no_errors	ENST00000429315	ensembl	human	known	74_37	rna	16.67	10	2	DEL	0.000:0.001	-
KLHL24	54800	genome.wustl.edu	37	3	183381296	183381296	+	Missense_Mutation	SNP	T	T	C			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr3:183381296T>C	ENST00000454652.2	+	5	1357	c.971T>C	c.(970-972)gTt>gCt	p.V324A	KLHL24_ENST00000476808.1_Missense_Mutation_p.V324A|KLHL24_ENST00000242810.6_Missense_Mutation_p.V324A	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	324						cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			TGTGAGCGAGTTGGAGGATTT	0.363																																																	0													172.0	156.0	162.0					3																	183381296		2203	4300	6503	SO:0001583	missense	0				CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"""Kelch-like"", ""BTB/POZ domain containing"""	25947	protein-coding gene	gene with protein product		611295	"""kelch-like 24 (Drosophila)"""				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.971T>C	3.37:g.183381296T>C	ENSP00000395012:p.Val324Ala		A5PLN8|Q9H620|Q9NXT9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.V324A	ENST00000454652.2	37	c.971	CCDS3246.1	3	.	.	.	.	.	.	.	.	.	.	T	12.72	2.023718	0.35701	.	.	ENSG00000114796	ENST00000242810;ENST00000454652;ENST00000476808	T;T;T	0.65178	-0.14;-0.14;-0.14	5.34	5.34	0.76211	Galactose oxidase, beta-propeller (1);	0.118515	0.56097	D	0.000024	T	0.46580	0.1400	N	0.21282	0.65	0.58432	D	0.999996	B;B	0.28971	0.229;0.001	B;B	0.32211	0.142;0.02	T	0.42224	-0.9464	10	0.05525	T	0.97	.	15.6181	0.76784	0.0:0.0:0.0:1.0	.	324;324	Q6TFL4-2;Q6TFL4	.;KLH24_HUMAN	A	324	ENSP00000242810:V324A;ENSP00000395012:V324A;ENSP00000419010:V324A	ENSP00000242810:V324A	V	+	2	0	KLHL24	184863990	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.834000	0.62774	2.161000	0.67846	0.379000	0.24179	GTT	KLHL24	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000114796		0.363	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KLHL24	HGNC	protein_coding	OTTHUMT00000346586.2		0.00	77	0	T	NM_017644		183381296	+1			no_errors	ENST00000242810	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	C
KLHL38	340359	genome.wustl.edu	37	8	124664837	124664837	+	Silent	SNP	G	G	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr8:124664837G>A	ENST00000325995.7	-	1	353	c.330C>T	c.(328-330)gcC>gcT	p.A110A	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	110										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GCATGGAGGCGGCCTCCATCA	0.577																																																	0													60.0	66.0	64.0					8																	124664837		2029	4187	6216	SO:0001819	synonymous_variant	0				CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.330C>T	8.37:g.124664837G>A			A0PK12	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.A110	ENST00000325995.7	37	c.330	CCDS43766.1	8																																																																																			KLHL38	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin	ENSG00000175946		0.577	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL38	HGNC	protein_coding	OTTHUMT00000381288.1	-	0.00	30	0	G			124664837	-1	tier1	-	no_errors	ENST00000325995	ensembl	human	known	74_37	silent	39.13	14	9	SNP	0.000	A
KMT2D	8085	genome.wustl.edu	37	12	49416552	49416552	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:49416552G>A	ENST00000301067.7	-	51	16158	c.16159C>T	c.(16159-16161)Cag>Tag	p.Q5387*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5387					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)	p.Q5387*(1)|p.Q5117*(1)									CGCCGGTACTGAGATGACTTG	0.562																																																	2	Substitution - Nonsense(2)	urinary_tract(2)											110.0	122.0	118.0					12																	49416552		2099	4220	6319	SO:0001587	stop_gained	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.16159C>T	12.37:g.49416552G>A	ENSP00000301067:p.Gln5387*		O14687	Nonsense_Mutation	SNP	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.Q5387*	ENST00000301067.7	37	c.16159	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	56	26.644177	0.99969	.	.	ENSG00000167548	ENST00000301067;ENST00000526209	.	.	.	5.09	5.09	0.68999	.	0.000000	0.33938	N	0.004409	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.6392	0.88130	0.0:0.0:1.0:0.0	.	.	.	.	X	5387;68	.	ENSP00000301067:Q5387X	Q	-	1	0	MLL2	47702819	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.760000	0.98935	2.546000	0.85860	0.591000	0.81541	CAG	KMT2D	-	NULL	ENSG00000167548		0.562	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2	-	0.00	62	0	G			49416552	-1	tier1	-	no_errors	ENST00000301067	ensembl	human	known	74_37	nonsense	33.33	20	10	SNP	1.000	A
LCAT	3931	genome.wustl.edu	37	16	67976482	67976482	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr16:67976482C>T	ENST00000264005.5	-	5	561	c.532G>A	c.(532-534)Gag>Aag	p.E178K	CTC-479C5.17_ENST00000590594.1_lincRNA	NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	178					cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of high-density lipoprotein particle assembly (GO:0090107)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	apolipoprotein A-I binding (GO:0034186)|phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607)			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		TAGTACTCCTCCTGCTGGCCT	0.652																																																	0													49.0	44.0	46.0					16																	67976482		2198	4299	6497	SO:0001583	missense	0				CCDS10854.1	16q22.1	2012-10-02			ENSG00000213398	ENSG00000213398	2.3.1.43		6522	protein-coding gene	gene with protein product		606967					Standard	NM_000229		Approved		uc002euy.1	P04180	OTTHUMG00000137551	ENST00000264005.5:c.532G>A	16.37:g.67976482C>T	ENSP00000264005:p.Glu178Lys		Q53XQ3	Missense_Mutation	SNP	pfam_LACT/PDAT_acylTrfase	p.E178K	ENST00000264005.5	37	c.532	CCDS10854.1	16	.	.	.	.	.	.	.	.	.	.	C	9.809	1.182580	0.21870	.	.	ENSG00000213398	ENST00000264005	D	0.95885	-3.84	5.61	3.55	0.40652	.	0.467542	0.21183	U	0.078787	D	0.88529	0.6461	L	0.28400	0.85	0.24012	N	0.996178	B	0.02656	0.0	B	0.06405	0.002	T	0.73335	-0.4015	10	0.10111	T	0.7	-7.0144	5.4569	0.16596	0.0:0.6617:0.1654:0.1729	.	178	P04180	LCAT_HUMAN	K	178	ENSP00000264005:E178K	ENSP00000264005:E178K	E	-	1	0	LCAT	66533983	0.568000	0.26635	1.000000	0.80357	0.972000	0.66771	2.124000	0.42006	1.385000	0.46445	0.650000	0.86243	GAG	LCAT	-	pfam_LACT/PDAT_acylTrfase	ENSG00000213398		0.652	LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCAT	HGNC	protein_coding	OTTHUMT00000268885.3	-	0.00	32	0	C			67976482	-1	tier1	-	no_errors	ENST00000264005	ensembl	human	known	74_37	missense	47.83	12	11	SNP	0.996	T
LNPEP	4012	genome.wustl.edu	37	5	96315139	96315139	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr5:96315139C>T	ENST00000231368.5	+	2	1009	c.317C>T	c.(316-318)cCc>cTc	p.P106L	LNPEP_ENST00000395770.3_Missense_Mutation_p.P92L	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	106					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TGTTCAGTACCCTCTGCAAGG	0.488																																																	0													76.0	81.0	80.0					5																	96315139		2203	4300	6503	SO:0001583	missense	0			D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.317C>T	5.37:g.96315139C>T	ENSP00000231368:p.Pro106Leu		O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.P106L	ENST00000231368.5	37	c.317	CCDS4087.1	5	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559701	0.27827	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.01221	5.15;5.15	6.07	4.31	0.51392	.	0.103824	0.64402	N	0.000003	T	0.01353	0.0044	N	0.17082	0.46	0.80722	D	1	P	0.36647	0.563	B	0.36808	0.233	T	0.72070	-0.4401	10	0.37606	T	0.19	.	12.7918	0.57539	0.0:0.8667:0.0:0.1333	.	106	Q9UIQ6	LCAP_HUMAN	L	106;92	ENSP00000231368:P106L;ENSP00000379117:P92L	ENSP00000231368:P106L	P	+	2	0	LNPEP	96340895	0.996000	0.38824	0.728000	0.30774	0.260000	0.26232	2.354000	0.44098	0.916000	0.36871	-0.225000	0.12378	CCC	LNPEP	-	NULL	ENSG00000113441		0.488	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNPEP	HGNC	protein_coding	OTTHUMT00000250624.1	-	0.00	41	0	C	NM_005575		96315139	+1	tier1	-	no_errors	ENST00000231368	ensembl	human	known	74_37	missense	38.10	13	8	SNP	1.000	T
LOC152225	152225	genome.wustl.edu	37	3	101713621	101713621	+	lincRNA	SNP	T	T	G			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr3:101713621T>G	ENST00000465215.1	+	0	485				RP11-221J22.2_ENST00000483840.1_lincRNA	NR_026934.1																						GACTTTGAAGTAATGGATGAA	0.348																																																	0																																												0																															3.37:g.101713621T>G				RNA	SNP	-	NULL	ENST00000465215.1	37	NULL		3																																																																																			RP11-221J22.1	-	-	ENSG00000214407		0.348	RP11-221J22.1-001	KNOWN	basic	lincRNA	LOC152225	Clone_based_vega_gene	lincRNA	OTTHUMT00000353854.1	-	0.00	61	0	T			101713621	+1	tier1	-	no_errors	ENST00000465215	ensembl	human	known	74_37	rna	18.75	52	12	SNP	0.311	G
AADACL2-AS1	101928142	genome.wustl.edu	37	3	151493535	151493537	+	RNA	DEL	TGT	TGT	-			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	TGT	TGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr3:151493535_151493537delTGT	ENST00000483843.2	-	0	439				RP11-454C18.2_ENST00000475855.1_RNA|RP11-64D22.2_ENST00000483636.1_RNA																							GACTTAATGCTGTTGTTGTATCA	0.34																																																	0																																												0																															3.37:g.151493541_151493543delTGT				RNA	DEL	-	NULL	ENST00000483843.2	37	NULL		3																																																																																			RP11-64D22.2	-	-	ENSG00000240602		0.340	RP11-454C18.2-001	KNOWN	basic	antisense	LOC201651	Clone_based_vega_gene	antisense	OTTHUMT00000357888.2		0.00	152	0	TGT			151493537	+1	tier1		no_errors	ENST00000462937	ensembl	human	known	74_37	rna	59.26	44	64	DEL	0.999:1.000:0.998	-
LRP4	4038	genome.wustl.edu	37	11	46911974	46911974	+	Missense_Mutation	SNP	C	C	T	rs149435615		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr11:46911974C>T	ENST00000378623.1	-	14	2011	c.1769G>A	c.(1768-1770)cGc>cAc	p.R590H		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	590					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GGCAATGATGCGGCGTCCAGA	0.547											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								C	HIS/ARG	2,4400	4.2+/-10.8	0,2,2199	61.0	55.0	57.0		1769	4.8	1.0	11	dbSNP_134	57	3,8595	3.0+/-9.4	0,3,4296	yes	missense	LRP4	NM_002334.3	29	0,5,6495	TT,TC,CC		0.0349,0.0454,0.0385	benign	590/1906	46911974	5,12995	2201	4299	6500	SO:0001583	missense	0			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.1769G>A	11.37:g.46911974C>T	ENSP00000367888:p.Arg590His	942	B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_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_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.R590H	ENST00000378623.1	37	c.1769	CCDS31478.1	11	.	.	.	.	.	.	.	.	.	.	C	21.2	4.117355	0.77323	4.54E-4	3.49E-4	ENSG00000134569	ENST00000378623	D	0.93659	-3.26	5.73	4.82	0.62117	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.89736	0.6801	L	0.48935	1.535	0.58432	D	0.999999	P	0.35481	0.504	B	0.30855	0.121	D	0.88413	0.3023	10	0.37606	T	0.19	.	14.9247	0.70868	0.0:0.9314:0.0:0.0686	.	590	O75096	LRP4_HUMAN	H	590	ENSP00000367888:R590H	ENSP00000367888:R590H	R	-	2	0	LRP4	46868550	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.875000	0.63072	1.558000	0.49541	0.655000	0.94253	CGC	LRP4	-	pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000134569		0.547	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP4	HGNC	protein_coding	OTTHUMT00000391133.1		0.00	40	0	C	NM_002334		46911974	-1			no_errors	ENST00000378623	ensembl	human	known	74_37	missense	13.64	19	3	SNP	1.000	T
LOC440040	440040	genome.wustl.edu	37	11	49831413	49831413	+	RNA	SNP	A	A	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr11:49831413A>T	ENST00000527477.1	+	0	1638																											AACACCTACAAGTTTTCTTGC	0.448																																																	0																																												0																															11.37:g.49831413A>T				RNA	SNP	-	NULL	ENST00000527477.1	37	NULL		11																																																																																			RP11-707M1.1	-	-	ENSG00000205035		0.448	RP11-707M1.1-003	KNOWN	basic	processed_transcript	LOC440040	Clone_based_vega_gene	pseudogene	OTTHUMT00000391378.2	-	0.00	298	0	A			49831413	+1	tier1	-	no_errors	ENST00000527477	ensembl	human	known	74_37	rna	18.48	150	34	SNP	0.998	T
LZTS2	84445	genome.wustl.edu	37	10	102763415	102763417	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	CCT	CCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr10:102763415_102763417delCCT	ENST00000370220.1	+	2	3623_3625	c.560_562delCCT	c.(559-564)gcctcc>gcc	p.S197del	LZTS2_ENST00000370223.3_In_Frame_Del_p.S197del					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GGGGGCCCTGcctcctcctcctc	0.65																																					Esophageal Squamous(8;38 437 13604 19902 37640)												0										12,4252		3,6,2123						5.3	1.0			94	17,8235		4,9,4113	no	coding	LZTS2	NM_032429.2		7,15,6236	A1A1,A1R,RR		0.206,0.2814,0.2317				29,12487				SO:0001651	inframe_deletion	0			AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.560_562delCCT	10.37:g.102763424_102763426delCCT	ENSP00000359240:p.Ser197del			In_Frame_Del	DEL	NULL	p.S191in_frame_del	ENST00000370220.1	37	c.560_562	CCDS7507.1	10																																																																																			LZTS2	-	NULL	ENSG00000107816		0.650	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LZTS2	HGNC	protein_coding	OTTHUMT00000049872.1		0.00	32	0	CCT	XM_046743		102763417	+1	tier1		no_errors	ENST00000370220	ensembl	human	known	74_37	in_frame_del	16.67	10	2	DEL	0.994:0.989:1.000	-
MALAT1	378938	genome.wustl.edu	37	11	65273569	65273569	+	lincRNA	SNP	A	A	T	rs11367099	byFrequency	TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr11:65273569A>T	ENST00000534336.1	+	0	8337					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TTTCTAGCTTAAAAAAAAAAA	0.413																																																	0													44.0	42.0	43.0					11																	65273569		874	1988	2862			0			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65273569A>T				RNA	SNP	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-	ENSG00000251562		0.413	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1		0.00	25	0	A	NR_002819		65273569	+1			no_errors	ENST00000534336	ensembl	human	known	74_37	rna	21.05	10	4	SNP	0.002	T
MANEA	79694	genome.wustl.edu	37	6	96034899	96034899	+	Intron	SNP	A	A	G			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr6:96034899A>G	ENST00000358812.4	+	2	678				MANEA_ENST00000369293.1_Missense_Mutation_p.Y195C	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha						cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		ttgtgtctgtatatatgcata	0.284																																																	0													14.0	16.0	15.0					6																	96034899		1655	3156	4811	SO:0001627	intron_variant	0			AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.544+40A>G	6.37:g.96034899A>G			A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Missense_Mutation	SNP	NULL	p.Y195C	ENST00000358812.4	37	c.584	CCDS5032.1	6	.	.	.	.	.	.	.	.	.	.	A	8.744	0.919749	0.17982	.	.	ENSG00000172469	ENST00000369293	.	.	.	3.77	-7.24	0.01475	.	.	.	.	.	T	0.15782	0.0380	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36817	-0.9732	5	0.41790	T	0.15	.	9.0004	0.36079	0.2523:0.146:0.6018:0.0	.	.	.	.	C	195	.	ENSP00000358299:Y195C	Y	+	2	0	MANEA	96141620	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.664000	0.05292	-1.598000	0.01607	-0.451000	0.05528	TAT	MANEA	-	NULL	ENSG00000172469		0.284	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MANEA	HGNC	protein_coding	OTTHUMT00000043644.1	-	0.00	94	0	A	NM_024641		96034899	+1	tier1	-	no_errors	ENST00000369293	ensembl	human	known	74_37	missense	27.78	26	10	SNP	0.000	G
MAPKAP1	79109	genome.wustl.edu	37	9	128327795	128327795	+	Intron	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr9:128327795C>T	ENST00000373498.1	-	5	740				MAPKAP1_ENST00000373503.3_Intron|RP11-12A16.3_ENST00000437097.1_RNA|MAPKAP1_ENST00000350766.3_Intron|MAPKAP1_ENST00000394060.3_Intron|MAPKAP1_ENST00000265960.3_Intron|MAPKAP1_ENST00000373497.5_Intron|MAPKAP1_ENST00000394063.1_Intron|MAPKAP1_ENST00000373511.2_Intron			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1						epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						ATTACTTGGGCTTTGGTGTTT	0.323																																																	0																																										SO:0001627	intron_variant	0			M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"""stress-activated protein kinase-interacting 1"""	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.672-5707G>A	9.37:g.128327795C>T			A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	RNA	SNP	-	NULL	ENST00000373498.1	37	NULL	CCDS35140.1	9																																																																																			MAPKAP1	-	-	ENSG00000119487		0.323	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	MAPKAP1	HGNC	protein_coding	OTTHUMT00000054092.1	-	0.00	58	0	C			128327795	-1	tier1	-	no_errors	ENST00000448439	ensembl	human	known	74_37	rna	63.33	11	19	SNP	0.000	T
MGAT5B	146664	genome.wustl.edu	37	17	74898723	74898723	+	Missense_Mutation	SNP	T	T	C			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr17:74898723T>C	ENST00000569840.2	+	4	990	c.416T>C	c.(415-417)cTg>cCg	p.L139P	MGAT5B_ENST00000428789.2_Missense_Mutation_p.L150P|MGAT5B_ENST00000301618.4_Missense_Mutation_p.L139P|MGAT5B_ENST00000374998.3_3'UTR	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	139					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GACCAGATCCTGCGCCACAGT	0.652																																																	0													25.0	21.0	22.0					17																	74898723		2201	4300	6501	SO:0001583	missense	0			AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.416T>C	17.37:g.74898723T>C	ENSP00000456037:p.Leu139Pro		Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	superfamily_PyrdxlP-dep_Trfase	p.L150P	ENST00000569840.2	37	c.449	CCDS59299.1	17	.	.	.	.	.	.	.	.	.	.	T	23.1	4.378452	0.82682	.	.	ENSG00000167889	ENST00000374998;ENST00000301618;ENST00000428789	T;T	0.56275	0.48;0.47	5.28	5.28	0.74379	.	0.000000	0.64402	D	0.000007	T	0.67088	0.2856	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.70008	-0.4990	10	0.72032	D	0.01	-17.2704	14.3788	0.66897	0.0:0.0:0.0:1.0	.	150;139	Q3V5L5-2;Q3V5L5-5	.;.	P	139;139;150	ENSP00000301618:L139P;ENSP00000391227:L150P	ENSP00000301618:L139P	L	+	2	0	MGAT5B	72410318	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.703000	0.74633	1.985000	0.57927	0.533000	0.62120	CTG	MGAT5B	-	NULL	ENSG00000167889		0.652	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGAT5B	HGNC	protein_coding	OTTHUMT00000460624.2	-	0.00	96	0	T	NM_144677		74898723	+1	tier1	-	no_errors	ENST00000428789	ensembl	human	known	74_37	missense	19.05	51	12	SNP	1.000	C
MICAL1	64780	genome.wustl.edu	37	6	109769427	109769428	+	Frame_Shift_Ins	INS	-	-	C			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr6:109769427_109769428insC	ENST00000358807.3	-	13	2144_2145	c.1833_1834insG	c.(1831-1836)ttcaagfs	p.K612fs	MICAL1_ENST00000358577.3_Frame_Shift_Ins_p.K526fs|MICAL1_ENST00000368952.4_Frame_Shift_Ins_p.K631fs	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	612					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GCCATGCTCTTGAAGGCACTGT	0.599																																																	0																																										SO:0001589	frameshift_variant	0			AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.1833_1834insG	6.37:g.109769427_109769428insC	ENSP00000351664:p.Lys612fs		B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Frame_Shift_Ins	INS	pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.K630fs	ENST00000358807.3	37	c.1891_1890	CCDS5076.1	6																																																																																			MICAL1	-	superfamily_CH-domain	ENSG00000135596		0.599	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL1	HGNC	protein_coding	OTTHUMT00000041759.2		0.00	60	0	-	NM_022765		109769428	-1	tier1		no_errors	ENST00000368952	ensembl	human	known	74_37	frame_shift_ins	10.00	18	2	INS	0.947:1.000	C
MRPS31	10240	genome.wustl.edu	37	13	41333214	41333214	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr13:41333214C>T	ENST00000323563.6	-	3	505	c.469G>A	c.(469-471)Gca>Aca	p.A157T		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	157						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		GATGCAGCTGCCACCAACTCA	0.483																																																	0													45.0	45.0	45.0					13																	41333214		2203	4300	6503	SO:0001583	missense	0			Z68747	CCDS9372.1	13q14.11	2012-09-13			ENSG00000102738	ENSG00000102738		"""Mitochondrial ribosomal proteins / small subunits"""	16632	protein-coding gene	gene with protein product		611992				11279123, 8567980	Standard	NM_005830		Approved	IMOGN38	uc001uxm.4	Q92665	OTTHUMG00000016777	ENST00000323563.6:c.469G>A	13.37:g.41333214C>T	ENSP00000315397:p.Ala157Thr		B2RCS3|Q5VYC8|Q8WTV8	Missense_Mutation	SNP	NULL	p.A157T	ENST00000323563.6	37	c.469	CCDS9372.1	13	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173034	0.57584	.	.	ENSG00000102738	ENST00000323563	T	0.32023	1.47	4.88	4.0	0.46444	.	0.156720	0.56097	D	0.000031	T	0.45478	0.1344	L	0.54323	1.7	0.38184	D	0.939715	D	0.89917	1.0	D	0.77004	0.989	T	0.40440	-0.9563	10	0.23891	T	0.37	.	10.4316	0.44411	0.1955:0.8045:0.0:0.0	.	157	Q92665	RT31_HUMAN	T	157	ENSP00000315397:A157T	ENSP00000315397:A157T	A	-	1	0	MRPS31	40231214	1.000000	0.71417	0.899000	0.35326	0.621000	0.37620	1.508000	0.35769	1.087000	0.41251	0.557000	0.71058	GCA	MRPS31	-	NULL	ENSG00000102738		0.483	MRPS31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS31	HGNC	protein_coding	OTTHUMT00000044640.2		0.00	13	0	C			41333214	-1			no_errors	ENST00000323563	ensembl	human	known	74_37	missense	22.22	7	2	SNP	0.999	T
MRVI1	10335	genome.wustl.edu	37	11	10598061	10598061	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr11:10598061G>T	ENST00000436272.1	-	20	2554	c.2476C>A	c.(2476-2478)Caa>Aaa	p.Q826K	MRVI1_ENST00000421747.1_Missense_Mutation_p.Q844K|MRVI1_ENST00000527509.2_Missense_Mutation_p.Q762K|MRVI1_ENST00000531107.1_Missense_Mutation_p.Q845K|MRVI1_ENST00000423302.2_Missense_Mutation_p.Q853K|MRVI1_ENST00000552103.1_Missense_Mutation_p.Q762K|MRVI1_ENST00000541483.1_Missense_Mutation_p.Q647K|MRVI1_ENST00000534266.2_Missense_Mutation_p.Q538K|MRVI1_ENST00000558540.1_Missense_Mutation_p.Q538K|MRVI1_ENST00000547195.1_Missense_Mutation_p.Q762K|MRVI1-AS1_ENST00000529829.1_RNA|LYVE1_ENST00000531706.1_Intron|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000545852.1_Missense_Mutation_p.Q538K|MRVI1_ENST00000424001.1_Missense_Mutation_p.Q538K			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	826					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CAGATCACTTGCCAGTGCTGA	0.448																																																	0													126.0	126.0	126.0					11																	10598061		2092	4235	6327	SO:0001583	missense	0			AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.2476C>A	11.37:g.10598061G>T	ENSP00000412229:p.Gln826Lys		B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	pfam_MRVI1	p.Q844K	ENST00000436272.1	37	c.2530		11	.	.	.	.	.	.	.	.	.	.	G	14.38	2.518117	0.44763	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T;T;T	0.12569	2.67;2.67;2.67;2.67;2.67;2.67;2.67;2.67;2.67;2.67	5.82	3.78	0.43462	.	0.549693	0.19718	N	0.107653	T	0.11024	0.0269	L	0.36672	1.1	0.29517	N	0.853773	B;B;B;B	0.16802	0.015;0.019;0.019;0.015	B;B;B;B	0.18871	0.008;0.023;0.023;0.013	T	0.14476	-1.0471	10	0.15952	T	0.53	-0.0517	12.0589	0.53550	0.0:0.0:0.4357:0.5643	.	647;826;845;844	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	K	844;827;826;762;762;538;538;853;647;845;762	ENSP00000414598:Q844K;ENSP00000412229:Q826K;ENSP00000448278:Q762K;ENSP00000446764:Q762K;ENSP00000441971:Q538K;ENSP00000401205:Q538K;ENSP00000412130:Q853K;ENSP00000437784:Q647K;ENSP00000432436:Q845K;ENSP00000432067:Q762K	ENSP00000307885:Q827K	Q	-	1	0	MRVI1	10554637	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.488000	0.53229	1.432000	0.47375	0.655000	0.94253	CAA	MRVI1	-	pfam_MRVI1	ENSG00000072952		0.448	MRVI1-203	KNOWN	basic	protein_coding	MRVI1	HGNC	protein_coding			0.00	48	0	G	NM_001098579		10598061	-1			no_errors	ENST00000421747	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	T
MUC17	140453	genome.wustl.edu	37	7	100685536	100685536	+	Missense_Mutation	SNP	C	C	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr7:100685536C>A	ENST00000306151.4	+	3	10903	c.10839C>A	c.(10837-10839)agC>agA	p.S3613R		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3613	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTACTCAGAGCAATTCTACTC	0.488																																																	0													147.0	139.0	142.0					7																	100685536		2203	4300	6503	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10839C>A	7.37:g.100685536C>A	ENSP00000302716:p.Ser3613Arg		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.S3613R	ENST00000306151.4	37	c.10839	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	c	5.457	0.269454	0.10349	.	.	ENSG00000169876	ENST00000306151	T	0.02301	4.35	1.78	-0.869	0.10649	.	.	.	.	.	T	0.01905	0.0060	N	0.08118	0	0.09310	N	1	P	0.39940	0.696	P	0.51487	0.671	T	0.47005	-0.9150	9	0.15499	T	0.54	.	3.1402	0.06453	0.0:0.4347:0.224:0.3413	.	3613	Q685J3	MUC17_HUMAN	R	3613	ENSP00000302716:S3613R	ENSP00000302716:S3613R	S	+	3	2	MUC17	100472256	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.786000	0.01766	-0.010000	0.14271	-1.101000	0.02118	AGC	MUC17	-	NULL	ENSG00000169876		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	-	0.00	60	0	C	NM_001040105		100685536	+1	tier1	-	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	57.83	35	48	SNP	0.000	A
MYBPC2	4606	genome.wustl.edu	37	19	50939968	50939968	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:50939968G>T	ENST00000357701.5	+	5	491	c.440G>T	c.(439-441)tGt>tTt	p.C147F		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	147	Ig-like C2-type 1.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TGTGACAGCTGTGGCTTCAAC	0.587																																																	0													96.0	95.0	95.0					19																	50939968		2053	4192	6245	SO:0001583	missense	0				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.440G>T	19.37:g.50939968G>T	ENSP00000350332:p.Cys147Phe		A1L4G9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.C147F	ENST00000357701.5	37	c.440	CCDS46152.1	19	.	.	.	.	.	.	.	.	.	.	.	14.09	2.433135	0.43224	.	.	ENSG00000086967	ENST00000357701	T	0.67345	-0.26	3.24	3.24	0.37175	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.204750	0.21639	U	0.071375	T	0.78039	0.4221	M	0.79011	2.435	0.50632	D	0.999887	D	0.54397	0.966	P	0.59948	0.866	T	0.78420	-0.2211	10	0.35671	T	0.21	.	14.4405	0.67314	0.0:0.0:1.0:0.0	.	147	Q14324	MYPC2_HUMAN	F	147	ENSP00000350332:C147F	ENSP00000350332:C147F	C	+	2	0	MYBPC2	55631780	1.000000	0.71417	0.890000	0.34922	0.535000	0.34838	6.641000	0.74324	2.142000	0.66516	0.450000	0.29827	TGT	MYBPC2	-	pfam_Ig_I-set,smart_Ig_sub	ENSG00000086967		0.587	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPC2	HGNC	protein_coding	OTTHUMT00000464751.1	-	0.00	81	0	G	NM_004533		50939968	+1	tier1	-	no_errors	ENST00000357701	ensembl	human	known	74_37	missense	13.64	38	6	SNP	1.000	T
MYH1	4619	genome.wustl.edu	37	17	10399868	10399868	+	Splice_Site	DEL	T	T	-			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr17:10399868delT	ENST00000226207.5	-	34	4751		c.e34-2		RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult						muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AAGAGATGCCTTAATGACAGC	0.363																																																	0													77.0	78.0	78.0					17																	10399868		2202	4300	6502	SO:0001630	splice_region_variant	0				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4657-2A>-	17.37:g.10399868delT			Q14CA4|Q9Y622	Splice_Site	DEL	-	e32-2	ENST00000226207.5	37	c.4657-2	CCDS11155.1	17																																																																																			MYH1	-	-	ENSG00000109061		0.363	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1		0.00	58	0	T	NM_005963	Intron	10399868	-1	tier1		no_errors	ENST00000226207	ensembl	human	known	74_37	splice_site_del	11.76	15	2	DEL	0.999	-
