#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_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_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ANO7	50636	genome.wustl.edu	37	2	242148707	242148707	+	Missense_Mutation	SNP	G	G	A	rs373704127		TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr2:242148707G>A	ENST00000274979.8	+	12	1350	c.1247G>A	c.(1246-1248)cGg>cAg	p.R416Q	ANO7_ENST00000402430.3_Missense_Mutation_p.R415Q	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	416					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CAGGCCGGCCGGCTGTTCGAC	0.642																																																	0								G	GLN/ARG	0,4350		0,0,2175	14.0	14.0	14.0		1247	2.4	1.0	2		14	1,8485		0,1,4242	no	missense	ANO7	NM_001001891.3	43	0,1,6417	AA,AG,GG		0.0118,0.0,0.0078	possibly-damaging	416/934	242148707	1,12835	2175	4243	6418	SO:0001583	missense	50636			AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.1247G>A	2.37:g.242148707G>A	ENSP00000274979:p.Arg416Gln		Q6IWH6	Missense_Mutation	SNP	pfam_Anoctamin	p.R416Q	ENST00000274979.8	37	c.1247	CCDS33423.1	2	.	.	.	.	.	.	.	.	.	.	G	9.438	1.087431	0.20390	0.0	1.18E-4	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.61274	0.12;0.12	3.33	2.42	0.29668	.	0.942968	0.08797	N	0.892370	T	0.40767	0.1130	L	0.38175	1.15	0.25217	N	0.989931	P	0.42456	0.78	B	0.32677	0.15	T	0.23190	-1.0195	10	0.37606	T	0.19	.	6.8975	0.24265	0.2344:0.0:0.7656:0.0	.	416	Q6IWH7	ANO7_HUMAN	Q	416;415	ENSP00000274979:R416Q;ENSP00000385418:R415Q	ENSP00000274979:R416Q	R	+	2	0	ANO7	241797380	0.000000	0.05858	0.997000	0.53966	0.420000	0.31355	-0.029000	0.12329	1.399000	0.46721	0.313000	0.20887	CGG	ANO7	-	pfam_Anoctamin		0.642	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO7	HGNC	protein_coding	OTTHUMT00000323509.1	G	NM_001001891		242148707	+1	no_errors	ENST00000274979	ensembl	human	known	70_37	missense	SNP	0.957	A
ATP1A3	478	genome.wustl.edu	37	19	42490090	42490090	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr19:42490090C>A	ENST00000302102.5	-	6	682	c.532G>T	c.(532-534)Ggg>Tgg	p.G178W	ATP1A3_ENST00000545399.1_Missense_Mutation_p.G191W|ATP1A3_ENST00000468774.2_5'Flank|ATP1A3_ENST00000543770.1_Missense_Mutation_p.G189W|ATP1A3_ENST00000602133.1_Missense_Mutation_p.G148W	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	178					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						ACCAGGTCCCCGACCACCACC	0.632																																																	0													176.0	152.0	160.0					19																	42490090		2203	4300	6503	SO:0001583	missense	478				CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.532G>T	19.37:g.42490090C>A	ENSP00000302397:p.Gly178Trp		B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.G178W	ENST00000302102.5	37	c.532	CCDS12594.1	19	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020922	0.75275	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000543770	D;D;D;D	0.97352	-4.35;-4.35;-4.35;-4.35	3.75	3.75	0.43078	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.99254	0.9740	H	0.99927	4.965	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97887	1.0295	10	0.87932	D	0	.	13.4267	0.61030	0.0:1.0:0.0:0.0	.	191;189;178;178	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	W	178;178;191;148;189	ENSP00000302397:G178W;ENSP00000411503:G178W;ENSP00000444688:G191W;ENSP00000437577:G189W	ENSP00000302397:G178W	G	-	1	0	ATP1A3	47181930	1.000000	0.71417	0.998000	0.56505	0.831000	0.47069	7.686000	0.84128	1.833000	0.53350	0.313000	0.20887	GGG	ATP1A3	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr		0.632	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	ATP1A3	HGNC	protein_coding	OTTHUMT00000268107.1	C	NM_152296		42490090	-1	no_errors	ENST00000302102	ensembl	human	known	70_37	missense	SNP	1.000	A
ATP1A3	478	genome.wustl.edu	37	19	42492666	42492666	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr19:42492666G>A	ENST00000302102.5	-	2	205	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C	ATP1A3_ENST00000545399.1_Missense_Mutation_p.R32C|ATP1A3_ENST00000468774.2_5'UTR|ATP1A3_ENST00000543770.1_Missense_Mutation_p.R30C|ATP1A3_ENST00000602133.1_5'UTR	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	19					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AGGTCCCGGCGCTCCTTGCCC	0.592																																																	0													289.0	226.0	247.0					19																	42492666		2203	4300	6503	SO:0001583	missense	478				CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.55C>T	19.37:g.42492666G>A	ENSP00000302397:p.Arg19Cys		B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.R19C	ENST00000302102.5	37	c.55	CCDS12594.1	19	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787831	0.70337	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000543770;ENST00000448429	D;D;D;D	0.94966	-3.46;-3.57;-3.45;-3.45	4.07	2.93	0.34026	.	0.316576	0.30311	N	0.009919	D	0.88437	0.6436	N	0.08118	0	0.43971	D	0.996652	B;D;D;D	0.65815	0.323;0.995;0.994;0.992	B;P;P;B	0.49502	0.205;0.599;0.613;0.28	D	0.88476	0.3065	10	0.72032	D	0.01	.	8.5297	0.33326	0.0:0.0:0.7696:0.2304	.	32;30;19;19	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	C	19;19;32;30;32	ENSP00000302397:R19C;ENSP00000411503:R19C;ENSP00000444688:R32C;ENSP00000437577:R30C	ENSP00000302397:R19C	R	-	1	0	ATP1A3	47184506	0.984000	0.35163	1.000000	0.80357	0.991000	0.79684	2.370000	0.44240	2.028000	0.59812	0.479000	0.44913	CGC	ATP1A3	-	tigrfam_ATPase_P-typ_cation-ex_asu_euk		0.592	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	ATP1A3	HGNC	protein_coding	OTTHUMT00000268107.1	G	NM_152296		42492666	-1	no_errors	ENST00000302102	ensembl	human	known	70_37	missense	SNP	1.000	A
BACH2	60468	genome.wustl.edu	37	6	90718534	90718534	+	Silent	SNP	G	G	T			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr6:90718534G>T	ENST00000257749.4	-	6	737	c.30C>A	c.(28-30)ccC>ccA	p.P10P	BACH2_ENST00000343122.3_Silent_p.P10P|BACH2_ENST00000537989.1_Silent_p.P10P	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	10						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		ACACATACATGGGGGAGTCAG	0.478																																																	0													142.0	134.0	137.0					6																	90718534		2203	4300	6503	SO:0001819	synonymous_variant	60468			AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.30C>A	6.37:g.90718534G>T			E1P518|Q59H70|Q5T793|Q9NTS5	Silent	SNP	pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.P10	ENST00000257749.4	37	c.30	CCDS5026.1	6																																																																																			BACH2	-	superfamily_BTB/POZ_fold		0.478	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	BACH2	HGNC	protein_coding	OTTHUMT00000041522.2	G	NM_021813		90718534	-1	no_errors	ENST00000257749	ensembl	human	known	70_37	silent	SNP	1.000	T
BMP1	649	genome.wustl.edu	37	8	22056742	22056742	+	Intron	SNP	C	C	A			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr8:22056742C>A	ENST00000306385.5	+	15	2777				BMP1_ENST00000306349.8_Intron|BMP1_ENST00000354870.5_Intron|BMP1_ENST00000397816.3_Missense_Mutation_p.P772H	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		AGGCTCAGCCCTCAGGGCCCG	0.612																																																	0													56.0	65.0	62.0					8																	22056742		2203	4300	6503	SO:0001627	intron_variant	649				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2107+1809C>A	8.37:g.22056742C>A			A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A	p.P772H	ENST00000306385.5	37	c.2315	CCDS6026.1	8	.	.	.	.	.	.	.	.	.	.	C	9.785	1.176414	0.21704	.	.	ENSG00000168487	ENST00000397816	T	0.65549	-0.16	4.91	-1.45	0.08828	.	.	.	.	.	T	0.43500	0.1250	.	.	.	0.09310	N	1	P	0.34522	0.455	B	0.30782	0.12	T	0.35699	-0.9778	8	0.87932	D	0	.	2.9212	0.05770	0.3152:0.3269:0.0:0.3579	.	772	P13497-6	.	H	772	ENSP00000380917:P772H	ENSP00000380917:P772H	P	+	2	0	BMP1	22112687	0.667000	0.27484	0.082000	0.20525	0.627000	0.37826	0.947000	0.29082	-0.292000	0.08999	0.407000	0.27541	CCT	BMP1	-	pirsf_BMP_1/tolloid-like		0.612	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP1	HGNC	protein_coding	OTTHUMT00000214995.2	C	NM_006132		22056742	+1	no_errors	ENST00000397816	ensembl	human	known	70_37	missense	SNP	0.000	A
BTN3A3	10384	genome.wustl.edu	37	6	26446061	26446061	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr6:26446061C>T	ENST00000244519.2	+	5	806	c.563C>T	c.(562-564)cCg>cTg	p.P188L	BTN3A3_ENST00000361232.3_Missense_Mutation_p.P146L|BTN3A3_ENST00000339789.4_Missense_Mutation_p.P146L	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	188	Ig-like V-type 2.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GAGAACATCCCGGCTGTGGAA	0.562																																																	0													137.0	124.0	129.0					6																	26446061		2203	4300	6503	SO:0001583	missense	10384			U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.563C>T	6.37:g.26446061C>T	ENSP00000244519:p.Pro188Leu		B4DWI7|E9PCP5	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin	p.P188L	ENST00000244519.2	37	c.563	CCDS4611.1	6	.	.	.	.	.	.	.	.	.	.	C	9.938	1.216682	0.22373	.	.	ENSG00000111801	ENST00000244519;ENST00000339789;ENST00000361232;ENST00000496719;ENST00000487272	T;T;T;T;T	0.06294	3.32;3.32;3.32;3.32;3.32	3.1	0.127	0.14727	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01976	0.0062	L	0.58428	1.81	0.09310	N	1	B;B	0.24768	0.111;0.111	B;B	0.14578	0.011;0.011	T	0.42565	-0.9444	9	0.34782	T	0.22	.	5.9189	0.19070	0.0:0.5995:0.0:0.4005	.	146;188	E9PCP5;O00478	.;BT3A3_HUMAN	L	188;146;146;188;146	ENSP00000244519:P188L;ENSP00000344968:P146L;ENSP00000355238:P146L;ENSP00000420147:P188L;ENSP00000419445:P146L	ENSP00000244519:P188L	P	+	2	0	BTN3A3	26554040	0.001000	0.12720	0.000000	0.03702	0.008000	0.06430	0.683000	0.25349	-0.132000	0.11557	0.462000	0.41574	CCG	BTN3A3	-	pfscan_Ig-like		0.562	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	BTN3A3	HGNC	protein_coding	OTTHUMT00000040116.2	C	NM_006994		26446061	+1	no_errors	ENST00000244519	ensembl	human	known	70_37	missense	SNP	0.000	T
BVES-AS1	154442	genome.wustl.edu	37	6	105602314	105602314	+	RNA	SNP	A	A	G			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr6:105602314A>G	ENST00000369122.3	+	0	342				BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA|BVES-AS1_ENST00000369120.2_RNA	NR_037157.1		Q5T3Y7	BVAS1_HUMAN	BVES antisense RNA 1																		GCGGAGAGCAAATGAATTTCC	0.423																																																	0																																												154442			AL137368		6q21	2012-10-12	2012-08-15	2012-02-06	ENSG00000203808	ENSG00000203808		"""Long non-coding RNAs"""	21223	non-coding RNA	RNA, long non-coding			"""chromosome 6 open reading frame 112"", ""BVES antisense RNA 1 (non-protein coding)"""	C6orf112			Standard	NR_037157		Approved	bA99L11.2	uc003pqz.3	Q5T3Y7	OTTHUMG00000015292		6.37:g.105602314A>G			Q5T552	RNA	SNP	-	NULL	ENST00000369122.3	37	NULL		6																																																																																			BVES-AS1	-	-		0.423	BVES-AS1-001	KNOWN	basic	antisense	BVES-AS1	HGNC	antisense	OTTHUMT00000041649.1	A	NR_037157		105602314	+1	no_errors	ENST00000369120	ensembl	human	known	70_37	rna	SNP	0.498	G
C1orf64	149563	genome.wustl.edu	37	1	16332652	16332652	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr1:16332652G>T	ENST00000329454.2	+	2	389	c.321G>T	c.(319-321)agG>agT	p.R107S	RP11-5P18.5_ENST00000437156.1_RNA	NM_178840.2	NP_849162.1	Q8NEQ6	CA064_HUMAN	chromosome 1 open reading frame 64	107										breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		CCCAGGCCAGGGCCACCCTGC	0.642																																																	0													46.0	47.0	47.0					1																	16332652		2203	4300	6503	SO:0001583	missense	149563			AK127425	CCDS166.1	1p36.13	2013-10-11			ENSG00000183888	ENSG00000183888			28339	protein-coding gene	gene with protein product	"""ER-related factor"""					22341523	Standard	NM_178840		Approved	MGC24047, ERRF	uc001axn.3	Q8NEQ6	OTTHUMG00000009523	ENST00000329454.2:c.321G>T	1.37:g.16332652G>T	ENSP00000332162:p.Arg107Ser		B3KXI9	Missense_Mutation	SNP	NULL	p.R107S	ENST00000329454.2	37	c.321	CCDS166.1	1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456010	0.63401	.	.	ENSG00000183888	ENST00000329454	T	0.49139	0.79	5.15	4.22	0.49857	.	1.177270	0.06100	N	0.665215	T	0.36110	0.0955	N	0.19112	0.55	0.09310	N	1	B	0.28636	0.218	B	0.28011	0.085	T	0.14671	-1.0464	10	0.41790	T	0.15	-0.4521	9.9603	0.41693	0.097:0.0:0.903:0.0	.	107	Q8NEQ6	CA064_HUMAN	S	107	ENSP00000332162:R107S	ENSP00000332162:R107S	R	+	3	2	C1orf64	16205239	0.002000	0.14202	0.010000	0.14722	0.020000	0.10135	0.993000	0.29680	2.417000	0.82017	0.563000	0.77884	AGG	C1orf64	-	NULL		0.642	C1orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf64	HGNC	protein_coding	OTTHUMT00000026317.1	G	NM_178840		16332652	+1	no_errors	ENST00000329454	ensembl	human	known	70_37	missense	SNP	0.003	T
