#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_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_Chromosome_hg18	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_End_position_hg18	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_Start_position_hg18	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_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_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
ZNF718	255403	genome.wustl.edu	37	4	155646	155646	+	lincRNA	SNP	G	G	A			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr4:155646G>A	ENST00000510175.1	+	0	1081							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		AATTCACTCTGGAAAAAATCC	0.373																																																0			4											32.0	37.0	35.0					4																	155646		2043	4222	6265	145646			255403			AK096662	CCDS75078.1, CCDS75079.1	4p16.3	2011-05-24			ENSG00000250312	ENSG00000250312		"""Zinc fingers, C2H2-type"""	26889	protein-coding gene	gene with protein product							Standard	XM_005278364		Approved	FLJ90036	uc003fzt.4	Q3SXZ3	OTTHUMG00000159873		4.37:g.155646G>A			145646	Q3SXZ4|Q3SXZ5	Nonsense_Mutation	SNP	NULL	p.W390*	ENST00000510175.1	37	c.1169		4																																																																																			-	NULL		0.373	ZNF718-002	KNOWN	basic	lincRNA	ZNF718	lincRNA	OTTHUMT00000357865.3	G	NM_001039127		145646	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	NM_001039127	genbank	human	provisional	54_36p	nonsense	SNP	1.000	A
HBQ1	3049	genome.wustl.edu	37	16	231070	231070	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr16:231070G>A	ENST00000199708.2	+	3	426	c.392G>A	c.(391-393)aGc>aAc	p.S131N	Y_RNA_ENST00000384514.1_RNA	NM_005331.4	NP_005322.1	P09105	HBAT_HUMAN	hemoglobin, theta 1	131					oxygen transport (GO:0015671)	hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			large_intestine(1)	1		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				AAGTTCCTGAGCCACGTTATC	0.662																																																0			16											57.0	61.0	59.0					16																	231070		2202	4299	6501	171070	SO:0001583	missense	3049			BC056686	CCDS10400.1	16p13.3	2014-05-19			ENSG00000086506	ENSG00000086506			4833	protein-coding gene	gene with protein product		142240				2649166	Standard	NM_005331		Approved	HBQ	uc002cfz.3	P09105	OTTHUMG00000060727	ENST00000199708.2:c.392G>A	16.37:g.231070G>A	ENSP00000199708:p.Ser131Asn		171070	Q13723|Q1W6G5	Missense_Mutation	SNP	superfamily_Globin_like,HMMPfam_Globin	p.S131N	ENST00000199708.2	37	c.392	CCDS10400.1	16	.	.	.	.	.	.	.	.	.	.	g	8.997	0.979170	0.18812	.	.	ENSG00000086506	ENST00000199708	D	0.93953	-3.32	3.83	-0.755	0.11061	Globin-like (1);Globin, structural domain (1);	1.058630	0.07268	N	0.868588	D	0.87613	0.6221	L	0.38953	1.18	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.74318	-0.3704	10	0.59425	D	0.04	-1.0507	3.9815	0.09497	0.3262:0.1756:0.4982:0.0	.	131	P09105	HBAT_HUMAN	N	131	ENSP00000199708:S131N	ENSP00000199708:S131N	S	+	2	0	HBQ1	171070	0.000000	0.05858	0.001000	0.08648	0.389000	0.30415	-0.062000	0.11674	-0.326000	0.08564	0.486000	0.48141	AGC	-	superfamily_Globin_like		0.662	HBQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBQ1	protein_coding	OTTHUMT00000134226.1	G	NM_005331		171070	+1	no_errors	NM_005331	genbank	human	reviewed	54_36p	missense	SNP	0.000	A
KRTAP5-5	439915	genome.wustl.edu	37	11	1651615	1651615	+	Missense_Mutation	SNP	A	A	G	rs576867883|rs74396270|rs71025765		TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr11:1651615A>G	ENST00000399676.2	+	1	583	c.545A>G	c.(544-546)tAc>tGc	p.Y182C		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	182	8 X 4 AA repeats of C-C-X-P.			Missing (in Ref. 1; BAD20201 and 2; CAF31639). {ECO:0000305}.		keratin filament (GO:0045095)		p.Y182_P191delYCCQSSCCKP(1)|p.Y192_P201delYCCQSSCCKP(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGTAAGCCTTACTGCTGCCAG	0.592																																																2	Deletion - In frame(2)	urinary_tract(1)|ovary(1)	11											65.0	74.0	71.0					11																	1651615		2200	4292	6492	1608191	SO:0001583	missense	439915			AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.545A>G	11.37:g.1651615A>G	ENSP00000382584:p.Tyr182Cys		1608191	A8MWN2	Missense_Mutation	SNP	PatternScan_MOLYBDOPTERIN_PROK_1,PatternScan_2FE2S_FER_1	p.Y182C	ENST00000399676.2	37	c.545	CCDS41592.1	11	.	.	.	.	.	.	.	.	.	.	a	0.771	-0.765830	0.02974	.	