MYH2	4620	genome.wustl.edu	37	17	10435052	10435052	+	Missense_Mutation	SNP	A	A	C			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr17:10435052A>C	ENST00000245503.5	-	22	2979	c.2595T>G	c.(2593-2595)atT>atG	p.I865M	RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.I865M|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	865					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.?(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GTTCGTCTTTAATTTTCTGAA	0.433																																																	1	Unknown(1)	skin(1)											129.0	126.0	127.0					17																	10435052		2203	4300	6503	SO:0001583	missense	0				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2595T>G	17.37:g.10435052A>C	ENSP00000245503:p.Ile865Met		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.I865M	ENST00000245503.5	37	c.2595	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	A	11.86	1.764397	0.31228	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.93426	-3.22;-3.22	4.71	-3.3	0.05003	.	0.405950	0.17657	U	0.166466	T	0.78923	0.4360	N	0.03281	-0.365	0.09310	N	0.999992	B	0.23128	0.08	B	0.33521	0.165	T	0.70920	-0.4741	10	0.22706	T	0.39	.	1.8737	0.03214	0.2814:0.1035:0.4062:0.2089	.	865	Q9UKX2	MYH2_HUMAN	M	865	ENSP00000245503:I865M;ENSP00000380367:I865M	ENSP00000245503:I865M	I	-	3	3	MYH2	10375777	0.000000	0.05858	0.962000	0.40283	0.943000	0.58893	-0.730000	0.04915	-0.374000	0.07967	0.459000	0.35465	ATT	MYH2	-	NULL	ENSG00000125414		0.433	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3		0.00	107	0	A	NM_017534		10435052	-1			no_errors	ENST00000245503	ensembl	human	known	74_37	missense	8.33	33	3	SNP	0.930	C
MYO18B	84700	genome.wustl.edu	37	22	26164791	26164791	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr22:26164791G>T	ENST00000407587.2	+	4	1077	c.908G>T	c.(907-909)gGg>gTg	p.G303V	MYO18B_ENST00000335473.7_Missense_Mutation_p.G303V|MYO18B_ENST00000536101.1_Missense_Mutation_p.G303V			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	303						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AAGGACGTAGGGAGTGAAGGG	0.587																																																	0													25.0	28.0	27.0					22																	26164791		1991	4154	6145	SO:0001583	missense	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.908G>T	22.37:g.26164791G>T	ENSP00000386096:p.Gly303Val		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.G303V	ENST00000407587.2	37	c.908		22	.	.	.	.	.	.	.	.	.	.	g	14.45	2.539359	0.45176	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.89681	-2.53;-2.53;-2.55	4.51	-1.87	0.07737	.	0.467488	0.16044	N	0.232282	T	0.76863	0.4047	L	0.29908	0.895	0.19300	N	0.999972	B;B;B	0.19331	0.02;0.035;0.035	B;B;B	0.16289	0.007;0.015;0.015	T	0.65344	-0.6191	10	0.87932	D	0	.	2.1002	0.03678	0.1279:0.1434:0.362:0.3666	.	303;303;303	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	V	303	ENSP00000441229:G303V;ENSP00000334563:G303V;ENSP00000386096:G303V	ENSP00000334563:G303V	G	+	2	0	MYO18B	24494791	0.030000	0.19436	0.001000	0.08648	0.090000	0.18270	-0.004000	0.12878	0.083000	0.17047	0.306000	0.20318	GGG	MYO18B	-	NULL	ENSG00000133454		0.587	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	-	0.00	165	0	G	NM_032608		26164791	+1	tier1	-	no_errors	ENST00000335473	ensembl	human	known	74_37	missense	23.73	45	14	SNP	0.000	T
NAV1	89796	genome.wustl.edu	37	1	201762966	201762966	+	Frame_Shift_Del	DEL	C	C	-			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:201762966delC	ENST00000367296.4	+	14	3788	c.3368delC	c.(3367-3369)tccfs	p.S1123fs	NAV1_ENST00000367302.1_Frame_Shift_Del_p.S1079fs|NAV1_ENST00000367295.1_Frame_Shift_Del_p.S732fs|NAV1_ENST00000469130.1_3'UTR|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Frame_Shift_Del_p.S1066fs|NAV1_ENST00000367297.4_Frame_Shift_Del_p.S1115fs|NAV1_ENST00000295624.6_Frame_Shift_Del_p.S1123fs	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1123					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AATATGACATCCCGCCTGCGA	0.577																																																	0													75.0	69.0	71.0					1																	201762966		2203	4300	6503	SO:0001589	frameshift_variant	0			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.3368delC	1.37:g.201762966delC	ENSP00000356265:p.Ser1123fs		A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Frame_Shift_Del	DEL	superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R1124fs	ENST00000367296.4	37	c.3368	CCDS1414.2	1																																																																																			NAV1	-	NULL	ENSG00000134369		0.577	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1		0.00	33	0	C	NM_020443		201762966	+1	tier1		no_errors	ENST00000367296	ensembl	human	known	74_37	frame_shift_del	20.00	12	3	DEL	0.824	-
NBEAL1	65065	genome.wustl.edu	37	2	203975005	203975006	+	Splice_Site	DNP	GG	GG	CA	rs568361667		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr2:203975005_203975006GG>CA	ENST00000449802.1	+	14	2328	c.1995_1995GG>CA	c.(1993-1995)tgGG>tgCAg	p.W665C		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	665										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ATTCCCTCTGGGTAAGGCTTTA	0.386																																																	0																																										SO:0001630	splice_region_variant	0			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	Exception_encountered	2.37:g.203975005_203975006delinsCA			A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation|Splice_Site	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom|-	p.W665C|e13+1	ENST00000449802.1	37	c.1995|c.1995+1	CCDS46495.1	2																																																																																			NBEAL1	-	superfamily_ConA-like_lec_gl_sf|-	ENSG00000144426		0.386	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4		0.00	47|46	0	G		Missense_Mutation	203975005|203975006	+1			no_errors	ENST00000449802	ensembl	human	known	74_37	missense|splice_site	11.11|10.87	40|41	5	SNP	1.000	C|A
NBPF6	653149	genome.wustl.edu	37	1	109008025	109008025	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:109008025G>T	ENST00000444143.2	+	13	1857	c.1639G>T	c.(1639-1641)Ggg>Tgg	p.G547W	NBPF6_ENST00000495380.2_Missense_Mutation_p.G547W|NBPF6_ENST00000370040.3_Missense_Mutation_p.G576W|NBPF6_ENST00000294652.8_3'UTR			Q5VWK0	NBPF6_HUMAN	neuroblastoma breakpoint family, member 6	547						cytoplasm (GO:0005737)				endometrium(2)	2						TGCTGATTCTGGGAACCAATG	0.577																																																	0													1.0	2.0	2.0					1																	109008025		288	817	1105	SO:0001583	missense	0				CCDS44184.1	1p13.3	2013-01-17				ENSG00000186086		"""neuroblastoma breakpoint family"""	31988	protein-coding gene	gene with protein product		613996				16079250	Standard	NM_001143987		Approved		uc009wep.3	Q5VWK0	OTTHUMG00000039830	ENST00000444143.2:c.1639G>T	1.37:g.109008025G>T	ENSP00000402703:p.Gly547Trp		A4QN25	Missense_Mutation	SNP	pfam_NBPF_dom	p.G576W	ENST00000444143.2	37	c.1726	CCDS44184.1	1	.	.	.	.	.	.	.	.	.	.	g	10.06	1.246281	0.22796	.	.	ENSG00000186086	ENST00000444143;ENST00000370040;ENST00000495380	T;T;T	0.03860	3.85;3.78;3.85	1.06	-1.31	0.09230	.	.	.	.	.	T	0.05273	0.0140	L	0.55990	1.75	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.979	T	0.22836	-1.0205	9	0.87932	D	0	.	4.1315	0.10151	0.4677:0.0:0.5323:0.0	.	547;576	Q5VWK0;E9PDL3	NBPF6_HUMAN;.	W	547;576;547	ENSP00000402703:G547W;ENSP00000359057:G576W;ENSP00000417277:G547W	ENSP00000359057:G576W	G	+	1	0	NBPF6	108809548	0.002000	0.14202	0.001000	0.08648	0.022000	0.10575	0.619000	0.24388	-0.444000	0.07170	0.281000	0.19383	GGG	NBPF6	-	NULL	ENSG00000186086		0.577	NBPF6-203	KNOWN	basic|CCDS	protein_coding	NBPF6	HGNC	protein_coding	OTTHUMT00000276886.3	-	0.00	45	0	G	XM_926213		109008025	+1	tier1	-	no_errors	ENST00000370040	ensembl	human	known	74_37	missense	55.56	12	15	SNP	0.001	T
NCAPD2	9918	genome.wustl.edu	37	12	6637976	6637976	+	Missense_Mutation	SNP	A	A	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:6637976A>T	ENST00000315579.5	+	26	4230	c.3431A>T	c.(3430-3432)cAg>cTg	p.Q1144L	NCAPD2_ENST00000545962.1_Missense_Mutation_p.Q1099L	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1144					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CCCGAGCCTCAGATTGCTGCC	0.597																																																	0													69.0	66.0	67.0					12																	6637976		2203	4300	6503	SO:0001583	missense	0			D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.3431A>T	12.37:g.6637976A>T	ENSP00000325017:p.Gln1144Leu		D3DUR4|Q8N6U3	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	p.Q1144L	ENST00000315579.5	37	c.3431	CCDS8548.1	12	.	.	.	.	.	.	.	.	.	.	A	14.64	2.594935	0.46318	.	.	ENSG00000010292	ENST00000315579;ENST00000545962	T;T	0.11821	2.74;2.74	5.43	2.96	0.34315	Armadillo-like helical (1);Armadillo-type fold (1);	0.491952	0.23791	N	0.044525	T	0.11324	0.0276	N	0.24115	0.695	0.30566	N	0.763955	B;B	0.26081	0.141;0.074	B;B	0.29942	0.066;0.109	T	0.06534	-1.0821	10	0.56958	D	0.05	-3.4486	13.4883	0.61379	0.58:0.42:0.0:0.0	.	1099;1144	F5GZJ1;Q15021	.;CND1_HUMAN	L	1144;1099	ENSP00000325017:Q1144L;ENSP00000444417:Q1099L	ENSP00000325017:Q1144L	Q	+	2	0	NCAPD2	6508237	1.000000	0.71417	0.332000	0.25469	0.977000	0.68977	3.145000	0.50623	0.439000	0.26476	0.533000	0.62120	CAG	NCAPD2	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	ENSG00000010292		0.597	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD2	HGNC	protein_coding	OTTHUMT00000399964.1		0.00	63	0	A	NM_014865		6637976	+1			no_errors	ENST00000315579	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.994	T
NDUFAF5	79133	genome.wustl.edu	37	20	13765855	13765855	+	Silent	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr20:13765855C>T	ENST00000378106.5	+	1	260	c.141C>T	c.(139-141)ttC>ttT	p.F47F	NDUFAF5_ENST00000463598.1_Silent_p.F47F|NDUFAF5_ENST00000475968.1_3'UTR|ESF1_ENST00000202816.1_5'Flank	NM_024120.4	NP_077025.2	Q5TEU4	NDUF5_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 5	47					mitochondrial respiratory chain complex I assembly (GO:0032981)	extrinsic component of mitochondrial inner membrane (GO:0031314)	methyltransferase activity (GO:0008168)										TGAATATTTTCGACCGGGATT	0.617																																																	0													22.0	26.0	25.0					20																	13765855		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13118.1, CCDS33441.1	20p12.1	2012-10-12	2012-05-08	2012-05-08	ENSG00000101247	ENSG00000101247		"""Mitochondrial respiratory chain complex assembly factors"""	15899	protein-coding gene	gene with protein product		612360	"""chromosome 20 open reading frame 7"""	C20orf7		18940309, 21607760	Standard	NM_024120		Approved	dJ842G6.1	uc002wom.3	Q5TEU4	OTTHUMG00000031909	ENST00000378106.5:c.141C>T	20.37:g.13765855C>T			A8K166|Q6GPH3|Q9H6F4	Silent	SNP	pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Put_SAM_MeTrfase	p.F47	ENST00000378106.5	37	c.141	CCDS13118.1	20																																																																																			NDUFAF5	-	NULL	ENSG00000101247		0.617	NDUFAF5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFAF5	HGNC	protein_coding	OTTHUMT00000078057.2	-	0.00	154	0	C	NM_001039375		13765855	+1	tier1	-	no_errors	ENST00000378106	ensembl	human	known	74_37	silent	7.29	89	7	SNP	1.000	T
NEIL3	55247	genome.wustl.edu	37	4	178274833	178274833	+	Missense_Mutation	SNP	C	C	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr4:178274833C>A	ENST00000264596.3	+	8	1529	c.1411C>A	c.(1411-1413)Caa>Aaa	p.Q471K	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	471			Q -> H (in dbSNP:rs13112390). {ECO:0000269|PubMed:12200441, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.		base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		GAAAACAGCCCAATACTCATC	0.333								Base excision repair (BER), DNA glycosylases																																									0													71.0	71.0	71.0					4																	178274833		2203	4300	6503	SO:0001583	missense	0			AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 3"""	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.1411C>A	4.37:g.178274833C>A	ENSP00000264596:p.Gln471Lys		Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	pfam_Znf_GRF,pfam_DNA_glyclase/AP_lyase_DNA-bd,pfam_Znf_RanBP2,superfamily_Ribosomal_S13-like_H2TH,superfamily_DNA_glycosylase/AP_lyase_cat,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_Znf_DNA_glyclase/AP_lyase,pfscan_DNA_glycosylase/AP_lyase_cat	p.Q471K	ENST00000264596.3	37	c.1411	CCDS3828.1	4	.	.	.	.	.	.	.	.	.	.	C	0.297	-0.976313	0.02215	.	.	ENSG00000109674	ENST00000264596	T	0.03745	3.82	5.09	5.09	0.68999	.	0.221814	0.46442	D	0.000290	T	0.02848	0.0085	N	0.08118	0	0.18873	N	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.46679	-0.9174	10	0.39692	T	0.17	-1.0524	16.0366	0.80635	0.0:1.0:0.0:0.0	.	471	Q8TAT5	NEIL3_HUMAN	K	471	ENSP00000264596:Q471K	ENSP00000264596:Q471K	Q	+	1	0	NEIL3	178511827	1.000000	0.71417	0.542000	0.28115	0.069000	0.16628	2.698000	0.47068	2.663000	0.90544	0.557000	0.71058	CAA	NEIL3	-	NULL	ENSG00000109674		0.333	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEIL3	HGNC	protein_coding	OTTHUMT00000361914.1	-	0.00	69	0	C	NM_018248		178274833	+1	tier1	-	no_errors	ENST00000264596	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.936	A
NFRKB	4798	genome.wustl.edu	37	11	129739725	129739725	+	Silent	SNP	G	G	A	rs145603126		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr11:129739725G>A	ENST00000446488.3	-	23	3298	c.3195C>T	c.(3193-3195)ggC>ggT	p.G1065G	NFRKB_ENST00000524746.1_Silent_p.G1065G|NFRKB_ENST00000304521.5_Silent_p.G1065G|NFRKB_ENST00000524794.1_Silent_p.G1090G	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1065					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CCACACTCACGCCAAGAGCTG	0.547																																																	0								G	,	0,4402		0,0,2201	81.0	75.0	77.0		3195,3270	-3.1	0.9	11	dbSNP_134	77	2,8592	2.2+/-6.3	0,2,4295	no	coding-synonymous,coding-synonymous	NFRKB	NM_001143835.1,NM_006165.3	,	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	,	1065/1300,1090/1325	129739725	2,12994	2201	4297	6498	SO:0001819	synonymous_variant	0				CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.3195C>T	11.37:g.129739725G>A			Q12869|Q15312|Q9H048	Silent	SNP	NULL	p.G1090	ENST00000446488.3	37	c.3270	CCDS44770.1	11																																																																																			NFRKB	-	NULL	ENSG00000170322		0.547	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFRKB	HGNC	protein_coding	OTTHUMT00000386063.2		0.00	27	0	G	NM_006165		129739725	-1			no_errors	ENST00000524794	ensembl	human	known	74_37	silent	15.38	11	2	SNP	0.906	A
NFU1	27247	genome.wustl.edu	37	2	69623356	69623356	+	3'UTR	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr2:69623356C>T	ENST00000410022.2	-	0	992				NFU1_ENST00000394305.1_3'UTR|NFU1_ENST00000462320.1_3'UTR|NFU1_ENST00000303698.3_3'UTR|NFU1_ENST00000471185.1_5'UTR	NM_001002755.2	NP_001002755.1	Q9UMS0	NFU1_HUMAN	NFU1 iron-sulfur cluster scaffold						iron-sulfur cluster assembly (GO:0016226)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron ion binding (GO:0005506)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						GACTGTTATGCCCAAAGAAAA	0.269																																																	0													87.0	85.0	86.0					2																	69623356		2203	4297	6500	SO:0001624	3_prime_UTR_variant	0			AJ132584	CCDS33217.1, CCDS42694.1, CCDS46315.1	2p15-p13	2014-07-03	2014-07-03	2006-10-24	ENSG00000169599	ENSG00000169599			16287	protein-coding gene	gene with protein product		608100	"""HIRA interacting protein 5"", ""NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)"""	HIRIP5		11342215, 12886008	Standard	NR_045631		Approved	CGI-33, NifU, NIFUC	uc002sfk.3	Q9UMS0	OTTHUMG00000152668	ENST00000410022.2:c.*22G>A	2.37:g.69623356C>T			B4DUL9|Q53QE5|Q6VNZ8|Q7Z5B1|Q7Z5B2|Q9Y322	RNA	SNP	-	NULL	ENST00000410022.2	37	NULL	CCDS33217.1	2																																																																																			NFU1	-	-	ENSG00000169599		0.269	NFU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFU1	HGNC	protein_coding	OTTHUMT00000327279.3	-	0.00	49	0	C	NM_015700		69623356	-1	tier1	-	no_errors	ENST00000471185	ensembl	human	known	74_37	rna	10.00	36	4	SNP	0.191	T
NKPD1	284353	genome.wustl.edu	37	19	45656613	45656613	+	Nonsense_Mutation	SNP	G	G	C			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:45656613G>C	ENST00000438936.2	-	3	627	c.416C>G	c.(415-417)tCa>tGa	p.S139*	AC005757.7_ENST00000589594.1_lincRNA|NKPD1_ENST00000317951.4_Nonsense_Mutation_p.S361*|NKPD1_ENST00000589776.1_Nonsense_Mutation_p.S139*|NKPD1_ENST00000429338.1_Nonsense_Mutation_p.S139*			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	139	KAP NTPase.					integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		GCCGCCCAGTGACAAGTAGAG	0.726																																																	0													4.0	5.0	5.0					19																	45656613		1932	3986	5918	SO:0001587	stop_gained	0			AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.416C>G	19.37:g.45656613G>C	ENSP00000401739:p.Ser139*		B7ZLG6|D6RH15|Q8N2A2	Nonsense_Mutation	SNP	pfam_KAP_NTPase	p.S361*	ENST00000438936.2	37	c.1082		19	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381537	0.61845	.	.	ENSG00000179846	ENST00000317951;ENST00000438936;ENST00000429338	.	.	.	5.09	5.09	0.68999	.	0.228736	0.38111	N	0.001802	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-15.9155	13.9701	0.64235	0.0:0.0:1.0:0.0	.	.	.	.	X	361;139;139	.	ENSP00000321976:S361X	S	-	2	0	NKPD1	50348453	0.997000	0.39634	0.921000	0.36526	0.127000	0.20565	2.712000	0.47186	2.359000	0.80004	0.491000	0.48974	TCA	NKPD1	-	pfam_KAP_NTPase	ENSG00000179846		0.726	NKPD1-001	KNOWN	basic	protein_coding	NKPD1	HGNC	protein_coding	OTTHUMT00000360950.2	-	0.00	9	0	G	NM_198478		45656613	-1	tier1	-	no_errors	ENST00000317951	ensembl	human	known	74_37	nonsense	33.33	8	4	SNP	0.907	C
NOS1	4842	genome.wustl.edu	37	12	117672482	117672482	+	Silent	SNP	G	G	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:117672482G>A	ENST00000338101.4	-	21	3229	c.3225C>T	c.(3223-3225)ttC>ttT	p.F1075F	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Silent_p.F1041F			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GGTTGCCAGGGAAGACACCCA	0.612																																					Esophageal Squamous(162;1748 2599 51982 52956)												0													49.0	53.0	52.0					12																	117672482		2036	4187	6223	SO:0001819	synonymous_variant	0				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3225C>T	12.37:g.117672482G>A				Silent	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.F1041	ENST00000338101.4	37	c.3123	CCDS55890.1	12																																																																																			NOS1	-	pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase	ENSG00000089250		0.612	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	HGNC	protein_coding	OTTHUMT00000268053.1	-	0.00	59	0	G			117672482	-1	tier1	-	no_errors	ENST00000317775	ensembl	human	known	74_37	silent	20.00	32	8	SNP	1.000	A
NUDCD1	84955	genome.wustl.edu	37	8	110308631	110308631	+	Silent	SNP	G	G	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr8:110308631G>A	ENST00000239690.4	-	3	815	c.441C>T	c.(439-441)agC>agT	p.S147S	NUDCD1_ENST00000427660.2_Silent_p.S118S|RP11-122A21.2_ENST00000504175.2_RNA	NM_032869.3	NP_116258.2			NudC domain containing 1											breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			TTTCAGAAGCGCTATTTCCAC	0.383																																																	0													226.0	216.0	219.0					8																	110308631		2203	4300	6503	SO:0001819	synonymous_variant	0			AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.441C>T	8.37:g.110308631G>A				Silent	SNP	pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom	p.S147	ENST00000239690.4	37	c.441	CCDS6312.1	8																																																																																			NUDCD1	-	NULL	ENSG00000120526		0.383	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDCD1	HGNC	protein_coding	OTTHUMT00000380996.1		0.00	108	0	G	NM_032869		110308631	-1			no_errors	ENST00000239690	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.982	A
OGDHL	55753	genome.wustl.edu	37	10	50955146	50955146	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr10:50955146C>T	ENST00000374103.4	-	9	1181	c.1096G>A	c.(1096-1098)Gca>Aca	p.A366T	OGDHL_ENST00000419399.1_Missense_Mutation_p.A309T|OGDHL_ENST00000432695.1_Missense_Mutation_p.A157T	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	366					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGGTCCACTGCCTCCAGGTGG	0.597																																																	0													210.0	186.0	194.0					10																	50955146		2203	4300	6503	SO:0001583	missense	0			AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1096G>A	10.37:g.50955146C>T	ENSP00000363216:p.Ala366Thr		A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.A366T	ENST00000374103.4	37	c.1096	CCDS7234.1	10	.	.	.	.	.	.	.	.	.	.	C	36	5.835589	0.97003	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	T;T;T	0.13420	2.59;2.59;3.21	5.79	5.79	0.91817	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	T	0.42381	0.1200	M	0.77712	2.385	0.80722	D	1	D;D;D	0.71674	0.998;0.992;0.998	D;D;D	0.77557	0.966;0.939;0.99	T	0.19877	-1.0292	10	0.62326	D	0.03	.	20.0263	0.97523	0.0:1.0:0.0:0.0	.	309;157;366	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	T	366;309;157	ENSP00000363216:A366T;ENSP00000401356:A309T;ENSP00000390240:A157T	ENSP00000363216:A366T	A	-	1	0	OGDHL	50625152	1.000000	0.71417	0.999000	0.59377	0.938000	0.57974	7.574000	0.82434	2.735000	0.93741	0.655000	0.94253	GCA	OGDHL	-	pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	ENSG00000197444		0.597	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGDHL	HGNC	protein_coding	OTTHUMT00000048007.1		0.00	64	0	C	NM_018245		50955146	-1			no_errors	ENST00000374103	ensembl	human	known	74_37	missense	6.82	41	3	SNP	1.000	T
OLFM1	10439	genome.wustl.edu	37	9	137982066	137982067	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr9:137982066_137982067GC>TT	ENST00000371793.3	+	2	427_428	c.176_177GC>TT	c.(175-177)aGC>aTT	p.S59I	OLFM1_ENST00000392991.4_Missense_Mutation_p.S59I|OLFM1_ENST00000371796.3_Missense_Mutation_p.S32I|OLFM1_ENST00000252854.4_Missense_Mutation_p.S41I|OLFM1_ENST00000277415.11_Missense_Mutation_p.S41I	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	59					negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CCTGAGGAGAGCTGGCAGGTGT	0.609																																																	0																																										SO:0001583	missense	0			AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"""pancortin"""	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	Exception_encountered	9.37:g.137982066_137982067delinsTT	ENSP00000360858:p.Ser59Ile		Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation|Silent	SNP	pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like	p.S59I|p.S59	ENST00000371793.3	37	c.176|c.177		9																																																																																			OLFM1	-	pfam_Noelin-1	ENSG00000130558		0.609	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	OLFM1	HGNC	protein_coding	OTTHUMT00000054974.1	-	0.00	58	0	G|C	NM_014279		137982066|137982067	+1	tier1	-	no_errors	ENST00000371793	ensembl	human	known	74_37	missense|silent	56.25|58.06	14|13	18	SNP	1.000	T
OR11H1	81061	genome.wustl.edu	37	22	16449517	16449517	+	Missense_Mutation	SNP	C	C	T	rs201085735		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr22:16449517C>T	ENST00000252835.4	-	1	288	c.288G>A	c.(286-288)atG>atA	p.M96I		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		AGTTGACCAACATCTTGGGAA	0.408																																																	0																																										SO:0001583	missense	0			AP000535, AF399611	CCDS74807.1	22q11.1	2012-08-09			ENSG00000130538	ENSG00000130538		"""GPCR / Class A : Olfactory receptors"""	15404	protein-coding gene	gene with protein product						12213199	Standard	NM_001005239		Approved	OR22-1	uc011agd.2	Q8NG94	OTTHUMG00000030069	ENST00000252835.4:c.288G>A	22.37:g.16449517C>T	ENSP00000252835:p.Met96Ile		Q6IEX0|Q96R32	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M96I	ENST00000252835.4	37	c.288	CCDS33594.1	22	.	.	.	.	.	.	.	.	.	.	c	12.90	2.077068	0.36662	.	.	ENSG00000130538	ENST00000252835	T	0.05513	3.43	2.19	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.289165	0.23960	N	0.042866	T	0.13372	0.0324	M	0.81682	2.555	0.21915	N	0.999477	P	0.51537	0.946	P	0.47528	0.549	T	0.06789	-1.0807	10	0.56958	D	0.05	.	10.5732	0.45212	0.0:1.0:0.0:0.0	.	96	Q8NG94	O11H1_HUMAN	I	96	ENSP00000252835:M96I	ENSP00000252835:M96I	M	-	3	0	OR11H1	14829517	0.003000	0.15002	0.999000	0.59377	0.870000	0.49936	-0.153000	0.10144	1.175000	0.42826	0.368000	0.22195	ATG	OR11H1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000130538		0.408	OR11H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H1	HGNC	protein_coding	OTTHUMT00000074923.2	-	0.00	66	0	C	NM_001005239		16449517	-1	tier1	rs201085735	no_errors	ENST00000252835	ensembl	human	known	74_37	missense	12.82	34	5	SNP	0.922	T
OR2G2	81470	genome.wustl.edu	37	1	247752160	247752160	+	Silent	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:247752160C>T	ENST00000320065.1	+	1	499	c.499C>T	c.(499-501)Ctg>Ttg	p.L167L	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	167			L -> P (in dbSNP:rs10925085).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CACCCTCACCCTGCAGCTGCC	0.547																																																	0													189.0	173.0	178.0					1																	247752160		2203	4300	6503	SO:0001819	synonymous_variant	0			BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.499C>T	1.37:g.247752160C>T			Q5JQT2|Q6IEZ0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L167	ENST00000320065.1	37	c.499	CCDS31092.1	1																																																																																			OR2G2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000177489		0.547	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G2	HGNC	protein_coding	OTTHUMT00000097623.1	-	0.00	44	0	C			247752160	+1	tier1	-	no_errors	ENST00000320065	ensembl	human	known	74_37	silent	35.48	20	11	SNP	0.392	T
OR5AP2	338675	genome.wustl.edu	37	11	56409234	56409234	+	Missense_Mutation	SNP	A	A	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr11:56409234A>T	ENST00000302981.1	-	1	681	c.682T>A	c.(682-684)Ttc>Atc	p.F228I	OR5AP2_ENST00000544374.1_Missense_Mutation_p.F229I	NM_001002925.1	NP_001002925.1	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F228L(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						ACGGCAATGAAGATACACAGG	0.443																																																	1	Substitution - Missense(1)	kidney(1)											180.0	167.0	171.0					11																	56409234		2201	4296	6497	SO:0001583	missense	0			AB065854	CCDS31534.1	11q11	2012-08-09			ENSG00000172464	ENSG00000172464		"""GPCR / Class A : Olfactory receptors"""	15258	protein-coding gene	gene with protein product							Standard	NM_001002925		Approved		uc001njb.1	Q8NGF4	OTTHUMG00000166865	ENST00000302981.1:c.682T>A	11.37:g.56409234A>T	ENSP00000303111:p.Phe228Ile		B2RNM8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F229I	ENST00000302981.1	37	c.685	CCDS31534.1	11	.	.	.	.	.	.	.	.	.	.	A	6.459	0.452870	0.12283	.	.	ENSG00000172464	ENST00000544374;ENST00000302981	T;T	0.00123	8.7;8.7	5.09	3.19	0.36642	GPCR, rhodopsin-like superfamily (1);	0.318367	0.22837	N	0.055026	T	0.00073	0.0002	N	0.04705	-0.18	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.01762	-1.1279	10	0.09843	T	0.71	.	8.4892	0.33089	0.0801:0.2918:0.6281:0.0	.	228	Q8NGF4	O5AP2_HUMAN	I	229;228	ENSP00000442701:F229I;ENSP00000303111:F228I	ENSP00000303111:F228I	F	-	1	0	OR5AP2	56165810	0.054000	0.20591	1.000000	0.80357	0.989000	0.77384	0.189000	0.17037	0.710000	0.31997	-0.261000	0.10672	TTC	OR5AP2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000172464		0.443	OR5AP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OR5AP2	HGNC	protein_coding	OTTHUMT00000391613.1		0.00	66	0	A	NM_001002925		56409234	-1			no_errors	ENST00000544374	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.108	T