C22orf31	25770	genome.wustl.edu	37	22	29454963	29454963	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr22:29454963G>T	ENST00000216071.4	-	3	691	c.640C>A	c.(640-642)Cag>Aag	p.Q214K		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	214										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						TACAGAGCCTGGTAACCCTCT	0.562																																																	0													89.0	85.0	86.0					22																	29454963		2203	4300	6503	SO:0001583	missense	25770			AL035364	CCDS13848.1	22q12.1	2006-07-05			ENSG00000100249	ENSG00000100249			26931	protein-coding gene	gene with protein product						15461802	Standard	XM_005261490		Approved	HS747E2A, bK747E2.1	uc003aej.1	O95567	OTTHUMG00000151011	ENST00000216071.4:c.640C>A	22.37:g.29454963G>T	ENSP00000216071:p.Gln214Lys		A0AV97	Missense_Mutation	SNP	NULL	p.Q214K	ENST00000216071.4	37	c.640	CCDS13848.1	22	.	.	.	.	.	.	.	.	.	.	G	7.186	0.590518	0.13812	.	.	ENSG00000100249	ENST00000216071	T	0.27104	1.69	5.64	-1.9	0.07665	.	0.801275	0.10709	N	0.643095	T	0.10078	0.0247	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30880	-0.9963	10	0.28530	T	0.3	-1.7723	4.5357	0.12028	0.0776:0.1227:0.2616:0.538	.	214	O95567	CV031_HUMAN	K	214	ENSP00000216071:Q214K	ENSP00000216071:Q214K	Q	-	1	0	C22orf31	27784963	0.078000	0.21339	0.883000	0.34634	0.545000	0.35147	0.011000	0.13264	0.120000	0.18254	0.650000	0.86243	CAG	C22orf31	-	NULL		0.562	C22orf31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C22orf31	HGNC	protein_coding	OTTHUMT00000320952.1	G	NM_015370		29454963	-1	no_errors	ENST00000216071	ensembl	human	known	70_37	missense	SNP	0.142	T
CEACAM18	729767	genome.wustl.edu	37	19	51986481	51986481	+	Missense_Mutation	SNP	G	G	A	rs267605617		TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr19:51986481G>A	ENST00000396477.4	+	4	905	c.884G>A	c.(883-885)cGa>cAa	p.R295Q	CEACAM18_ENST00000451626.1_Missense_Mutation_p.R356Q	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	295	Ig-like C2-type.									breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGCCGTTACCGATGCACTGTG	0.557																																																	0								A	GLN/ARG	0,4182		0,0,2091	111.0	111.0	111.0		1067	0.6	0.0	19		111	1,8457		0,1,4228	no	missense	CEACAM18	NM_001080405.1	43	0,1,6319	AA,AG,GG		0.0118,0.0,0.0079	probably-damaging	356/399	51986481	1,12639	2091	4229	6320	SO:0001583	missense	729767					19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.884G>A	19.37:g.51986481G>A	ENSP00000379738:p.Arg295Gln		C9JN24	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R356Q	ENST00000396477.4	37	c.1067		19	.	.	.	.	.	.	.	.	.	.	.	10.36	1.327929	0.24080	0.0	1.18E-4	ENSG00000213822	ENST00000451626;ENST00000451086;ENST00000396477	T	0.13307	2.6	2.76	0.555	0.17247	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.20455	0.0492	L	0.56396	1.775	0.09310	N	1	D	0.64830	0.994	P	0.61940	0.896	T	0.16897	-1.0387	9	0.07644	T	0.81	-14.7448	5.1795	0.15152	0.2875:0.0:0.7125:0.0	.	356	A8MTB9	CEA18_HUMAN	Q	356;295;295	ENSP00000402203:R356Q	ENSP00000379738:R295Q	R	+	2	0	CEACAM18	56678293	0.942000	0.31987	0.002000	0.10522	0.012000	0.07955	0.448000	0.21726	0.267000	0.21916	-0.365000	0.07479	CGA	CEACAM18	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.557	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	CEACAM18	HGNC	protein_coding	OTTHUMT00000323114.2	G			51986481	+1	no_errors	ENST00000451626	ensembl	human	known	70_37	missense	SNP	0.002	A
CENPE	1062	genome.wustl.edu	37	4	104027424	104027424	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr4:104027424C>T	ENST00000265148.3	-	49	8150	c.8061G>A	c.(8059-8061)tgG>tgA	p.W2687*	CENPE_ENST00000380026.3_Nonsense_Mutation_p.W2566*	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2687	Globular autoinhibitory domain. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AGGAGGCGTGCCAAGGACCTG	0.433																																																	0													109.0	101.0	104.0					4																	104027424		2203	4300	6503	SO:0001587	stop_gained	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.8061G>A	4.37:g.104027424C>T	ENSP00000265148:p.Trp2687*		A6NKY9|A8K2U7|Q4LE75	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.W2687*	ENST00000265148.3	37	c.8061	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	C	45	11.631855	0.99585	.	.	ENSG00000138778	ENST00000265148;ENST00000380026	.	.	.	4.65	0.679	0.17975	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.3999	0.26958	0.3068:0.4027:0.2905:0.0	.	.	.	.	X	2687;2566	.	ENSP00000265148:W2687X	W	-	3	0	CENPE	104246873	0.005000	0.15991	0.001000	0.08648	0.003000	0.03518	0.374000	0.20501	-0.130000	0.11599	0.650000	0.86243	TGG	CENPE	-	NULL		0.433	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		C			104027424	-1	no_errors	ENST00000265148	ensembl	human	known	70_37	nonsense	SNP	0.009	T
CHM	1121	genome.wustl.edu	37	X	85128100	85128100	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chrX:85128100G>C	ENST00000357749.2	-	14	1756	c.1727C>G	c.(1726-1728)tCt>tGt	p.S576C	CHM_ENST00000537751.1_Missense_Mutation_p.S428C|CHM_ENST00000467744.2_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	576					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				ATCTGGGCCAGAGCAGACATA	0.398																																																	0													102.0	88.0	92.0					X																	85128100		2203	4300	6503	SO:0001583	missense	1121			X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.1727C>G	X.37:g.85128100G>C	ENSP00000350386:p.Ser576Cys		A1L4D2|O43732	Missense_Mutation	SNP	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor	p.S576C	ENST00000357749.2	37	c.1727	CCDS14454.1	X	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700605	0.48307	.	.	ENSG00000188419	ENST00000357749;ENST00000537751	T;T	0.59364	0.27;0.27	5.03	5.03	0.67393	.	0.188097	0.47852	D	0.000220	T	0.55465	0.1922	L	0.55481	1.735	0.42889	D	0.994194	P	0.42735	0.788	B	0.42319	0.383	T	0.59989	-0.7350	10	0.48119	T	0.1	-12.9817	13.4844	0.61357	0.0:0.1524:0.8476:0.0	.	576	P24386	RAE1_HUMAN	C	576;428	ENSP00000350386:S576C;ENSP00000441728:S428C	ENSP00000350386:S576C	S	-	2	0	CHM	85014756	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.138000	0.58017	2.217000	0.71921	0.594000	0.82650	TCT	CHM	-	pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort		0.398	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHM	HGNC	protein_coding	OTTHUMT00000057396.3	G	NM_000390		85128100	-1	no_errors	ENST00000357749	ensembl	human	known	70_37	missense	SNP	1.000	C
CIB2	10518	genome.wustl.edu	37	15	78398263	78398263	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr15:78398263G>T	ENST00000258930.3	-	5	688	c.360C>A	c.(358-360)gaC>gaA	p.D120E	CIB2_ENST00000539011.1_Missense_Mutation_p.D77E|CIB2_ENST00000557846.1_Missense_Mutation_p.D71E|CIB2_ENST00000560618.1_Missense_Mutation_p.D77E	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	120	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion homeostasis (GO:0055074)|photoreceptor cell maintenance (GO:0045494)	blood microparticle (GO:0072562)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|photoreceptor inner segment (GO:0001917)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						AGATGAAGTTGTCAGTGTTGA	0.577																																																	0													185.0	138.0	154.0					15																	78398263		2196	4293	6489	SO:0001583	missense	10518			BC047381	CCDS10296.1, CCDS61722.1, CCDS61723.1	15q24	2013-01-10			ENSG00000136425	ENSG00000136425		"""EF-hand domain containing"""	24579	protein-coding gene	gene with protein product		605564	"""deafness, autosomal recessive 48"", ""Usher syndrome 1J (autosomal recessive)"""	DFNB48, USH1J		9931475, 23023331	Standard	NM_006383		Approved	KIP2	uc002bdb.2	O75838	OTTHUMG00000143731	ENST00000258930.3:c.360C>A	15.37:g.78398263G>T	ENSP00000258930:p.Asp120Glu		B4DDF0|H0YM71|Q05BT6	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.D120E	ENST00000258930.3	37	c.360	CCDS10296.1	15	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768227	0.69878	.	.	ENSG00000136425	ENST00000258930;ENST00000539011	T;T	0.76968	-1.06;-1.06	4.55	4.55	0.56014	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.88485	0.6449	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.89941	0.4073	10	0.87932	D	0	-18.2762	10.6248	0.45502	0.0952:0.0:0.9048:0.0	.	120;120	B4DDF0;O75838	.;CIB2_HUMAN	E	120;77	ENSP00000258930:D120E;ENSP00000442459:D77E	ENSP00000258930:D120E	D	-	3	2	CIB2	76185318	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.182000	0.58310	2.074000	0.62210	0.478000	0.44815	GAC	CIB2	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.577	CIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIB2	HGNC	protein_coding	OTTHUMT00000289798.1	G	NM_006383		78398263	-1	no_errors	ENST00000258930	ensembl	human	known	70_37	missense	SNP	1.000	T
COL24A1	255631	genome.wustl.edu	37	1	86499587	86499587	+	Missense_Mutation	SNP	C	C	T	rs184891690	byFrequency	TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr1:86499587C>T	ENST00000370571.2	-	13	2336	c.1970G>A	c.(1969-1971)gGa>gAa	p.G657E	COL24A1_ENST00000436319.1_Missense_Mutation_p.G657E	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	657					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GCCTCTGTCTCCAAAGTCACC	0.388																																																	0													65.0	67.0	66.0					1																	86499587		1927	4126	6053	SO:0001583	missense	255631			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1970G>A	1.37:g.86499587C>T	ENSP00000359603:p.Gly657Glu		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.G657E	ENST00000370571.2	37	c.1970	CCDS41353.1	1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988940	0.53934	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.99532	-6.1;-6.1	5.36	5.36	0.76844	.	0.000000	0.38720	N	0.001589	D	0.99785	0.9910	H	0.96208	3.785	0.52501	D	0.999958	D	0.89917	1.0	D	0.97110	1.0	D	0.97089	0.9789	10	0.87932	D	0	.	15.7911	0.78364	0.0:1.0:0.0:0.0	.	657	Q17RW2	COOA1_HUMAN	E	657	ENSP00000359603:G657E;ENSP00000392531:G657E	ENSP00000359603:G657E	G	-	2	0	COL24A1	86272175	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.010000	0.57117	2.489000	0.83994	0.655000	0.94253	GGA	COL24A1	-	NULL		0.388	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4	C	NM_152890		86499587	-1	no_errors	ENST00000370571	ensembl	human	known	70_37	missense	SNP	1.000	T
CRX	1406	genome.wustl.edu	37	19	48337769	48337769	+	Silent	SNP	G	G	T			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr19:48337769G>T	ENST00000221996.7	+	2	275	c.69G>T	c.(67-69)gtG>gtT	p.V23V	CRX_ENST00000539067.1_Silent_p.V23V|TPRX2P_ENST00000535362.1_Silent_p.V23V	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	23					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		GCCCCAGTGTGGATCTGATGC	0.587																																					Pancreas(57;461 1196 22201 40716 47188)												0													79.0	66.0	71.0					19																	48337769		2203	4300	6503	SO:0001819	synonymous_variant	1406			AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"""Homeoboxes / PRD class"""	2383	protein-coding gene	gene with protein product	"""orthodenticle homeobox 3"""	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.69G>T	19.37:g.48337769G>T			Q0QD45	Silent	SNP	pfam_Homeodomain,pfam_Otx_TF_C,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.V23	ENST00000221996.7	37	c.69	CCDS12706.1	19																																																																																			CRX	-	superfamily_Homeodomain-like		0.587	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRX	HGNC	protein_coding	OTTHUMT00000409812.4	G	NM_000554		48337769	+1	no_errors	ENST00000221996	ensembl	human	known	70_37	silent	SNP	1.000	T