.	ENSG00000185940	ENST00000399676;ENST00000422553	T	0.01335	5.0	3.69	0.448	0.16614	.	.	.	.	.	T	0.00496	0.0016	N	0.00453	-1.485	0.58432	P	5.000000000032756E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.44065	-0.9352	8	0.37606	T	0.19	.	3.2614	0.06850	0.1044:0.1706:0.5496:0.1753	.	182	Q701N2	KRA55_HUMAN	C	182;153	ENSP00000382584:Y182C	ENSP00000382584:Y182C	Y	+	2	0	KRTAP5-5	1608191	0.006000	0.16342	0.000000	0.03702	0.003000	0.03518	1.388000	0.34442	-0.252000	0.09528	-0.366000	0.07423	TAC	-	NULL		0.592	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-5	protein_coding	OTTHUMT00000127919.1	A			1608191	+1	no_errors	NM_001001480	genbank	human	validated	54_36p	missense	SNP	0.439	G
HNRNPA1P41	100128701	genome.wustl.edu	37	9	4944997	4944997	+	IGR	SNP	C	C	T			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr9:4944997C>T								RCL1 (59080 upstream) : AL158147.1 (23099 downstream)																							TTGTCATTCCCGCTGAAACCA	0.517																																																0			9																																								4934997	SO:0001628	intergenic_variant	0																															9.37:g.4944997C>T			4934997		RNA	SNP	-	NULL		37	NULL		9																																																																																			-	-	0	0.517					LOC100128701			C			4934997	-1	pseudogene	XR_037797	genbank	human	model	54_36p	rna	SNP	0.020	T
TP53	7157	genome.wustl.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	17	GRCh37	CM010465|CM900211	TP53	M	rs121912651						151.0	112.0	125.0					17																	7577539		2203	4300	6503	7518264	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp		7518264	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.R248W	ENST00000269305.4	37	c.742	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG	-	HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546		7518264	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
USP43	124739	genome.wustl.edu	37	17	9631331	9631331	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr17:9631331C>T	ENST00000285199.7	+	15	2492	c.2396C>T	c.(2395-2397)gCa>gTa	p.A799V	USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Missense_Mutation_p.A794V	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	799					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						AGCATGAAGGCACCCACCACT	0.572																																																0			17											61.0	65.0	64.0					17																	9631331		2038	4187	6225	9572056	SO:0001583	missense	124739			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.2396C>T	17.37:g.9631331C>T	ENSP00000285199:p.Ala799Val		9572056	A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2	p.A799V	ENST00000285199.7	37	c.2396	CCDS45610.1	17	.	.	.	.	.	.	.	.	.	.	C	7.019	0.558260	0.13436	.	.	ENSG00000154914	ENST00000285199	T	0.09255	3.0	5.17	-10.2	0.00374	.	0.746779	0.11395	N	0.568413	T	0.02848	0.0085	N	0.08118	0	0.19300	N	0.999978	B;B;B;B	0.24618	0.007;0.007;0.007;0.107	B;B;B;B	0.18871	0.004;0.006;0.006;0.023	T	0.29971	-0.9994	10	0.42905	T	0.14	0.3456	1.2864	0.02052	0.2118:0.1551:0.1831:0.45	.	794;488;799;311	B7ZVX5;Q70EL4-3;Q70EL4;Q70EL4-2	.;.;UBP43_HUMAN;.	V	799	ENSP00000285199:A799V	ENSP00000285199:A799V	A	+	2	0	USP43	9572056	0.000000	0.05858	0.001000	0.08648	0.117000	0.20001	-1.206000	0.03011	-1.434000	0.01975	-0.345000	0.07892	GCA	-	NULL		0.572	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP43	protein_coding	OTTHUMT00000439855.3	C	NM_153210		9572056	+1	no_errors	NM_153210	genbank	human	validated	54_36p	missense	SNP	0.009	T
ICAM4	3386	genome.wustl.edu	37	19	10398777	10398777	+	Silent	SNP	G	G	A			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr19:10398777G>A	ENST00000380770.3	+	3	859	c.813G>A	c.(811-813)gcG>gcA	p.A271A	ICAM4_ENST00000393717.2_3'UTR|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM5_ENST00000221980.4_5'Flank|CTD-2369P2.5_ENST00000592893.1_RNA|ICAM4_ENST00000340992.4_Missense_Mutation_p.V246I	NM_001544.4	NP_001535.