OR5H1	26341	genome.wustl.edu	37	3	97851542	97851542	+	Splice_Site	SNP	A	A	C			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr3:97851542A>C	ENST00000354565.2	+	1	1	c.1A>C	c.(1-3)Atg>Ctg	p.M1L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	1						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(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CTGTGAGGACATGGAAGAGGA	0.398																																																	0													84.0	85.0	85.0					3																	97851542		2202	4291	6493	SO:0001630	splice_region_variant	0			X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.1-1A>C	3.37:g.97851542A>C				Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M1L	ENST00000354565.2	37	c.1	CCDS33797.1	3	.	.	.	.	.	.	.	.	.	.	A	11.81	1.748858	0.30955	.	.	ENSG00000231192	ENST00000354565	T	0.01295	5.04	3.63	3.63	0.41609	.	0.144353	0.32802	N	0.005630	T	0.01222	0.0040	.	.	.	.	.	.	B	0.16802	0.019	B	0.20384	0.029	T	0.36986	-0.9725	7	.	.	.	.	10.2248	0.43218	1.0:0.0:0.0:0.0	.	1	A6NKK0	OR5H1_HUMAN	L	1	ENSP00000346575:M1L	.	M	+	1	0	OR5H1	99334232	1.000000	0.71417	0.017000	0.16124	0.062000	0.15995	4.678000	0.61641	1.511000	0.48818	0.164000	0.16699	ATG	OR5H1	-	NULL	ENSG00000231192		0.398	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H1	HGNC	protein_coding	OTTHUMT00000359100.2	-	0.00	93	0	A	NM_001005338	Missense_Mutation	97851542	+1	tier1	-	no_errors	ENST00000354565	ensembl	human	known	74_37	missense	10.13	71	8	SNP	0.219	C
OR6B2	389090	genome.wustl.edu	37	2	240969562	240969562	+	Silent	SNP	G	G	A	rs368904252		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr2:240969562G>A	ENST00000402971.2	-	1	344	c.285C>T	c.(283-285)gtC>gtT	p.V95V		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TCATGCACCCGACGAAAGAGA	0.577																																																	0								G		0,3722		0,0,1861	35.0	35.0	35.0		285	-8.7	0.0	2		35	1,8139		0,1,4069	no	coding-synonymous	OR6B2	NM_001005853.1		0,1,5930	AA,AG,GG		0.0123,0.0,0.0084		95/313	240969562	1,11861	1861	4070	5931	SO:0001819	synonymous_variant	0				CCDS46559.1	2q37.3	2012-08-09	2004-10-07	2004-10-07	ENSG00000182083	ENSG00000182083		"""GPCR / Class A : Olfactory receptors"""	15041	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily B, member 2 pseudogene"""	OR6B2P			Standard	XM_005247004		Approved		uc010zoc.2	Q6IFH4	OTTHUMG00000152400	ENST00000402971.2:c.285C>T	2.37:g.240969562G>A			B2RPR3|Q8NGW0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V95	ENST00000402971.2	37	c.285	CCDS46559.1	2																																																																																			OR6B2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000182083		0.577	OR6B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6B2	HGNC	protein_coding	OTTHUMT00000326079.1	-	0.00	43	0	G	NM_001005853		240969562	-1	tier1	-	no_errors	ENST00000402971	ensembl	human	known	74_37	silent	16.00	21	4	SNP	0.000	A
OR7E94P	79273	genome.wustl.edu	37	4	80508906	80508907	+	RNA	INS	-	-	AA	rs398107552|rs35732335	byFrequency	TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr4:80508906_80508907insAA	ENST00000601375.1	-	0	338_339									olfactory receptor, family 7, subfamily E, member 94 pseudogene																		aataataattgaaaaaaaaAGG	0.406																																																	0																																												0			AC013662		4q21.21	2013-09-24			ENSG00000249646	ENSG00000249646		"""GPCR / Class A : Olfactory receptors"""	14789	pseudogene	pseudogene							Standard	NG_002221		Approved				OTTHUMG00000160914		4.37:g.80508913_80508914dupAA				RNA	INS	-	NULL	ENST00000601375.1	37	NULL		4																																																																																			OR7E94P	-	-	ENSG00000249646		0.406	OR7E94P-002	KNOWN	basic	processed_transcript	OR7E94P	HGNC	pseudogene	OTTHUMT00000464523.1		0.00	30	0	-			80508907	-1	tier1		no_errors	ENST00000601375	ensembl	human	known	74_37	rna	15.00	17	3	INS	0.004:0.015	AA
OSTF1	26578	genome.wustl.edu	37	9	77745557	77745557	+	Splice_Site	SNP	G	G	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr9:77745557G>T	ENST00000346234.6	+	4	346	c.196G>T	c.(196-198)Gtg>Ttg	p.V66L		NM_012383.4	NP_036515.4	Q92882	OSTF1_HUMAN	osteoclast stimulating factor 1	66	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				ossification (GO:0001503)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)				endometrium(1)|skin(1)	2						AAGCAACTATGGTAAGTGTTG	0.413																																																	0													190.0	178.0	182.0					9																	77745557		2203	4300	6503	SO:0001630	splice_region_variant	0			U63717	CCDS6651.1	9q13-q21.2	2013-01-10			ENSG00000134996	ENSG00000134996		"""Ankyrin repeat domain containing"""	8510	protein-coding gene	gene with protein product		610180				10092216	Standard	NM_012383		Approved	SH3P2, OSF, bA235O14.1	uc004ajv.4	Q92882	OTTHUMG00000020033	ENST00000346234.6:c.196+1G>T	9.37:g.77745557G>T			Q5W126|Q96IJ4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Ankyrin_rpt	p.V66L	ENST00000346234.6	37	c.196	CCDS6651.1	9	.	.	.	.	.	.	.	.	.	.	G	31	5.074514	0.94000	.	.	ENSG00000134996	ENST00000346234	T	0.46451	0.87	5.35	5.35	0.76521	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.59074	0.2167	L	0.45581	1.43	0.80722	D	1	D;P	0.76494	0.999;0.795	D;P	0.77557	0.99;0.83	T	0.55927	-0.8063	10	0.45353	T	0.12	-6.317	18.19	0.89804	0.0:0.0:1.0:0.0	.	66;66	A8K646;Q92882	.;OSTF1_HUMAN	L	66	ENSP00000340836:V66L	ENSP00000340836:V66L	V	+	1	0	OSTF1	76935377	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	8.714000	0.91412	2.667000	0.90743	0.455000	0.32223	GTG	OSTF1	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	ENSG00000134996		0.413	OSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSTF1	HGNC	protein_coding	OTTHUMT00000052704.1	-	0.00	68	0	G	NM_012383	Missense_Mutation	77745557	+1	tier1	-	no_errors	ENST00000346234	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	T
PARP4	143	genome.wustl.edu	37	13	25016086	25016086	+	Silent	SNP	A	A	G	rs113538547		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr13:25016086A>G	ENST00000381989.3	-	30	3669	c.3564T>C	c.(3562-3564)ttT>ttC	p.F1188F		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1188					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.F1188F(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GAATATCAGGAAAAGGCGACT	0.413																																																	1	Substitution - coding silent(1)	prostate(1)											42.0	45.0	44.0					13																	25016086		2203	4300	6503	SO:0001819	synonymous_variant	0			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.3564T>C	13.37:g.25016086A>G			O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.F1188	ENST00000381989.3	37	c.3564	CCDS9307.1	13																																																																																			PARP4	-	NULL	ENSG00000102699		0.413	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP4	HGNC	protein_coding	OTTHUMT00000044189.1		0.00	23	0	A	NM_006437		25016086	-1			no_errors	ENST00000381989	ensembl	human	known	74_37	silent	23.08	10	3	SNP	0.000	G
PAXIP1	22976	genome.wustl.edu	37	7	154753307	154753307	+	Missense_Mutation	SNP	T	T	C			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr7:154753307T>C	ENST00000404141.1	-	11	2333	c.2179A>G	c.(2179-2181)Atg>Gtg	p.M727V	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.M727V			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	727	BRCT 4. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with TP53BP1.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		AAATAAGCCATTAATTTTAGG	0.338																																																	0													51.0	49.0	49.0					7																	154753307		1832	4085	5917	SO:0001583	missense	0			U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.2179A>G	7.37:g.154753307T>C	ENSP00000384048:p.Met727Val		O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.M727V	ENST00000404141.1	37	c.2179	CCDS47753.1	7	.	.	.	.	.	.	.	.	.	.	T	17.17	3.321077	0.60634	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199	D;D	0.82255	-1.59;-1.59	4.99	4.99	0.66335	BRCT (3);	0.000000	0.64402	U	0.000003	D	0.90686	0.7078	M	0.78637	2.42	0.54753	D	0.99998	D;D;D	0.64830	0.994;0.982;0.985	D;D;D	0.78314	0.991;0.961;0.977	D	0.92016	0.5622	10	0.87932	D	0	-52.4473	14.978	0.71289	0.0:0.0:0.0:1.0	.	680;693;727	B4DEQ6;Q6ZW49-1;Q6ZW49	.;.;PAXI1_HUMAN	V	727;727;551;680	ENSP00000384048:M727V;ENSP00000380376:M727V	ENSP00000319149:M680V	M	-	1	0	PAXIP1	154384240	1.000000	0.71417	0.966000	0.40874	0.983000	0.72400	7.359000	0.79477	1.989000	0.58080	0.482000	0.46254	ATG	PAXIP1	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	ENSG00000157212		0.338	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PAXIP1	HGNC	protein_coding	OTTHUMT00000322223.1	-	0.00	66	0	T	NM_007349		154753307	-1	tier1	-	no_errors	ENST00000397192	ensembl	human	known	74_37	missense	36.67	19	11	SNP	1.000	C
PCDH1	5097	genome.wustl.edu	37	5	141243246	141243246	+	Frame_Shift_Del	DEL	T	T	-			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr5:141243246delT	ENST00000394536.3	-	3	2789	c.2650delA	c.(2650-2652)agtfs	p.S884fs	PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000287008.3_Frame_Shift_Del_p.S884fs|PCDH1_ENST00000456271.1_Frame_Shift_Del_p.S872fs|PCDH1_ENST00000536585.1_Frame_Shift_Del_p.S862fs|PCDH1_ENST00000503492.1_Intron	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	884					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TGGTAACCACTTTTGGCCTCC	0.572																																					Ovarian(132;1609 1739 4190 14731 45037)												0													166.0	169.0	168.0					5																	141243246		2203	4300	6503	SO:0001589	frameshift_variant	0			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.2650delA	5.37:g.141243246delT	ENSP00000378043:p.Ser884fs		Q8IUP2	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S884fs	ENST00000394536.3	37	c.2650	CCDS43375.1	5																																																																																			PCDH1	-	pfam_Protocadherin	ENSG00000156453		0.572	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH1	HGNC	protein_coding	OTTHUMT00000251862.1		0.00	108	0	T	NM_032420		141243246	-1	tier1		no_errors	ENST00000287008	ensembl	human	known	74_37	frame_shift_del	5.00	38	2	DEL	1.000	-
PCDHA1	56147	genome.wustl.edu	37	5	140166704	140166706	+	In_Frame_Del	DEL	GTC	GTC	-			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	GTC	GTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr5:140166704_140166706delGTC	ENST00000504120.2	+	1	829_831	c.829_831delGTC	c.(829-831)gtcdel	p.V278del	PCDHA1_ENST00000394633.3_In_Frame_Del_p.V278del|PCDHA1_ENST00000378133.3_In_Frame_Del_p.V278del	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	278	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATGGTGAAGTCGTCTTTTCCT	0.394																																																	0																																										SO:0001651	inframe_deletion	0			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.829_831delGTC	5.37:g.140166707_140166709delGTC	ENSP00000420840:p.Val278del		O75288|Q9NRT7	In_Frame_Del	DEL	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V278in_frame_del	ENST00000504120.2	37	c.829_831	CCDS54913.1	5																																																																																			PCDHA1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204970		0.394	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHA1	HGNC	protein_coding	OTTHUMT00000389127.1		0.00	51	0	GTC	NM_018900		140166706	+1	tier1		no_errors	ENST00000504120	ensembl	human	known	74_37	in_frame_del	12.90	27	4	DEL	0.163:0.221:0.000	-
PCDHAC1	56135	genome.wustl.edu	37	5	140306538	140306538	+	Missense_Mutation	SNP	C	C	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr5:140306538C>A	ENST00000253807.2	+	1	61	c.61C>A	c.(61-63)Cag>Aag	p.Q21K	PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.Q21K|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	21	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGCGGGACAGCTCGAGTA	0.637																																																	0													106.0	125.0	119.0					5																	140306538		2203	4300	6503	SO:0001583	missense	0			AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.61C>A	5.37:g.140306538C>A	ENSP00000253807:p.Gln21Lys		Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.Q21K	ENST00000253807.2	37	c.61	CCDS4241.1	5	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996863	0.93167	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.30981	1.51;1.51	5.14	5.14	0.70334	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.57829	0.2080	M	0.86502	2.82	0.31986	N	0.605267	D;B	0.59767	0.986;0.121	P;B	0.58780	0.845;0.06	T	0.70680	-0.4805	9	0.72032	D	0.01	.	16.7707	0.85536	0.0:1.0:0.0:0.0	.	21;21	Q9H158;Q9H158-2	PCDC1_HUMAN;.	K	21	ENSP00000386356:Q21K;ENSP00000253807:Q21K	ENSP00000253807:Q21K	Q	+	1	0	PCDHAC1	140286722	0.740000	0.28207	0.772000	0.31596	0.647000	0.38526	2.545000	0.45769	2.383000	0.81215	0.561000	0.74099	CAG	PCDHAC1	-	pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000248383		0.637	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHAC1	HGNC	protein_coding	OTTHUMT00000251798.1	-	0.00	41	0	C	NM_018898		140306538	+1	tier1	-	no_errors	ENST00000253807	ensembl	human	known	74_37	missense	26.92	19	7	SNP	1.000	A
PCDHB4	56131	genome.wustl.edu	37	5	140501605	140501605	+	Missense_Mutation	SNP	C	C	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr5:140501605C>A	ENST00000194152.1	+	1	25	c.25C>A	c.(25-27)Cca>Aca	p.P9T	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	9					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGAATTCATCCAAACAGGCA	0.468																																																	0													106.0	107.0	107.0					5																	140501605		2203	4300	6503	SO:0001583	missense	0			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.25C>A	5.37:g.140501605C>A	ENSP00000194152:p.Pro9Thr		Q4V761	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P9T	ENST00000194152.1	37	c.25	CCDS4246.1	5	.	.	.	.	.	.	.	.	.	.	C	11.36	1.617091	0.28801	.	.	ENSG00000081818	ENST00000194152	T	0.44083	0.93	4.78	2.94	0.34122	.	.	.	.	.	T	0.30324	0.0761	L	0.39898	1.24	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.24440	-1.0160	9	0.49607	T	0.09	.	3.9381	0.09314	0.3365:0.487:0.0:0.1765	.	9	Q9Y5E5	PCDB4_HUMAN	T	9	ENSP00000194152:P9T	ENSP00000194152:P9T	P	+	1	0	PCDHB4	140481789	0.000000	0.05858	0.057000	0.19452	0.977000	0.68977	-0.054000	0.11826	0.689000	0.31550	0.655000	0.94253	CCA	PCDHB4	-	NULL	ENSG00000081818		0.468	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB4	HGNC	protein_coding	OTTHUMT00000251812.2	-	0.00	81	0	C	NM_018938		140501605	+1	tier1	-	no_errors	ENST00000194152	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.000	A
PCDHB13	56123	genome.wustl.edu	37	5	140595516	140595516	+	Silent	SNP	C	C	G			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr5:140595516C>G	ENST00000341948.4	+	1	2008	c.1821C>G	c.(1819-1821)ctC>ctG	p.L607L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	607	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCAGCTGCTCAAGGCCACGG	0.716																																																	0													7.0	8.0	8.0					5																	140595516		1709	3383	5092	SO:0001819	synonymous_variant	0			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1821C>G	5.37:g.140595516C>G			A8K9V6	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L607	ENST00000341948.4	37	c.1821	CCDS4255.1	5																																																																																			PCDHB13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000187372		0.716	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB13	HGNC	protein_coding	OTTHUMT00000251810.1	-	0.00	69	0	C	NM_018933		140595516	+1	tier1	-	no_errors	ENST00000341948	ensembl	human	known	74_37	silent	38.64	27	17	SNP	0.997	G
PID1	55022	genome.wustl.edu	37	2	229890706	229890706	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr2:229890706G>A	ENST00000354069.6	-	3	425	c.395C>T	c.(394-396)gCc>gTc	p.A132V	PID1_ENST00000409462.1_Missense_Mutation_p.A50V|PID1_ENST00000392054.3_Missense_Mutation_p.A130V|PID1_ENST00000482518.2_Intron|PID1_ENST00000392055.3_Missense_Mutation_p.A99V			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	132	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GAGGGCATTGGCCGGAAAGAC	0.562																																																	0													93.0	89.0	90.0					2																	229890706		2203	4300	6503	SO:0001583	missense	0			AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.395C>T	2.37:g.229890706G>A	ENSP00000283937:p.Ala132Val		B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	p.A132V	ENST00000354069.6	37	c.395		2	.	.	.	.	.	.	.	.	.	.	G	19.49	3.838359	0.71373	.	.	ENSG00000153823	ENST00000392054;ENST00000409462;ENST00000392055;ENST00000542363;ENST00000354069	.	.	.	5.4	5.4	0.78164	Pleckstrin homology-type (1);	0.368343	0.30791	N	0.008870	T	0.39200	0.1069	N	0.08118	0	0.40739	D	0.982813	B;B;B;B	0.26845	0.114;0.114;0.161;0.062	B;B;B;B	0.26770	0.026;0.016;0.073;0.055	T	0.27839	-1.0062	8	.	.	.	-36.2798	18.5255	0.90971	0.0:0.0:1.0:0.0	.	50;99;130;132	Q7Z2X4-3;Q7Z2X4-4;Q7Z2X4-2;Q7Z2X4	.;.;.;PCLI1_HUMAN	V	130;50;99;132;132	.	.	A	-	2	0	PID1	229598950	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.806000	0.69150	2.692000	0.91855	0.655000	0.94253	GCC	PID1	-	smart_PTB/PI_dom	ENSG00000153823		0.562	PID1-005	KNOWN	basic	protein_coding	PID1	HGNC	protein_coding	OTTHUMT00000331810.2	-	0.00	93	0	G	NM_017933		229890706	-1	tier1	-	no_errors	ENST00000354069	ensembl	human	known	74_37	missense	21.05	30	8	SNP	0.999	A
PIGX	54965	genome.wustl.edu	37	3	196460740	196460740	+	Silent	SNP	A	A	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr3:196460740A>T	ENST00000314118.4	+	6	903	c.621A>T	c.(619-621)gtA>gtT	p.V207V	PIGX_ENST00000541663.1_Silent_p.V158V	NM_017861.3	NP_060331.3	Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class X	248					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		TGATCCTTGTAGCAGTTTTCA	0.368																																																	0													207.0	180.0	189.0					3																	196460740		2203	4300	6503	SO:0001819	synonymous_variant	0			AK000529	CCDS3320.1, CCDS3320.2, CCDS54701.1	3q29	2013-02-26	2006-06-28		ENSG00000163964	ENSG00000163964		"""Phosphatidylinositol glycan anchor biosynthesis"""	26046	protein-coding gene	gene with protein product		610276	"""phosphatidylinositol glycan, class X"""			15635094	Standard	NM_017861		Approved	FLJ20522	uc010iaj.3	Q8TBF5	OTTHUMG00000155535	ENST00000314118.4:c.621A>T	3.37:g.196460740A>T			Q9NWZ2	Silent	SNP	pfam_PIG-X/PBN1,smart_PIG-X/PBN1	p.V266	ENST00000314118.4	37	c.798		3																																																																																			PIGX	-	pfam_PIG-X/PBN1,smart_PIG-X/PBN1	ENSG00000163964		0.368	PIGX-201	KNOWN	basic|appris_principal	protein_coding	PIGX	HGNC	protein_coding		-	0.00	72	0	A	NM_017861		196460740	+1	tier1	-	no_errors	ENST00000296333	ensembl	human	known	74_37	silent	43.30	55	42	SNP	0.000	T
PIK3C2G	5288	genome.wustl.edu	37	12	18435079	18435079	+	Missense_Mutation	SNP	C	C	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:18435079C>A	ENST00000266497.5	+	1	102	c.64C>A	c.(64-66)Caa>Aaa	p.Q22K	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.Q22K|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.Q22K|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.Q22K|RERGL_ENST00000541632.1_Intron			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	22					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.Q22*(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GTATGAACACCAAGAATTTCT	0.388																																																	2	Substitution - Nonsense(2)	skin(2)											63.0	59.0	61.0					12																	18435079		1854	4098	5952	SO:0001583	missense	0			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.64C>A	12.37:g.18435079C>A	ENSP00000266497:p.Gln22Lys		A1L3U0	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.Q22K	ENST00000266497.5	37	c.64	CCDS44839.1	12	.	.	.	.	.	.	.	.	.	.	C	6.569	0.473309	0.12461	.	.	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	T;T;T;T	0.61392	1.46;0.11;0.11;0.14	4.37	2.42	0.29668	.	0.959848	0.08620	N	0.918582	T	0.43831	0.1265	L	0.32530	0.975	0.09310	N	1	B;B	0.12013	0.005;0.002	B;B	0.09377	0.004;0.002	T	0.28650	-1.0037	10	0.29301	T	0.29	-1.4232	6.8361	0.23937	0.2239:0.5954:0.1807:0.0	.	22;22	F5H369;O75747	.;P3C2G_HUMAN	K	22	ENSP00000443850:Q22K;ENSP00000404845:Q22K;ENSP00000266497:Q22K;ENSP00000445381:Q22K	ENSP00000266497:Q22K	Q	+	1	0	PIK3C2G	18326346	0.017000	0.18338	0.024000	0.17045	0.431000	0.31685	0.961000	0.29267	0.698000	0.31739	0.655000	0.94253	CAA	PIK3C2G	-	NULL	ENSG00000139144		0.388	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PIK3C2G	HGNC	protein_coding	OTTHUMT00000401316.1		0.00	53	0	C	NM_004570		18435079	+1			no_errors	ENST00000538779	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.032	A
PKD1L1	168507	genome.wustl.edu	37	7	47921601	47921601	+	Silent	SNP	G	G	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr7:47921601G>T	ENST00000289672.2	-	20	3398	c.3348C>A	c.(3346-3348)ccC>ccA	p.P1116P		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1116	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CAGACAGGGAGGGGTCCACCA	0.562																																																	0													80.0	71.0	74.0					7																	47921601		2203	4300	6503	SO:0001819	synonymous_variant	0			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.3348C>A	7.37:g.47921601G>T			Q6UWK1	Silent	SNP	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like	p.P1116	ENST00000289672.2	37	c.3348	CCDS34633.1	7																																																																																			PKD1L1	-	pfam_PKD/REJ-like,pfscan_REJ-like	ENSG00000158683		0.562	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1		0.00	55	0	G	NM_138295		47921601	-1			no_errors	ENST00000289672	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.009	T
PLCB1	23236	genome.wustl.edu	37	20	8770221	8770221	+	Splice_Site	SNP	G	G	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr20:8770221G>T	ENST00000338037.6	+	30	3362	c.3335G>T	c.(3334-3336)aGg>aTg	p.R1112M	PLCB1_ENST00000378641.3_Splice_Site_p.R1112M|PLCB1_ENST00000378637.2_Splice_Site_p.R1112M	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1112					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TATATCAAGAGGGTATGTGGG	0.433																																																	0													271.0	231.0	245.0					20																	8770221		2203	4300	6503	SO:0001630	splice_region_variant	0			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.3336+1G>T	20.37:g.8770221G>T			D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.R1112M	ENST00000338037.6	37	c.3335	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	G	30	5.054882	0.93793	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.52983	0.64;0.64;0.64	5.87	5.87	0.94306	PLC-beta, C-terminal (1);	0.144804	0.64402	D	0.000011	T	0.68659	0.3025	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.75020	0.985;0.982	T	0.68281	-0.5450	10	0.87932	D	0	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	1112;1112	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	M	1112;1112;1112;1032;1032	ENSP00000367908:R1112M;ENSP00000338185:R1112M;ENSP00000367904:R1112M	ENSP00000338185:R1112M	R	+	2	0	PLCB1	8718221	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	9.254000	0.95512	2.941000	0.99782	0.655000	0.94253	AGG	PLCB1	-	pirsf_PLC-beta,pfam_PLC-beta_C	ENSG00000182621		0.433	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	-	0.00	53	0	G		Missense_Mutation	8770221	+1	tier1	-	no_errors	ENST00000338037	ensembl	human	known	74_37	missense	11.11	24	3	SNP	1.000	T
PLXNB1	5364	genome.wustl.edu	37	3	48456238	48456238	+	Silent	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr3:48456238C>T	ENST00000358536.4	-	21	4448	c.4179G>A	c.(4177-4179)cgG>cgA	p.R1393R	PLXNB1_ENST00000296440.6_Silent_p.R1393R|PLXNB1_ENST00000448774.2_Silent_p.R4R|PLXNB1_ENST00000465117.1_5'UTR|PLXNB1_ENST00000456774.1_Silent_p.R1210R|PLXNB1_ENST00000358459.4_Silent_p.R1210R	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1393					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGGCTTGTGCCGGAATGGCA	0.602																																																	0													79.0	83.0	82.0					3																	48456238		2203	4300	6503	SO:0001819	synonymous_variant	0			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.4179G>A	3.37:g.48456238C>T			A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,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.R1393	ENST00000358536.4	37	c.4179	CCDS2765.1	3																																																																																			PLXNB1	-	NULL	ENSG00000164050		0.602	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	HGNC	protein_coding	OTTHUMT00000344454.1	-	0.00	71	0	C	NM_002673		48456238	-1	tier1	-	no_errors	ENST00000296440	ensembl	human	known	74_37	silent	20.00	16	4	SNP	1.000	T
PLXNB2	23654	genome.wustl.edu	37	22	50728477	50728477	+	Silent	SNP	G	G	A	rs370273991		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr22:50728477G>A	ENST00000449103.1	-	3	677	c.537C>T	c.(535-537)aaC>aaT	p.N179N	PLXNB2_ENST00000359337.4_Silent_p.N179N			O15031	PLXB2_HUMAN	plexin B2	179	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGATGATGCCGTTGTCGTGTG	0.627																																																	0								G		0,4382		0,0,2191	90.0	95.0	93.0		537	-0.7	1.0	22		93	3,8557	3.0+/-9.4	0,3,4277	no	coding-synonymous	PLXNB2	NM_012401.3		0,3,6468	AA,AG,GG		0.035,0.0,0.0232		179/1839	50728477	3,12939	2191	4280	6471	SO:0001819	synonymous_variant	0				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.537C>T	22.37:g.50728477G>A			A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,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.N179	ENST00000449103.1	37	c.537	CCDS43035.1	22																																																																																			PLXNB2	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000196576		0.627	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3	-	0.00	49	0	G	NM_012401		50728477	-1	tier1	-	no_errors	ENST00000359337	ensembl	human	known	74_37	silent	64.29	5	9	SNP	0.848	A
PON1	5444	genome.wustl.edu	37	7	94935642	94935642	+	Missense_Mutation	SNP	A	A	C			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr7:94935642A>C	ENST00000222381.3	-	7	966	c.735T>G	c.(733-735)atT>atG	p.I245M	PON1_ENST00000542556.1_Missense_Mutation_p.I245M	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	245					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|dephosphorylation (GO:0016311)|organophosphate catabolic process (GO:0046434)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of binding (GO:0051099)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of transporter activity (GO:0032411)|response to external stimulus (GO:0009605)|response to toxic substance (GO:0009636)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|intracellular membrane-bounded organelle (GO:0043231)|spherical high-density lipoprotein particle (GO:0034366)	aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Cefazolin(DB01327)	CATACACATGAATCTTATGAG	0.338																																					GBM(119;715 1622 17358 22490 33240)												0													146.0	144.0	145.0					7																	94935642		2203	4300	6503	SO:0001583	missense	0			AF539592	CCDS5638.1	7q21.3	2014-03-14			ENSG00000005421	ENSG00000005421	3.1.1.2	"""Paraoxonases"""	9204	protein-coding gene	gene with protein product	"""esterase A"", ""arylesterase 1"""	168820		PON		8661009, 15450851	Standard	NM_000446		Approved	ESA	uc003uns.3	P27169	OTTHUMG00000153894	ENST00000222381.3:c.735T>G	7.37:g.94935642A>C	ENSP00000222381:p.Ile245Met		B2RA40|Q16052|Q6B0J6|Q9UCB1	Missense_Mutation	SNP	pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase1	p.I245M	ENST00000222381.3	37	c.735	CCDS5638.1	7	.	.	.	.	.	.	.	.	.	.	A	16.34	3.096284	0.56075	.	.	ENSG00000005421	ENST00000222381;ENST00000542556	T;T	0.58797	0.31;0.31	4.95	2.52	0.30459	Six-bladed beta-propeller, TolB-like (1);	0.163360	0.56097	D	0.000038	T	0.78375	0.4273	M	0.93507	3.425	0.46478	D	0.999066	D;D	0.71674	0.995;0.998	D;D	0.74023	0.967;0.982	T	0.78994	-0.1984	10	0.87932	D	0	-24.9772	8.6423	0.33985	0.7552:0.0:0.2448:0.0	.	245;245	F5H4W9;P27169	.;PON1_HUMAN	M	245	ENSP00000222381:I245M;ENSP00000444854:I245M	ENSP00000222381:I245M	I	-	3	3	PON1	94773578	0.914000	0.31030	1.000000	0.80357	0.998000	0.95712	-0.064000	0.11636	0.440000	0.26502	0.459000	0.35465	ATT	PON1	-	pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase	ENSG00000005421		0.338	PON1-001	KNOWN	basic|CCDS	protein_coding	PON1	HGNC	protein_coding	OTTHUMT00000332865.2	-	0.00	74	0	A	NM_000446		94935642	-1	tier1	-	no_errors	ENST00000222381	ensembl	human	known	74_37	missense	12.96	47	7	SNP	1.000	C