CSMD1	64478	genome.wustl.edu	37	8	3009006	3009006	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr8:3009006C>A	ENST00000520002.1	-	41	6502	c.5947G>T	c.(5947-5949)Ggt>Tgt	p.G1983C	CSMD1_ENST00000542608.1_Missense_Mutation_p.G1982C|CSMD1_ENST00000602557.1_Missense_Mutation_p.G1983C|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1982C|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1982C|CSMD1_ENST00000602723.1_Missense_Mutation_p.G1983C|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1983C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1983	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATCACACCACCCAAGGTGCTC	0.527																																																	0													76.0	84.0	81.0					8																	3009006		2130	4267	6397	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.5947G>T	8.37:g.3009006C>A	ENSP00000430733:p.Gly1983Cys		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.G1983C	ENST00000520002.1	37	c.5947		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.04|10.04	1.241386|1.241386	0.22711|0.22711	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.18016|.	2.24;2.24;2.24;2.24;2.24|.	4.89|4.89	0.117|0.117	0.14652|0.14652	CUB (5);|.	0.453294|0.453294	0.22847|0.22847	N|N	0.054917|0.054917	T|T	0.43831|0.43831	0.1265|0.1265	M|M	0.69823|0.69823	2.125|2.125	0.09310|0.09310	N|N	1|1	P;P;D;B|.	0.56746|.	0.908;0.712;0.977;0.045|.	P;P;P;B|.	0.57548|.	0.784;0.676;0.823;0.094|.	T|T	0.32375|0.32375	-0.9909|-0.9909	10|6	0.62326|.	D|.	0.03|.	.|.	6.1912|6.1912	0.20526|0.20526	0.0:0.5231:0.1315:0.3454|0.0:0.5231:0.1315:0.3454	.|.	1983;1983;1982;1983|.	E5RIG2;Q96PZ7;F5H2I8;Q96PZ7-4|.	.;CSMD1_HUMAN;.;.|.	C|V	1983;1983;1844;1982;1982;1982|1462	ENSP00000383047:G1983C;ENSP00000430733:G1983C;ENSP00000441462:G1982C;ENSP00000446243:G1982C;ENSP00000441675:G1982C|.	ENSP00000320445:G1844C|.	G|G	-|-	1|2	0|0	CSMD1|CSMD1	2996413|2996413	0.092000|0.092000	0.21681|0.21681	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.501000|0.501000	0.22578|0.22578	0.073000|0.073000	0.16731|0.16731	-0.182000|-0.182000	0.12963|0.12963	GGT|GGG	CSMD1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.527	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	C	NM_033225		3009006	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	missense	SNP	0.012	A
ELFN2	114794	genome.wustl.edu	37	22	37771911	37771911	+	5'UTR	SNP	G	G	C			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr22:37771911G>C	ENST00000402918.2	-	0	449				ELFN2_ENST00000435824.1_5'UTR|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2						negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					cctcctcctcgtcttcctcct	0.602																																																	0																																										SO:0001623	5_prime_UTR_variant	0			BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.-337C>G	22.37:g.37771911G>C			Q96PY3	RNA	SNP	-	NULL	ENST00000402918.2	37	NULL	CCDS33642.1	22																																																																																			RP1-63G5.5	-	-		0.602	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000243902	Clone_based_vega_gene	protein_coding	OTTHUMT00000318900.2	G	NM_052906		37771911	-1	no_errors	ENST00000414347	ensembl	human	known	70_37	rna	SNP	0.045	C
FAM187A	100528020	genome.wustl.edu	37	17	42981563	42981563	+	Silent	SNP	G	G	T			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr17:42981563G>T	ENST00000331733.4	+	4	2202	c.366G>T	c.(364-366)ctG>ctT	p.L122L	CCDC103_ENST00000417826.2_3'UTR|FAM187A_ENST00000412523.2_Silent_p.L122L|AC015936.3_ENST00000441312.1_RNA	NM_001258399.1|NM_213607.2	NP_001245328.1|NP_998772.1	A6NFU0	F187A_HUMAN	family with sequence similarity 187, member A	122						integral component of membrane (GO:0016021)											ACTCAGGCCTGTACTTCTGCG	0.582																																																	0																																										SO:0001819	synonymous_variant	100528020					17q21.31	2013-01-11			ENSG00000214447	ENSG00000214447		"""Immunoglobulin superfamily / V-set domain containing"""	35153	protein-coding gene	gene with protein product							Standard			Approved		uc002ihp.1	A6NFU0	OTTHUMG00000154266	ENST00000331733.4:c.366G>T	17.37:g.42981563G>T				Silent	SNP	pfam_Ig_V-set,pfscan_Ig-like	p.L122	ENST00000331733.4	37	c.366		17																																																																																			FAM187A	-	pfam_Ig_V-set		0.582	FAM187A-001	KNOWN	basic|appris_principal	protein_coding	FAM187A	HGNC	protein_coding	OTTHUMT00000334584.1	G			42981563	+1	no_errors	ENST00000331733	ensembl	human	known	70_37	silent	SNP	0.998	T
FBXL5	26234	genome.wustl.edu	37	4	15607405	15607405	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr4:15607405C>A	ENST00000341285.3	-	11	2141	c.2017G>T	c.(2017-2019)Gcc>Tcc	p.A673S	FBXL5_ENST00000412094.2_Missense_Mutation_p.A656S|FBXL5_ENST00000382358.4_Missense_Mutation_p.A547S	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	673					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						CATCCACTGGCGGTATCAGCA	0.413																																																	0													69.0	62.0	64.0					4																	15607405		2203	4300	6503	SO:0001583	missense	26234			AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"""F-boxes / Leucine-rich repeats"""	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.2017G>T	4.37:g.15607405C>A	ENSP00000344866:p.Ala673Ser		A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,pfam_Leu-rich_rpt,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.A673S	ENST00000341285.3	37	c.2017	CCDS3415.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.088830|5.088830	0.94100|0.94100	.|.	.|.	ENSG00000118564|ENSG00000118564	ENST00000341285;ENST00000412094;ENST00000382358|ENST00000513163	T;T;T|.	0.17054|.	2.3;2.3;2.3|.	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75860|0.75860	0.3907|0.3907	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.995|.	T|T	0.72431|0.72431	-0.4296|-0.4296	10|5	0.87932|.	D|.	0|.	-9.2638|-9.2638	20.1731|20.1731	0.98165|0.98165	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	656;673|.	Q9UKA1-2;Q9UKA1|.	.;FBXL5_HUMAN|.	S|L	673;656;547|593	ENSP00000344866:A673S;ENSP00000408679:A656S;ENSP00000371795:A547S|.	ENSP00000344866:A673S|.	A|R	-|-	1|2	0|0	FBXL5|FBXL5	15216503|15216503	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.786000|7.786000	0.85741|0.85741	2.768000|2.768000	0.95171|0.95171	0.655000|0.655000	0.94253|0.94253	GCC|CGC	FBXL5	-	NULL		0.413	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL5	HGNC	protein_coding	OTTHUMT00000214235.2	C			15607405	-1	no_errors	ENST00000341285	ensembl	human	known	70_37	missense	SNP	1.000	A
FBXO46	23403	genome.wustl.edu	37	19	46215154	46215154	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr19:46215154G>A	ENST00000317683.3	-	2	1733	c.1600C>T	c.(1600-1602)Cgc>Tgc	p.R534C		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	534										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		TATCTCTTGCGGCACTGTTTG	0.632																																																	0													54.0	56.0	56.0					19																	46215154		2141	4243	6384	SO:0001583	missense	23403			BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"""F-boxes /  ""other"""""	25069	protein-coding gene	gene with protein product		609117	"""F-box only protein 34-like"""	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.1600C>T	19.37:g.46215154G>A	ENSP00000410007:p.Arg534Cys			Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.R534C	ENST00000317683.3	37	c.1600	CCDS46116.1	19	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332841	0.60853	.	.	ENSG00000177051	ENST00000317683	T	0.22134	1.97	5.07	2.8	0.32819	F-box domain, Skp2-like (1);	.	.	.	.	T	0.21631	0.0521	N	0.14661	0.345	0.46011	D	0.998813	D	0.89917	1.0	D	0.63113	0.911	T	0.05767	-1.0865	9	0.87932	D	0	-20.3402	5.563	0.17154	0.0955:0.0:0.5939:0.3106	.	534	Q6PJ61	FBX46_HUMAN	C	534	ENSP00000410007:R534C	ENSP00000410007:R534C	R	-	1	0	FBXO46	50906994	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.144000	0.50616	1.149000	0.42402	-0.373000	0.07131	CGC	FBXO46	-	superfamily_F-box_dom_cyclin-like		0.632	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO46	HGNC	protein_coding	OTTHUMT00000459661.1	G	XM_371179		46215154	-1	no_errors	ENST00000317683	ensembl	human	known	70_37	missense	SNP	1.000	A
FSTL1	11167	genome.wustl.edu	37	3	120128391	120128391	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr3:120128391G>T	ENST00000295633.3	-	6	806	c.450C>A	c.(448-450)gaC>gaA	p.D150E	FSTL1_ENST00000424703.2_Missense_Mutation_p.D115E	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	150	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				BMP signaling pathway (GO:0030509)|response to starvation (GO:0042594)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		TAAAATACTTGTCTAGGATTT	0.502																																																	0													114.0	105.0	108.0					3																	120128391		2203	4300	6503	SO:0001583	missense	11167			U06863	CCDS2998.1	3q13.33	2013-01-10			ENSG00000163430	ENSG00000163430		"""EF-hand domain containing"""	3972	protein-coding gene	gene with protein product		605547				7957230, 9786430	Standard	NM_007085		Approved	FRP, FSL1	uc003eds.3	Q12841	OTTHUMG00000159440	ENST00000295633.3:c.450C>A	3.37:g.120128391G>T	ENSP00000295633:p.Asp150Glu		A8K523|B4DTT5|D3DN90|Q549Z0	Missense_Mutation	SNP	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pfscan_EF_HAND_2	p.D150E	ENST00000295633.3	37	c.450	CCDS2998.1	3	.	.	.	.	.	.	.	.	.	.	G	5.111	0.206068	0.09704	.	.	ENSG00000163430	ENST00000295633;ENST00000539471;ENST00000424703	T;T	0.06142	3.34;3.34	5.24	3.45	0.39498	EF-hand-like domain (1);	0.157809	0.56097	D	0.000027	T	0.05547	0.0146	L	0.46157	1.445	0.33437	D	0.581851	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.30563	-0.9974	10	0.02654	T	1	-35.7293	10.6184	0.45465	0.1544:0.0:0.8456:0.0	.	115;150	B4DTT5;Q12841	.;FSTL1_HUMAN	E	150;93;115	ENSP00000295633:D150E;ENSP00000394355:D115E	ENSP00000295633:D150E	D	-	3	2	FSTL1	121611081	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.998000	0.49465	0.612000	0.30071	0.655000	0.94253	GAC	FSTL1	-	NULL		0.502	FSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSTL1	HGNC	protein_coding	OTTHUMT00000355399.1	G	NM_007085		120128391	-1	no_errors	ENST00000295633	ensembl	human	known	70_37	missense	SNP	1.000	T
GPR17	2840	genome.wustl.edu	37	2	128409331	128409331	+	3'UTR	SNP	C	C	T	rs372407392		TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr2:128409331C>T	ENST00000272644.3	+	0	1180				LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000410011.1_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000409254.1_5'Flank|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000544369.1_3'UTR|LIMS2_ENST00000409455.1_Intron	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17						chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		GAGCTGTGAGCGGGGGGCGCC	0.627																																																	0								C	,,,,,,,	1,4405		0,1,2202	26.0	34.0	31.0		,,,,,,,	-0.1	0.4	2		31	0,8600		0,0,4300	no	intron,intron,intron,utr-3,utr-3,utr-3,utr-3,intron	GPR17,LIMS2	NM_001136037.2,NM_001161403.1,NM_001161404.1,NM_001161415.1,NM_001161416.1,NM_001161417.1,NM_005291.2,NM_017980.4	,,,,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,,,,	,,,,,,,	128409331	1,13005	2203	4300	6503	SO:0001624	3_prime_UTR_variant	2840				CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"""GPCR / Class A : Orphans"""	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.*2C>T	2.37:g.128409331C>T			A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	RNA	SNP	-	NULL	ENST00000272644.3	37	NULL	CCDS2148.1	2																																																																																			GPR17	-	-		0.627	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR17	HGNC	protein_coding	OTTHUMT00000254390.1	C			128409331	+1	no_errors	ENST00000486700	ensembl	human	known	70_37	rna	SNP	0.230	T
GSN	2934	genome.wustl.edu	37	9	124074856	124074857	+	Intron	INS	-	-	A			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr9:124074856_124074857insA	ENST00000373818.4	+	5	885				GSN_ENST00000412819.1_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000373807.1_Intron|GSN_ENST00000436847.1_Intron|GSN_ENST00000373808.2_Intron|GSN_ENST00000394353.2_Intron|GSN_ENST00000373823.3_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000485767.1_3'UTR|GSN_ENST00000545652.1_Intron	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin						actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						TGAATTTGAGGAAAAAAAAAAA	0.426																																																	0																																										SO:0001627	intron_variant	2934			X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.816+90->A	9.37:g.124074867_124074867dupA			A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	RNA	INS	-	NULL	ENST00000373818.4	37	NULL	CCDS6828.1	9																																																																																			GSN	-	-		0.426	GSN-001	KNOWN	basic|CCDS	protein_coding	GSN	HGNC	protein_coding	OTTHUMT00000053861.1	-	NM_000177		124074857	+1	no_errors	ENST00000485767	ensembl	human	known	70_37	rna	INS	0.003:0.000	A
HMGB1P5	10354	genome.wustl.edu	37	3	22424272	22424272	+	RNA	SNP	T	T	C			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr3:22424272T>C	ENST00000451497.1	+	0	837									high mobility group box 1 pseudogene 5																		TCATCTTCAGTTGTCTCTGAT	0.353																																																	0																																												10354			AF076677		3p24	2011-09-21	2011-04-05	2010-10-15	ENSG00000132967	ENSG00000132967		"""High mobility group / HMG-box pseudogenes"""	4997	pseudogene	pseudogene			"""high-mobility group (nonhistone chromosomal) protein 1-like 5"", ""high-mobility group (nonhistone chromosomal) protein 1-like 5 pseudogene"", ""high-mobility group box 1-like 5 pseudogene"", ""high-mobility group box 1-like 15"", ""high-mobility group box 1 pseudogene 2"", ""high-mobility group box 1-like 5"", ""high-mobility group box 1 pseudogene 5"""	HMG1L5, HMGB1L15, HMGB1P2, HMGB1L5		9925949	Standard	NG_000897		Approved				OTTHUMG00000155591		3.37:g.22424272T>C				RNA	SNP	-	NULL	ENST00000451497.1	37	NULL		3																																																																																			HMGB1P5	-	-		0.353	HMGB1P5-002	KNOWN	basic	processed_transcript	HMGB1P5	HGNC	pseudogene	OTTHUMT00000340803.1	T	NG_000897		22424272	+1	no_errors	ENST00000451497	ensembl	human	known	70_37	rna	SNP	0.995	C
HMGB1P5	10354	genome.wustl.edu	37	3	22424293	22424293	+	RNA	SNP	C	C	G	rs141464414	byFrequency	TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr3:22424293C>G	ENST00000451497.1	+	0	858									high mobility group box 1 pseudogene 5																		GCAGCTTATACGAAATAATTG	0.333																																																	0																																												10354			AF076677		3p24	2011-09-21	2011-04-05	2010-10-15	ENSG00000132967	ENSG00000132967		"""High mobility group / HMG-box pseudogenes"""	4997	pseudogene	pseudogene			"""high-mobility group (nonhistone chromosomal) protein 1-like 5"", ""high-mobility group (nonhistone chromosomal) protein 1-like 5 pseudogene"", ""high-mobility group box 1-like 5 pseudogene"", ""high-mobility group box 1-like 15"", ""high-mobility group box 1 pseudogene 2"", ""high-mobility group box 1-like 5"", ""high-mobility group box 1 pseudogene 5"""	HMG1L5, HMGB1L15, HMGB1P2, HMGB1L5		9925949	Standard	NG_000897		Approved				OTTHUMG00000155591		3.37:g.22424293C>G				RNA	SNP	-	NULL	ENST00000451497.1	37	NULL		3																																																																																			HMGB1P5	-	-		0.333	HMGB1P5-002	KNOWN	basic	processed_transcript	HMGB1P5	HGNC	pseudogene	OTTHUMT00000340803.1	C	NG_000897		22424293	+1	no_errors	ENST00000451497	ensembl	human	known	70_37	rna	SNP	0.996	G
KCNH7	90134	genome.wustl.edu	37	2	163393474	163393474	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr2:163393474C>T	ENST00000332142.5	-	3	523	c.424G>A	c.(424-426)Gag>Aag	p.E142K	KCNH7_ENST00000328032.4_Missense_Mutation_p.E142K	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	142	PAC.				circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TTTACCCTCTCTGGGGTGGCA	0.378																																					GBM(196;1492 2208 17507 24132 45496)												0													210.0	196.0	201.0					2																	163393474		2203	4300	6503	SO:0001583	missense	90134			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.424G>A	2.37:g.163393474C>T	ENSP00000331727:p.Glu142Lys		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS	p.E142K	ENST00000332142.5	37	c.424	CCDS2219.1	2	.	.	.	.	.	.	.	.	.	.	C	11.48	1.652741	0.29336	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.99545	-5.0;-6.13	5.56	3.75	0.43078	.	0.048847	0.85682	D	0.000000	D	0.98362	0.9456	L	0.43152	1.355	0.49213	D	0.999762	B;B	0.18166	0.002;0.026	B;B	0.16289	0.002;0.015	D	0.97467	1.0038	10	0.28530	T	0.3	.	16.2196	0.82251	0.0:0.7487:0.2513:0.0	.	142;142	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	K	142	ENSP00000331727:E142K;ENSP00000333781:E142K	ENSP00000333781:E142K	E	-	1	0	KCNH7	163101720	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	3.837000	0.55820	0.701000	0.31803	-0.264000	0.10439	GAG	KCNH7	-	NULL		0.378	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH7	HGNC	protein_coding	OTTHUMT00000255093.1	C	NM_033272		163393474	-1	no_errors	ENST00000332142	ensembl	human	known	70_37	missense	SNP	1.000	T
INPP5D	3635	genome.wustl.edu	37	2	234104109	234104109	+	Silent	SNP	C	C	T			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr2:234104109C>T	ENST00000359570.5	+	26	2625	c.2625C>T	c.(2623-2625)caC>caT	p.H875H	INPP5D_ENST00000455936.2_Silent_p.H639H|INPP5D_ENST00000450745.1_Silent_p.H639H			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	887					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCACCAGCCACGACCCCATGA	0.557																																					NSCLC(82;1215 1426 16163 20348 41018)												0													68.0	69.0	69.0					2																	234104109		1941	4129	6070	SO:0001819	synonymous_variant	3635			U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.2625C>T	2.37:g.234104109C>T			O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Silent	SNP	pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2	p.H875	ENST00000359570.5	37	c.2625		2																																																																																			INPP5D	-	NULL		0.557	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	INPP5D	HGNC	protein_coding		C	NM_001017915		234104109	+1	no_errors	ENST00000359570	ensembl	human	known	70_37	silent	SNP	0.118	T
KRT16P2	400578	genome.wustl.edu	37	17	16734868	16734868	+	RNA	SNP	C	C	T	rs568121759		TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr17:16734868C>T	ENST00000579062.1	-	0	447									keratin 16 pseudogene 2																		AGGGCCAGCTCATGCTCGTAA	0.632													N|||	1	0.000199681	0.0	0.0014	5008	,	,		23031	0.0		0.0	False		,,,				2504	0.0																0																																												400578					17p11.2	2010-02-25			ENSG00000227300	ENSG00000227300			37807	pseudogene	pseudogene							Standard	NR_029392		Approved		uc010vwr.1		OTTHUMG00000059177		17.37:g.16734868C>T				RNA	SNP	-	NULL	ENST00000579062.1	37	NULL		17																																																																																			KRT16P2	-	-		0.632	KRT16P2-002	KNOWN	basic	processed_transcript	KRT16P2	HGNC	pseudogene	OTTHUMT00000444288.2	C	NR_029392		16734868	-1	no_errors	ENST00000579062	ensembl	human	known	70_37	rna	SNP	1.000	T
LINC00969	440993	genome.wustl.edu	37	3	195400814	195400815	+	lincRNA	INS	-	-	TT	rs371598334		TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr3:195400814_195400815insTT	ENST00000445430.1	+	0	1410_1411									long intergenic non-protein coding RNA 969																		ACCTGGTTGTCTGGTCAGGCAT	0.574																																																	0																																												440993			AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400814_195400815insTT				Splice_Site	INS	-	NULL	ENST00000445430.1	37	c.NULL		3																																																																																			AC069513.3	-	-		0.574	LINC00969-038	KNOWN	basic	lincRNA	LOC440993	Clone_based_vega_gene	lincRNA	OTTHUMT00000341951.1	-			195400815	+1	no_errors	ENST00000414625	ensembl	human	known	70_37	splice_site_ins	INS	0.999:1.000	TT
MCL1	4170	genome.wustl.edu	37	1	150551971	150551971	+	Silent	SNP	G	G	T			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr1:150551971G>T	ENST00000369026.2	-	1	95	c.36C>A	c.(34-36)ctC>ctA	p.L12L	MCL1_ENST00000464132.1_5'Flank|MCL1_ENST00000307940.3_Silent_p.L12L	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia 1	12					apoptotic mitochondrial changes (GO:0008637)|cell fate determination (GO:0001709)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|protein transmembrane transport (GO:0071806)|regulation of response to DNA damage stimulus (GO:2001020)|response to cytokine (GO:0034097)	Bcl-2 family protein complex (GO:0097136)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	BH3 domain binding (GO:0051434)|protein channel activity (GO:0015266)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			AGTAGAGGTTGAGTCCGATTA	0.667																																																	0													9.0	14.0	12.0					1																	150551971		1312	2676	3988	SO:0001819	synonymous_variant	4170			BC017197	CCDS956.1, CCDS957.1, CCDS72909.1	1q21	2014-03-07	2014-03-07		ENSG00000143384	ENSG00000143384			6943	protein-coding gene	gene with protein product		159552	"""myeloid cell leukemia sequence 1 (BCL2-related)"""			7682708, 7835896	Standard	NM_021960		Approved	BCL2L3, Mcl-1	uc001euz.3	Q07820	OTTHUMG00000034867	ENST00000369026.2:c.36C>A	1.37:g.150551971G>T			B2R6B2|D3DV03|D3DV04|Q9HD91|Q9NRQ3|Q9NRQ4|Q9UHR7|Q9UHR8|Q9UHR9|Q9UNJ1	Silent	SNP	pfam_Blc2_fam,pfscan_Bcl2-like,prints_Apop_reg_Mc1,prints_Blc2_fam	p.L12	ENST00000369026.2	37	c.36	CCDS957.1	1																																																																																			MCL1	-	NULL		0.667	MCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCL1	HGNC	protein_coding	OTTHUMT00000084402.1	G	NM_021960		150551971	-1	no_errors	ENST00000369026	ensembl	human	known	70_37	silent	SNP	0.947	T
MEF2BNB	729991	genome.wustl.edu	37	19	19293455	19293455	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr19:19293455G>T	ENST00000462790.3	-	4	724	c.253C>A	c.(253-255)Cgc>Agc	p.R85S	MEF2BNB-MEF2B_ENST00000514819.3_5'UTR|MEF2BNB-MEF2B_ENST00000444486.3_5'UTR|MEF2BNB_ENST00000494489.2_5'UTR|MEF2BNB_ENST00000585679.1_5'UTR|MEF2BNB_ENST00000477565.3_Missense_Mutation_p.R85S|MEF2B_ENST00000602424.2_5'UTR|MEF2BNB-MEF2B_ENST00000602276.1_5'Flank|MEF2B_ENST00000162023.5_5'UTR	NM_001145784.1	NP_001139256.1	Q96FH0	MF2NB_HUMAN	MEF2B neighbor	85					heart development (GO:0007507)												TCCACGCTGCGGAAGTAGACG	0.647																																																	0													62.0	52.0	55.0					19																	19293455		692	1591	2283	SO:0001583	missense	4207				CCDS46025.1, CCDS54235.1	19p13.11	2011-04-19			ENSG00000254901	ENSG00000254901			37247	protein-coding gene	gene with protein product							Standard	NM_001145783		Approved		uc002nlq.3	Q96FH0	OTTHUMG00000166546	ENST00000462790.3:c.253C>A	19.37:g.19293455G>T	ENSP00000425864:p.Arg85Ser		B2RXF9|Q9BT01	Missense_Mutation	SNP	pfam_UPF0402_NEP	p.R85S	ENST00000462790.3	37	c.253	CCDS46025.1	19	.	.	.	.	.	.	.	.	.	.	G	14.32	2.500482	0.44455	.	.	ENSG00000254901	ENST00000462790;ENST00000477565	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	T	0.35158	0.0922	L	0.33485	1.01	0.30041	N	0.812593	B;B	0.29341	0.239;0.242	B;B	0.26517	0.049;0.07	T	0.22277	-1.0221	8	0.20046	T	0.44	-20.3294	11.376	0.49728	0.0:0.0:0.8191:0.1809	.	85;85	Q96FH0-2;Q96FH0	.;MF2NB_HUMAN	S	85	.	ENSP00000425864:R85S	R	-	1	0	MEF2BNB	19154455	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.297000	0.59061	2.425000	0.82216	0.650000	0.86243	CGC	MEF2BNB-MEF2B	-	pfam_UPF0402_NEP		0.647	MEF2BNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEF2BNB-MEF2B	HGNC	protein_coding	OTTHUMT00000336091.4	G			19293455	-1	no_errors	ENST00000354191	ensembl	human	known	70_37	missense	SNP	1.000	T
MGAT2	4247	genome.wustl.edu	37	14	50088484	50088484	+	Silent	SNP	G	G	T			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr14:50088484G>T	ENST00000305386.2	+	1	996	c.498G>T	c.(496-498)ggG>ggT	p.G166G	RPL36AL_ENST00000298289.6_5'Flank|RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	166					cellular protein metabolic process (GO:0044267)|oligosaccharide biosynthetic process (GO:0009312)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0008455)|carbohydrate binding (GO:0030246)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					TGATCGCCGGGGTGAATTTCT	0.507																																																	0													85.0	94.0	91.0					14																	50088484		2203	4300	6503	SO:0001819	synonymous_variant	4247			U15128	CCDS9690.1	14q21	2013-02-25			ENSG00000168282	ENSG00000168282	2.4.1.143	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7045	protein-coding gene	gene with protein product		602616				7635144	Standard	NM_002408		Approved	GNT-II	uc001wwr.3	Q10469	OTTHUMG00000140271	ENST00000305386.2:c.498G>T	14.37:g.50088484G>T			B3KPC5|B3KQM0	Silent	SNP	pfam_GlcNAc_II	p.G166	ENST00000305386.2	37	c.498	CCDS9690.1	14																																																																																			MGAT2	-	pfam_GlcNAc_II		0.507	MGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT2	HGNC	protein_coding	OTTHUMT00000276807.1	G	NM_002408		50088484	+1	no_errors	ENST00000305386	ensembl	human	known	70_37	silent	SNP	0.058	T