PPIG	9360	genome.wustl.edu	37	2	170487452	170487452	+	Missense_Mutation	SNP	G	G	T	rs200547187		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr2:170487452G>T	ENST00000260970.3	+	10	936	c.716G>T	c.(715-717)cGa>cTa	p.R239L	PPIG_ENST00000448752.2_Missense_Mutation_p.R239L|PPIG_ENST00000462903.1_Missense_Mutation_p.R239L|PPIG_ENST00000409714.3_Missense_Mutation_p.R224L|PPIG_ENST00000482772.1_3'UTR	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	239	Arg/Lys-rich (basic).				protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)	p.R239Q(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AAAAATTCCCGAAAACACAAG	0.333																																																	1	Substitution - Missense(1)	large_intestine(1)											29.0	33.0	31.0					2																	170487452		2153	4174	6327	SO:0001583	missense	0			X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.716G>T	2.37:g.170487452G>T	ENSP00000260970:p.Arg239Leu		D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.R239L	ENST00000260970.3	37	c.716	CCDS2235.1	2	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539664	0.65085	.	.	ENSG00000138398	ENST00000260970;ENST00000530133;ENST00000433207;ENST00000409714;ENST00000462903;ENST00000448752;ENST00000414307	T;T;T;T;T;T	0.29397	2.21;1.77;2.2;1.57;2.21;1.89	5.74	5.74	0.90152	.	0.746276	0.11691	N	0.538939	T	0.17916	0.0430	N	0.19112	0.55	0.39277	D	0.96448	P;B;B;B;B	0.44090	0.826;0.451;0.451;0.3;0.451	B;B;B;B;B	0.37346	0.247;0.127;0.097;0.099;0.097	T	0.02539	-1.1144	10	0.22109	T	0.4	0.117	7.8993	0.29725	0.1941:0.0:0.8059:0.0	.	235;224;224;239;239	C9JM79;E9PG73;Q2NKQ6;Q13427-2;Q13427	.;.;.;.;PPIG_HUMAN	L	239;239;235;224;239;239;239	ENSP00000260970:R239L;ENSP00000408683:R235L;ENSP00000386245:R224L;ENSP00000435987:R239L;ENSP00000407083:R239L;ENSP00000402222:R239L	ENSP00000260970:R239L	R	+	2	0	PPIG	170195698	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.228000	0.42981	2.683000	0.91414	0.655000	0.94253	CGA	PPIG	-	NULL	ENSG00000138398		0.333	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIG	HGNC	protein_coding	OTTHUMT00000255264.2		0.00	107	0	G			170487452	+1			no_errors	ENST00000260970	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T
PPL	5493	genome.wustl.edu	37	16	4938128	4938128	+	Missense_Mutation	SNP	G	G	C			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr16:4938128G>C	ENST00000345988.2	-	20	2578	c.2489C>G	c.(2488-2490)tCt>tGt	p.S830C	PPL_ENST00000590782.2_Missense_Mutation_p.S828C	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	830					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GGTGGCAGGAGATTGGAGCCT	0.562																																																	0													136.0	115.0	122.0					16																	4938128		2197	4300	6497	SO:0001583	missense	0			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.2489C>G	16.37:g.4938128G>C	ENSP00000340510:p.Ser830Cys		O60314|O60454|Q14C98	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.S830C	ENST00000345988.2	37	c.2489	CCDS10526.1	16	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308740	0.81247	.	.	ENSG00000118898	ENST00000345988	T	0.58940	0.3	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.70945	0.3282	M	0.72118	2.19	0.58432	D	0.999999	D	0.58620	0.983	P	0.54499	0.754	T	0.74680	-0.3584	10	0.66056	D	0.02	.	19.0094	0.92867	0.0:0.0:1.0:0.0	.	830	O60437	PEPL_HUMAN	C	830	ENSP00000340510:S830C	ENSP00000340510:S830C	S	-	2	0	PPL	4878129	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	7.568000	0.82369	2.502000	0.84385	0.561000	0.74099	TCT	PPL	-	smart_Spectrin/alpha-actinin	ENSG00000118898		0.562	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPL	HGNC	protein_coding	OTTHUMT00000251715.1	-	0.00	55	0	G	NM_002705		4938128	-1	tier1	-	no_errors	ENST00000345988	ensembl	human	known	74_37	missense	18.75	26	6	SNP	1.000	C
PPM1K	152926	genome.wustl.edu	37	4	89198299	89198299	+	Silent	SNP	A	A	G			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr4:89198299A>G	ENST00000608933.1	-	3	926	c.537T>C	c.(535-537)gcT>gcC	p.A179A	PPM1K_ENST00000514204.1_Silent_p.A179A|RNU6-112P_ENST00000363599.1_RNA|PPM1K_ENST00000508256.1_5'UTR|PPM1K_ENST00000315194.4_Silent_p.A179A|PPM1K_ENST00000295908.7_Silent_p.A179A|PPM1K_ENST00000506423.1_5'UTR	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	179	PP2C-like.				protein dephosphorylation (GO:0006470)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		ACATACCATCAGCAGACAGGC	0.448																																																	0													75.0	78.0	77.0					4																	89198299		2203	4300	6503	SO:0001819	synonymous_variant	0			BC037552	CCDS3629.1	4q22.1	2012-04-17	2010-03-05		ENSG00000163644	ENSG00000163644	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	25415	protein-coding gene	gene with protein product	"""PP2C-type mitochondrial phosphoprotein phosphatase"", ""protein phosphatase 2C kappa"", ""branched-chain &#945;-ketoacid dehydrogenase phosphatase"""	611065	"""protein phosphatase 1K (PP2C domain containing)"""			22291014	Standard	NM_152542		Approved	DKFZp761G058, PP2Ckappa, hPTMP, PP2Cm, BDP	uc003hrm.5	Q8N3J5	OTTHUMG00000130952	ENST00000608933.1:c.537T>C	4.37:g.89198299A>G			B2RAZ1|Q05CT5|Q49AB5|Q4W5E6|Q56AN8|Q8IUZ7|Q8IXG7|Q8ND70|Q96NT4	Silent	SNP	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.A179	ENST00000608933.1	37	c.537	CCDS3629.1	4																																																																																			PPM1K	-	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	ENSG00000163644		0.448	PPM1K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1K	HGNC	protein_coding	OTTHUMT00000253553.4	-	0.00	96	0	A	NM_152542		89198299	-1	tier1	-	no_errors	ENST00000608933	ensembl	human	known	74_37	silent	36.96	29	17	SNP	1.000	G
PRR12	57479	genome.wustl.edu	37	19	50101025	50101025	+	Frame_Shift_Del	DEL	C	C	-			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:50101025delC	ENST00000418929.2	+	4	3445	c.3433delC	c.(3433-3435)cccfs	p.P1145fs		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CTTCTGCCCACCCAACCCAGG	0.741																																																	0													10.0	13.0	12.0					19																	50101025		1971	4119	6090	SO:0001589	frameshift_variant	0			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.3433delC	19.37:g.50101025delC	ENSP00000394510:p.Pro1145fs		E9PB06|Q8N4J6	Frame_Shift_Del	DEL	NULL	p.N1146fs	ENST00000418929.2	37	c.3433	CCDS46143.1	19																																																																																			PRR12	-	NULL	ENSG00000126464		0.741	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR12	HGNC	protein_coding	OTTHUMT00000465915.1		0.00	14	0	C	NM_020719		50101025	+1	tier1		no_errors	ENST00000418929	ensembl	human	novel	74_37	frame_shift_del	33.33	4	2	DEL	0.982	-
PRRC2C	23215	genome.wustl.edu	37	1	171560972	171560972	+	Missense_Mutation	SNP	G	G	C			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:171560972G>C	ENST00000338920.4	+	34	8677	c.8440G>C	c.(8440-8442)Gaa>Caa	p.E2814Q	PRRC2C_ENST00000367742.3_Missense_Mutation_p.E2816Q|PRRC2C_ENST00000392078.3_Missense_Mutation_p.E2895Q|PRRC2C_ENST00000426496.2_Missense_Mutation_p.E2749Q	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2893					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										CAAAACCGAAGAAACAAAATC	0.478																																																	0													88.0	89.0	88.0					1																	171560972		1843	4083	5926	SO:0001583	missense	0			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.8440G>C	1.37:g.171560972G>C	ENSP00000343629:p.Glu2814Gln		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	pfam_BAT2_N	p.E2895Q	ENST00000338920.4	37	c.8683	CCDS1296.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.08|16.08	3.020425|3.020425	0.54576|0.54576	.|.	.|.	ENSG00000117523|ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080|ENST00000495585	T;T;T;T|.	0.04454|.	3.84;3.65;3.62;3.62|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	.|.	.|.	.|.	.|.	T|T	0.46964|0.46964	0.1420|0.1420	L|L	0.27053|0.27053	0.805|0.805	0.41409|0.41409	D|D	0.987729|0.987729	P;D|.	0.89917|.	0.751;1.0|.	B;D|.	0.71870|.	0.229;0.975|.	T|T	0.39187|0.39187	-0.9626|-0.9626	9|5	0.72032|.	D|.	0.01|.	.|.	19.5655|19.5655	0.95391|0.95391	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2749;2814|.	B7WNZ6;Q9Y520-4|.	.;.|.	Q|N	2895;2847;2749;2816;2814;2650|1296	ENSP00000375928:E2895Q;ENSP00000410219:E2749Q;ENSP00000356716:E2816Q;ENSP00000343629:E2814Q|.	ENSP00000343629:E2814Q|.	E|K	+|+	1|3	0|2	PRRC2C|PRRC2C	169827595|169827595	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	8.954000|8.954000	0.93051|0.93051	2.639000|2.639000	0.89480|0.89480	0.591000|0.591000	0.81541|0.81541	GAA|AAG	PRRC2C	-	NULL	ENSG00000117523		0.478	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	HGNC	protein_coding	OTTHUMT00000314826.4	-	0.00	108	0	G	NM_015172		171560972	+1	tier1	-	no_errors	ENST00000392078	ensembl	human	known	74_37	missense	18.37	40	9	SNP	1.000	C
PTCH1	5727	genome.wustl.edu	37	9	98218581	98218581	+	Nonsense_Mutation	SNP	C	C	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr9:98218581C>A	ENST00000331920.6	-	19	3582	c.3283G>T	c.(3283-3285)Gag>Tag	p.E1095*	PTCH1_ENST00000429896.2_Nonsense_Mutation_p.E944*|PTCH1_ENST00000437951.1_Nonsense_Mutation_p.E1029*|PTCH1_ENST00000418258.1_Nonsense_Mutation_p.E944*|PTCH1_ENST00000375274.2_Nonsense_Mutation_p.E1094*|PTCH1_ENST00000421141.1_Nonsense_Mutation_p.E944*|PTCH1_ENST00000430669.2_Nonsense_Mutation_p.E1029*	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1095					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.V1057_L1102del(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ACGGTGAACTCCACTCCTATG	0.507																																																	1	Deletion - In frame(1)	central_nervous_system(1)											154.0	119.0	131.0					9																	98218581		2203	4300	6503	SO:0001587	stop_gained	0			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3283G>T	9.37:g.98218581C>A	ENSP00000332353:p.Glu1095*		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Nonsense_Mutation	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.E1095*	ENST00000331920.6	37	c.3283	CCDS6714.1	9	.	.	.	.	.	.	.	.	.	.	C	39	7.701347	0.98441	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.8299	19.2907	0.94098	0.0:1.0:0.0:0.0	.	.	.	.	X	1095;1029;944;944;531;1029;944;1094	.	ENSP00000332353:E1095X	E	-	1	0	PTCH1	97258402	1.000000	0.71417	0.967000	0.41034	0.169000	0.22640	7.487000	0.81328	2.575000	0.86900	0.655000	0.94253	GAG	PTCH1	-	pfam_Patched,tigrfam_TM_rcpt_patched	ENSG00000185920		0.507	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCH1	HGNC	protein_coding	OTTHUMT00000053229.2	-	0.00	55	0	C	NM_000264		98218581	-1	tier1	-	no_errors	ENST00000331920	ensembl	human	known	74_37	nonsense	44.44	15	12	SNP	1.000	A
PTH1R	5745	genome.wustl.edu	37	3	46939390	46939390	+	Missense_Mutation	SNP	T	T	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr3:46939390T>A	ENST00000313049.5	+	4	562	c.359T>A	c.(358-360)cTg>cAg	p.L120Q	PTH1R_ENST00000430002.2_Missense_Mutation_p.L120Q|PTH1R_ENST00000490109.1_3'UTR|PTH1R_ENST00000449590.1_Missense_Mutation_p.L120Q|PTH1R_ENST00000418619.1_Missense_Mutation_p.L120Q			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	120					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	TGCTGGCCGCTGGGGGCACCA	0.597																																																	0													53.0	50.0	51.0					3																	46939390		2203	4300	6503	SO:0001583	missense	0				CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"""GPCR / Class B : Parathyroid hormone receptors"""	9608	protein-coding gene	gene with protein product		168468	"""parathyroid hormone receptor 1"""	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.359T>A	3.37:g.46939390T>A	ENSP00000321999:p.Leu120Gln		Q2M1U3	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_parathyroid_rcpt	p.L120Q	ENST00000313049.5	37	c.359	CCDS2747.1	3	.	.	.	.	.	.	.	.	.	.	T	7.221	0.597316	0.13875	.	.	ENSG00000160801	ENST00000449590;ENST00000418619;ENST00000427125;ENST00000430002;ENST00000313049	T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7	5.24	2.7	0.31948	GPCR, family 2, secretin-like, conserved site (1);GPCR, family 2, extracellular hormone receptor domain (3);	.	.	.	.	T	0.11196	0.0273	N	0.00289	-1.7	0.22034	N	0.999407	B	0.14012	0.009	B	0.15052	0.012	T	0.28618	-1.0038	9	0.13470	T	0.59	.	1.8766	0.03219	0.1625:0.0907:0.1688:0.578	.	120	Q03431	PTH1R_HUMAN	Q	120	ENSP00000402723:L120Q;ENSP00000411424:L120Q;ENSP00000400977:L120Q;ENSP00000413774:L120Q;ENSP00000321999:L120Q	ENSP00000321999:L120Q	L	+	2	0	PTH1R	46914394	0.005000	0.15991	0.432000	0.26747	0.974000	0.67602	0.904000	0.28491	0.832000	0.34804	0.459000	0.35465	CTG	PTH1R	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom	ENSG00000160801		0.597	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTH1R	HGNC	protein_coding	OTTHUMT00000257481.1	-	0.00	74	0	T	NM_000316		46939390	+1	tier1	-	no_errors	ENST00000313049	ensembl	human	known	74_37	missense	37.04	17	10	SNP	0.486	A
PYROXD1	79912	genome.wustl.edu	37	12	21614963	21614963	+	Missense_Mutation	SNP	A	A	G			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:21614963A>G	ENST00000240651.9	+	9	956	c.902A>G	c.(901-903)gAa>gGa	p.E301G	PYROXD1_ENST00000538582.1_Missense_Mutation_p.E230G|PYROXD1_ENST00000545178.1_3'UTR	NM_024854.3	NP_079130.2	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	301							oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						GTCTATGTGGAATTGACCAAT	0.373																																																	0													93.0	86.0	88.0					12																	21614963		2203	4300	6503	SO:0001583	missense	0			AL832441	CCDS31755.1	12p12.1	2014-02-12			ENSG00000121350	ENSG00000121350			26162	protein-coding gene	gene with protein product						12477932	Standard	NM_024854		Approved	DKFZp762G094, FLJ22028	uc001rew.3	Q8WU10	OTTHUMG00000169129	ENST00000240651.9:c.902A>G	12.37:g.21614963A>G	ENSP00000240651:p.Glu301Gly		A6NKI6|B3KWN8|Q9H6P1	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase	p.E301G	ENST00000240651.9	37	c.902	CCDS31755.1	12	.	.	.	.	.	.	.	.	.	.	A	15.62	2.886254	0.51908	.	.	ENSG00000121350	ENST00000536935;ENST00000240651;ENST00000538582	.	.	.	5.42	5.42	0.78866	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.101907	0.64402	D	0.000002	T	0.59238	0.2179	L	0.58428	1.81	0.80722	D	1	B	0.18863	0.031	B	0.23716	0.048	T	0.55256	-0.8169	9	0.24483	T	0.36	.	14.6354	0.68686	1.0:0.0:0.0:0.0	.	301	Q8WU10	PYRD1_HUMAN	G	7;301;230	.	ENSP00000240651:E301G	E	+	2	0	PYROXD1	21506230	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.070000	0.64376	2.055000	0.61198	0.460000	0.39030	GAA	PYROXD1	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	ENSG00000121350		0.373	PYROXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYROXD1	HGNC	protein_coding	OTTHUMT00000402363.1	-	0.00	32	0	A	NM_024854		21614963	+1	tier1	-	no_errors	ENST00000240651	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	G
PXN	5829	genome.wustl.edu	37	12	120651760	120651760	+	Missense_Mutation	SNP	C	C	T	rs372866217		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:120651760C>T	ENST00000228307.7	-	11	1535	c.1394G>A	c.(1393-1395)cGc>cAc	p.R465H	PXN_ENST00000397506.3_Missense_Mutation_p.R277H|PXN_ENST00000536957.1_Missense_Mutation_p.R463H|PXN-AS1_ENST00000539446.1_RNA|PXN_ENST00000424649.2_Missense_Mutation_p.R431H|PXN_ENST00000267257.7_Missense_Mutation_p.R479H|PXN_ENST00000458477.2_Missense_Mutation_p.R298H|PXN-AS1_ENST00000535200.1_RNA|PXN-AS1_ENST00000542265.1_RNA|PXN_ENST00000538144.1_5'UTR	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	465	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTAGTCCTTGCGACAGTAGGC	0.597																																																	0													41.0	48.0	46.0					12																	120651760		2051	4194	6245	SO:0001583	missense	0			U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.1394G>A	12.37:g.120651760C>T	ENSP00000228307:p.Arg465His		B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM,prints_Paxillin	p.R479H	ENST00000228307.7	37	c.1436	CCDS44997.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.447592	0.96205	.	.	ENSG00000089159	ENST00000458477;ENST00000228307;ENST00000424649;ENST00000536957;ENST00000267257;ENST00000397506;ENST00000331257;ENST00000541856	D;D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33;-2.33	5.24	5.24	0.73138	Zinc finger, LIM-type (4);	.	.	.	.	D	0.84651	0.5519	N	0.25031	0.7	0.80722	D	1	D;D;P;P	0.55385	0.971;0.971;0.739;0.95	B;P;B;P	0.48552	0.445;0.576;0.36;0.581	D	0.86947	0.2083	9	0.62326	D	0.03	.	18.8357	0.92162	0.0:1.0:0.0:0.0	.	431;479;277;465	P49023-2;P49023-3;E7EMK8;P49023	.;.;.;PAXI_HUMAN	H	298;465;431;463;479;277;93;190	ENSP00000395536:R298H;ENSP00000228307:R465H;ENSP00000391283:R431H;ENSP00000443887:R463H;ENSP00000267257:R479H;ENSP00000380643:R277H	ENSP00000228307:R465H	R	-	2	0	PXN	119136143	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.648000	0.83479	2.448000	0.82819	0.561000	0.74099	CGC	PXN	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000089159		0.597	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PXN	HGNC	protein_coding	OTTHUMT00000402679.4	-	0.00	71	0	C	NM_002859		120651760	-1	tier1	-	no_errors	ENST00000267257	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T
RALGPS2	55103	genome.wustl.edu	37	1	178790786	178790786	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:178790786G>A	ENST00000367635.3	+	7	765	c.427G>A	c.(427-429)Gtg>Atg	p.V143M	RALGPS2_ENST00000367634.2_Missense_Mutation_p.V143M	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	143	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						ACTTATGGCAGTGGTTTCTGG	0.383																																																	0													114.0	118.0	117.0					1																	178790786		2203	4300	6503	SO:0001583	missense	0			AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.427G>A	1.37:g.178790786G>A	ENSP00000356607:p.Val143Met		B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25	p.V143M	ENST00000367635.3	37	c.427	CCDS1325.1	1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674555	0.88445	.	.	ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778	T;T;T	0.38077	1.16;1.16;1.16	5.27	5.27	0.74061	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.66376	0.2783	M	0.87381	2.88	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.70487	0.969;0.958	T	0.71807	-0.4481	10	0.62326	D	0.03	.	18.9166	0.92508	0.0:0.0:1.0:0.0	.	143;143	B7Z7B1;Q86X27	.;RGPS2_HUMAN	M	143;143;108	ENSP00000356607:V143M;ENSP00000356606:V143M;ENSP00000313613:V108M	ENSP00000313613:V108M	V	+	1	0	RALGPS2	177057409	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.078000	0.94023	2.626000	0.88956	0.650000	0.86243	GTG	RALGPS2	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000116191		0.383	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGPS2	HGNC	protein_coding	OTTHUMT00000084926.2		0.00	46	0	G	NM_152663		178790786	+1			no_errors	ENST00000367635	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	A
RANBP3	8498	genome.wustl.edu	37	19	5951443	5951443	+	Silent	SNP	A	A	G			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:5951443A>G	ENST00000340578.6	-	3	300	c.243T>C	c.(241-243)ccT>ccC	p.P81P	RANBP3_ENST00000591124.1_Intron|RANBP3_ENST00000439268.2_Silent_p.P81P|RANBP3_ENST00000591092.1_Intron|RANBP3_ENST00000034275.8_Intron|RANBP3_ENST00000541471.1_Intron	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	81	Poly-Pro.				intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						GCTGGGCTTCAGGAGCGGGAG	0.677																																																	0													13.0	19.0	17.0					19																	5951443		2058	4195	6253	SO:0001819	synonymous_variant	0			Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4		ENST00000340578.6:c.243T>C	19.37:g.5951443A>G			B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Silent	SNP	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	p.P81	ENST00000340578.6	37	c.243	CCDS42478.1	19																																																																																			RANBP3	-	NULL	ENSG00000031823		0.677	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RANBP3	HGNC	protein_coding	OTTHUMT00000452304.1	-	0.00	119	0	A	NM_007322		5951443	-1	tier1	-	no_errors	ENST00000340578	ensembl	human	known	74_37	silent	7.02	53	4	SNP	1.000	G
RBMS3	27303	genome.wustl.edu	37	3	30032678	30032678	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr3:30032678G>A	ENST00000383767.2	+	14	1621	c.1285G>A	c.(1285-1287)Gca>Aca	p.A429T	RBMS3_ENST00000383766.2_Missense_Mutation_p.A411T|RBMS3_ENST00000434693.2_Missense_Mutation_p.A428T|RBMS3_ENST00000456853.1_Missense_Mutation_p.A426T|RBMS3_ENST00000273139.9_Missense_Mutation_p.A413T|RBMS3_ENST00000473799.1_3'UTR|RBMS3_ENST00000452462.1_Missense_Mutation_p.A413T|RBMS3_ENST00000396583.3_Missense_Mutation_p.A426T			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	429					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				ACATGCACCTGCATATTCTTA	0.483																																																	0													243.0	173.0	197.0					3																	30032678		2203	4300	6503	SO:0001583	missense	0			AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"""RNA binding motif (RRM) containing"""	13427	protein-coding gene	gene with protein product	"""RNA-binding protein"""	605786	"""RNA binding motif, single stranded interacting protein"""			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.1285G>A	3.37:g.30032678G>A	ENSP00000373277:p.Ala429Thr		A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA	p.A429T	ENST00000383767.2	37	c.1285	CCDS33724.1	3	.	.	.	.	.	.	.	.	.	.	G	17.78	3.473769	0.63737	.	.	ENSG00000144642	ENST00000434693;ENST00000396583;ENST00000383767;ENST00000273139;ENST00000383766;ENST00000452462;ENST00000456853	T;T;T;T;T;T;T	0.28454	1.62;1.64;1.63;1.63;1.79;1.61;1.64	5.3	5.3	0.74995	.	0.122286	0.56097	D	0.000032	T	0.27063	0.0663	L	0.34521	1.04	0.58432	D	0.999992	B;B;B;B	0.12630	0.003;0.006;0.006;0.004	B;B;B;B	0.17979	0.02;0.02;0.02;0.009	T	0.04752	-1.0929	9	.	.	.	.	18.9853	0.92767	0.0:0.0:1.0:0.0	.	413;426;411;429	G5E9J9;Q6XE24-2;Q6XE24-3;Q6XE24	.;.;.;RBMS3_HUMAN	T	428;426;429;413;411;413;426	ENSP00000395592:A428T;ENSP00000379828:A426T;ENSP00000373277:A429T;ENSP00000273139:A413T;ENSP00000373276:A411T;ENSP00000397926:A413T;ENSP00000400519:A426T	.	A	+	1	0	RBMS3	30007682	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.771000	0.68881	2.469000	0.83416	0.655000	0.94253	GCA	RBMS3	-	NULL	ENSG00000144642		0.483	RBMS3-001	KNOWN	basic|CCDS	protein_coding	RBMS3	HGNC	protein_coding	OTTHUMT00000341306.1	-	0.00	80	0	G	NM_001003792		30032678	+1	tier1	-	no_errors	ENST00000383767	ensembl	human	known	74_37	missense	15.00	17	3	SNP	1.000	A
RIOK2	55781	genome.wustl.edu	37	5	96512996	96512996	+	Splice_Site	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr5:96512996C>T	ENST00000283109.3	-	4	391		c.e4-1		CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_Splice_Site|RNU1-73P_ENST00000383971.1_RNA	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2								ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		ATGTAAATATCTAGAGACAAA	0.284																																																	0													81.0	85.0	84.0					5																	96512996		2202	4299	6501	SO:0001630	splice_region_variant	0			AK002021	CCDS4089.1, CCDS54884.1	5q14	2012-12-10	2012-12-10		ENSG00000058729	ENSG00000058729			18999	protein-coding gene	gene with protein product			"""RIO kinase 2 (yeast)"""				Standard	NM_018343		Approved	FLJ11159	uc003kmz.3	Q9BVS4	OTTHUMG00000128723	ENST00000283109.3:c.323-1G>A	5.37:g.96512996C>T			D6RDI3|Q9NUT0	Splice_Site	SNP	-	e4-1	ENST00000283109.3	37	c.323-1	CCDS4089.1	5	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188998	0.57909	.	.	ENSG00000058729	ENST00000283109;ENST00000508447	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1291	0.81414	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RIOK2	96538752	1.000000	0.71417	0.996000	0.52242	0.626000	0.37791	7.348000	0.79366	2.542000	0.85734	0.557000	0.71058	.	RIOK2	-	-	ENSG00000058729		0.284	RIOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIOK2	HGNC	protein_coding	OTTHUMT00000250628.1	-	0.00	42	0	C	NM_018343	Intron	96512996	-1	tier1	-	no_errors	ENST00000283109	ensembl	human	known	74_37	splice_site	13.64	19	3	SNP	1.000	T
GLOD4	51031	genome.wustl.edu	37	17	685696	685696	+	5'Flank	SNP	G	G	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr17:685696G>A	ENST00000301328.5	-	0	0				GLOD4_ENST00000536578.1_5'Flank|RNMTL1_ENST00000304478.4_Silent_p.A26A|GLOD4_ENST00000301329.6_5'Flank			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4							extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)		p.A26A(1)		endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		ACCTTGACGCGAGGCGCTGGG	0.677																																																	1	Substitution - coding silent(1)	lung(1)											30.0	34.0	33.0					17																	685696		2203	4299	6502	SO:0001631	upstream_gene_variant	0			AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 25"""	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38			17.37:g.685696G>A	Exception_encountered		D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Silent	SNP	pfam_SpoU_MeTrfase,pfam_SpoU_subst-bd,smart_SpoU_subst-bd	p.A26	ENST00000301328.5	37	c.78		17																																																																																			RNMTL1	-	NULL	ENSG00000171861		0.677	GLOD4-005	KNOWN	basic	protein_coding	RNMTL1	HGNC	protein_coding	OTTHUMT00000437190.1		0.00	65	0	G	NM_016080		685696	+1			no_errors	ENST00000304478	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.220	A
RPL12	6136	genome.wustl.edu	37	9	130212812	130212812	+	Intron	SNP	A	A	G			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr9:130212812A>G	ENST00000361436.5	-	2	199				LRSAM1_ENST00000373324.4_5'Flank|LRSAM1_ENST00000300417.6_5'Flank|RPL12_ENST00000497322.1_5'UTR|RPL12_ENST00000536368.1_Intron|SNORA65_ENST00000364432.1_RNA|LRSAM1_ENST00000373322.1_5'Flank|LRSAM1_ENST00000323301.4_5'Flank	NM_000976.3	NP_000967.1	P30050	RL12_HUMAN	ribosomal protein L12						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)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	4						ACATGGAGCTAATTACAATTT	0.498																																																	0																																										SO:0001627	intron_variant	0				CCDS6872.1	9q34	2011-04-06			ENSG00000197958	ENSG00000197958		"""L ribosomal proteins"""	10302	protein-coding gene	gene with protein product		180475				8441690	Standard	NM_000976		Approved	L12	uc004bqy.2	P30050	OTTHUMG00000020704	ENST00000361436.5:c.111+197T>C	9.37:g.130212812A>G			Q5VVV2|Q6PB27	RNA	SNP	-	NULL	ENST00000361436.5	37	NULL	CCDS6872.1	9																																																																																			RPL12	-	-	ENSG00000197958		0.498	RPL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL12	HGNC	protein_coding	OTTHUMT00000054189.1	-	0.00	17	0	A			130212812	-1	tier1	-	no_errors	ENST00000497322	ensembl	human	known	74_37	rna	58.33	5	7	SNP	0.000	G