KMT2A	4297	genome.wustl.edu	37	11	118371806	118371806	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr11:118371806G>A	ENST00000389506.5	+	25	6254	c.6254G>A	c.(6253-6255)aGc>aAc	p.S2085N	KMT2A_ENST00000534358.1_Missense_Mutation_p.S2088N|KMT2A_ENST00000354520.4_Missense_Mutation_p.S2047N			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2085					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GATATCAACAGCACTGTTGAA	0.493																																																	0													172.0	133.0	146.0					11																	118371806		2200	4296	6496	SO:0001583	missense	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.6254G>A	11.37:g.118371806G>A	ENSP00000374157:p.Ser2085Asn		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.S2085N	ENST00000389506.5	37	c.6254	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447280	0.63178	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.81821	-1.54;-1.54;-1.53	5.28	5.28	0.74379	.	0.218048	0.56097	D	0.000033	T	0.71508	0.3348	N	0.25647	0.755	0.50632	D	0.999881	B;B	0.18013	0.025;0.012	B;B	0.18263	0.021;0.009	T	0.65582	-0.6133	10	0.17832	T	0.49	.	18.9199	0.92520	0.0:0.0:1.0:0.0	.	2088;2085	E9PQG7;Q03164	.;MLL1_HUMAN	N	2088;2085;2047;995	ENSP00000436786:S2088N;ENSP00000374157:S2085N;ENSP00000346516:S2047N	ENSP00000346516:S2047N	S	+	2	0	MLL	117877016	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.562000	0.53777	2.465000	0.83290	0.491000	0.48974	AGC	MLL	-	pirsf_MeTrfase_trithorax		0.493	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	HGNC	protein_coding	OTTHUMT00000399085.2	G	NM_005933		118371806	+1	no_errors	ENST00000389506	ensembl	human	known	70_37	missense	SNP	1.000	A
MTUS2	23281	genome.wustl.edu	37	13	29599910	29599910	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr13:29599910G>T	ENST00000431530.3	+	1	1163	c.1105G>T	c.(1105-1107)Gca>Tca	p.A369S		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	359						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGCCACCGATGCACTTGGCCA	0.577																																																	0													50.0	53.0	52.0					13																	29599910		2063	4212	6275	SO:0001583	missense	23281			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1105G>T	13.37:g.29599910G>T	ENSP00000392057:p.Ala369Ser		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	NULL	p.A369S	ENST00000431530.3	37	c.1105	CCDS45022.1	13	.	.	.	.	.	.	.	.	.	.	g	1.831	-0.469843	0.04445	.	.	ENSG00000132938	ENST00000431530	T	0.12147	2.71	4.36	2.31	0.28768	.	1.830390	0.02701	N	0.111792	T	0.06872	0.0175	N	0.08118	0	0.09310	N	1	B	0.20671	0.047	B	0.18561	0.022	T	0.31971	-0.9924	9	.	.	.	.	0.7998	0.01073	0.2505:0.1739:0.3973:0.1782	.	359	Q5JR59	MTUS2_HUMAN	S	369	ENSP00000392057:A369S	.	A	+	1	0	MTUS2	28497910	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.202000	0.09451	0.304000	0.22809	-0.218000	0.12543	GCA	MTUS2	-	NULL		0.577	MTUS2-002	KNOWN	basic|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044336.3	G	XM_166270		29599910	+1	no_errors	ENST00000431530	ensembl	human	known	70_37	missense	SNP	0.000	T
MUC16	94025	genome.wustl.edu	37	19	9090887	9090888	+	Frame_Shift_Ins	INS	-	-	A			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr19:9090887_9090888insA	ENST00000397910.4	-	1	1130_1131	c.927_928insT	c.(925-930)cctctgfs	p.L310fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	310	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGGAGACAGAGGGGAGGTGA	0.5																																																	0																																										SO:0001589	frameshift_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.928dupT	19.37:g.9090888_9090888dupA	ENSP00000381008:p.Leu310fs		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	pfam_SEA,smart_SEA,pfscan_SEA	p.L309fs	ENST00000397910.4	37	c.928_927	CCDS54212.1	19																																																																																			MUC16	-	NULL		0.500	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	NM_024690		9090888	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.001	A
MYO15A	51168	genome.wustl.edu	37	17	18067105	18067105	+	Missense_Mutation	SNP	G	G	T	rs200694470		TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr17:18067105G>T	ENST00000205890.5	+	60	10078	c.9740G>T	c.(9739-9741)cGc>cTc	p.R3247L	MYO15A_ENST00000451725.2_Missense_Mutation_p.R139L|MYO15A_ENST00000418233.3_Missense_Mutation_p.R511L	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3247	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCTCTGACACGCCCTGAGGCC	0.587																																																	0													98.0	98.0	98.0					17																	18067105		2039	4192	6231	SO:0001583	missense	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.9740G>T	17.37:g.18067105G>T	ENSP00000205890:p.Arg3247Leu		B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.R3247L	ENST00000205890.5	37	c.9740	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	G	9.912	1.209919	0.22289	.	.	ENSG00000091536	ENST00000205890;ENST00000418233;ENST00000451725	D;D	0.97430	-2.34;-4.38	4.94	2.97	0.34412	Band 4.1 domain (1);FERM domain (1);	.	.	.	.	D	0.95271	0.8466	M	0.62723	1.935	0.09310	N	1	P;P;B;P;P;P	0.51449	0.68;0.666;0.338;0.561;0.945;0.933	B;B;B;B;B;B	0.43575	0.185;0.198;0.116;0.103;0.312;0.424	D	0.89118	0.3501	9	0.48119	T	0.1	.	8.3801	0.32466	0.3097:0.0:0.6903:0.0	.	139;236;511;3247;169;254	B4DQJ3;B4DLV9;B4DFC7;Q9UKN7;Q7Z382;Q8TCK0	.;.;.;MYO15_HUMAN;.;.	L	3247;236;139	ENSP00000205890:R3247L;ENSP00000409098:R139L	ENSP00000205890:R3247L	R	+	2	0	MYO15A	18007830	0.018000	0.18449	0.010000	0.14722	0.324000	0.28378	1.453000	0.35167	0.688000	0.31529	-0.258000	0.10820	CGC	MYO15A	-	smart_Band_41_domain,pfscan_FERM_domain		0.587	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	G	NM_016239		18067105	+1	no_errors	ENST00000205890	ensembl	human	known	70_37	missense	SNP	0.002	T
NR2C2	7182	genome.wustl.edu	37	3	15064801	15064801	+	Silent	SNP	G	G	T			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr3:15064801G>T	ENST00000425241.1	+	6	1013	c.651G>T	c.(649-651)ctG>ctT	p.L217L	NR2C2_ENST00000323373.6_Silent_p.L236L|NR2C2_ENST00000393102.3_Silent_p.L217L|NR2C2_ENST00000406272.2_Silent_p.L217L			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	217					cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGAAAGACCTGAGAAGTCCCC	0.493																																																	0													130.0	125.0	127.0					3																	15064801		2203	4300	6503	SO:0001819	synonymous_variant	7182			L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"""Nuclear hormone receptors"""	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.651G>T	3.37:g.15064801G>T			A8K3H5|B6ZGT8|P55092	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.L236	ENST00000425241.1	37	c.708		3																																																																																			NR2C2	-	superfamily_Nucl_hormone_rcpt_ligand-bd		0.493	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	NR2C2	HGNC	protein_coding	OTTHUMT00000340729.1	G	NM_003298		15064801	+1	no_errors	ENST00000323373	ensembl	human	known	70_37	silent	SNP	0.996	T
LZTS2	84445	genome.wustl.edu	37	10	102770315	102770315	+	IGR	SNP	A	A	G	rs397516634|rs564150396		TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr10:102770315A>G	ENST00000370220.1	+	0	5741									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)		ggctgcggctacggctgcggc	0.706																																					Esophageal Squamous(8;38 437 13604 19902 37640)												0																																										SO:0001628	intergenic_variant	79955			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		10.37:g.102770315A>G				RNA	SNP	-	NULL	ENST00000370220.1	37	NULL	CCDS7507.1	10																																																																																			PDZD7	-	-		0.706	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PDZD7	HGNC	protein_coding	OTTHUMT00000049872.1	A	XM_046743		102770315	-1	no_errors	ENST00000474125	ensembl	human	known	70_37	rna	SNP	0.024	G
PKN2	5586	genome.wustl.edu	37	1	89271180	89271180	+	Splice_Site	SNP	G	G	T			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr1:89271180G>T	ENST00000370521.3	+	11	1861	c.1502G>T	c.(1501-1503)gGc>gTc	p.G501V	PKN2_ENST00000544045.1_Splice_Site_p.G175V|PKN2_ENST00000370513.5_Splice_Site_p.G453V|PKN2_ENST00000316005.7_Splice_Site_p.G501V|PKN2_ENST00000370505.3_Splice_Site_p.G344V	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	501					apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		ACATCTACAGGCAAAACATTT	0.313																																																	0													52.0	48.0	49.0					1																	89271180		1822	4074	5896	SO:0001630	splice_region_variant	5586			U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.1502-1G>T	1.37:g.89271180G>T			B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.G501V	ENST00000370521.3	37	c.1502	CCDS714.1	1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016737	0.75161	.	.	ENSG00000065243	ENST00000370521;ENST00000316005;ENST00000370505;ENST00000370513;ENST00000544045	T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31	5.81	5.81	0.92471	.	0.000000	0.45867	U	0.000325	T	0.68329	0.2989	L	0.55990	1.75	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.999	T	0.63651	-0.6589	9	.	.	.	.	20.0695	0.97716	0.0:0.0:1.0:0.0	.	485;453;501;501	B4DTP5;E7ESL7;Q16513;B1AL79	.;.;PKN2_HUMAN;.	V	501;501;344;453;175	ENSP00000359552:G501V;ENSP00000317851:G501V;ENSP00000359536:G344V;ENSP00000359544:G453V;ENSP00000439643:G175V	.	G	+	2	0	PKN2	89043768	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.230000	0.95299	2.750000	0.94351	0.591000	0.81541	GGC	PKN2	-	NULL		0.313	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKN2	HGNC	protein_coding	OTTHUMT00000027828.3	G	NM_006256	Missense_Mutation	89271180	+1	no_errors	ENST00000370521	ensembl	human	known	70_37	missense	SNP	1.000	T
S1PR3	1903	genome.wustl.edu	37	9	91616292	91616292	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr9:91616292G>T	ENST00000375846.3	+	1	4872	c.177G>T	c.(175-177)atG>atT	p.M59I	S1PR3_ENST00000358157.2_Missense_Mutation_p.M59I			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	59					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|anatomical structure morphogenesis (GO:0009653)|cytokine production (GO:0001816)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of establishment of endothelial barrier (GO:1903141)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of interleukin-1 beta production (GO:0032651)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						AGAACCTGATGGTTTTGATTG	0.532											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													105.0	104.0	104.0					9																	91616292		2203	4300	6503	SO:0001583	missense	1903			AF022139	CCDS6680.1	9q22.1-q22.2	2012-08-08	2008-04-30	2008-04-30	ENSG00000213694	ENSG00000213694		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3167	protein-coding gene	gene with protein product	"""sphingosine-1-phosphate receptor 3"""	601965	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 3"""	EDG3		8878560, 9409733	Standard	NM_005226		Approved	EDG-3	uc004aqe.4	Q99500	OTTHUMG00000020173	ENST00000375846.3:c.177G>T	9.37:g.91616292G>T	ENSP00000365006:p.Met59Ile	1283	Q5SQD8|Q7Z5I2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG3_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn,prints_EDG1_rcpt,prints_Cnbnoid_rcpt	p.M59I	ENST00000375846.3	37	c.177	CCDS6680.1	9	.	.	.	.	.	.	.	.	.	.	G	10.56	1.384274	0.25031	.	.	ENSG00000213694	ENST00000358157;ENST00000375846	T;T	0.70986	-0.53;-0.53	5.14	4.25	0.50352	GPCR, rhodopsin-like superfamily (1);	0.266072	0.42682	N	0.000661	T	0.51346	0.1669	N	0.08118	0	0.46609	D	0.999125	B	0.22080	0.064	B	0.20767	0.031	T	0.50524	-0.8818	10	0.48119	T	0.1	.	13.4953	0.61421	0.0745:0.0:0.9255:0.0	.	59	Q99500	S1PR3_HUMAN	I	59	ENSP00000350878:M59I;ENSP00000365006:M59I	ENSP00000350878:M59I	M	+	3	0	S1PR3	90806112	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.244000	0.43124	1.396000	0.46663	0.561000	0.74099	ATG	S1PR3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Cnbnoid_rcpt		0.532	S1PR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S1PR3	HGNC	protein_coding	OTTHUMT00000052979.2	G	NM_005226		91616292	+1	no_errors	ENST00000358157	ensembl	human	known	70_37	missense	SNP	1.000	T
SETMAR	6419	genome.wustl.edu	37	3	4358097	4358097	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr3:4358097C>T	ENST00000358065.4	+	3	1289	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W	SETMAR_ENST00000425863.1_Missense_Mutation_p.R269W|SUMF1_ENST00000534863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	408	Mariner transposase Hsmar1.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		gcgtagtggccggccatcaga	0.483								Chromatin Structure																																									0													11.0	11.0	11.0					3																	4358097		2195	4287	6482	SO:0001583	missense	6419			U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.1222C>T	3.37:g.4358097C>T	ENSP00000373354:p.Arg408Trp		B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Missense_Mutation	SNP	pfam_Transposase_1,pfam_SET_dom,pfam_Pre-SET_dom,pfam_Transposase_Tc1-like,pfam_Transposase_14,superfamily_Homeodomain-like,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.R408W	ENST00000358065.4	37	c.1222	CCDS2563.2	3	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018712	0.35606	.	.	ENSG00000170364	ENST00000358065;ENST00000425863;ENST00000358950	T;T;T	0.30714	1.52;1.52;1.52	0.235	0.235	0.15431	.	2.115320	0.03417	N	0.205753	T	0.36276	0.0961	L	0.40543	1.245	0.22479	N	0.999068	B;B;D;B	0.64830	0.031;0.006;0.994;0.011	B;B;P;B	0.52066	0.016;0.005;0.689;0.008	T	0.29579	-1.0007	9	0.87932	D	0	.	.	.	.	.	152;269;395;153	B4DND2;E7EN68;Q53H47;Q96H41	.;.;SETMR_HUMAN;.	W	408;269;172	ENSP00000373354:R408W;ENSP00000403145:R269W;ENSP00000369673:R172W	ENSP00000373354:R408W	R	+	1	2	SETMAR	4333097	0.917000	0.31117	0.839000	0.33178	0.845000	0.48019	0.305000	0.19254	0.308000	0.22923	0.313000	0.20887	CGG	SETMAR	-	pfam_Transposase_14,superfamily_Homeodomain-like		0.483	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETMAR	HGNC	protein_coding	OTTHUMT00000206587.4	C	NM_006515		4358097	+1	no_errors	ENST00000358065	ensembl	human	known	70_37	missense	SNP	0.867	T
SGTA	6449	genome.wustl.edu	37	19	2762565	2762565	+	Missense_Mutation	SNP	T	T	C			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr19:2762565T>C	ENST00000221566.2	-	7	736	c.575A>G	c.(574-576)aAc>aGc	p.N192S		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	192					viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTATGTCTCGTTGTCGGGGTC	0.647																																																	0													136.0	127.0	130.0					19																	2762565		2203	4300	6503	SO:0001583	missense	6449			AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"""Tetratricopeptide (TTC) repeat domain containing"""	10819	protein-coding gene	gene with protein product		603419	"""small glutamine-rich tetratricopeptide repeat (TPR)-containing"""	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.575A>G	19.37:g.2762565T>C	ENSP00000221566:p.Asn192Ser		D6W610|Q6FIA9|Q9BTZ9	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.N192S	ENST00000221566.2	37	c.575	CCDS12094.1	19	.	.	.	.	.	.	.	.	.	.	T	14.82	2.648920	0.47362	.	.	ENSG00000104969	ENST00000221566	T	0.67345	-0.26	4.25	4.25	0.50352	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.659654	0.16207	N	0.224670	T	0.81009	0.4734	M	0.83384	2.64	0.54753	D	0.99998	D	0.89917	1.0	D	0.72982	0.979	T	0.79396	-0.1821	10	0.32370	T	0.25	-22.8715	12.2267	0.54463	0.0:0.0:0.0:1.0	.	192	O43765	SGTA_HUMAN	S	192	ENSP00000221566:N192S	ENSP00000221566:N192S	N	-	2	0	SGTA	2713565	1.000000	0.71417	0.027000	0.17364	0.022000	0.10575	7.569000	0.82380	1.563000	0.49615	0.533000	0.62120	AAC	SGTA	-	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.647	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGTA	HGNC	protein_coding	OTTHUMT00000451448.2	T	NM_003021		2762565	-1	no_errors	ENST00000221566	ensembl	human	known	70_37	missense	SNP	1.000	C
SLC12A5	57468	genome.wustl.edu	37	20	44669971	44669971	+	Silent	SNP	C	C	A			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr20:44669971C>A	ENST00000454036.2	+	8	976	c.927C>A	c.(925-927)atC>atA	p.I309I	SLC12A5_ENST00000243964.3_Silent_p.I286I	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	309					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCCCTAGGATCTGCCTCCTGG	0.582																																																	0													79.0	74.0	76.0					20																	44669971		2203	4300	6503	SO:0001819	synonymous_variant	57468			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.927C>A	20.37:g.44669971C>A			A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.I309	ENST00000454036.2	37	c.927	CCDS46610.1	20																																																																																			SLC12A5	-	prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS		0.582	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	HGNC	protein_coding	OTTHUMT00000471538.1	C			44669971	+1	no_errors	ENST00000454036	ensembl	human	known	70_37	silent	SNP	1.000	A
SLC6A11	6538	genome.wustl.edu	37	3	10976837	10976837	+	Silent	SNP	G	G	A	rs138273152		TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr3:10976837G>A	ENST00000254488.2	+	13	1764	c.1698G>A	c.(1696-1698)ccG>ccA	p.P566P		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	566					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	TCTGCATCCCGCTCTGGATCT	0.607																																																	0								G		4,4402	8.1+/-20.4	0,4,2199	162.0	145.0	150.0		1698	-8.4	0.4	3	dbSNP_134	150	0,8600		0,0,4300	no	coding-synonymous	SLC6A11	NM_014229.1		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		566/633	10976837	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	6538			S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1698G>A	3.37:g.10976837G>A			B2R6U6|Q8IYC9	Silent	SNP	pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT3	p.P566	ENST00000254488.2	37	c.1698	CCDS2602.1	3																																																																																			SLC6A11	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.607	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A11	HGNC	protein_coding	OTTHUMT00000251927.1	G	NM_014229		10976837	+1	no_errors	ENST00000254488	ensembl	human	known	70_37	silent	SNP	0.001	A
SLITRK4	139065	genome.wustl.edu	37	X	142718808	142718808	+	Silent	SNP	G	G	T			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chrX:142718808G>T	ENST00000381779.4	-	2	342	c.117C>A	c.(115-117)ctC>ctA	p.L39L	SLITRK4_ENST00000356928.1_Silent_p.L39L|SLITRK4_ENST00000338017.4_Silent_p.L39L	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	39						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AGTTGACATAGAGCACATTCT	0.373																																																	0													72.0	66.0	68.0					X																	142718808		2203	4300	6503	SO:0001819	synonymous_variant	139065			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.117C>A	X.37:g.142718808G>T			Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L39	ENST00000381779.4	37	c.117	CCDS14679.1	X																																																																																			SLITRK4	-	NULL		0.373	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK4	HGNC	protein_coding	OTTHUMT00000058617.1	G	NM_173078		142718808	-1	no_errors	ENST00000338017	ensembl	human	known	70_37	silent	SNP	0.999	T
SMARCA4	6597	genome.wustl.edu	37	19	11129654	11129654	+	Nonsense_Mutation	SNP	C	C	A	rs372410282		TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr19:11129654C>A	ENST00000429416.3	+	18	2741	c.2460C>A	c.(2458-2460)taC>taA	p.Y820*	SMARCA4_ENST00000541122.2_Nonsense_Mutation_p.Y820*|SMARCA4_ENST00000413806.3_Nonsense_Mutation_p.Y820*|SMARCA4_ENST00000590574.1_Nonsense_Mutation_p.Y820*|SMARCA4_ENST00000444061.3_Nonsense_Mutation_p.Y820*|SMARCA4_ENST00000358026.2_Nonsense_Mutation_p.Y820*|SMARCA4_ENST00000344626.4_Nonsense_Mutation_p.Y820*|SMARCA4_ENST00000450717.3_Nonsense_Mutation_p.Y820*|SMARCA4_ENST00000589677.1_Nonsense_Mutation_p.Y820*|CTC-215O4.4_ENST00000587831.1_RNA	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	820	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ACTGGGCGTACGAGTTTGACA	0.552			"""F, N, Mis"""		NSCLC																																			Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	1	Unknown(1)	lung(1)											177.0	151.0	160.0					19																	11129654		2203	4300	6503	SO:0001587	stop_gained	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2460C>A	19.37:g.11129654C>A	ENSP00000395654:p.Tyr820*		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.Y820*	ENST00000429416.3	37	c.2460	CCDS12253.1	19	.	.	.	.	.	.	.	.	.	.	c	20.3	3.975246	0.74360	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	.	.	.	4.95	-8.04	0.01110	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-22.4353	18.4672	0.90760	0.0:0.1251:0.0:0.8749	.	.	.	.	X	820;820;884;820;820;820;820;820	.	ENSP00000343896:Y820X	Y	+	3	2	SMARCA4	10990654	0.000000	0.05858	0.173000	0.22940	0.145000	0.21501	-2.945000	0.00681	-1.459000	0.01914	-1.290000	0.01357	TAC	SMARCA4	-	pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.552	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	C	NM_003072		11129654	+1	no_errors	ENST00000358026	ensembl	human	known	70_37	nonsense	SNP	0.561	A
SNHG14	104472715	genome.wustl.edu	37	15	25430615	25430615	+	RNA	SNP	G	G	A			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr15:25430615G>A	ENST00000424208.1	+	0	476				SNORD115-9_ENST00000362912.1_RNA|SNORD115-8_ENST00000363856.1_RNA|SNORD115-10_ENST00000365073.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		GAAGAATTGCGTTAGGCCCTT	0.587																																																	0																																												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.25430615G>A				RNA	SNP	-	NULL	ENST00000424208.1	37	NULL		15																																																																																			SNHG14	-	-		0.587	SNHG14-002	KNOWN	basic	antisense	SNHG14	HGNC	processed_transcript	OTTHUMT00000126729.2	G			25430615	+1	no_errors	ENST00000424208	ensembl	human	known	70_37	rna	SNP	0.000	A
SPTBN5	51332	genome.wustl.edu	37	15	42147040	42147040	+	Silent	SNP	C	C	T			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr15:42147040C>T	ENST00000320955.6	-	56	9785	c.9558G>A	c.(9556-9558)caG>caA	p.Q3186Q	RNA5SP393_ENST00000363423.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3186					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGCGGCTCCTCTGGGCTTGGA	0.617																																																	0													61.0	63.0	62.0					15																	42147040		1931	4137	6068	SO:0001819	synonymous_variant	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.9558G>A	15.37:g.42147040C>T				Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.Q3186	ENST00000320955.6	37	c.9558		15																																																																																			SPTBN5	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.617	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	C	NM_016642		42147040	-1	no_errors	ENST00000320955	ensembl	human	known	70_37	silent	SNP	0.698	T
TMEM63A	9725	genome.wustl.edu	37	1	226065245	226065245	+	Silent	SNP	G	G	T			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr1:226065245G>T	ENST00000366835.3	-	3	306	c.36C>A	c.(34-36)tcC>tcA	p.S12S		NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	12					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					ACACTGCCTTGGACTGCCACA	0.592											OREG0014291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													63.0	54.0	57.0					1																	226065245		2203	4300	6503	SO:0001819	synonymous_variant	9725				CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.36C>A	1.37:g.226065245G>T		2309	Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	pfam_DUF221	p.S12	ENST00000366835.3	37	c.36	CCDS31042.1	1																																																																																			TMEM63A	-	NULL		0.592	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63A	HGNC	protein_coding	OTTHUMT00000091154.2	G	NM_014698		226065245	-1	no_errors	ENST00000366835	ensembl	human	known	70_37	silent	SNP	0.004	T