RUSC1	23623	genome.wustl.edu	37	1	155296483	155296483	+	Silent	SNP	T	T	C			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:155296483T>C	ENST00000368352.5	+	8	2125	c.1974T>C	c.(1972-1974)acT>acC	p.T658T	RUSC1_ENST00000368354.3_Intron|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368349.4_Silent_p.T189T|RUSC1_ENST00000368347.4_Silent_p.T248T|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000292254.4_Silent_p.T189T	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	658	Interaction with IKBKG.|RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CGGTGCTCACTTTCCACCTGG	0.637																																																	0													62.0	65.0	64.0					1																	155296483		2203	4300	6503	SO:0001819	synonymous_variant	0			AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.1974T>C	1.37:g.155296483T>C			B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Silent	SNP	pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain	p.T658	ENST00000368352.5	37	c.1974	CCDS41410.1	1																																																																																			RUSC1	-	pfam_Run,smart_Run,pfscan_Run	ENSG00000160753		0.637	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUSC1	HGNC	protein_coding	OTTHUMT00000039071.1	-	0.00	47	0	T			155296483	+1	tier1	-	no_errors	ENST00000368352	ensembl	human	known	74_37	silent	41.67	14	10	SNP	1.000	C
SACS	26278	genome.wustl.edu	37	13	23911207	23911207	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr13:23911207C>T	ENST00000382292.3	-	9	7081	c.6808G>A	c.(6808-6810)Ggt>Agt	p.G2270S	SACS_ENST00000402364.1_Missense_Mutation_p.G1520S|SACS_ENST00000382298.3_Missense_Mutation_p.G2270S			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2270					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GAACCACAACCTCTAAAAGAA	0.353																																																	0													49.0	51.0	50.0					13																	23911207		2203	4298	6501	SO:0001583	missense	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.6808G>A	13.37:g.23911207C>T	ENSP00000371729:p.Gly2270Ser		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup	p.G2270S	ENST00000382292.3	37	c.6808	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	C	18.07	3.540692	0.65085	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.89617	-2.4;-2.54;-2.4	5.93	5.93	0.95920	.	0.053488	0.85682	N	0.000000	D	0.92951	0.7757	L	0.59436	1.845	0.58432	D	0.99999	D	0.63880	0.993	P	0.59948	0.866	D	0.92807	0.6261	10	0.72032	D	0.01	.	20.3507	0.98813	0.0:1.0:0.0:0.0	.	2270	Q9NZJ4	SACS_HUMAN	S	2270;1520;2270	ENSP00000371729:G2270S;ENSP00000385844:G1520S;ENSP00000371735:G2270S	ENSP00000371729:G2270S	G	-	1	0	SACS	22809207	1.000000	0.71417	0.979000	0.43373	0.291000	0.27294	7.487000	0.81328	2.808000	0.96608	0.655000	0.94253	GGT	SACS	-	NULL	ENSG00000151835		0.353	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	-	0.00	107	0	C	NM_014363		23911207	-1	tier1	-	no_errors	ENST00000382292	ensembl	human	known	74_37	missense	22.22	35	10	SNP	1.000	T
SCAF11	9169	genome.wustl.edu	37	12	46320784	46320784	+	Missense_Mutation	SNP	A	A	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:46320784A>T	ENST00000369367.3	-	11	2933	c.2700T>A	c.(2698-2700)gaT>gaA	p.D900E	SCAF11_ENST00000549162.1_Missense_Mutation_p.D708E|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000465950.1_Missense_Mutation_p.D585E|SCAF11_ENST00000419565.2_Missense_Mutation_p.D900E	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	900	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						CTGGGGAAGAATCTTTCACTC	0.448																																																	0													126.0	131.0	129.0					12																	46320784		2203	4300	6503	SO:0001583	missense	0			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.2700T>A	12.37:g.46320784A>T	ENSP00000358374:p.Asp900Glu		A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.D900E	ENST00000369367.3	37	c.2700	CCDS8748.2	12	.	.	.	.	.	.	.	.	.	.	A	18.22	3.576372	0.65878	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T;T	0.57107	1.02;1.5;1.01;1.5;0.42	5.93	0.723	0.18231	.	0.078405	0.53938	N	0.000043	T	0.40932	0.1137	L	0.54323	1.7	0.29618	N	0.846412	B;B	0.27997	0.197;0.049	B;B	0.28465	0.09;0.026	T	0.27640	-1.0068	10	0.28530	T	0.3	-15.4289	6.4374	0.21831	0.5481:0.1246:0.3273:0.0	.	708;900	F8VXG7;Q99590	.;SCAFB_HUMAN	E	585;900;708;900;840	ENSP00000449812:D585E;ENSP00000358374:D900E;ENSP00000448864:D708E;ENSP00000413036:D900E;ENSP00000446746:D840E	ENSP00000358374:D900E	D	-	3	2	SCAF11	44607051	0.090000	0.21635	0.970000	0.41538	0.992000	0.81027	0.133000	0.15912	0.132000	0.18615	0.533000	0.62120	GAT	SCAF11	-	NULL	ENSG00000139218		0.448	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF11	HGNC	protein_coding	OTTHUMT00000313992.2	-	0.00	34	0	A	NM_004719		46320784	-1	tier1	-	no_errors	ENST00000369367	ensembl	human	known	74_37	missense	25.00	9	3	SNP	0.935	T
SCUBE3	222663	genome.wustl.edu	37	6	35216380	35216380	+	Missense_Mutation	SNP	G	G	C			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr6:35216380G>C	ENST00000274938.7	+	22	2880	c.2880G>C	c.(2878-2880)caG>caC	p.Q960H	SCUBE3_ENST00000394681.1_Missense_Mutation_p.Q976H	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CCCACCCCCAGAACTACTTCA	0.522																																																	0													146.0	138.0	141.0					6																	35216380		2203	4300	6503	SO:0001583	missense	0			AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.2880G>C	6.37:g.35216380G>C	ENSP00000274938:p.Gln960His			Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Thrombomodulin	p.Q976H	ENST00000274938.7	37	c.2928	CCDS4800.1	6	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902734	0.33628	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	T;D	0.83250	-1.27;-1.7	5.7	1.6	0.23607	.	0.165950	0.56097	D	0.000040	T	0.49795	0.1578	N	0.12182	0.205	0.41367	D	0.987466	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.50524	-0.8818	10	0.52906	T	0.07	.	7.4316	0.27131	0.208:0.1191:0.6728:0.0	.	976;960	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	H	976;960	ENSP00000378174:Q976H;ENSP00000274938:Q960H	ENSP00000274938:Q960H	Q	+	3	2	SCUBE3	35324358	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.007000	0.40883	0.752000	0.32923	0.655000	0.94253	CAG	SCUBE3	-	NULL	ENSG00000146197		0.522	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE3	HGNC	protein_coding	OTTHUMT00000040275.1		0.00	68	0	G	NM_152753		35216380	+1			no_errors	ENST00000394681	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	C
SH3BP5	9467	genome.wustl.edu	37	3	15297542	15297543	+	3'UTR	INS	-	-	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr3:15297542_15297543insA	ENST00000383791.3	-	0	1638_1639				SH3BP5_ENST00000253688.5_3'UTR|SH3BP5-AS1_ENST00000420195.1_RNA|SH3BP5_ENST00000426925.1_3'UTR|SH3BP5_ENST00000408919.3_3'UTR|SH3BP5-AS1_ENST00000413977.1_RNA|SH3BP5-AS1_ENST00000436602.1_RNA	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)						intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	protein kinase inhibitor activity (GO:0004860)			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						CAATGTTCTCCAGTTCCATGTA	0.396																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB005047	CCDS2625.2, CCDS43055.1	3p24.3	2008-07-10			ENSG00000131370	ENSG00000131370			10827	protein-coding gene	gene with protein product	"""SH3 binding protein"""	605612				9571151, 10339589	Standard	NM_004844		Approved	Sab	uc003bzp.2	O60239	OTTHUMG00000129859	ENST00000383791.3:c.*51->T	3.37:g.15297543_15297543dupA			B3KQW6|Q5JWV9	RNA	INS	-	NULL	ENST00000383791.3	37	NULL	CCDS2625.2	3																																																																																			SH3BP5-AS1	-	-	ENSG00000224660		0.396	SH3BP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BP5-AS1	HGNC	protein_coding	OTTHUMT00000340740.2		0.00	53	0	-	NM_004844		15297543	+1	tier1		no_errors	ENST00000420195	ensembl	human	known	74_37	rna	11.11	16	2	INS	0.086:0.104	A
SHMT1	6470	genome.wustl.edu	37	17	18250887	18250887	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr17:18250887G>T	ENST00000316694.3	-	5	576	c.442C>A	c.(442-444)Cac>Aac	p.H148N	SHMT1_ENST00000354098.3_Missense_Mutation_p.H148N|SHMT1_ENST00000539052.1_Missense_Mutation_p.H10N|SHMT1_ENST00000352886.6_Missense_Mutation_p.H148N	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	148					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|folic acid metabolic process (GO:0046655)|glycine biosynthetic process from serine (GO:0019264)|L-serine catabolic process (GO:0006565)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase biosynthetic process (GO:0009113)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	amino acid binding (GO:0016597)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Tetrahydrofolic acid(DB00116)	TGGGTCAGGTGGCCCCCATCC	0.537																																																	0													114.0	114.0	114.0					17																	18250887		2203	4300	6503	SO:0001583	missense	0				CCDS11196.1, CCDS11197.1, CCDS62112.1	17p11.2	2010-04-23			ENSG00000176974	ENSG00000176974	2.1.2.1		10850	protein-coding gene	gene with protein product	"""cytoplasmic serine hydroxymethyltransferase"", ""14 kDa protein"""	182144				8505317	Standard	NM_004169		Approved	CSHMT, SHMT, MGC15229, MGC24556	uc002gta.3	P34896	OTTHUMG00000059094	ENST00000316694.3:c.442C>A	17.37:g.18250887G>T	ENSP00000318868:p.His148Asn		B4DPM9|D3DXD0|Q96HY0|Q9UMD1|Q9UMD2	Missense_Mutation	SNP	pfam_Ser_HO-MeTrfase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase	p.H148N	ENST00000316694.3	37	c.442	CCDS11196.1	17	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922356	0.52653	.	.	ENSG00000176974	ENST00000316694;ENST00000352886;ENST00000539052;ENST00000354098;ENST00000395685	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	4.95	4.95	0.65309	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.84656	0.5520	H	0.97023	3.925	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	1.0;1.0;0.967;1.0	D	0.90242	0.4287	10	0.87932	D	0	-9.4568	18.577	0.91158	0.0:0.0:1.0:0.0	.	148;148;148;148	B4DZB5;A8MYA6;P34896-2;P34896	.;.;.;GLYC_HUMAN	N	148;148;10;148;148	ENSP00000318868:H148N;ENSP00000345881:H148N;ENSP00000440089:H10N;ENSP00000318805:H148N	ENSP00000318868:H148N	H	-	1	0	SHMT1	18191612	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.638000	0.98445	2.443000	0.82685	0.462000	0.41574	CAC	SHMT1	-	pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase	ENSG00000176974		0.537	SHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHMT1	HGNC	protein_coding	OTTHUMT00000130831.2		0.00	69	0	G	NM_004169		18250887	-1			no_errors	ENST00000316694	ensembl	human	known	74_37	missense	7.89	35	3	SNP	1.000	T
SIRT1	23411	genome.wustl.edu	37	10	69672363	69672363	+	Missense_Mutation	SNP	A	A	G			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr10:69672363A>G	ENST00000212015.6	+	8	1543	c.1490A>G	c.(1489-1491)tAt>tGt	p.Y497C	SIRT1_ENST00000403579.1_Missense_Mutation_p.Y194C|SIRT1_ENST00000406900.1_Missense_Mutation_p.Y194C|SIRT1_ENST00000432464.1_Missense_Mutation_p.Y202C	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	497	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.|Interaction with CCAR2.				angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						GGTGGTGAATATGCCAAACTT	0.378																																																	0													97.0	97.0	97.0					10																	69672363		2203	4300	6503	SO:0001583	missense	0			AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1"", ""sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"""			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.1490A>G	10.37:g.69672363A>G	ENSP00000212015:p.Tyr497Cys		Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Missense_Mutation	SNP	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	p.Y497C	ENST00000212015.6	37	c.1490	CCDS7273.1	10	.	.	.	.	.	.	.	.	.	.	A	17.45	3.392911	0.62066	.	.	ENSG00000096717	ENST00000212015;ENST00000432464;ENST00000406900;ENST00000403579	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	5.92	5.92	0.95590	.	0.259991	0.39341	N	0.001398	T	0.36991	0.0987	L	0.54323	1.7	0.58432	D	0.999998	D;D	0.76494	0.998;0.999	P;D	0.65987	0.865;0.94	T	0.05257	-1.0896	10	0.66056	D	0.02	-15.4482	16.037	0.80638	1.0:0.0:0.0:0.0	.	194;497	B0QZ35;Q96EB6	.;SIRT1_HUMAN	C	497;202;194;194	ENSP00000212015:Y497C;ENSP00000409208:Y202C;ENSP00000384508:Y194C;ENSP00000384063:Y194C	ENSP00000212015:Y497C	Y	+	2	0	SIRT1	69342369	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.487000	0.60293	2.267000	0.75376	0.528000	0.53228	TAT	SIRT1	-	pfscan_Ssirtuin_cat_dom	ENSG00000096717		0.378	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT1	HGNC	protein_coding	OTTHUMT00000048296.1	-	0.00	87	0	A			69672363	+1	tier1	-	no_errors	ENST00000212015	ensembl	human	known	74_37	missense	17.54	47	10	SNP	1.000	G
SLC16A14	151473	genome.wustl.edu	37	2	230911282	230911282	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr2:230911282C>T	ENST00000295190.4	-	4	1018	c.560G>A	c.(559-561)gGc>gAc	p.G187D		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		ATTCCTCCAGCCGTACTCTGC	0.582																																																	0													92.0	90.0	91.0					2																	230911282		2203	4300	6503	SO:0001583	missense	0			BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"""Solute carriers"""	26417	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 14"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 14"""				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.560G>A	2.37:g.230911282C>T	ENSP00000295190:p.Gly187Asp		A8KA08|Q53R92|Q96NI7	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.G187D	ENST00000295190.4	37	c.560	CCDS2473.1	2	.	.	.	.	.	.	.	.	.	.	C	19.96	3.922904	0.73213	.	.	ENSG00000163053	ENST00000295190;ENST00000457406;ENST00000412034	D;D;D	0.86627	-2.15;-2.15;-2.15	4.94	4.94	0.65067	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000007	D	0.92958	0.7759	M	0.70275	2.135	0.80722	D	1	P;D	0.89917	0.874;1.0	P;D	0.87578	0.824;0.998	D	0.92875	0.6318	10	0.51188	T	0.08	.	18.3575	0.90362	0.0:1.0:0.0:0.0	.	187;187	E7EMG7;Q7RTX9	.;MOT14_HUMAN	D	187	ENSP00000295190:G187D;ENSP00000400352:G187D;ENSP00000395775:G187D	ENSP00000295190:G187D	G	-	2	0	SLC16A14	230619526	0.996000	0.38824	0.921000	0.36526	0.687000	0.40016	5.056000	0.64287	2.557000	0.86248	0.655000	0.94253	GGC	SLC16A14	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000163053		0.582	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A14	HGNC	protein_coding	OTTHUMT00000256918.2		0.00	43	0	C	NM_152527		230911282	-1			no_errors	ENST00000295190	ensembl	human	known	74_37	missense	10.53	17	2	SNP	0.994	T
SLC17A6	57084	genome.wustl.edu	37	11	22396367	22396367	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr11:22396367G>T	ENST00000263160.3	+	9	1545	c.1108G>T	c.(1108-1110)Gca>Tca	p.A370S		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	370					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GGGACAAATTGCAGATTTTCT	0.383																																																	0													224.0	220.0	221.0					11																	22396367		2203	4300	6503	SO:0001583	missense	0			AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.1108G>T	11.37:g.22396367G>T	ENSP00000263160:p.Ala370Ser		A6NKS2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.A370S	ENST00000263160.3	37	c.1108	CCDS7856.1	11	.	.	.	.	.	.	.	.	.	.	G	34	5.375581	0.95923	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.56444	0.46	5.95	5.95	0.96441	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.67173	0.2865	L	0.42581	1.335	0.80722	D	1	D	0.67145	0.996	D	0.69479	0.964	T	0.63712	-0.6575	10	0.46703	T	0.11	.	20.3728	0.98895	0.0:0.0:1.0:0.0	.	370	Q9P2U8	VGLU2_HUMAN	S	370;258	ENSP00000263160:A370S	ENSP00000263160:A370S	A	+	1	0	SLC17A6	22352943	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.424000	0.97464	2.826000	0.97356	0.579000	0.79373	GCA	SLC17A6	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000091664		0.383	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A6	HGNC	protein_coding	OTTHUMT00000387671.1	-	0.00	81	0	G	NM_020346		22396367	+1	tier1	-	no_errors	ENST00000263160	ensembl	human	known	74_37	missense	42.86	20	15	SNP	1.000	T
SLC20A2	6575	genome.wustl.edu	37	8	42297137	42297137	+	Silent	SNP	T	T	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr8:42297137T>A	ENST00000342228.3	-	7	1134	c.765A>T	c.(763-765)gtA>gtT	p.V255V	SLC20A2_ENST00000520179.1_Silent_p.V255V|SLC20A2_ENST00000520262.1_Silent_p.V255V	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	255					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TTTCGTCAGATACTCGTGATA	0.408																																																	0													139.0	129.0	132.0					8																	42297137		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"""Solute carriers"""	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.765A>T	8.37:g.42297137T>A				Silent	SNP	pfam_Phos_transporter	p.V255	ENST00000342228.3	37	c.765	CCDS6132.1	8																																																																																			SLC20A2	-	pfam_Phos_transporter	ENSG00000168575		0.408	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC20A2	HGNC	protein_coding	OTTHUMT00000377578.1	-	0.00	44	0	T			42297137	-1	tier1	-	no_errors	ENST00000342228	ensembl	human	known	74_37	silent	17.39	19	4	SNP	0.000	A
SLC39A12	221074	genome.wustl.edu	37	10	18250587	18250587	+	Missense_Mutation	SNP	A	A	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr10:18250587A>T	ENST00000377369.2	+	3	612	c.339A>T	c.(337-339)agA>agT	p.R113S	SLC39A12_ENST00000539911.1_5'UTR|SLC39A12_ENST00000377374.4_Missense_Mutation_p.R113S|SLC39A12_ENST00000377371.3_Missense_Mutation_p.R113S	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	113					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TGGTCCAGAGAGTTTCTCTTC	0.363																																																	0													98.0	103.0	101.0					10																	18250587		2203	4300	6503	SO:0001583	missense	0				CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.339A>T	10.37:g.18250587A>T	ENSP00000366586:p.Arg113Ser		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	pfam_ZIP	p.R113S	ENST00000377369.2	37	c.339	CCDS44362.1	10	.	.	.	.	.	.	.	.	.	.	A	19.69	3.875047	0.72180	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000425219	T;T;T	0.25085	1.82;1.82;1.82	5.43	-0.203	0.13204	.	0.363384	0.28214	N	0.016178	T	0.40247	0.1109	M	0.73598	2.24	0.80722	D	1	D;D;D	0.71674	0.991;0.998;0.991	D;D;D	0.63877	0.913;0.919;0.913	T	0.18650	-1.0330	10	0.87932	D	0	-10.8128	5.3237	0.15895	0.6616:0.0:0.2188:0.1196	.	113;113;113	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	S	113;113;113;33	ENSP00000366586:R113S;ENSP00000366591:R113S;ENSP00000366588:R113S	ENSP00000366586:R113S	R	+	3	2	SLC39A12	18290593	0.999000	0.42202	0.952000	0.39060	0.953000	0.61014	0.660000	0.25009	-0.282000	0.09128	-0.256000	0.11100	AGA	SLC39A12	-	NULL	ENSG00000148482		0.363	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC39A12	HGNC	protein_coding		-	0.00	38	0	A	NM_152725		18250587	+1	tier1	-	no_errors	ENST00000377369	ensembl	human	known	74_37	missense	33.33	20	10	SNP	1.000	T
SLC41A3	54946	genome.wustl.edu	37	3	125775343	125775343	+	Intron	SNP	C	C	T	rs367939630		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr3:125775343C>T	ENST00000315891.6	-	3	512				SLC41A3_ENST00000508835.1_Intron|SLC41A3_ENST00000514023.1_Intron|RP11-158I23.1_ENST00000508263.1_RNA|SLC41A3_ENST00000346785.5_Intron|SLC41A3_ENST00000383598.2_Missense_Mutation_p.R18Q|SLC41A3_ENST00000360370.4_Intron	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		GCTGAAGCCTCGCAGCTTCTT	0.582																																																	0								C	,,GLN/ARG,,	0,4406		0,0,2203	90.0	78.0	82.0		,,53,,	5.2	1.0	3		82	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,missense,intron,intron	SLC41A3	NM_001008485.1,NM_001008486.1,NM_001008487.1,NM_001164475.1,NM_017836.3	,,43,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	,,18/462,,	125775343	1,13005	2203	4300	6503	SO:0001627	intron_variant	0				CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544		"""Solute carriers"""	31046	protein-coding gene	gene with protein product		610803					Standard	NM_001164475		Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.274-5450G>A	3.37:g.125775343C>T			A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Missense_Mutation	SNP	pfam_SLC41_membr_dom	p.R18Q	ENST00000315891.6	37	c.53	CCDS33843.1	3	.	.	.	.	.	.	.	.	.	.	C	34	5.370841	0.95923	0.0	1.16E-4	ENSG00000114544	ENST00000383598;ENST00000513723	T;T	0.41758	1.41;0.99	5.2	5.2	0.72013	.	.	.	.	.	T	0.47451	0.1446	N	0.12961	0.28	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.46830	-0.9163	9	0.33141	T	0.24	.	16.213	0.82185	0.0:1.0:0.0:0.0	.	18	Q96GZ6-7	.	Q	18;96	ENSP00000373092:R18Q;ENSP00000425373:R96Q	ENSP00000373092:R18Q	R	-	2	0	SLC41A3	127258033	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	5.415000	0.66411	2.419000	0.82065	0.585000	0.79938	CGA	SLC41A3	-	NULL	ENSG00000114544		0.582	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	SLC41A3	HGNC	protein_coding	OTTHUMT00000370886.1	-	0.00	36	0	C	NM_017836		125775343	-1	tier1	-	no_errors	ENST00000383598	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T
SLC9C2	284525	genome.wustl.edu	37	1	173504975	173504975	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:173504975G>T	ENST00000367714.3	-	15	2191	c.1769C>A	c.(1768-1770)cCa>cAa	p.P590Q	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Intron	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	590					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TTACTCAGGTGGAATAAAATG	0.259																																																	0													36.0	42.0	40.0					1																	173504975		2156	4223	6379	SO:0001583	missense	0			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1769C>A	1.37:g.173504975G>T	ENSP00000356687:p.Pro590Gln		Q86UF3	Missense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.P590Q	ENST00000367714.3	37	c.1769	CCDS1308.1	1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.491257	0.44249	.	.	ENSG00000162753	ENST00000367714	T	0.05081	3.5	5.81	-2.14	0.07123	.	0.776613	0.10934	N	0.618043	T	0.02571	0.0078	L	0.42245	1.32	0.09310	N	1	P	0.49961	0.93	P	0.44732	0.459	T	0.39820	-0.9595	10	0.30078	T	0.28	1.9265	12.5711	0.56337	0.2806:0.0:0.7194:0.0	.	590	Q5TAH2	S9A11_HUMAN	Q	590	ENSP00000356687:P590Q	ENSP00000356687:P590Q	P	-	2	0	SLC9A11	171771598	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	-0.039000	0.12124	-0.327000	0.08551	-0.331000	0.08364	CCA	SLC9C2	-	NULL	ENSG00000162753		0.259	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C2	HGNC	protein_coding	OTTHUMT00000084205.1	-	0.00	112	0	G	NM_178527		173504975	-1	tier1	-	no_errors	ENST00000367714	ensembl	human	known	74_37	missense	8.57	64	6	SNP	0.000	T
SMG1	23049	genome.wustl.edu	37	16	18865097	18865097	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr16:18865097G>T	ENST00000446231.2	-	31	4988	c.4576C>A	c.(4576-4578)Ctg>Atg	p.L1526M	SMG1_ENST00000389467.3_Missense_Mutation_p.L1526M			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1526	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GCCAGTGTCAGAATTGATTTA	0.428																																																	0													100.0	88.0	92.0					16																	18865097		1885	4121	6006	SO:0001583	missense	0			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.4576C>A	16.37:g.18865097G>T	ENSP00000402515:p.Leu1526Met		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L1526M	ENST00000446231.2	37	c.4576	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925752	0.73213	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.02140	4.44;4.43	5.24	2.25	0.28309	PIK-related kinase (1);Armadillo-type fold (1);	0.000000	0.45126	D	0.000395	T	0.08537	0.0212	L	0.57536	1.79	0.33386	D	0.57549	D	0.71674	0.998	D	0.77557	0.99	T	0.03630	-1.1018	10	0.87932	D	0	.	10.8119	0.46551	0.2061:0.0:0.7939:0.0	.	1526	Q96Q15	SMG1_HUMAN	M	1526	ENSP00000402515:L1526M;ENSP00000374118:L1526M	ENSP00000374118:L1526M	L	-	1	2	SMG1	18772598	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.689000	0.61723	0.331000	0.23511	-0.215000	0.12644	CTG	SMG1	-	superfamily_ARM-type_fold,pfscan_PIK_FAT	ENSG00000157106		0.428	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	-	0.00	51	0	G	NM_015092		18865097	-1	tier1	-	no_errors	ENST00000389467	ensembl	human	known	74_37	missense	10.34	26	3	SNP	1.000	T
SNHG14	104472715	genome.wustl.edu	37	15	25330543	25330543	+	RNA	SNP	G	G	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr15:25330543G>A	ENST00000546682.1	+	0	453				SNORD116-19_ENST00000384729.1_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-17_ENST00000383929.1_RNA|SNORD116-20_ENST00000384529.1_lincRNA|SNORD116-18_ENST00000383961.1_RNA|SNORD116-16_ENST00000384533.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		GATCGATGATGACTTCCTTAT	0.458																																																	0													219.0	197.0	203.0					15																	25330543		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.25330543G>A				RNA	SNP	-	NULL	ENST00000546682.1	37	NULL		15																																																																																			SNORD116-18	-	-	ENSG00000206688		0.458	SNHG14-022	KNOWN	basic	antisense	SNORD116-18	HGNC	processed_transcript	OTTHUMT00000408281.1	-	0.00	143	0	G			25330543	+1	tier1	-	no_errors	ENST00000383961	ensembl	human	known	74_37	rna	8.70	83	8	SNP	0.705	A
SNPH	9751	genome.wustl.edu	37	20	1277840	1277842	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr20:1277840_1277842delCAG	ENST00000381873.3	+	4	338_340	c.102_104delCAG	c.(100-105)ctcagc>ctc	p.S38del	SNPH_ENST00000381867.1_In_Frame_Del_p.S82del	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	38	Poly-Ser.				brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CCTCTTCGCTCAGCAGCAGCAGC	0.64																																																	0																																										SO:0001651	inframe_deletion	0				CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.102_104delCAG	20.37:g.1277849_1277851delCAG	ENSP00000371297:p.Ser38del		Q8IYI3	In_Frame_Del	DEL	NULL	p.S82in_frame_del	ENST00000381873.3	37	c.234_236	CCDS13012.1	20																																																																																			SNPH	-	NULL	ENSG00000101298		0.640	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNPH	HGNC	protein_coding	OTTHUMT00000145240.2		0.00	67	0	CAG	NM_014723		1277842	+1	tier1		no_errors	ENST00000381867	ensembl	human	known	74_37	in_frame_del	7.14	26	2	DEL	1.000:1.000:1.000	-
SNRNP200	23020	genome.wustl.edu	37	2	96944361	96944361	+	Silent	SNP	G	G	A	rs142524062		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr2:96944361G>A	ENST00000323853.5	-	38	5489	c.5412C>T	c.(5410-5412)atC>atT	p.I1804I	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1804					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.I1804I(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCTCGTCCTCGATGCTGATGC	0.582																																																	1	Substitution - coding silent(1)	large_intestine(1)						G		0,4406		0,0,2203	105.0	96.0	99.0		5412	-8.4	0.7	2	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SNRNP200	NM_014014.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1804/2137	96944361	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.5412C>T	2.37:g.96944361G>A			O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.I1804	ENST00000323853.5	37	c.5412	CCDS2020.1	2																																																																																			SNRNP200	-	NULL	ENSG00000144028		0.582	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP200	HGNC	protein_coding	OTTHUMT00000252846.2		0.00	30	0	G	NM_014014		96944361	-1			no_errors	ENST00000323853	ensembl	human	known	74_37	silent	14.29	12	2	SNP	0.052	A
MTCL1	23255	genome.wustl.edu	37	18	8819135	8819135	+	Frame_Shift_Del	DEL	A	A	-			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr18:8819135delA	ENST00000306329.11	+	11	3991	c.3991delA	c.(3991-3993)aagfs	p.K1331fs	SOGA2_ENST00000400050.3_Frame_Shift_Del_p.K971fs|SOGA2_ENST00000306285.7_Frame_Shift_Del_p.K337fs|SOGA2_ENST00000359865.3_Frame_Shift_Del_p.K1012fs|SOGA2_ENST00000517570.1_Frame_Shift_Del_p.K971fs|SOGA2_ENST00000518815.1_Frame_Shift_Del_p.K337fs																							GTCCAAGCTGAAGGAGTCGGA	0.627																																																	0													49.0	46.0	47.0					18																	8819135		2203	4300	6503	SO:0001589	frameshift_variant	0																														ENST00000306329.11:c.3991delA	18.37:g.8819135delA	ENSP00000305027:p.Lys1331fs			Frame_Shift_Del	DEL	pfam_SOGA	p.K1012fs	ENST00000306329.11	37	c.3034		18																																																																																			SOGA2	-	NULL	ENSG00000168502		0.627	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	SOGA2	HGNC	protein_coding	OTTHUMT00000444141.1		0.00	75	0	A			8819135	+1	tier1		no_errors	ENST00000359865	ensembl	human	known	74_37	frame_shift_del	13.33	13	2	DEL	1.000	-
SORT1	6272	genome.wustl.edu	37	1	109898040	109898040	+	Silent	SNP	G	G	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:109898040G>T	ENST00000256637.6	-	4	550	c.492C>A	c.(490-492)acC>acA	p.T164T	SORT1_ENST00000482236.1_5'UTR|SORT1_ENST00000538502.1_Silent_p.T28T	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	164					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TCCGAATAAAGGTGTTATTGA	0.398																																																	0													146.0	130.0	136.0					1																	109898040		2203	4300	6503	SO:0001819	synonymous_variant	0			BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.492C>A	1.37:g.109898040G>T			B4DWI3|C0JYZ0|Q8IZ49	Silent	SNP	pfam_BNR_rpt,smart_VPS10	p.T164	ENST00000256637.6	37	c.492	CCDS798.1	1																																																																																			SORT1	-	smart_VPS10	ENSG00000134243		0.398	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORT1	HGNC	protein_coding	OTTHUMT00000033179.1	-	0.00	75	0	G	NM_002959		109898040	-1	tier1	-	no_errors	ENST00000256637	ensembl	human	known	74_37	silent	6.78	55	4	SNP	1.000	T
SPATC1	375686	genome.wustl.edu	37	8	145095047	145095047	+	Missense_Mutation	SNP	C	C	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr8:145095047C>A	ENST00000377470.3	+	2	551	c.449C>A	c.(448-450)aCa>aAa	p.T150K	SPATC1_ENST00000447830.2_Missense_Mutation_p.T150K	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	150						centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGACCCCTAACAGGCACACTG	0.677																																																	0													41.0	33.0	36.0					8																	145095047		2202	4299	6501	SO:0001583	missense	0			BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.449C>A	8.37:g.145095047C>A	ENSP00000366690:p.Thr150Lys		B4DWW9|Q5U5I8|Q7Z6L7	Missense_Mutation	SNP	NULL	p.T150K	ENST00000377470.3	37	c.449	CCDS6413.2	8	.	.	.	.	.	.	.	.	.	.	C	8.563	0.878127	0.17395	.	.	ENSG00000186583	ENST00000377470;ENST00000447830	T;T	0.46063	0.88;0.88	4.57	-5.38	0.02673	.	4.406720	0.00424	N	0.000061	T	0.29684	0.0741	N	0.22421	0.69	0.09310	N	1	B;B	0.26195	0.144;0.008	B;B	0.21546	0.035;0.015	T	0.27706	-1.0066	10	0.42905	T	0.14	0.7377	11.5895	0.50938	0.0:0.1895:0.6362:0.1743	.	150;150	B4DWW9;Q76KD6	.;SPERI_HUMAN	K	150	ENSP00000366690:T150K;ENSP00000387613:T150K	ENSP00000366690:T150K	T	+	2	0	SPATC1	145167035	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.145000	0.03194	-0.922000	0.03789	-1.142000	0.01873	ACA	SPATC1	-	NULL	ENSG00000186583		0.677	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATC1	HGNC	protein_coding	OTTHUMT00000346926.1		0.00	40	0	C	NM_198572		145095047	+1			no_errors	ENST00000377470	ensembl	human	known	74_37	missense	11.54	23	3	SNP	0.000	A
SSC5D	284297	genome.wustl.edu	37	19	56001756	56001756	+	Silent	SNP	G	G	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:56001756G>A	ENST00000389623.6	+	5	590	c.567G>A	c.(565-567)acG>acA	p.T189T	SSC5D_ENST00000587166.1_Silent_p.T189T	NM_001144950.1	NP_001138422.1	A1L4H1	SRCRL_HUMAN	scavenger receptor cysteine rich family, 5 domains	189					defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterial lipoprotein (GO:0042494)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of interleukin-8 secretion (GO:2000483)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|intracellular (GO:0005622)|membrane (GO:0016020)	extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|skin(2)	4						CTCTGCTGACGACAGGAGCCC	0.706																																																	0													17.0	31.0	27.0					19																	56001756		692	1587	2279	SO:0001819	synonymous_variant	0				CCDS46196.1, CCDS59424.1	19q13.42	2014-07-09	2014-07-09		ENSG00000179954	ENSG00000179954			26641	protein-coding gene	gene with protein product	"""soluble scavenger with 5 domains"""		"""scavenger receptor cysteine rich domain containing (5 domains)"""			19535143	Standard	NM_001144950		Approved	FLJ35258	uc002qlg.4	A1L4H1		ENST00000389623.6:c.567G>A	19.37:g.56001756G>A			B5MDQ5|C7S7T9|C7S7U0|K7EP70	Silent	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.T189	ENST00000389623.6	37	c.567	CCDS46196.1	19																																																																																			SSC5D	-	NULL	ENSG00000179954		0.706	SSC5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSC5D	HGNC	protein_coding	OTTHUMT00000453345.2	-	0.00	38	0	G	XM_001718392		56001756	+1	tier1	-	no_errors	ENST00000389623	ensembl	human	known	74_37	silent	24.00	19	6	SNP	0.000	A
SSPO	23145	genome.wustl.edu	37	7	149474897	149474897	+	RNA	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr7:149474897C>T	ENST00000378016.2	+	0	696							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGCTGTCCACCTAACACCCG	0.677																																																	0													15.0	18.0	17.0					7																	149474897		2014	4146	6160			0			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149474897C>T			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.677	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript			0.00	29	0	C			149474897	+1			no_errors	ENST00000262089	ensembl	human	known	74_37	rna	14.29	18	3	SNP	1.000	T
SUFU	51684	genome.wustl.edu	37	10	104356918	104356918	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr10:104356918G>A	ENST00000369902.3	+	7	944	c.778G>A	c.(778-780)Gag>Aag	p.E260K	SUFU_ENST00000423559.2_Missense_Mutation_p.E260K|SUFU_ENST00000369899.2_Missense_Mutation_p.E260K|SUFU_ENST00000471000.1_3'UTR	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	260					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.T261fs*8(1)		breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		CAAAGGCATCGAGACAGATGG	0.562			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation		OREG0020482	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	suppressor of fused homolog (Drosophila)		O	1	Insertion - Frameshift(1)	central_nervous_system(1)											114.0	104.0	107.0					10																	104356918		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database		AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.778G>A	10.37:g.104356918G>A	ENSP00000358918:p.Glu260Lys	1381	Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Missense_Mutation	SNP	pfam_SUFU_C,pfam_SUFU-like_domain,pirsf_Suppressor_of_fused_euk	p.E260K	ENST00000369902.3	37	c.778	CCDS7537.1	10	.	.	.	.	.	.	.	.	.	.	G	22.4	4.289167	0.80914	.	.	ENSG00000107882	ENST00000369902;ENST00000369899;ENST00000423559	T;T;T	0.62498	0.02;0.02;0.02	6.03	6.03	0.97812	Suppressor of fused C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59838	0.2223	M	0.69823	2.125	0.80722	D	1	P;P;P	0.46621	0.623;0.569;0.881	B;B;B	0.30105	0.023;0.02;0.111	T	0.67677	-0.5609	10	0.52906	T	0.07	-17.0993	20.5568	0.99304	0.0:0.0:1.0:0.0	.	260;260;260	Q9UMX1;Q9UMX1-2;Q9UMX1-3	SUFU_HUMAN;.;.	K	260	ENSP00000358918:E260K;ENSP00000358915:E260K;ENSP00000411597:E260K	ENSP00000358915:E260K	E	+	1	0	SUFU	104346908	1.000000	0.71417	0.986000	0.45419	0.994000	0.84299	9.476000	0.97823	2.861000	0.98227	0.655000	0.94253	GAG	SUFU	-	pfam_SUFU_C,pirsf_Suppressor_of_fused_euk	ENSG00000107882		0.562	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUFU	HGNC	protein_coding	OTTHUMT00000050089.1	-	0.00	41	0	G	NM_016169		104356918	+1	tier1	-	no_errors	ENST00000369902	ensembl	human	known	74_37	missense	48.84	22	21	SNP	1.000	A
SUPT7L	9913	genome.wustl.edu	37	2	27880464	27880464	+	Silent	SNP	T	T	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr2:27880464T>A	ENST00000337768.5	-	4	1061	c.492A>T	c.(490-492)acA>acT	p.T164T	SUPT7L_ENST00000464789.2_Silent_p.T162T|SUPT7L_ENST00000406540.1_Silent_p.T162T|SUPT7L_ENST00000405491.1_Silent_p.T162T|SUPT7L_ENST00000404798.2_Silent_p.T29T	NM_001282729.1|NM_014860.1	NP_001269658.1|NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	164					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|maintenance of protein location in nucleus (GO:0051457)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					GGGCCAGGATTGTGGCCACTG	0.532																																																	0													41.0	43.0	42.0					2																	27880464		2000	4162	6162	SO:0001819	synonymous_variant	0			AF197954	CCDS42667.1, CCDS62885.1, CCDS62886.1	2p23.3	2008-02-05			ENSG00000119760	ENSG00000119760			30632	protein-coding gene	gene with protein product		612762				9872452, 11564863	Standard	NM_001282732		Approved	STAF65, gamma, KIAA0764, SPT7L	uc002rli.1	O94864	OTTHUMG00000151947	ENST00000337768.5:c.492A>T	2.37:g.27880464T>A			B4E3W3|Q6IB21|Q9H2T6	Silent	SNP	pfam_BTP,smart_BTP	p.T164	ENST00000337768.5	37	c.492	CCDS42667.1	2																																																																																			SUPT7L	-	pfam_BTP,smart_BTP	ENSG00000119760		0.532	SUPT7L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT7L	HGNC	protein_coding	OTTHUMT00000324568.1	-	0.00	44	0	T	NM_014860		27880464	-1	tier1	-	no_errors	ENST00000337768	ensembl	human	known	74_37	silent	17.86	23	5	SNP	0.875	A
SYCP2	10388	genome.wustl.edu	37	20	58496393	58496393	+	Frame_Shift_Del	DEL	A	A	-			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr20:58496393delA	ENST00000357552.3	-	4	365	c.140delT	c.(139-141)ttcfs	p.F47fs	SYCP2_ENST00000476314.1_5'UTR|SYCP2_ENST00000371001.2_Frame_Shift_Del_p.F47fs			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	47					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CACCTTGTGGAAAAACTGTTT	0.303																																																	0													59.0	55.0	56.0					20																	58496393		2200	4293	6493	SO:0001589	frameshift_variant	0			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.140delT	20.37:g.58496393delA	ENSP00000350162:p.Phe47fs		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Frame_Shift_Del	DEL	NULL	p.F47fs	ENST00000357552.3	37	c.140	CCDS13482.1	20																																																																																			SYCP2	-	NULL	ENSG00000196074		0.303	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2	HGNC	protein_coding	OTTHUMT00000079930.3		0.00	87	0	A	NM_014258		58496393	-1	tier1		no_errors	ENST00000357552	ensembl	human	known	74_37	frame_shift_del	5.26	36	2	DEL	0.988	-
SYCP2L	221711	genome.wustl.edu	37	6	10911079	10911079	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr6:10911079G>T	ENST00000283141.6	+	12	1191	c.895G>T	c.(895-897)Gct>Tct	p.A299S	SYCP2L_ENST00000543878.1_Missense_Mutation_p.A140S|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	299						nucleus (GO:0005634)		p.A299S(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TCCGTGTATTGCTGCTTTTGC	0.418																																																	1	Substitution - Missense(1)	kidney(1)											284.0	258.0	267.0					6																	10911079		1930	4132	6062	SO:0001583	missense	0			AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.895G>T	6.37:g.10911079G>T	ENSP00000283141:p.Ala299Ser		A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	NULL	p.A299S	ENST00000283141.6	37	c.895	CCDS43423.1	6	.	.	.	.	.	.	.	.	.	.	G	6.401	0.442178	0.12164	.	.	ENSG00000153157	ENST00000543878;ENST00000283141	T;T	0.39592	1.07;2.39	5.66	2.77	0.32553	.	0.221754	0.38272	N	0.001747	T	0.18635	0.0447	L	0.31420	0.93	0.49213	D	0.999766	P;P	0.45715	0.525;0.865	B;P	0.46585	0.116;0.521	T	0.02661	-1.1127	10	0.44086	T	0.13	-0.3115	5.8649	0.18768	0.1402:0.0:0.4763:0.3835	.	140;299	B4DFB8;Q5T4T6	.;SYC2L_HUMAN	S	140;299	ENSP00000440676:A140S;ENSP00000283141:A299S	ENSP00000283141:A299S	A	+	1	0	SYCP2L	11019065	0.102000	0.21896	0.656000	0.29637	0.721000	0.41392	0.196000	0.17176	0.721000	0.32231	0.591000	0.81541	GCT	SYCP2L	-	NULL	ENSG00000153157		0.418	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2L	HGNC	protein_coding	OTTHUMT00000039845.3		0.00	62	0	G	NM_194299		10911079	+1			no_errors	ENST00000283141	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.136	T
TBX5	6910	genome.wustl.edu	37	12	114793522	114793522	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:114793522G>T	ENST00000310346.4	-	9	2038	c.1372C>A	c.(1372-1374)Cag>Aag	p.Q458K	TBX5_ENST00000405440.2_Missense_Mutation_p.Q458K|TBX5_ENST00000349716.5_Missense_Mutation_p.Q408K	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	458				MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592). {ECO:0000305}.	apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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 positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		ACGGAGGTCTGGTGCTGGAAC	0.657																																					NSCLC(152;1358 1980 4050 23898 40356)												0													27.0	30.0	29.0					12																	114793522		2203	4300	6503	SO:0001583	missense	0			U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1372C>A	12.37:g.114793522G>T	ENSP00000309913:p.Gln458Lys		A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.Q458K	ENST00000310346.4	37	c.1372	CCDS9173.1	12	.	.	.	.	.	.	.	.	.	.	G	6.378	0.437893	0.12104	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440	T;T;T	0.52526	0.66;0.66;0.66	5.42	4.5	0.54988	.	0.972475	0.08513	N	0.934674	T	0.42653	0.1212	L	0.32530	0.975	0.80722	D	1	B	0.22800	0.075	B	0.21151	0.033	T	0.06127	-1.0844	10	0.33940	T	0.23	.	15.8789	0.79189	0.0:0.1359:0.8641:0.0	.	458	Q99593	TBX5_HUMAN	K	408;458;355;458	ENSP00000337723:Q408K;ENSP00000309913:Q458K;ENSP00000384152:Q458K	ENSP00000309913:Q458K	Q	-	1	0	TBX5	113277905	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.506000	0.81665	1.233000	0.43693	0.655000	0.94253	CAG	TBX5	-	NULL	ENSG00000089225		0.657	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TBX5	HGNC	protein_coding	OTTHUMT00000388297.1		0.00	95	0	G	NM_080717		114793522	-1			no_errors	ENST00000310346	ensembl	human	known	74_37	missense	7.14	39	3	SNP	1.000	T
TCEB3	6924	genome.wustl.edu	37	1	24078325	24078325	+	Silent	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:24078325C>T	ENST00000418390.2	+	4	1579	c.1308C>T	c.(1306-1308)taC>taT	p.Y436Y	TCEB3_ENST00000609199.1_Silent_p.Y410Y	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	436					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TTGAATCCTACCTCAGCTATG	0.418											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													112.0	130.0	124.0					1																	24078325		2202	4300	6502	SO:0001819	synonymous_variant	0			L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.1308C>T	1.37:g.24078325C>T		768	B2R7Q8|Q8IXH1	Silent	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom	p.Y436	ENST00000418390.2	37	c.1308	CCDS239.2	1																																																																																			TCEB3	-	NULL	ENSG00000011007		0.418	TCEB3-001	KNOWN	basic|CCDS	protein_coding	TCEB3	HGNC	protein_coding	OTTHUMT00000008230.2	-	0.00	63	0	C	NM_003198		24078325	+1	tier1	-	no_errors	ENST00000418390	ensembl	human	known	74_37	silent	11.11	40	5	SNP	1.000	T
TCF3	6929	genome.wustl.edu	37	19	1612273	1612273	+	Silent	SNP	C	C	T	rs372813564		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:1612273C>T	ENST00000344749.5	-	18	1812	c.1746G>A	c.(1744-1746)gcG>gcA	p.A582A	TCF3_ENST00000395423.3_Intron|TCF3_ENST00000588136.1_Silent_p.A582A|TCF3_ENST00000262965.5_Intron|TCF3_ENST00000453954.2_Silent_p.A497A	NM_001136139.2	NP_001129611.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTGGTCTGCGCTTTGTCCG	0.672			T	"""PBX1, HLF, TFPT"""	pre B-ALL																																			Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	0													61.0	58.0	59.0					19																	1612273		1568	3582	5150	SO:0001819	synonymous_variant	0			M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"""Basic helix-loop-helix proteins"""	11633	protein-coding gene	gene with protein product	"""transcription factor E2-alpha"", ""immunoglobulin transcription factor 1"", ""kappa-E2-binding factor"", ""E2A immunoglobulin enhancer-binding factor E12/E47"", ""VDR interacting repressor"""	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000344749.5:c.1746G>A	19.37:g.1612273C>T			Q53R97|Q6PD70|Q9NP00	Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.A582	ENST00000344749.5	37	c.1746	CCDS45899.1	19																																																																																			TCF3	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	ENSG00000071564		0.672	TCF3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCF3	HGNC	protein_coding	OTTHUMT00000449375.1	-	0.00	34	0	C	NM_003200		1612273	-1	tier1	-	no_errors	ENST00000344749	ensembl	human	known	74_37	silent	17.39	19	4	SNP	0.996	T
TENM1	10178	genome.wustl.edu	37	X	123870827	123870827	+	Silent	SNP	G	G	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chrX:123870827G>A	ENST00000371130.3	-	4	819	c.756C>T	c.(754-756)agC>agT	p.S252S	TENM1_ENST00000422452.2_Silent_p.S252S	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	252	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ATGGTATGTTGCTGTTCAGGA	0.498																																																	0													205.0	185.0	192.0					X																	123870827		2203	4300	6503	SO:0001819	synonymous_variant	0			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.756C>T	X.37:g.123870827G>A			B2RTR5|Q5JZ17	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.S252	ENST00000371130.3	37	c.756	CCDS14609.1	X																																																																																			TENM1	-	pfam_Ten_N	ENSG00000009694		0.498	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	-	0.00	27	0	G	NM_014253		123870827	-1	tier1	-	no_errors	ENST00000422452	ensembl	human	known	74_37	silent	17.65	14	3	SNP	1.000	A
TESK2	10420	genome.wustl.edu	37	1	45810676	45810676	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:45810676G>T	ENST00000372086.3	-	11	1952	c.1552C>A	c.(1552-1554)Ctc>Atc	p.L518I	TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Missense_Mutation_p.L489I|TESK2_ENST00000538496.1_Missense_Mutation_p.L435I|TESK2_ENST00000341771.6_Missense_Mutation_p.L489I	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	518					actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					TCTTCCTGGAGAATGGAGCAG	0.557																																																	0													128.0	129.0	129.0					1																	45810676		1892	4125	6017	SO:0001583	missense	0			AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.1552C>A	1.37:g.45810676G>T	ENSP00000361158:p.Leu518Ile		Q5T422|Q5T423|Q8N520|Q9Y3Q6	Missense_Mutation	SNP	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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L518I	ENST00000372086.3	37	c.1552	CCDS41323.1	1	.	.	.	.	.	.	.	.	.	.	G	6.609	0.480716	0.12581	.	.	ENSG00000070759	ENST00000372084;ENST00000372086;ENST00000372083;ENST00000341771;ENST00000538496	T;T;T;T	0.74526	-0.69;-0.58;-0.69;-0.85	5.5	-0.808	0.10868	.	0.785958	0.11746	N	0.533560	T	0.47619	0.1455	N	0.08118	0	0.09310	N	0.999994	B;B	0.19817	0.039;0.023	B;B	0.15870	0.014;0.006	T	0.32666	-0.9898	10	0.51188	T	0.08	2.0196	2.7268	0.05216	0.3902:0.1087:0.3899:0.1112	.	489;518	Q96S53-3;Q96S53	.;TESK2_HUMAN	I	489;518;502;489;435	ENSP00000361156:L489I;ENSP00000361158:L518I;ENSP00000343940:L489I;ENSP00000441746:L435I	ENSP00000343940:L489I	L	-	1	0	TESK2	45583263	0.000000	0.05858	0.045000	0.18777	0.633000	0.38033	-0.533000	0.06157	-0.055000	0.13244	0.650000	0.86243	CTC	TESK2	-	NULL	ENSG00000070759		0.557	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TESK2	HGNC	protein_coding	OTTHUMT00000020523.1		0.00	32	0	G	NM_007170		45810676	-1			no_errors	ENST00000372086	ensembl	human	known	74_37	missense	12.50	14	2	SNP	0.002	T
TGS1	96764	genome.wustl.edu	37	8	56737156	56737156	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr8:56737156G>T	ENST00000260129.5	+	13	2933	c.2456G>T	c.(2455-2457)gGg>gTg	p.G819V		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	819	Sufficient for catalytic activity.				7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			TCCTTAGCTGGGCCTGGAGGG	0.388																																					Esophageal Squamous(34;275 823 4842 34837 48447)												0													134.0	112.0	119.0					8																	56737156		2203	4300	6503	SO:0001583	missense	0			AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.2456G>T	8.37:g.56737156G>T	ENSP00000260129:p.Gly819Val		A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	pfam_RNA_cap_Gua-N2-MeTrfase,pfam_RNA_methylase_dom,pfam_tRNA_Trfase_Trm5/Tyw2	p.G819V	ENST00000260129.5	37	c.2456	CCDS34894.1	8	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710323	0.89018	.	.	ENSG00000137574	ENST00000260129	T	0.42513	0.97	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.70762	0.3261	M	0.89353	3.025	0.80722	D	1	D	0.69078	0.997	D	0.68192	0.956	T	0.76299	-0.3010	10	0.87932	D	0	-19.8299	18.5442	0.91040	0.0:0.0:1.0:0.0	.	819	Q96RS0	TGS1_HUMAN	V	819	ENSP00000260129:G819V	ENSP00000260129:G819V	G	+	2	0	TGS1	56899710	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.593000	0.90832	2.687000	0.91594	0.655000	0.94253	GGG	TGS1	-	pfam_RNA_cap_Gua-N2-MeTrfase	ENSG00000137574		0.388	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGS1	HGNC	protein_coding	OTTHUMT00000378152.1		0.00	127	0	G	NM_024831		56737156	+1			no_errors	ENST00000260129	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T
THBS2	7058	genome.wustl.edu	37	6	169622427	169622427	+	Silent	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr6:169622427C>T	ENST00000366787.3	-	20	3387	c.3138G>A	c.(3136-3138)acG>acA	p.T1046T	THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1046	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		AGTAGGTCTGCGTCACCTGCT	0.602																																					Esophageal Squamous(91;219 1934 18562 44706)												0													65.0	56.0	59.0					6																	169622427		2202	4300	6502	SO:0001819	synonymous_variant	0				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.3138G>A	6.37:g.169622427C>T			A6H8N1|A7E232|Q5RI52	Silent	SNP	pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.T1046	ENST00000366787.3	37	c.3138	CCDS34574.1	6																																																																																			THBS2	-	pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf	ENSG00000186340		0.602	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS2	HGNC	protein_coding	OTTHUMT00000105439.1	-	0.00	63	0	C	NM_003247		169622427	-1	tier1	-	no_errors	ENST00000366787	ensembl	human	known	74_37	silent	47.62	22	20	SNP	0.064	T
THRA	7067	genome.wustl.edu	37	17	38233778	38233778	+	Missense_Mutation	SNP	C	C	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr17:38233778C>A	ENST00000264637.4	+	4	719	c.139C>A	c.(139-141)Ctg>Atg	p.L47M	THRA_ENST00000546243.1_Missense_Mutation_p.L47M|THRA_ENST00000394121.4_Missense_Mutation_p.L47M|THRA_ENST00000450525.2_Missense_Mutation_p.L47M|THRA_ENST00000584985.1_Missense_Mutation_p.L47M	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	47	Modulating.				cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CCCTAGTTACCTGGACAAAGA	0.542																																																	0													197.0	159.0	171.0					17																	38233778		2203	4300	6503	SO:0001583	missense	0			J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"""Nuclear hormone receptors"""	11796	protein-coding gene	gene with protein product		190120	"""thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)"", ""thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"""	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.139C>A	17.37:g.38233778C>A	ENSP00000264637:p.Leu47Met		A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.L47M	ENST00000264637.4	37	c.139	CCDS11360.1	17	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016020	0.75161	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.94232	-3.24;-3.24;-3.38;-3.38	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000002	D	0.94241	0.8151	L	0.36672	1.1	0.53005	D	0.999962	P;P;D	0.71674	0.854;0.887;0.998	P;P;D	0.80764	0.665;0.593;0.994	D	0.93862	0.7154	10	0.54805	T	0.06	.	12.7421	0.57259	0.0:0.9208:0.0:0.0792	.	47;47;47	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	M	47	ENSP00000377679:L47M;ENSP00000264637:L47M;ENSP00000395641:L47M;ENSP00000443972:L47M	ENSP00000264637:L47M	L	+	1	2	THRA	35487304	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.085000	0.41634	2.707000	0.92482	0.484000	0.47621	CTG	THRA	-	prints_ThyrH_rcpt	ENSG00000126351		0.542	THRA-001	KNOWN	basic|CCDS	protein_coding	THRA	HGNC	protein_coding	OTTHUMT00000257160.2	-	0.00	47	0	C			38233778	+1	tier1	-	no_errors	ENST00000264637	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	A
TLK2	11011	genome.wustl.edu	37	17	60679450	60679450	+	Missense_Mutation	SNP	A	A	G			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr17:60679450A>G	ENST00000326270.9	+	20	2102	c.1834A>G	c.(1834-1836)Aca>Gca	p.T612A	TLK2_ENST00000343388.7_Missense_Mutation_p.T558A|TLK2_ENST00000582809.1_Missense_Mutation_p.T441A|TLK2_ENST00000542523.1_Missense_Mutation_p.T558A|TLK2_ENST00000346027.5_Missense_Mutation_p.T590A	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	612	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						GATAAAAATTACAGATTTTGG	0.348																																																	0													96.0	92.0	93.0					17																	60679450		2203	4300	6503	SO:0001583	missense	0			AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.1834A>G	17.37:g.60679450A>G	ENSP00000316512:p.Thr612Ala		D3DU07|Q9UKI7|Q9Y4F7	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.T612A	ENST00000326270.9	37	c.1834		17	.	.	.	.	.	.	.	.	.	.	A	15.09	2.729371	0.48833	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.78	5.78	0.91487	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.15003	0.0362	N	0.01048	-1.04	0.80722	D	1	D;P;B;B	0.59357	0.985;0.701;0.311;0.216	P;B;B;B	0.62491	0.903;0.409;0.146;0.19	T	0.55256	-0.8169	10	0.87932	D	0	.	15.2878	0.73843	1.0:0.0:0.0:0.0	.	612;558;590;590	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	A	590;558;612;558	ENSP00000275780:T590A;ENSP00000340800:T558A;ENSP00000316512:T612A;ENSP00000442311:T558A	ENSP00000316512:T612A	T	+	1	0	TLK2	58033182	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.201000	0.70794	0.459000	0.35465	ACA	TLK2	-	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	ENSG00000146872		0.348	TLK2-004	KNOWN	basic	protein_coding	TLK2	HGNC	protein_coding	OTTHUMT00000445140.1		0.00	42	0	A	NM_006852		60679450	+1			no_errors	ENST00000326270	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	G
TMEM132D	121256	genome.wustl.edu	37	12	129559152	129559152	+	Silent	SNP	C	C	T	rs200137658		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:129559152C>T	ENST00000422113.2	-	9	2894	c.2568G>A	c.(2566-2568)acG>acA	p.T856T	TMEM132D_ENST00000389441.4_Silent_p.T394T	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	856					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.T856T(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ACCTGTCTGTCGTGGTGCCCC	0.552													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19313	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	lung(1)						C		0,4406		0,0,2203	97.0	96.0	96.0		2568	-8.4	0.0	12		96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TMEM132D	NM_133448.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		856/1100	129559152	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2568G>A	12.37:g.129559152C>T			Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	NULL	p.T856	ENST00000422113.2	37	c.2568	CCDS9266.1	12																																																																																			TMEM132D	-	NULL	ENSG00000151952		0.552	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	HGNC	protein_coding	OTTHUMT00000399592.1		0.00	45	0	C	NM_133448		129559152	-1			no_errors	ENST00000422113	ensembl	human	known	74_37	silent	8.00	23	2	SNP	0.002	T