TNS3	64759	genome.wustl.edu	37	7	47408811	47408811	+	Silent	SNP	G	G	A			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr7:47408811G>A	ENST00000398879.1	-	17	1798	c.1432C>T	c.(1432-1434)Ctg>Ttg	p.L478L	TNS3_ENST00000311160.9_Silent_p.L478L|TNS3_ENST00000355730.3_Intron			Q68CZ2	TENS3_HUMAN	tensin 3	478					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TCGTCATCCAGAATGTCTGTC	0.617																																																	0													58.0	64.0	62.0					7																	47408811		2159	4246	6405	SO:0001819	synonymous_variant	64759			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.1432C>T	7.37:g.47408811G>A			B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.L478	ENST00000398879.1	37	c.1432	CCDS5506.2	7																																																																																			TNS3	-	NULL		0.617	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS3	HGNC	protein_coding	OTTHUMT00000157253.1	G	NM_022748		47408811	-1	no_errors	ENST00000311160	ensembl	human	known	70_37	silent	SNP	1.000	A
TPSAB1	7177	genome.wustl.edu	37	16	1291639	1291639	+	Silent	SNP	A	A	G	rs1064783		TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr16:1291639A>G	ENST00000338844.3	+	4	471	c.438A>G	c.(436-438)tcA>tcG	p.S146S	TPSAB1_ENST00000461509.2_Silent_p.S153S	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	146	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				CCCCTGCCTCAGAGACCTTCC	0.667																																																	0													41.0	34.0	36.0					16																	1291639		2199	4298	6497	SO:0001819	synonymous_variant	7177			M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"""tryptase alpha II"", ""tryptase beta I"", ""tryptase-I"", ""tryptase-II"", ""tryptase-III"""	191080	"""tryptase beta 1"""	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.438A>G	16.37:g.1291639A>G			D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Silent	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.S146	ENST00000338844.3	37	c.438	CCDS10431.1	16																																																																																			TPSAB1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.667	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TPSAB1	HGNC	protein_coding	OTTHUMT00000206914.1	A	NM_003294		1291639	+1	no_errors	ENST00000562675	ensembl	human	known	70_37	silent	SNP	0.005	G
TRPM6	140803	genome.wustl.edu	37	9	77377512	77377512	+	Nonsense_Mutation	SNP	C	C	A			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr9:77377512C>A	ENST00000360774.1	-	26	4312	c.4075G>T	c.(4075-4077)Gaa>Taa	p.E1359*	TRPM6_ENST00000361255.3_Nonsense_Mutation_p.E1354*|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.E1354*|TRPM6_ENST00000451710.3_Nonsense_Mutation_p.E1359*|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.E1359*|TRPM6_ENST00000376872.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1359					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AAGACAGTTTCTGCTGAAAAA	0.502																																																	0													143.0	147.0	146.0					9																	77377512		2203	4300	6503	SO:0001587	stop_gained	140803			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.4075G>T	9.37:g.77377512C>A	ENSP00000354006:p.Glu1359*		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Nonsense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.E1359*	ENST00000360774.1	37	c.4075	CCDS6647.1	9	.	.	.	.	.	.	.	.	.	.	C	43	9.906869	0.99293	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	.	.	.	6.02	3.19	0.36642	.	0.810483	0.11683	N	0.539610	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	7.0282	0.24952	0.0:0.6314:0.1134:0.2551	.	.	.	.	X	1359;1359;1354;1354;1359;1022;1022	.	ENSP00000309693:E1022X	E	-	1	0	TRPM6	76567332	0.001000	0.12720	0.004000	0.12327	0.834000	0.47266	0.644000	0.24766	0.890000	0.36211	0.655000	0.94253	GAA	TRPM6	-	NULL		0.502	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	HGNC	protein_coding	OTTHUMT00000052693.1	C	NM_017662		77377512	-1	no_errors	ENST00000451710	ensembl	human	known	70_37	nonsense	SNP	0.000	A
TSEN54	283989	genome.wustl.edu	37	17	73518281	73518281	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr17:73518281G>T	ENST00000333213.6	+	8	1155	c.1119G>T	c.(1117-1119)caG>caT	p.Q373H		NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	373					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCGAGGTGCAGCGGTGCTCCA	0.697																																																	0													12.0	11.0	11.0					17																	73518281		2143	4184	6327	SO:0001583	missense	283989			AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173		"""tRNA splicing endonuclease subunits"""	27561	protein-coding gene	gene with protein product		608755	"""tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)"", ""tRNA splicing endonuclease 54 homolog (S. cerevisiae)"""			15109492	Standard	NM_207346		Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.1119G>T	17.37:g.73518281G>T	ENSP00000327487:p.Gln373His		Q86WV3|Q86XE4|Q8N9H2	Missense_Mutation	SNP	NULL	p.Q373H	ENST00000333213.6	37	c.1119	CCDS11724.1	17	.	.	.	.	.	.	.	.	.	.	G	10.99	1.508536	0.27036	.	.	ENSG00000182173	ENST00000333213	T	0.59083	0.29	5.35	5.35	0.76521	.	0.509560	0.23310	N	0.049573	T	0.59985	0.2234	M	0.64997	1.995	0.35108	D	0.765868	P	0.47841	0.901	P	0.48270	0.572	T	0.71262	-0.4645	10	0.49607	T	0.09	-5.2377	9.729	0.40350	0.1538:0.0:0.8462:0.0	.	373	Q7Z6J9	SEN54_HUMAN	H	373	ENSP00000327487:Q373H	ENSP00000327487:Q373H	Q	+	3	2	TSEN54	71029876	0.610000	0.26983	0.979000	0.43373	0.406000	0.30931	3.146000	0.50631	2.487000	0.83934	0.655000	0.94253	CAG	TSEN54	-	NULL		0.697	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSEN54	HGNC	protein_coding	OTTHUMT00000447618.1	G	NM_207346		73518281	+1	no_errors	ENST00000333213	ensembl	human	known	70_37	missense	SNP	0.996	T
TYRO3	7301	genome.wustl.edu	37	15	41861203	41861203	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr15:41861203C>A	ENST00000263798.3	+	9	1459	c.1235C>A	c.(1234-1236)tCt>tAt	p.S412Y	TYRO3_ENST00000559066.1_Missense_Mutation_p.S367Y	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	412	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CTGGTGGTCTCTTCTCATGAC	0.567																																																	0													102.0	89.0	93.0					15																	41861203		2203	4300	6503	SO:0001583	missense	7301			D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.1235C>A	15.37:g.41861203C>A	ENSP00000263798:p.Ser412Tyr		O14953|Q86VR3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S412Y	ENST00000263798.3	37	c.1235	CCDS10080.1	15	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615812	0.66672	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	T	0.53423	0.62	5.06	5.06	0.68205	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.42053	D	0.000773	T	0.45074	0.1324	L	0.43152	1.355	0.33605	D	0.602889	D	0.59357	0.985	P	0.52066	0.689	T	0.44817	-0.9303	10	0.02654	T	1	-7.8423	13.1193	0.59316	0.0:0.8387:0.1613:0.0	.	412	Q06418	TYRO3_HUMAN	Y	344;412	ENSP00000263798:S412Y	ENSP00000263798:S412Y	S	+	2	0	TYRO3	39648495	0.933000	0.31639	1.000000	0.80357	0.996000	0.88848	1.234000	0.32660	2.638000	0.89438	0.655000	0.94253	TCT	TYRO3	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.567	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYRO3	HGNC	protein_coding	OTTHUMT00000252693.2	C			41861203	+1	no_errors	ENST00000263798	ensembl	human	known	70_37	missense	SNP	0.992	A
UNC45A	55898	genome.wustl.edu	37	15	91488276	91488276	+	Silent	SNP	T	T	C			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr15:91488276T>C	ENST00000418476.2	+	9	1222	c.1182T>C	c.(1180-1182)ctT>ctC	p.L394L	UNC45A_ENST00000394275.2_Silent_p.L379L	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	394					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			TCCACAGACTTTGTGAAAACT	0.493																																																	0													74.0	72.0	73.0					15																	91488276		2198	4298	6496	SO:0001819	synonymous_variant	55898				CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"""smooth muscle cell associated protein-1"""	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.1182T>C	15.37:g.91488276T>C			A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Silent	SNP	pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L394	ENST00000418476.2	37	c.1182	CCDS10367.1	15																																																																																			UNC45A	-	pfam_UNC-45/Ring3		0.493	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNC45A	HGNC	protein_coding	OTTHUMT00000280406.2	T	NM_018671		91488276	+1	no_errors	ENST00000418476	ensembl	human	known	70_37	silent	SNP	0.994	C
UROC1	131669	genome.wustl.edu	37	3	126201258	126201258	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr3:126201258C>T	ENST00000290868.2	-	20	2014	c.1961G>A	c.(1960-1962)aGc>aAc	p.S654N	UROC1_ENST00000383579.3_Missense_Mutation_p.S714N	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	654					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CACCAAGGTGCTGTTCTCCTG	0.647																																																	0													81.0	61.0	68.0					3																	126201258		2203	4300	6503	SO:0001583	missense	131669			AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1961G>A	3.37:g.126201258C>T	ENSP00000290868:p.Ser654Asn		E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase	p.S654N	ENST00000290868.2	37	c.1961	CCDS3038.1	3	.	.	.	.	.	.	.	.	.	.	C	1.419	-0.573270	0.03882	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.57907	0.37;0.37	4.56	-0.723	0.11181	Urocanase domain (1);	1.865810	0.02603	N	0.101216	T	0.39517	0.1081	L	0.28344	0.845	0.09310	N	1	B;B	0.12013	0.005;0.0	B;B	0.17979	0.02;0.005	T	0.21999	-1.0229	10	0.38643	T	0.18	-15.1336	5.8063	0.18442	0.0:0.5063:0.1516:0.3421	.	714;654	E9PE13;Q96N76	.;HUTU_HUMAN	N	654;714	ENSP00000290868:S654N;ENSP00000373073:S714N	ENSP00000290868:S654N	S	-	2	0	UROC1	127683948	0.000000	0.05858	0.030000	0.17652	0.103000	0.19146	-0.738000	0.04871	-0.001000	0.14495	-0.339000	0.08088	AGC	UROC1	-	superfamily_Urocanase_dom,pirsf_Urocanase		0.647	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROC1	HGNC	protein_coding	OTTHUMT00000370325.2	C	NM_144639		126201258	-1	no_errors	ENST00000290868	ensembl	human	known	70_37	missense	SNP	0.001	T
UTS2	10911	genome.wustl.edu	37	1	7906777	7906777	+	IGR	SNP	G	G	T			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr1:7906777G>T	ENST00000361696.5	-	0	551				UTS2_ENST00000377516.2_Silent_p.G129G	NM_006786.3	NP_006777.1	O95399	UTS2_HUMAN	urotensin 2						muscle contraction (GO:0006936)|negative regulation of blood pressure (GO:0045776)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell differentiation (GO:0045597)|positive regulation of circadian sleep/wake cycle, REM sleep (GO:0046005)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of heart rate (GO:0010460)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to testosterone (GO:0033574)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			kidney(1)|lung(4)|urinary_tract(1)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)		AAATTCGTAAGCCAGGCTCTT	0.363																																																	0																																										SO:0001628	intergenic_variant	10911			AF104118	CCDS90.1, CCDS91.1	1p36	2013-02-28			ENSG00000049247	ENSG00000049247		"""Endogenous ligands"""	12636	protein-coding gene	gene with protein product	"""prepro U-II"""	604097				9861051, 10499587	Standard	NM_021995		Approved	UII, U-II, UCN2, PRO1068	uc001aos.3	O95399	OTTHUMG00000001218		1.37:g.7906777G>T			Q5H8X7|Q6UXF6|Q9UKP7	Silent	SNP	NULL	p.G129	ENST00000361696.5	37	c.387	CCDS91.1	1																																																																																			UTS2	-	NULL		0.363	UTS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UTS2	HGNC	protein_coding	OTTHUMT00000003612.1	G	NM_006786		7906777	-1	no_errors	ENST00000377516	ensembl	human	putative	70_37	silent	SNP	0.001	T
VPS11	55823	genome.wustl.edu	37	11	118944082	118944082	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr11:118944082G>T	ENST00000300793.6	+	7	1098	c.1056G>T	c.(1054-1056)caG>caT	p.Q352H	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	353					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		ACGCACTGCAGGAGAAGGACA	0.597																																																	0													60.0	61.0	60.0					11																	118944082		2129	4238	6367	SO:0001583	missense	55823			AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.1056G>T	11.37:g.118944082G>T	ENSP00000475301:p.Gln352His		Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	RNA	SNP	-	NULL	ENST00000300793.6	37	NULL		11																																																																																			VPS11	-	-		0.597	VPS11-201	KNOWN	basic|appris_principal	protein_coding	VPS11	HGNC	protein_coding		G	NM_021729		118944082	+1	no_errors	ENST00000300793	ensembl	human	known	70_37	rna	SNP	1.000	T