TMEM215	401498	genome.wustl.edu	37	9	32784359	32784359	+	Missense_Mutation	SNP	G	G	A	rs377384669		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr9:32784359G>A	ENST00000342743.5	+	2	543	c.178G>A	c.(178-180)Gcc>Acc	p.A60T		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	60						integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						CATTGCCCTGGCCAGGAAAAC	0.592																																																	0													78.0	69.0	72.0					9																	32784359		2203	4300	6503	SO:0001583	missense	0				CCDS6530.1	9p21.1	2008-08-08			ENSG00000188133	ENSG00000188133			33816	protein-coding gene	gene with protein product							Standard	NM_212558		Approved		uc003zri.4	Q68D42	OTTHUMG00000129521	ENST00000342743.5:c.178G>A	9.37:g.32784359G>A	ENSP00000345468:p.Ala60Thr		Q6ZUU2	Missense_Mutation	SNP	NULL	p.A60T	ENST00000342743.5	37	c.178	CCDS6530.1	9	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754299	0.49362	.	.	ENSG00000188133	ENST00000342743	.	.	.	5.05	5.05	0.67936	.	0.082584	0.50627	D	0.000109	T	0.36193	0.0958	N	0.14661	0.345	0.44508	D	0.997451	P	0.39665	0.682	B	0.36418	0.224	T	0.28522	-1.0041	9	0.36615	T	0.2	-20.5701	15.8897	0.79286	0.0:0.0:1.0:0.0	.	60	Q68D42	TM215_HUMAN	T	60	.	ENSP00000345468:A60T	A	+	1	0	TMEM215	32774359	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.387000	0.59626	2.344000	0.79699	0.462000	0.41574	GCC	TMEM215	-	NULL	ENSG00000188133		0.592	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM215	HGNC	protein_coding	OTTHUMT00000251701.1	-	0.00	40	0	G	NM_212558		32784359	+1	tier1	-	no_errors	ENST00000342743	ensembl	human	known	74_37	missense	11.54	23	3	SNP	1.000	A
TOMM40L	84134	genome.wustl.edu	37	1	161200378	161200378	+	3'UTR	DEL	A	A	-	rs66513069	byFrequency	TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:161200378delA	ENST00000367988.3	+	0	2689				NR1I3_ENST00000367981.3_Intron|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000367980.2_Intron|NR1I3_ENST00000511676.1_Intron|NR1I3_ENST00000515621.1_Intron|NR1I3_ENST00000504010.1_Intron|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000367982.4_Intron|NR1I3_ENST00000367983.4_Intron|NR1I3_ENST00000428574.2_Intron|NR1I3_ENST00000367979.2_Intron|NR1I3_ENST00000412844.2_Intron|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000508740.1_Intron|NR1I3_ENST00000506209.1_3'UTR|NR1I3_ENST00000367984.4_Intron|NR1I3_ENST00000437437.2_Intron|NR1I3_ENST00000505005.1_Intron|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000479324.1_Intron|TOMM40L_ENST00000367987.1_3'UTR|NR1I3_ENST00000367985.3_Intron|NR1I3_ENST00000442691.2_Intron|NR1I3_ENST00000512372.1_Intron|TOMM40L_ENST00000474486.1_3'UTR	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like						ion transport (GO:0006811)|protein transport (GO:0015031)	mitochondrial outer membrane (GO:0005741)|pore complex (GO:0046930)|protein complex (GO:0043234)	porin activity (GO:0015288)			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGTACTGAATAAAAAAAAAAT	0.423																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS1227.1, CCDS65700.1	1q23.3	2008-02-05	2007-01-12		ENSG00000158882	ENSG00000158882			25756	protein-coding gene	gene with protein product			"""translocase of outer mitochondrial membrane 40 homolog-like (yeast)"""				Standard	NM_032174		Approved	FLJ12770, TOMM40B	uc001fzd.3	Q969M1	OTTHUMG00000034345	ENST00000367988.3:c.*1493A>-	1.37:g.161200378delA			B7Z4U0|D3DVG9	RNA	DEL	-	NULL	ENST00000367988.3	37	NULL	CCDS1227.1	1																																																																																			TOMM40L	-	-	ENSG00000158882		0.423	TOMM40L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM40L	HGNC	protein_coding	OTTHUMT00000083029.1		0.00	40	0	A	NM_032174		161200378	+1	tier1		no_errors	ENST00000474486	ensembl	human	known	74_37	rna	15.38	22	4	DEL	0.807	-
TONSL	4796	genome.wustl.edu	37	8	145665514	145665514	+	Missense_Mutation	SNP	C	C	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr8:145665514C>A	ENST00000409379.3	-	11	1399	c.1370G>T	c.(1369-1371)cGg>cTg	p.R457L	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	457	Glu-rich.				cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						ACTGAGCTCCCGTAGTCTGGT	0.642																																																	0													40.0	42.0	41.0					8																	145665514		2202	4296	6498	SO:0001583	missense	0				CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.1370G>T	8.37:g.145665514C>A	ENSP00000386239:p.Arg457Leu		B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.R457L	ENST00000409379.3	37	c.1370	CCDS34968.2	8	.	.	.	.	.	.	.	.	.	.	C	9.235	1.036741	0.19669	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.40476	1.03	5.7	2.06	0.26882	.	0.361808	0.32041	N	0.006677	T	0.17534	0.0421	N	0.08118	0	0.21719	N	0.999579	B	0.06786	0.001	B	0.09377	0.004	T	0.26292	-1.0107	10	0.08179	T	0.78	-16.3236	7.923	0.29857	0.0:0.2441:0.0:0.7559	.	457	Q96HA7	TONSL_HUMAN	L	457	ENSP00000386239:R457L	ENSP00000386239:R457L	R	-	2	0	TONSL	145636322	1.000000	0.71417	0.910000	0.35882	0.001000	0.01503	3.124000	0.50461	0.444000	0.26612	-1.021000	0.02439	CGG	TONSL	-	NULL	ENSG00000160949		0.642	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TONSL	HGNC	protein_coding	OTTHUMT00000329668.2	-	0.00	80	0	C	NM_013432		145665514	-1	tier1	-	no_errors	ENST00000409379	ensembl	human	known	74_37	missense	9.68	56	6	SNP	1.000	A
TOX4	9878	genome.wustl.edu	37	14	21961063	21961063	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr14:21961063G>A	ENST00000405508.1	+	8	1564	c.1288G>A	c.(1288-1290)Gct>Act	p.A430T	TOX4_ENST00000448790.2_Missense_Mutation_p.A407T|TOX4_ENST00000262709.3_Missense_Mutation_p.A430T			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	430	Gln/Pro-rich.|Poly-Ala.					chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		AGCAGCAGCTGCTGCTGCTGC	0.577																																																	0													64.0	74.0	70.0					14																	21961063		2201	4297	6498	SO:0001583	missense	0			AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1288G>A	14.37:g.21961063G>A	ENSP00000385102:p.Ala430Thr		B4DPY8|B4DSM0|E7EV69	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.A430T	ENST00000405508.1	37	c.1288	CCDS32043.1	14	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459512	0.43736	.	.	ENSG00000092203	ENST00000405508;ENST00000262709;ENST00000448790;ENST00000545559	T;T;T	0.11712	2.75;2.75;2.76	0.916	0.916	0.19373	.	0.421374	0.25009	N	0.033859	T	0.08313	0.0207	N	0.08118	0	0.22531	N	0.999016	P;D	0.57571	0.805;0.98	P;P	0.57009	0.483;0.811	T	0.23190	-1.0195	10	0.32370	T	0.25	.	4.9698	0.14110	0.0:0.0:1.0:0.0	.	407;430	B4DPY8;O94842	.;TOX4_HUMAN	T	430;430;407;358	ENSP00000385102:A430T;ENSP00000262709:A430T;ENSP00000393080:A407T	ENSP00000262709:A430T	A	+	1	0	TOX4	21030903	0.615000	0.27026	0.948000	0.38648	0.952000	0.60782	1.556000	0.36288	0.300000	0.22699	0.305000	0.20034	GCT	TOX4	-	NULL	ENSG00000092203		0.577	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOX4	HGNC	protein_coding	OTTHUMT00000317287.2	-	0.00	50	0	G	NM_014828		21961063	+1	tier1	-	no_errors	ENST00000262709	ensembl	human	known	74_37	missense	16.67	20	4	SNP	0.968	A
TP53	7157	genome.wustl.edu	37	17	7577515	7577517	+	In_Frame_Del	DEL	TGA	TGA	-	rs587781433		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	TGA	TGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr17:7577515_7577517delTGA	ENST00000269305.4	-	7	953_955	c.764_766delTCA	c.(763-768)atcaca>aca	p.I255del	TP53_ENST00000445888.2_In_Frame_Del_p.I255del|TP53_ENST00000455263.2_In_Frame_Del_p.I255del|TP53_ENST00000359597.4_In_Frame_Del_p.I255del|TP53_ENST00000420246.2_In_Frame_Del_p.I255del|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_In_Frame_Del_p.I255del	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	255	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I255S(10)|p.0?(8)|p.I255N(7)|p.I255del(7)|p.I255T(7)|p.T256A(3)|p.T256fs*89(3)|p.T256fs*8(2)|p.T256S(2)|p.I255I(2)|p.I255fs*8(1)|p.?(1)|p.I254fs*7(1)|p.I255M(1)|p.T256fs*90(1)|p.T256P(1)|p.T256del(1)|p.R249_T256delRPILTIIT(1)|p.T256fs*87(1)|p.T256fs*17(1)|p.I254_T256del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTTCCAGTGTGATGATGGTGAG	0.586		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	62	Substitution - Missense(31)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(4)|Substitution - coding silent(2)|Unknown(1)	breast(15)|ovary(7)|pancreas(6)|central_nervous_system(5)|bone(5)|upper_aerodigestive_tract(4)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|urinary_tract(3)|oesophagus(3)|lung(3)|thyroid(1)|stomach(1)|liver(1)|endometrium(1)|skin(1)																																								SO:0001651	inframe_deletion	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.764_766delTCA	17.37:g.7577518_7577520delTGA	ENSP00000269305:p.Ile255del		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	In_Frame_Del	DEL	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.I255in_frame_del	ENST00000269305.4	37	c.766_764	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.586	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0.00	45	0	TGA	NM_000546		7577517	-1	tier1		no_errors	ENST00000269305	ensembl	human	known	74_37	in_frame_del	56.67	13	17	DEL	1.000:1.000:1.000	-
TTN	7273	genome.wustl.edu	37	2	179408974	179408974	+	Silent	SNP	G	G	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr2:179408974G>A	ENST00000591111.1	-	295	91283	c.91059C>T	c.(91057-91059)agC>agT	p.S30353S	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Silent_p.S31994S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.S29426S|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.S23121S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.S23054S|TTN_ENST00000460472.2_Silent_p.S22929S|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30353	Fibronectin type-III 121. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGCTGTATTCGCTCATACCCT	0.413																																																	0													88.0	84.0	85.0					2																	179408974		1884	4115	5999	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.91059C>T	2.37:g.179408974G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.S29426	ENST00000591111.1	37	c.88278		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0.00	60	0	G	NM_133378		179408974	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	silent	10.00	27	3	SNP	0.997	A
TTN	7273	genome.wustl.edu	37	2	179460409	179460409	+	Silent	SNP	A	A	G			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr2:179460409A>G	ENST00000591111.1	-	245	52973	c.52749T>C	c.(52747-52749)cgT>cgC	p.R17583R	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Silent_p.R19224R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.R16656R|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.R10351R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.R10284R|TTN_ENST00000460472.2_Silent_p.R10159R			Q8WZ42	TITIN_HUMAN	titin	17583	Fibronectin type-III 27. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTCAGATTCACGCTTTTCAA	0.453																																																	0													84.0	77.0	79.0					2																	179460409		1919	4135	6054	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.52749T>C	2.37:g.179460409A>G			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R16656	ENST00000591111.1	37	c.49968		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.453	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0.00	92	0	A	NM_133378		179460409	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	silent	9.76	37	4	SNP	0.353	G
TUBBP5	643224	genome.wustl.edu	37	9	141069223	141069223	+	RNA	SNP	T	T	C			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr9:141069223T>C	ENST00000503395.1	+	0	922									tubulin, beta pseudogene 5																		actaaagacgtgggaggaagt	0.512																																																	0																																												0			AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141069223T>C				RNA	SNP	-	NULL	ENST00000503395.1	37	NULL		9																																																																																			TUBBP5	-	-	ENSG00000159247		0.512	TUBBP5-003	KNOWN	basic	processed_transcript	TUBBP5	HGNC	pseudogene	OTTHUMT00000373087.1	-	0.00	51	0	T	NR_027156		141069223	+1	tier1	-	no_errors	ENST00000503395	ensembl	human	known	74_37	rna	9.68	28	3	SNP	0.013	C
ULBP1	80329	genome.wustl.edu	37	6	150290442	150290442	+	Missense_Mutation	SNP	A	A	G			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr6:150290442A>G	ENST00000229708.3	+	3	614	c.571A>G	c.(571-573)Aag>Gag	p.K191E		NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1	191	MHC class I alpha-2 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		GGGGGATTGTAAGATGTGGCT	0.453																																																	0													100.0	102.0	101.0					6																	150290442		2203	4300	6503	SO:0001583	missense	0			AF304377	CCDS5223.1	6q25	2003-04-29			ENSG00000111981	ENSG00000111981			14893	protein-coding gene	gene with protein product		605697				11239445, 11827464	Standard	XM_005267151		Approved	RAET1I	uc003qnp.3	Q9BZM6	OTTHUMG00000015810	ENST00000229708.3:c.571A>G	6.37:g.150290442A>G	ENSP00000229708:p.Lys191Glu		Q5VY81|Q8IZW3|Q8IZX6	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	p.K191E	ENST00000229708.3	37	c.571	CCDS5223.1	6	.	.	.	.	.	.	.	.	.	.	a	10.70	1.425039	0.25639	.	.	ENSG00000111981	ENST00000367345;ENST00000229708	T;T	0.61158	0.13;0.13	2.13	-2.73	0.05950	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.30070	0.0753	L	0.46157	1.445	0.09310	N	1	P	0.39551	0.678	P	0.46299	0.511	T	0.37526	-0.9702	9	0.72032	D	0.01	.	0.1821	0.00124	0.364:0.2387:0.163:0.2343	.	191	Q9BZM6	N2DL1_HUMAN	E	191	ENSP00000356314:K191E;ENSP00000229708:K191E	ENSP00000229708:K191E	K	+	1	0	ULBP1	150332135	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	-0.614000	0.05604	-0.590000	0.05866	0.164000	0.16699	AAG	ULBP1	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	ENSG00000111981		0.453	ULBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULBP1	HGNC	protein_coding	OTTHUMT00000042677.2	-	0.00	65	0	A			150290442	+1	tier1	-	no_errors	ENST00000229708	ensembl	human	known	74_37	missense	13.04	20	3	SNP	0.000	G
UNC13B	10497	genome.wustl.edu	37	9	35389883	35389883	+	Missense_Mutation	SNP	G	G	A	rs147799499	byFrequency	TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr9:35389883G>A	ENST00000378495.3	+	24	3110	c.2888G>A	c.(2887-2889)cGg>cAg	p.R963Q	UNC13B_ENST00000378496.4_Missense_Mutation_p.R963Q|UNC13B_ENST00000396787.1_Missense_Mutation_p.R975Q	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	963					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.R963Q(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CCCAGCATTCGGAACCTGGAT	0.493													G|||	2	0.000399361	0.0008	0.0	5008	,	,		21650	0.0		0.0	False		,,,				2504	0.001																1	Substitution - Missense(1)	pancreas(1)						G	GLN/ARG	0,4406		0,0,2203	147.0	143.0	144.0		2888	2.4	1.0	9	dbSNP_134	144	2,8598	2.2+/-6.3	0,2,4298	yes	missense	UNC13B	NM_006377.3	43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	963/1592	35389883	2,13004	2203	4300	6503	SO:0001583	missense	0			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.2888G>A	9.37:g.35389883G>A	ENSP00000367756:p.Arg963Gln		Q5VYM8	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.R963Q	ENST00000378495.3	37	c.2888	CCDS6579.1	9	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	17.38	3.374962	0.61735	0.0	2.33E-4	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	D;D;D	0.83673	-1.63;-1.55;-1.75	5.24	2.38	0.29361	Calcium-dependent secretion activator (1);	0.328813	0.35739	N	0.003018	T	0.55465	0.1922	N	0.02539	-0.55	0.37039	D	0.897073	B;B	0.33777	0.043;0.425	B;B	0.22386	0.009;0.039	T	0.58504	-0.7625	10	0.41790	T	0.15	-9.5168	7.976	0.30155	0.3803:0.0:0.6197:0.0	.	963;963	F8W8M9;O14795	.;UN13B_HUMAN	Q	975;963;963;550	ENSP00000380006:R975Q;ENSP00000367756:R963Q;ENSP00000367757:R963Q	ENSP00000367756:R963Q	R	+	2	0	UNC13B	35379883	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.668000	0.37481	0.704000	0.31869	0.655000	0.94253	CGG	UNC13B	-	pfam_Ca-dep_secretion_activator	ENSG00000198722		0.493	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13B	HGNC	protein_coding	OTTHUMT00000052296.1		0.00	102	0	G	NM_006377		35389883	+1			no_errors	ENST00000378496	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	A
USP10	9100	genome.wustl.edu	37	16	84793868	84793868	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr16:84793868G>T	ENST00000219473.7	+	8	1654	c.1541G>T	c.(1540-1542)aGc>aTc	p.S514I	USP10_ENST00000570191.1_Missense_Mutation_p.S518I	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	514	USP.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						AACAAGTCAAGCCTGTCTGAA	0.428																																																	0													36.0	32.0	33.0					16																	84793868		1923	4113	6036	SO:0001583	missense	0			D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"""Ubiquitin-specific peptidases"""	12608	protein-coding gene	gene with protein product		609818	"""ubiquitin specific protease 10"""			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.1541G>T	16.37:g.84793868G>T	ENSP00000219473:p.Ser514Ile		B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Ataxin-2_C,pfscan_Peptidase_C19/C67	p.S518I	ENST00000219473.7	37	c.1553	CCDS45537.1	16	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498350	0.85069	.	.	ENSG00000103194	ENST00000219473;ENST00000397953	T	0.32515	1.45	5.0	5.0	0.66597	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.081037	0.85682	D	0.000000	T	0.49729	0.1574	L	0.52573	1.65	0.80722	D	1	D;P	0.89917	1.0;0.548	D;B	0.66351	0.943;0.398	T	0.50725	-0.8794	10	0.72032	D	0.01	-24.0651	17.6579	0.88183	0.0:0.0:1.0:0.0	.	518;514	Q14694-3;Q14694	.;UBP10_HUMAN	I	514;76	ENSP00000219473:S514I	ENSP00000219473:S514I	S	+	2	0	USP10	83351369	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.222000	0.95196	2.480000	0.83734	0.561000	0.74099	AGC	USP10	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000103194		0.428	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	USP10	HGNC	protein_coding	OTTHUMT00000433660.1	-	0.00	93	0	G			84793868	+1	tier1	-	no_errors	ENST00000570191	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T
UTP14C	9724	genome.wustl.edu	37	13	52603541	52603541	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr13:52603541C>T	ENST00000521776.2	+	2	1334	c.601C>T	c.(601-603)Cct>Tct	p.P201S	ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	201					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		AGTGACAGATCCTTTACTGAC	0.537																																																	0													83.0	85.0	84.0					13																	52603541		2203	4300	6503	SO:0001583	missense	0			D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"""KIAA0266"""	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.601C>T	13.37:g.52603541C>T	ENSP00000428619:p.Pro201Ser		Q5FWG3|Q92555	Missense_Mutation	SNP	pfam_SSU_processome_Utp14	p.P201S	ENST00000521776.2	37	c.601	CCDS31978.1	13	.	.	.	.	.	.	.	.	.	.	C	16.02	3.002915	0.54254	.	.	ENSG00000253797	ENST00000521776	T	0.16597	2.33	2.24	1.35	0.21983	.	0.048483	0.85682	D	0.000000	T	0.35128	0.0921	M	0.79475	2.455	0.53688	D	0.999976	D	0.76494	0.999	D	0.73708	0.981	T	0.14615	-1.0466	10	0.72032	D	0.01	-7.0617	6.5211	0.22275	0.0:0.8271:0.0:0.1729	.	201	Q5TAP6	UT14C_HUMAN	S	201	ENSP00000428619:P201S	ENSP00000428619:P201S	P	+	1	0	UTP14C	51501542	0.995000	0.38212	0.998000	0.56505	0.945000	0.59286	2.424000	0.44714	1.269000	0.44280	0.448000	0.29417	CCT	UTP14C	-	pfam_SSU_processome_Utp14	ENSG00000253797		0.537	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP14C	HGNC	protein_coding	OTTHUMT00000045049.2	-	0.00	60	0	C	NM_021645		52603541	+1	tier1	-	no_errors	ENST00000521776	ensembl	human	known	74_37	missense	44.44	10	8	SNP	1.000	T
UTRN	7402	genome.wustl.edu	37	6	144843168	144843168	+	Missense_Mutation	SNP	C	C	T	rs138139861		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr6:144843168C>T	ENST00000367545.3	+	39	5594	c.5594C>T	c.(5593-5595)tCa>tTa	p.S1865L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1865					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GGAATTAGATCATCACTTCTT	0.313																																																	0								C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	131.0	140.0	137.0		5594	4.8	0.0	6	dbSNP_134	137	0,8600		0,0,4300	no	missense	UTRN	NM_007124.2	145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	1865/3434	144843168	1,13005	2203	4300	6503	SO:0001583	missense	0			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.5594C>T	6.37:g.144843168C>T	ENSP00000356515:p.Ser1865Leu		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.S1865L	ENST00000367545.3	37	c.5594	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	C	7.253	0.603641	0.14002	2.27E-4	0.0	ENSG00000152818	ENST00000367545	T	0.60797	0.16	5.7	4.84	0.62591	.	1.482540	0.04330	N	0.352155	T	0.35653	0.0939	L	0.51422	1.61	0.58432	D	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.20505	-1.0273	10	0.09843	T	0.71	.	14.6139	0.68534	0.0:0.93:0.0:0.07	.	1865	P46939	UTRO_HUMAN	L	1865	ENSP00000356515:S1865L	ENSP00000356515:S1865L	S	+	2	0	UTRN	144884861	0.072000	0.21174	0.004000	0.12327	0.226000	0.24999	2.795000	0.47861	1.423000	0.47198	0.561000	0.74099	TCA	UTRN	-	pirsf_Dystrophin/utrophin	ENSG00000152818		0.313	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	-	0.00	86	0	C			144843168	+1	tier1	rs138139861	no_errors	ENST00000367545	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.026	T
VPS9D1	9605	genome.wustl.edu	37	16	89779185	89779185	+	Intron	SNP	A	A	G			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr16:89779185A>G	ENST00000389386.3	-	5	556				VPS9D1_ENST00000565452.1_5'Flank|VPS9D1_ENST00000561976.1_Intron|VPS9D1-AS1_ENST00000562866.1_RNA	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1						ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										TGGACACCAGAGGAGTCTCTC	0.597																																																	0																																										SO:0001627	intron_variant	0			AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399			13526	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 7"""	C16orf7		10231027	Standard	NM_004913		Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000389386.3:c.432-61T>C	16.37:g.89779185A>G				RNA	SNP	-	NULL	ENST00000389386.3	37	NULL	CCDS42220.1	16																																																																																			VPS9D1-AS1	-	-	ENSG00000261373		0.597	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	VPS9D1-AS1	HGNC	protein_coding	OTTHUMT00000422508.1	-	0.00	38	0	A	NM_004913		89779185	+1	tier1	-	no_errors	ENST00000562866	ensembl	human	known	74_37	rna	42.86	12	9	SNP	0.000	G
VSTM4	196740	genome.wustl.edu	37	10	50255074	50255074	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr10:50255074G>A	ENST00000332853.4	-	7	814	c.791C>T	c.(790-792)aCg>aTg	p.T264M		NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T264R(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						TTTATGGAACGTGGGGGCTAT	0.473																																																	1	Substitution - Missense(1)	lung(1)											324.0	295.0	305.0					10																	50255074		2203	4300	6503	SO:0001583	missense	0			BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"""Immunoglobulin superfamily / V-set domain containing"""	26470	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 72"""	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.791C>T	10.37:g.50255074G>A	ENSP00000331062:p.Thr264Met		B4DNI6|Q96MX7	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.T264M	ENST00000332853.4	37	c.791	CCDS31198.1	10	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740119	0.69304	.	.	ENSG00000165633	ENST00000332853	T	0.07327	3.2	5.92	5.92	0.95590	.	0.514470	0.21973	N	0.066437	T	0.05410	0.0143	N	0.08118	0	0.80722	D	1	P	0.49358	0.923	B	0.38327	0.271	T	0.42716	-0.9435	10	0.62326	D	0.03	-3.0249	15.8243	0.78686	0.0:0.0:1.0:0.0	.	264	Q8IW00	VSTM4_HUMAN	M	264	ENSP00000331062:T264M	ENSP00000331062:T264M	T	-	2	0	VSTM4	49925080	0.177000	0.23109	0.036000	0.18154	0.071000	0.16799	3.182000	0.50910	2.811000	0.96726	0.555000	0.69702	ACG	VSTM4	-	NULL	ENSG00000165633		0.473	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSTM4	HGNC	protein_coding	OTTHUMT00000047966.2		0.00	83	0	G	NM_144984		50255074	-1			no_errors	ENST00000332853	ensembl	human	known	74_37	missense	5.36	53	3	SNP	0.029	A
VWC2L	402117	genome.wustl.edu	37	2	215398804	215398804	+	Intron	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr2:215398804C>T	ENST00000312504.5	+	4	1322				VWC2L-IT1_ENST00000416430.1_RNA|AC107218.3_ENST00000437883.1_RNA|VWC2L_ENST00000427124.1_Intron|AC107218.3_ENST00000412896.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like						negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						AAAAGTTTCACAGAAGGGACA	0.493																																																	0																																										SO:0001627	intron_variant	0			AB374231	CCDS46509.1	2q34-q35	2011-01-25	2011-01-25		ENSG00000174453	ENSG00000174453			37203	protein-coding gene	gene with protein product			"""von Willebrand factor C domain-containing protein 2-like"""				Standard	NM_001080500		Approved		uc002vet.2	B2RUY7	OTTHUMG00000154811	ENST00000312504.5:c.521-41592C>T	2.37:g.215398804C>T			A6NC69|B2RUW7|B7X8X1	RNA	SNP	-	NULL	ENST00000312504.5	37	NULL	CCDS46509.1	2																																																																																			VWC2L-IT1	-	-	ENSG00000224257		0.493	VWC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWC2L-IT1	HGNC	protein_coding	OTTHUMT00000337175.1	-	0.00	103	0	C	NM_001080500		215398804	+1	tier1	-	no_errors	ENST00000416430	ensembl	human	known	74_37	rna	10.53	34	4	SNP	1.000	T
WDR1	9948	genome.wustl.edu	37	4	10099383	10099383	+	Nonsense_Mutation	SNP	G	G	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr4:10099383G>T	ENST00000499869.2	-	5	703	c.510C>A	c.(508-510)tgC>tgA	p.C170*	WDR1_ENST00000502702.1_Intron|WDR1_ENST00000382452.2_Nonsense_Mutation_p.C170*|WDR1_ENST00000382451.2_Intron			O75083	WDR1_HUMAN	WD repeat domain 1	170					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)		p.C170C(2)		endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		AGAATGCCGCGCAGTTATCAT	0.498																																																	2	Substitution - coding silent(2)	lung(2)											77.0	82.0	80.0					4																	10099383		1976	4154	6130	SO:0001587	stop_gained	0			AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"""WD repeat domain containing"""	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.510C>A	4.37:g.10099383G>T	ENSP00000427687:p.Cys170*		A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.C170*	ENST00000499869.2	37	c.510	CCDS54740.1	4	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739561	0.69304	.	.	ENSG00000071127	ENST00000499869;ENST00000382452;ENST00000508079	.	.	.	5.56	-7.52	0.01341	.	0.046343	0.85682	D	0.000000	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-23.5567	17.3078	0.87200	0.7838:0.0:0.2162:0.0	.	.	.	.	X	170;170;174	.	ENSP00000371890:C170X	C	-	3	2	WDR1	9708481	0.004000	0.15560	0.245000	0.24217	0.426000	0.31534	-1.050000	0.03510	-1.701000	0.01413	-0.244000	0.11960	TGC	WDR1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000071127		0.498	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR1	HGNC	protein_coding	OTTHUMT00000359877.1		0.00	35	0	G			10099383	-1			no_errors	ENST00000382452	ensembl	human	known	74_37	nonsense	15.38	11	2	SNP	0.488	T
WDR60	55112	genome.wustl.edu	37	7	158719119	158719119	+	Missense_Mutation	SNP	G	G	T	rs115070314	byFrequency	TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr7:158719119G>T	ENST00000407559.3	+	19	2556	c.2398G>T	c.(2398-2400)Gct>Tct	p.A800S		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	800					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		CTTCCACATCGCTTCCTTGGA	0.493																																																	0													39.0	37.0	38.0					7																	158719119		1921	4130	6051	SO:0001583	missense	0				CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.2398G>T	7.37:g.158719119G>T	ENSP00000384290:p.Ala800Ser		Q9NW58	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.A800S	ENST00000407559.3	37	c.2398	CCDS47757.1	7	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380464	0.42207	.	.	ENSG00000126870	ENST00000407559	T	0.80393	-1.37	5.95	5.08	0.68730	WD40 repeat-like-containing domain (1);	0.055233	0.64402	D	0.000001	D	0.89431	0.6713	M	0.81239	2.535	0.49582	D	0.999805	D;D	0.89917	1.0;1.0	D;D	0.81914	0.988;0.995	D	0.90318	0.4342	10	0.56958	D	0.05	-12.2357	14.3226	0.66496	0.0706:0.0:0.9294:0.0	.	283;800	A4D230;Q8WVS4	.;WDR60_HUMAN	S	800	ENSP00000384290:A800S	ENSP00000384290:A800S	A	+	1	0	WDR60	158411880	1.000000	0.71417	0.045000	0.18777	0.943000	0.58893	7.571000	0.82399	1.536000	0.49237	0.655000	0.94253	GCT	WDR60	-	superfamily_WD40_repeat_dom	ENSG00000126870		0.493	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR60	HGNC	protein_coding	OTTHUMT00000322668.1		0.00	47	0	G	NM_018051		158719119	+1			no_errors	ENST00000407559	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.813	T
WNK1	65125	genome.wustl.edu	37	12	977829	977829	+	Intron	SNP	A	A	G			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:977829A>G	ENST00000315939.6	+	9	2782				WNK1_ENST00000340908.4_Intron|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000574564.1_Silent_p.G278G|WNK1_ENST00000530271.2_Silent_p.G1064G|WNK1_ENST00000537687.1_Silent_p.G979G	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1						intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCTCTTCAGGAGAAGGAGGTG	0.443																																					Colon(19;451 567 6672 12618 28860)												0													45.0	45.0	45.0					12																	977829		1925	4126	6051	SO:0001627	intron_variant	0			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2140-2602A>G	12.37:g.977829A>G			A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G1064	ENST00000315939.6	37	c.3192	CCDS8506.1	12																																																																																			WNK1	-	NULL	ENSG00000060237		0.443	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	-	0.00	42	0	A	NM_018979		977829	+1	tier1	-	no_errors	ENST00000530271	ensembl	human	known	74_37	silent	18.75	13	3	SNP	1.000	G
YARS2	51067	genome.wustl.edu	37	12	32908126	32908126	+	Missense_Mutation	SNP	T	T	C			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr12:32908126T>C	ENST00000324868.8	-	1	710	c.683A>G	c.(682-684)gAc>gGc	p.D228G		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	228					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	GTAATAGAAGTCATAGGCCTG	0.552											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													101.0	107.0	105.0					12																	32908126		2203	4300	6503	SO:0001583	missense	0			AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	24249	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 2, mitochondrial"""	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.683A>G	12.37:g.32908126T>C	ENSP00000320658:p.Asp228Gly	836	D3DUW8|Q9H817	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ic,prints_Tyr-tRNA-ligase,tigrfam_Tyr-tRNA-ligase	p.D228G	ENST00000324868.8	37	c.683	CCDS31770.1	12	.	.	.	.	.	.	.	.	.	.	T	26.7	4.765136	0.90020	.	.	ENSG00000139131	ENST00000324868	T	0.78003	-1.14	5.33	5.33	0.75918	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.046825	0.85682	D	0.000000	D	0.91516	0.7321	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93877	0.7167	10	0.87932	D	0	-9.7004	14.0944	0.65010	0.0:0.0:0.0:1.0	.	228	Q9Y2Z4	SYYM_HUMAN	G	228	ENSP00000320658:D228G	ENSP00000320658:D228G	D	-	2	0	YARS2	32799393	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.598000	0.82745	2.247000	0.74100	0.524000	0.50904	GAC	YARS2	-	pfam_aa-tRNA-synth_Ic,prints_Tyr-tRNA-ligase,tigrfam_Tyr-tRNA-ligase	ENSG00000139131		0.552	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YARS2	HGNC	protein_coding	OTTHUMT00000404153.1	-	0.00	62	0	T	NM_015936		32908126	-1	tier1	-	no_errors	ENST00000324868	ensembl	human	known	74_37	missense	41.18	40	28	SNP	1.000	C
ZFAND6	54469	genome.wustl.edu	37	15	80412728	80412728	+	Frame_Shift_Del	DEL	T	T	-			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr15:80412728delT	ENST00000261749.6	+	3	464	c.42delT	c.(40-42)tgtfs	p.C14fs	ZFAND6_ENST00000558494.1_Frame_Shift_Del_p.C14fs|ZFAND6_ENST00000558087.1_Frame_Shift_Del_p.C14fs|ZFAND6_ENST00000559775.1_Frame_Shift_Del_p.C14fs|ZFAND6_ENST00000561060.1_Frame_Shift_Del_p.C14fs|ZFAND6_ENST00000559157.1_Frame_Shift_Del_p.C14fs|ZFAND6_ENST00000559835.1_Frame_Shift_Del_p.C14fs|ZFAND6_ENST00000558688.1_Frame_Shift_Del_p.C14fs	NM_001242913.1|NM_001242914.1|NM_019006.3	NP_001229842.1|NP_001229843.1|NP_061879.2	Q6FIF0	ZFAN6_HUMAN	zinc finger, AN1-type domain 6	14					apoptotic process (GO:0006915)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|protein targeting to peroxisome (GO:0006625)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						CTATGCTTTGTTCCACTGGCT	0.388																																																	0													118.0	108.0	111.0					15																	80412728		2203	4300	6503	SO:0001589	frameshift_variant	0			BC005283	CCDS10313.1, CCDS58395.1	15q24.3	2013-01-09	2006-07-07	2006-07-07	ENSG00000086666	ENSG00000086666		"""Zinc fingers, AN1-type domain containing"""	30164	protein-coding gene	gene with protein product	"""protein associated with PRK1"""	610183	"""zinc finger, A20 domain containing 3"""	ZA20D3		11054541	Standard	NM_019006		Approved	ZFAND5B, AWP1	uc002bff.2	Q6FIF0	OTTHUMG00000144169	ENST00000261749.6:c.42delT	15.37:g.80412728delT	ENSP00000261749:p.Cys14fs		D3DW92|D3DW94|O95792|Q9BQF7|Q9GZY3	Frame_Shift_Del	DEL	pfam_Znf_A20,pfam_Znf_AN1,smart_Znf_A20,smart_Znf_AN1,pfscan_Znf_A20,pfscan_Znf_AN1	p.S15fs	ENST00000261749.6	37	c.42	CCDS10313.1	15																																																																																			ZFAND6	-	pfam_Znf_A20,smart_Znf_A20,pfscan_Znf_A20	ENSG00000086666		0.388	ZFAND6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAND6	HGNC	protein_coding	OTTHUMT00000291368.1		0.00	53	0	T	NM_019006		80412728	+1	tier1		no_errors	ENST00000261749	ensembl	human	known	74_37	frame_shift_del	10.00	18	2	DEL	1.000	-
ZFHX4	79776	genome.wustl.edu	37	8	77766970	77766970	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr8:77766970G>T	ENST00000521891.2	+	10	8261	c.7813G>T	c.(7813-7815)Gat>Tat	p.D2605Y	ZFHX4_ENST00000050961.6_Missense_Mutation_p.D2560Y|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D2579Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D2560Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2560					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCAACACCGAGATAAACGCTT	0.413										HNSCC(33;0.089)																																							0													49.0	48.0	49.0					8																	77766970		1905	4114	6019	SO:0001583	missense	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7813G>T	8.37:g.77766970G>T	ENSP00000430497:p.Asp2605Tyr		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.D2605Y	ENST00000521891.2	37	c.7813	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	G	12.13	1.846020	0.32606	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.54866	0.55;0.6;0.57;0.56	5.38	5.38	0.77491	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.000000	0.43260	U	0.000593	T	0.65903	0.2736	L	0.36672	1.1	0.80722	D	1	D;D;D	0.69078	0.965;0.979;0.997	P;D;D	0.79784	0.862;0.935;0.993	T	0.67696	-0.5604	10	0.87932	D	0	.	19.3233	0.94252	0.0:0.0:1.0:0.0	.	2560;2560;2605	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	Y	2605;2589;2560;2560;2579	ENSP00000430497:D2605Y;ENSP00000399605:D2560Y;ENSP00000050961:D2560Y;ENSP00000430848:D2579Y	ENSP00000050961:D2560Y	D	+	1	0	ZFHX4	77929525	1.000000	0.71417	0.168000	0.22838	0.348000	0.29142	7.818000	0.86416	2.791000	0.96007	0.650000	0.86243	GAT	ZFHX4	-	superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000091656		0.413	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	-	0.00	47	0	G	NM_024721		77766970	+1	tier1	-	no_errors	ENST00000521891	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T
ZFP69B	65243	genome.wustl.edu	37	1	40929164	40929164	+	Missense_Mutation	SNP	A	A	G			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr1:40929164A>G	ENST00000411995.2	+	6	1883	c.1508A>G	c.(1507-1509)tAt>tGt	p.Y503C	ZFP69B_ENST00000484445.1_3'UTR|ZFP69B_ENST00000361584.3_Missense_Mutation_p.Y401C|RP1-228H13.5_ENST00000565390.1_RNA	NM_023070.2	NP_075558.2	Q9UJL9	ZF69B_HUMAN	ZFP69 zinc finger protein B	503					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GAAAAACCTTATGATTGTAAT	0.368																																																	0													58.0	59.0	59.0					1																	40929164		2203	4300	6503	SO:0001583	missense	0			BC017498	CCDS452.1, CCDS452.2	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187801	ENSG00000187801		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	28053	protein-coding gene	gene with protein product			"""zinc finger protein 643"""	ZNF643			Standard	NM_023070		Approved	ZKSCAN23B, FLJ34293, ZSCAN54B	uc001cfn.2	Q9UJL9	OTTHUMG00000007302	ENST00000411995.2:c.1508A>G	1.37:g.40929164A>G	ENSP00000399664:p.Tyr503Cys		Q5QPL4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.Y503C	ENST00000411995.2	37	c.1508	CCDS452.2	1	.	.	.	.	.	.	.	.	.	.	.	12.54	1.969706	0.34754	.	.	ENSG00000187801	ENST00000431552;ENST00000411995;ENST00000361584	T;T	0.25414	1.8;1.8	3.33	2.2	0.27929	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49508	0.1561	M	0.89478	3.035	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	T	0.36939	-0.9727	9	0.72032	D	0.01	.	2.7573	0.05296	0.6533:0.0:0.1236:0.2231	.	503	Q9UJL9	ZN643_HUMAN	C	434;503;401	ENSP00000399664:Y503C;ENSP00000354547:Y401C	ENSP00000354547:Y401C	Y	+	2	0	ZNF643	40701751	0.105000	0.21958	0.989000	0.46669	0.996000	0.88848	1.511000	0.35801	0.665000	0.31066	0.533000	0.62120	TAT	ZFP69B	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000187801		0.368	ZFP69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP69B	HGNC	protein_coding	OTTHUMT00000019078.2	-	0.00	48	0	A	NM_023070		40929164	+1	tier1	-	no_errors	ENST00000411995	ensembl	human	known	74_37	missense	23.08	30	9	SNP	0.025	G
ZNF429	353088	genome.wustl.edu	37	19	21720005	21720005	+	Missense_Mutation	SNP	C	C	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:21720005C>A	ENST00000358491.4	+	4	1358	c.1150C>A	c.(1150-1152)Ctt>Att	p.L384I	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	384					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						GTCTTCAAGACTTACTCGACA	0.363																																																	0													41.0	47.0	45.0					19																	21720005		2059	4238	6297	SO:0001583	missense	0			AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1150C>A	19.37:g.21720005C>A	ENSP00000351280:p.Leu384Ile		A6NLV7|Q9BZE6	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.L384I	ENST00000358491.4	37	c.1150	CCDS42537.1	19	.	.	.	.	.	.	.	.	.	.	.	10.45	1.354362	0.24512	.	.	ENSG00000197013	ENST00000358491	T	0.53857	0.6	0.185	0.185	0.15096	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.64249	0.2581	M	0.92077	3.27	0.09310	N	1	B	0.25563	0.129	B	0.39617	0.305	T	0.64956	-0.6285	9	0.87932	D	0	.	4.9819	0.14170	0.3412:0.6588:0.0:1.0E-4	.	384	Q86V71	ZN429_HUMAN	I	384	ENSP00000351280:L384I	ENSP00000351280:L384I	L	+	1	0	ZNF429	21511845	0.057000	0.20700	0.093000	0.20910	0.094000	0.18550	0.519000	0.22862	0.293000	0.22520	0.298000	0.19748	CTT	ZNF429	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197013		0.363	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF429	HGNC	protein_coding	OTTHUMT00000463981.1	-	0.00	72	0	C	NM_001001415		21720005	+1	tier1	-	no_errors	ENST00000358491	ensembl	human	novel	74_37	missense	28.95	27	11	SNP	0.013	A
ZNF382	84911	genome.wustl.edu	37	19	37117924	37117924	+	Silent	SNP	G	G	A	rs148103215		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:37117924G>A	ENST00000292928.2	+	5	1238	c.1125G>A	c.(1123-1125)acG>acA	p.T375T	CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000439428.1_Silent_p.T374T|ZNF382_ENST00000435416.1_Silent_p.T374T|ZNF382_ENST00000423582.1_Silent_p.T326T	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	375	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAACACATACGGGGGAGAAAG	0.458																																																	0								G		0,4406		0,0,2203	82.0	85.0	84.0		1125	-0.6	1.0	19	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF382	NM_032825.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		375/551	37117924	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"""Zinc fingers, C2H2-type"", ""-"""	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.1125G>A	19.37:g.37117924G>A			A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Silent	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.T375	ENST00000292928.2	37	c.1125	CCDS33004.1	19																																																																																			ZNF382	-	pfscan_Znf_C2H2	ENSG00000161298		0.458	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF382	HGNC	protein_coding	OTTHUMT00000109562.2	-	0.00	32	0	G	NM_032825		37117924	+1	tier1	rs148103215	no_errors	ENST00000292928	ensembl	human	known	74_37	silent	57.89	8	11	SNP	0.995	A
ZNF585B	92285	genome.wustl.edu	37	19	37677281	37677281	+	Missense_Mutation	SNP	G	G	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:37677281G>T	ENST00000532828.2	-	5	1409	c.1158C>A	c.(1156-1158)gaC>gaA	p.D386E	ZNF585B_ENST00000312908.5_De_novo_Start_OutOfFrame|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.D331E|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	386					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTCTCCCACAGTCACTGCATT	0.433																																					Melanoma(93;882 1454 18863 28917 48427)												0													111.0	104.0	106.0					19																	37677281		2203	4300	6503	SO:0001583	missense	0			AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.1158C>A	19.37:g.37677281G>T	ENSP00000433773:p.Asp386Glu		Q8IZD3|Q96JW6	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.D386E	ENST00000532828.2	37	c.1158	CCDS12500.1	19	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.150572	0.00328	.	.	ENSG00000245680	ENST00000531805;ENST00000532828	T;T	0.38240	1.15;3.2	2.89	-5.78	0.02362	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.193393	0.25386	N	0.031058	T	0.06416	0.0165	N	0.00783	-1.19	0.58432	D	0.999999	B;B	0.20261	0.026;0.043	B;B	0.16289	0.01;0.015	T	0.36359	-0.9751	10	0.02654	T	1	.	5.2875	0.15710	0.1913:0.0:0.5029:0.3059	.	331;386	E9PQH3;Q52M93	.;Z585B_HUMAN	E	331;386	ENSP00000436774:D331E;ENSP00000433773:D386E	ENSP00000436774:D331E	D	-	3	2	ZNF585B	42369121	0.000000	0.05858	0.161000	0.22692	0.695000	0.40330	-5.642000	0.00107	-0.955000	0.03636	-0.391000	0.06502	GAC	ZNF585B	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000245680		0.433	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF585B	HGNC	protein_coding	OTTHUMT00000388272.2		0.00	70	0	G	NM_152279		37677281	-1			no_errors	ENST00000532828	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.001	T
ZNF527	84503	genome.wustl.edu	37	19	37879574	37879574	+	Missense_Mutation	SNP	A	A	T	rs367723730		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:37879574A>T	ENST00000436120.2	+	5	730	c.623A>T	c.(622-624)gAa>gTa	p.E208V	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	208					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTCATAATTGAATATAAAAGA	0.318																																																	0													50.0	49.0	49.0					19																	37879574		1807	4061	5868	SO:0001583	missense	0			AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.623A>T	19.37:g.37879574A>T	ENSP00000390179:p.Glu208Val		B4DVL5	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.E208V	ENST00000436120.2	37	c.623	CCDS42559.1	19	.	.	.	.	.	.	.	.	.	.	A	14.57	2.574597	0.45902	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	4.15	0.776	0.18532	.	.	.	.	.	T	0.09024	0.0223	N	0.12182	0.205	0.09310	N	1	P;P	0.41848	0.48;0.763	B;B	0.33620	0.045;0.167	T	0.12656	-1.0539	8	0.22706	T	0.39	.	1.226	0.01933	0.5111:0.1517:0.1894:0.1479	.	208;176	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	V	208;176;156	.	ENSP00000325231:E176V	E	+	2	0	ZNF527	42571414	0.000000	0.05858	0.003000	0.11579	0.944000	0.59088	-2.456000	0.01002	0.655000	0.30866	0.460000	0.39030	GAA	ZNF527	-	NULL	ENSG00000189164		0.318	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF527	HGNC	protein_coding	OTTHUMT00000458434.1		0.00	38	0	A	NM_032453		37879574	+1			no_errors	ENST00000436120	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.000	T
ZNF226	7769	genome.wustl.edu	37	19	44680327	44680327	+	Silent	SNP	A	A	C			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:44680327A>C	ENST00000590089.1	+	7	1279	c.912A>C	c.(910-912)ggA>ggC	p.G304G	ZNF226_ENST00000337433.5_Silent_p.G304G|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Silent_p.G304G			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	304					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)						Prostate(69;0.0352)|all_neural(266;0.202)				TACATGTGGGAGAAAAACTTA	0.433																																					Pancreas(115;581 1665 13228 19278 50070)												0													60.0	62.0	62.0					19																	44680327		2082	4220	6302	SO:0001819	synonymous_variant	0			AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"""Zinc fingers, C2H2-type"", ""-"""	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.912A>C	19.37:g.44680327A>C			Q8WWE6|Q96TE6|Q9NS44	Silent	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.G304	ENST00000590089.1	37	c.912	CCDS46102.1	19																																																																																			ZNF226	-	pfscan_Znf_C2H2	ENSG00000167380		0.433	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF226	HGNC	protein_coding	OTTHUMT00000460712.1	-	0.00	51	0	A			44680327	+1	tier1	-	no_errors	ENST00000337433	ensembl	human	known	74_37	silent	19.35	25	6	SNP	1.000	C
ZNF616	90317	genome.wustl.edu	37	19	52619961	52619961	+	Missense_Mutation	SNP	C	C	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:52619961C>A	ENST00000600228.1	-	4	717	c.456G>T	c.(454-456)caG>caT	p.Q152H	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	152					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q152H(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TTTGAACTTTCTGCAGTTCAG	0.368																																																	1	Substitution - Missense(1)	breast(1)											162.0	149.0	154.0					19																	52619961		2202	4300	6502	SO:0001583	missense	0			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.456G>T	19.37:g.52619961C>A	ENSP00000471000:p.Gln152His		B3KRV1|Q0P658|Q658V7	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.Q152H	ENST00000600228.1	37	c.456	CCDS33090.1	19	.	.	.	.	.	.	.	.	.	.	C	9.997	1.232421	0.22626	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.57	0.169	0.15017	.	.	.	.	.	T	0.36386	0.0965	M	0.62209	1.925	0.09310	N	1	P	0.49090	0.919	P	0.46479	0.518	T	0.22208	-1.0223	8	0.33940	T	0.23	.	7.1354	0.25525	0.0:0.7185:0.2814:0.0	.	152	Q08AN1	ZN616_HUMAN	H	152	.	ENSP00000328722:Q152H	Q	-	3	2	ZNF616	57311773	0.000000	0.05858	0.005000	0.12908	0.037000	0.13140	-0.941000	0.03925	0.840000	0.34995	0.305000	0.20034	CAG	ZNF616	-	NULL	ENSG00000204611		0.368	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF616	HGNC	protein_coding	OTTHUMT00000462451.1		0.00	78	0	C	XM_030892		52619961	-1			no_errors	ENST00000600228	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.171	A
ZNF460	10794	genome.wustl.edu	37	19	57803332	57803332	+	Missense_Mutation	SNP	C	C	T			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:57803332C>T	ENST00000360338.3	+	3	1745	c.1423C>T	c.(1423-1425)Ccc>Tcc	p.P475S	ZNF460_ENST00000537645.1_Missense_Mutation_p.P434S	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	475					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGGAGAGAAGCCCTATGAATG	0.532																																																	0													126.0	111.0	116.0					19																	57803332		2203	4300	6503	SO:0001583	missense	0			X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"""Zinc fingers, C2H2-type"", ""-"""	21628	protein-coding gene	gene with protein product		604755	"""zinc finger protein 272"""	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.1423C>T	19.37:g.57803332C>T	ENSP00000353491:p.Pro475Ser		A4FU64|B4DNX9|Q2VPC7|Q6VSF8	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.P475S	ENST00000360338.3	37	c.1423	CCDS12949.1	19	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966660	0.53507	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	T;T	0.28454	1.61;1.61	1.68	1.68	0.24146	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50514	0.1620	M	0.70108	2.13	0.29896	N	0.824834	D	0.76494	0.999	D	0.68765	0.96	T	0.50065	-0.8871	9	0.87932	D	0	.	10.9815	0.47497	0.0:1.0:0.0:0.0	.	475	Q14592	ZN460_HUMAN	S	434;475	ENSP00000446167:P434S;ENSP00000353491:P475S	ENSP00000353491:P475S	P	+	1	0	ZNF460	62495144	0.007000	0.16637	0.150000	0.22450	0.593000	0.36681	1.504000	0.35726	1.227000	0.43598	0.650000	0.86243	CCC	ZNF460	-	pfscan_Znf_C2H2	ENSG00000197714		0.532	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF460	HGNC	protein_coding	OTTHUMT00000465727.1		0.00	53	0	C	NM_006635		57803332	+1			no_errors	ENST00000360338	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.971	T
ZIK1	284307	genome.wustl.edu	37	19	58099931	58099931	+	Missense_Mutation	SNP	G	G	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:58099931G>A	ENST00000597850.1	+	3	312	c.97G>A	c.(97-99)Gcc>Acc	p.A33T	ZIK1_ENST00000598726.1_3'UTR|ZIK1_ENST00000307468.4_Intron|ZIK1_ENST00000599456.1_5'UTR|ZIK1_ENST00000536878.2_Missense_Mutation_p.A20T	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	33	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A33T(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGAGGACATCGCCATTTACTT	0.522																																																	1	Substitution - Missense(1)	endometrium(1)											271.0	211.0	231.0					19																	58099931		2203	4300	6503	SO:0001583	missense	0			AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"""Zinc fingers, C2H2-type"", ""-"""	33104	protein-coding gene	gene with protein product			"""zinc finger protein interacting with K protein 1 homolog (mouse)"""				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.97G>A	19.37:g.58099931G>A	ENSP00000472867:p.Ala33Thr		O43339|Q3SY51|Q3SY53	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.A33T	ENST00000597850.1	37	c.97	CCDS33135.1	19	.	.	.	.	.	.	.	.	.	.	g	16.93	3.256760	0.59321	.	.	ENSG00000171649	ENST00000536878;ENST00000356724;ENST00000307468	T	0.03065	4.06	3.3	2.25	0.28309	Krueppel-associated box (4);	.	.	.	.	T	0.11965	0.0291	M	0.64567	1.98	0.27912	N	0.938562	D;D	0.89917	0.968;1.0	P;D	0.91635	0.447;0.999	T	0.08680	-1.0710	9	0.56958	D	0.05	.	5.188	0.15195	0.1144:0.0:0.683:0.2026	.	20;33	F5H435;Q3SY52	.;ZIK1_HUMAN	T	20;14;33	ENSP00000438487:A20T	ENSP00000303820:A33T	A	+	1	0	ZIK1	62791743	0.947000	0.32204	0.578000	0.28575	0.972000	0.66771	0.677000	0.25262	0.713000	0.32060	0.442000	0.29010	GCC	ZIK1	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000171649		0.522	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZIK1	HGNC	protein_coding	OTTHUMT00000466791.1	-	0.00	106	0	G	NM_001010879		58099931	+1	tier1	-	no_errors	ENST00000597850	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.985	A
ZNF668	79759	genome.wustl.edu	37	16	31073108	31073108	+	Nonsense_Mutation	SNP	T	T	A			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr16:31073108T>A	ENST00000538906.1	-	3	1925	c.1141A>T	c.(1141-1143)Aag>Tag	p.K381*	ZNF668_ENST00000535577.1_Nonsense_Mutation_p.K381*|ZNF668_ENST00000539836.3_Nonsense_Mutation_p.K404*|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000417110.2_Missense_Mutation_p.F99Y|ZNF668_ENST00000426488.2_Nonsense_Mutation_p.K404*|ZNF668_ENST00000394983.2_Nonsense_Mutation_p.K381*|ZNF668_ENST00000300849.4_Nonsense_Mutation_p.K381*	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	381					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CGGCTATGCTTCGTGAGGCTG	0.667																																					Colon(181;1111 1980 5060 10512 25785)												0													81.0	85.0	84.0					16																	31073108		2197	4300	6497	SO:0001587	stop_gained	0				CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1141A>T	16.37:g.31073108T>A	ENSP00000440149:p.Lys381*		C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K404*	ENST00000538906.1	37	c.1210	CCDS10701.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.6|20.6	4.010423|4.010423	0.75046|0.75046	.|.	.|.	ENSG00000232748|ENSG00000167394	ENST00000417110|ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	.|.	.|.	.|.	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.41419|.	0.1158|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.31752|.	-0.9932|.	5|.	0.87932|0.02654	D|T	0|1	-27.3034|-27.3034	14.0053|14.0053	0.64459|0.64459	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	Y|X	99|404;381;381;381;381	.|.	ENSP00000391989:F99Y|ENSP00000300849:K381X	F|K	+|-	2|1	0|0	AC135050.1|ZNF668	30980609|30980609	0.188000|0.188000	0.23250|0.23250	0.923000|0.923000	0.36655|0.36655	0.034000|0.034000	0.12701|0.12701	1.616000|1.616000	0.36933|0.36933	2.133000|2.133000	0.65898|0.65898	0.455000|0.455000	0.32223|0.32223	TTC|AAG	ZNF668	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167394		0.667	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF668	HGNC	protein_coding	OTTHUMT00000108516.2	-	0.00	64	0	T	NM_024706		31073108	-1	tier1	-	no_errors	ENST00000426488	ensembl	human	known	74_37	nonsense	30.77	27	12	SNP	1.000	A
ZNF729	100287226	genome.wustl.edu	37	19	22499540	22499540	+	Missense_Mutation	SNP	C	C	A	rs530756738		TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:22499540C>A	ENST00000601693.1	+	4	3439	c.3321C>A	c.(3319-3321)gaC>gaA	p.D1107E	ZNF729_ENST00000357491.6_Missense_Mutation_p.D1079E			A6NN14	ZN729_HUMAN	zinc finger protein 729	1107					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(5)|central_nervous_system(1)|lung(32)|ovary(3)	41						ACCAATGTGACGAATGTGGCA	0.383																																																	0																																										SO:0001583	missense	0				CCDS59368.1	19p12	2014-02-14			ENSG00000196350	ENSG00000196350		"""Zinc fingers, C2H2-type"", ""-"""	32464	protein-coding gene	gene with protein product							Standard	NM_001242680		Approved		uc021urs.1	A6NN14	OTTHUMG00000182938	ENST00000601693.1:c.3321C>A	19.37:g.22499540C>A	ENSP00000469582:p.Asp1107Glu		M0QY45	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.D1107E	ENST00000601693.1	37	c.3321	CCDS59368.1	19	.	.	.	.	.	.	.	.	.	.	.	0.011	-1.735483	0.00681	.	.	ENSG00000196350	ENST00000357491	T	0.18502	2.21	0.96	-1.92	0.07618	.	.	.	.	.	T	0.04543	0.0124	.	.	.	.	.	.	.	.	.	.	.	.	T	0.35968	-0.9767	5	0.06625	T	0.88	.	0.082	0.00032	0.3154:0.2482:0.1925:0.2439	.	.	.	.	E	1079	ENSP00000350085:D1079E	ENSP00000350085:D1079E	D	+	3	2	ZNF729	22291380	0.000000	0.05858	0.009000	0.14445	0.008000	0.06430	-9.764000	0.00009	-1.106000	0.03008	-1.150000	0.01838	GAC	ZNF729	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196350		0.383	ZNF729-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF729	HGNC	protein_coding	OTTHUMT00000464396.1		0.00	83	0	C	XM_496301		22499540	+1			no_errors	ENST00000601693	ensembl	human	novel	74_37	missense	14.29	36	6	SNP	0.001	A
ZNF865	100507290	genome.wustl.edu	37	19	56127331	56127331	+	Frame_Shift_Del	DEL	G	G	-			TCGA-VR-A8EU-01A-11D-A36J-09	TCGA-VR-A8EU-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5edfed9c-9aa2-41ef-b467-1d8077bfaecb	b064d16c-7950-44f2-9472-d9e11d8cd108	g.chr19:56127331delG	ENST00000568956.1	+	2	2701	c.2347delG	c.(2347-2349)gggfs	p.G784fs		NM_001195605.1	NP_001182534.1	P0CJ78	ZN865_HUMAN	zinc finger protein 865	784					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										aggtgctggcgggggtgCCAG	0.716																																																	0																																										SO:0001589	frameshift_variant	0				CCDS58681.1	19q13.42	2013-01-08			ENSG00000261221	ENSG00000261221		"""Zinc fingers, C2H2-type"""	38705	protein-coding gene	gene with protein product							Standard	NM_001195605		Approved		uc021vca.1	P0CJ78	OTTHUMG00000177108	ENST00000568956.1:c.2347delG	19.37:g.56127331delG	ENSP00000457715:p.Gly784fs			Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G784fs	ENST00000568956.1	37	c.2347	CCDS58681.1	19																																																																																			ZNF865	-	NULL	ENSG00000261221		0.716	ZNF865-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF865	HGNC	protein_coding	OTTHUMT00000435399.1		0.00	9	0	G	NM_001195605		56127331	+1	tier1		no_errors	ENST00000568956	ensembl	human	novel	74_37	frame_shift_del	28.57	5	2	DEL	0.006	-