XIRP1	165904	genome.wustl.edu	37	3	39230622	39230622	+	Silent	SNP	G	G	T			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr3:39230622G>T	ENST00000340369.3	-	2	543	c.315C>A	c.(313-315)gcC>gcA	p.A105A	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.A105A	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	105					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GTTCTCCAATGGCATCCAGTC	0.602																																																	0													72.0	72.0	72.0					3																	39230622		2203	4300	6503	SO:0001819	synonymous_variant	165904			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.315C>A	3.37:g.39230622G>T			A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	pfam_Actin-binding_Xin_repeat	p.A105	ENST00000340369.3	37	c.315	CCDS2683.1	3																																																																																			XIRP1	-	NULL		0.602	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XIRP1	HGNC	protein_coding	OTTHUMT00000254065.1	G	XM_093522		39230622	-1	no_errors	ENST00000340369	ensembl	human	known	70_37	silent	SNP	1.000	T
NDUFA13	51079	genome.wustl.edu	37	19	19638112	19638112	+	Nonsense_Mutation	SNP	G	G	T	rs202132650		TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr19:19638112G>T	ENST00000507754.4	+	3	680	c.196G>T	c.(196-198)Gag>Tag	p.E66*	CTC-260F20.3_ENST00000555938.1_Nonsense_Mutation_p.E66*|NDUFA13_ENST00000512771.3_Nonsense_Mutation_p.E66*|YJEFN3_ENST00000608404.1_Nonsense_Mutation_p.E66*|NDUFA13_ENST00000252576.5_Nonsense_Mutation_p.E149*|NDUFA13_ENST00000428459.2_Nonsense_Mutation_p.E66*|YJEFN3_ENST00000436027.5_5'Flank|NDUFA13_ENST00000503283.1_Nonsense_Mutation_p.E66*|CTC-260F20.3_ENST00000586674.1_3'UTR|YJEFN3_ENST00000514277.4_5'Flank			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13	66					apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						CGAGGACTTCGAGGCTCGCAT	0.642																																																	0													68.0	61.0	64.0					19																	19638112		2203	4300	6503	SO:0001587	stop_gained	374887			AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"""Mitochondrial respiratory chain complex / Complex I"""	17194	protein-coding gene	gene with protein product	"""complex I B16.6 subunit"""	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211	ENST00000507754.4:c.196G>T	19.37:g.19638112G>T	ENSP00000423673:p.Glu66*		B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Nonsense_Mutation	SNP	pfam_GRIM-19,pfam_YjeF_N_dom,superfamily_YjeF_N_dom	p.E66*	ENST00000507754.4	37	c.196	CCDS12404.2	19	.	.	.	.	.	.	.	.	.	.	G	32	5.144178	0.94603	.	.	ENSG00000186010;ENSG00000186010;ENSG00000250067;ENSG00000258674	ENST00000507754;ENST00000252576;ENST00000553705;ENST00000555938	.	.	.	4.55	3.51	0.40186	.	0.137755	0.47093	D	0.000249	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	7.6054	0.28100	0.1163:0.0:0.8837:0.0	.	.	.	.	X	66;149;66;66	.	ENSP00000252576:E149X	E	+	1	0	YJEFN3;NDUFA13;CTC-260F20.3	19499112	1.000000	0.71417	0.997000	0.53966	0.272000	0.26649	6.352000	0.73027	2.110000	0.64415	0.585000	0.79938	GAG	YJEFN3	-	pfam_GRIM-19		0.642	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	YJEFN3	HGNC	protein_coding	OTTHUMT00000367916.6	G	NM_015965		19638112	+1	no_errors	ENST00000553705	ensembl	human	known	70_37	nonsense	SNP	0.997	T
ZDHHC11	79844	genome.wustl.edu	37	5	710914	710914	+	Intron	SNP	T	T	A	rs374638240		TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr5:710914T>A	ENST00000424784.2	-	14	2007				ZDHHC11B_ENST00000522356.1_5'UTR			Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			TGTGCTCCCATTTCCGAATAC	0.512																																																	0																																										SO:0001627	intron_variant	653082			AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000424784.2:c.1236+9A>T	5.37:g.710914T>A			Q6UWR9	RNA	SNP	-	NULL	ENST00000424784.2	37	NULL	CCDS3857.1	5																																																																																			ZDHHC11B	-	-		0.512	ZDHHC11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC11B	HGNC	protein_coding		T	NM_024786		710914	-1	no_errors	ENST00000522356	ensembl	human	known	70_37	rna	SNP	0.006	A
ZDHHC11	79844	genome.wustl.edu	37	5	710944	710944	+	3'UTR	SNP	A	A	G	rs375635165		TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr5:710944A>G	ENST00000424784.2	-	0	1986				ZDHHC11B_ENST00000522356.1_5'UTR			Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			ATTTCCCAGTACTGTGAGCTC	0.512																																																	0																																										SO:0001624	3_prime_UTR_variant	653082			AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000424784.2:c.*745T>C	5.37:g.710944A>G			Q6UWR9	RNA	SNP	-	NULL	ENST00000424784.2	37	NULL	CCDS3857.1	5																																																																																			ZDHHC11B	-	-		0.512	ZDHHC11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC11B	HGNC	protein_coding		A	NM_024786		710944	-1	no_errors	ENST00000522356	ensembl	human	known	70_37	rna	SNP	0.078	G
ZNF273	10793	genome.wustl.edu	37	7	64388860	64388860	+	Missense_Mutation	SNP	A	A	T			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr7:64388860A>T	ENST00000476120.1	+	4	1225	c.1154A>T	c.(1153-1155)cAg>cTg	p.Q385L	ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Missense_Mutation_p.Q320L	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	385					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(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				GCTTTTAACCAGTCCTCAACC	0.388																																					Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)												0													52.0	56.0	54.0					7																	64388860		2201	4300	6501	SO:0001583	missense	10793			X78932	CCDS5528.2	7q11.21	2013-01-08				ENSG00000198039		"""Zinc fingers, C2H2-type"", ""-"""	13067	protein-coding gene	gene with protein product		604756				7865130	Standard	NR_003099		Approved	HZF9	uc003tto.3	Q14593		ENST00000476120.1:c.1154A>T	7.37:g.64388860A>T	ENSP00000418719:p.Gln385Leu		B3KQZ5|Q6P3V4	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.Q385L	ENST00000476120.1	37	c.1154	CCDS5528.2	7	.	.	.	.	.	.	.	.	.	.	.	3.839	-0.034150	0.07543	.	.	ENSG00000198039	ENST00000476120;ENST00000319636	T;T	0.06142	3.34;3.34	1.16	-0.449	0.12226	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02533	0.0077	N	0.16567	0.415	0.09310	N	1	P	0.40250	0.709	B	0.30943	0.122	T	0.43442	-0.9391	9	0.14252	T	0.57	.	4.4046	0.11402	0.7481:0.0:0.2519:0.0	.	385	Q14593	ZN273_HUMAN	L	385;320	ENSP00000418719:Q385L;ENSP00000324518:Q320L	ENSP00000324518:Q320L	Q	+	2	0	ZNF273	64026295	0.000000	0.05858	0.473000	0.27253	0.473000	0.32948	-0.370000	0.07523	0.175000	0.19841	0.172000	0.16884	CAG	ZNF273	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF273-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF273	HGNC	protein_coding	OTTHUMT00000313502.1	A			64388860	+1	no_errors	ENST00000476120	ensembl	human	known	70_37	missense	SNP	0.002	T
ZNF57	126295	genome.wustl.edu	37	19	2917022	2917022	+	Missense_Mutation	SNP	G	G	T	rs187461635		TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr19:2917022G>T	ENST00000306908.5	+	4	551	c.403G>T	c.(403-405)Gct>Tct	p.A135S	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.A103S	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	135					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAAGTTTCTGCTGGAGAAAA	0.423																																					NSCLC(150;910 1964 4303 10464 26498)												0													109.0	90.0	97.0					19																	2917022		2203	4300	6503	SO:0001583	missense	126295			M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"""Zinc fingers, C2H2-type"", ""-"""	13125	protein-coding gene	gene with protein product			"""zinc finger protein 424"""	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.403G>T	19.37:g.2917022G>T	ENSP00000303696:p.Ala135Ser		Q8N6R9	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.A135S	ENST00000306908.5	37	c.403	CCDS12098.1	19	.	.	.	.	.	.	.	.	.	.	G	9.285	1.049221	0.19827	.	.	ENSG00000171970	ENST00000306908;ENST00000395204;ENST00000522294;ENST00000523428	T;T;T	0.27256	1.68;2.52;1.68	2.21	-4.43	0.03568	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08088	0.0202	N	0.03903	-0.33	0.09310	N	1	B	0.18968	0.032	B	0.10450	0.005	T	0.21655	-1.0239	9	0.48119	T	0.1	.	0.5421	0.00647	0.4025:0.1761:0.2487:0.1728	.	135	Q68EA5	ZNF57_HUMAN	S	135;137;103;103	ENSP00000303696:A135S;ENSP00000430905:A103S;ENSP00000430223:A103S	ENSP00000303696:A135S	A	+	1	0	ZNF57	2868022	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	0.210000	0.17455	-1.470000	0.01888	-1.368000	0.01194	GCT	ZNF57	-	NULL		0.423	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF57	HGNC	protein_coding	OTTHUMT00000378969.1	G	NM_173480		2917022	+1	no_errors	ENST00000306908	ensembl	human	known	70_37	missense	SNP	0.000	T
ZNF594	84622	genome.wustl.edu	37	17	5086053	5086053	+	Missense_Mutation	SNP	C	C	T	rs370843760		TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr17:5086053C>T	ENST00000399604.4	-	1	1639	c.1499G>A	c.(1498-1500)cGt>cAt	p.R500H	ZNF594_ENST00000575779.1_Missense_Mutation_p.R500H			Q96JF6	ZN594_HUMAN	zinc finger protein 594	500					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)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AAGGAGTGAACGCCGCCTGAA	0.463																																																	0								C	HIS/ARG	1,4361	2.1+/-5.4	0,1,2180	65.0	67.0	66.0		1499	-2.9	0.0	17		66	0,8572		0,0,4286	no	missense	ZNF594	NM_032530.1	29	0,1,6466	TT,TC,CC		0.0,0.0229,0.0077	benign	500/808	5086053	1,12933	2181	4286	6467	SO:0001583	missense	84622			AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.1499G>A	17.37:g.5086053C>T	ENSP00000382513:p.Arg500His		Q6RFS0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R500H	ENST00000399604.4	37	c.1499	CCDS42241.1	17	.	.	.	.	.	.	.	.	.	.	C	0.400	-0.918925	0.02396	2.29E-4	0.0	ENSG00000180626	ENST00000399604;ENST00000389222	T	0.15834	2.39	1.45	-2.91	0.05631	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09862	0.0242	L	0.42581	1.335	0.09310	N	1	B	0.16396	0.017	B	0.04013	0.001	T	0.38779	-0.9645	9	0.19590	T	0.45	.	0.2607	0.00218	0.2117:0.2594:0.176:0.3529	.	500	Q96JF6	ZN594_HUMAN	H	500;95	ENSP00000382513:R500H	ENSP00000373874:R95H	R	-	2	0	ZNF594	5026777	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.232000	0.02936	-2.394000	0.00583	-1.800000	0.00619	CGT	ZNF594	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.463	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF594	HGNC	protein_coding	OTTHUMT00000438996.1	C	XM_290737		5086053	-1	no_errors	ENST00000399604	ensembl	human	known	70_37	missense	SNP	0.000	T
ZNF699	374879	genome.wustl.edu	37	19	9407494	9407494	+	Nonsense_Mutation	SNP	C	C	A			TCGA-Q1-A73S-01A-11D-A33O-09	TCGA-Q1-A73S-10B-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aed21183-ab50-4241-a9e5-cf1f53b0553b	79c73ac7-f2c4-425f-b6b2-430a00a96436	g.chr19:9407494C>A	ENST00000591998.1	-	6	814	c.586G>T	c.(586-588)Gaa>Taa	p.E196*	ZNF699_ENST00000308650.3_Nonsense_Mutation_p.E196*|CTC-325H20.4_ENST00000591336.1_RNA			Q32M78	ZN699_HUMAN	zinc finger protein 699	196					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)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCATGGCATTCACAGGATTTT	0.408																																																	0													130.0	118.0	122.0					19																	9407494		1970	4173	6143	SO:0001587	stop_gained	374879			BC109268	CCDS42495.1	19p13.2	2013-01-08				ENSG00000196110		"""Zinc fingers, C2H2-type"", ""-"""	24750	protein-coding gene	gene with protein product	hangover homolog (Drosophila)	609571				16940975	Standard	NM_198535		Approved	FLJ38144, hang	uc002mlc.1	Q32M78		ENST00000591998.1:c.586G>T	19.37:g.9407494C>A	ENSP00000467723:p.Glu196*		Q8N9A1	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E196*	ENST00000591998.1	37	c.586	CCDS42495.1	19	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374064	0.42105	.	.	ENSG00000196110	ENST00000308650	.	.	.	3.41	-0.0486	0.13838	.	0.000000	0.34959	N	0.003546	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	2.7221	0.05204	0.3937:0.3724:0.0:0.2338	.	.	.	.	X	196	.	ENSP00000311596:E196X	E	-	1	0	ZNF699	9268494	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-1.197000	0.03038	0.077000	0.16863	0.555000	0.69702	GAA	ZNF699	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF699	HGNC	protein_coding	OTTHUMT00000449010.1	C	NM_198535		9407494	-1	no_errors	ENST00000308650	ensembl	human	known	70_37	nonsense	SNP	0.000	A