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	271					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			AGTCCCAGGCGTAAAGGGGGA	0.547																																																0			19											81.0	80.0	80.0					19																	10398777		2203	4300	6503	10259777	SO:0001819	synonymous_variant	3386			X93093	CCDS12232.1, CCDS32904.1, CCDS42500.1	19p13.2	2014-07-19	2006-02-23		ENSG00000105371	ENSG00000105371		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5347	protein-coding gene	gene with protein product		614088	"""intercellular adhesion molecule 4, Landsteiner-Wiener blood group"", ""Landsteiner-Wiener blood group"", ""intercellular adhesion molecule 4 (LW blood group)"""	LW		8639917, 6431896	Standard	NM_001039132		Approved	CD242	uc002mnr.2	Q14773	OTTHUMG00000180405	ENST00000380770.3:c.813G>A	19.37:g.10398777G>A			10259777	A0M8X2|Q14771|Q14772|Q16375|Q9BWR0	Missense_Mutation	SNP	HMMPfam_ICAM_N,superfamily_SSF48726	p.V246I	ENST00000380770.3	37	c.736	CCDS12232.1	19	.	.	.	.	.	.	.	.	.	.	g	11.98	1.800333	0.31869	.	.	ENSG00000105371	ENST00000340992	T	0.26373	1.74	3.4	-6.28	0.02020	.	651.791000	0.01653	U	0.024673	T	0.17789	0.0427	.	.	.	0.09310	N	0.99999	B	0.02656	0.0	B	0.04013	0.001	T	0.33624	-0.9861	9	0.87932	D	0	3.4188	6.6842	0.23136	0.6589:0.1458:0.1952:0.0	.	246	Q9BWR0	.	I	246	ENSP00000342114:V246I	ENSP00000342114:V246I	V	+	1	0	ICAM4	10259777	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.695000	0.00828	-1.189000	0.02702	-0.988000	0.02552	GTA	-	NULL		0.547	ICAM4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ICAM4	protein_coding	OTTHUMT00000451214.1	G	NM_001544		10259777	+1	no_errors	NM_001039132	genbank	human	reviewed	54_36p	missense	SNP	0.000	A
MYH4	4622	genome.wustl.edu	37	17	10351287	10351287	+	Silent	SNP	G	G	A			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr17:10351287G>A	ENST00000255381.2	-	34	4923	c.4813C>T	c.(4813-4815)Ctg>Ttg	p.L1605L	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1605					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCAGCATCCAGTGTACTCTGC	0.438																																																0			17											266.0	233.0	244.0					17																	10351287		2203	4300	6503	10292012	SO:0001819	synonymous_variant	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4813C>T	17.37:g.10351287G>A			10292012		Silent	SNP	HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_Myosin_tail_1	p.L1605	ENST00000255381.2	37	c.4813	CCDS11154.1	17																																																																																			-	HMMPfam_Myosin_tail_1		0.438	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	protein_coding	OTTHUMT00000252731.1	G	NM_017533		10292012	-1	no_errors	NM_017533	genbank	human	validated	54_36p	silent	SNP	0.996	A
ANKRD28	23243	genome.wustl.edu	37	3	15778600	15778600	+	Silent	SNP	G	G	A			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr3:15778600G>A	ENST00000399451.2	-	5	769	c.402C>T	c.(400-402)aaC>aaT	p.N134N	ANKRD28_ENST00000383777.1_Silent_p.N167N|RN7SL4P_ENST00000584058.1_RNA|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	134						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GATCAGATACGTTTACATTAC	0.428																																																0			3											161.0	153.0	156.0					3																	15778600		1957	4152	6109	15753604	SO:0001819	synonymous_variant	23243			AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.402C>T	3.37:g.15778600G>A			15753604	B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Silent	SNP	HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_Ank	p.N134	ENST00000399451.2	37	c.402	CCDS46769.1	3																																																																																			-	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank		0.428	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	ANKRD28	protein_coding	OTTHUMT00000339758.1	G	NM_015199		15753604	-1	no_errors	NM_015199	genbank	human	provisional	54_36p	silent	SNP	1.000	A
BZW2	28969	genome.wustl.edu	37	7	16705117	16705117	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr7:16705117C>T	ENST00000433922.2	+	2	227	c.49C>T	c.(49-51)Cgg>Tgg	p.R17W	BZW2_ENST00000452975.2_Missense_Mutation_p.R17W|BZW2_ENST00000405202.1_Intron|BZW2_ENST00000258761.3_Missense_Mutation_p.R17W|BZW2_ENST00000432311.1_3'UTR	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	17					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	membrane (GO:0016020)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		GTTCAAAACTCGGAAAAGGGG	0.378																																																0			7											54.0	57.0	56.0					7																	16705117		2203	4300	6503	16671642	SO:0001583	missense	28969			AF083246	CCDS5362.1	7p21.3	2008-07-18			ENSG00000136261	ENSG00000136261			18808	protein-coding gene	gene with protein product						11042152	Standard	NM_001159767		Approved	HSPC028, MST017, MSTP017	uc003stj.2	Q9Y6E2	OTTHUMG00000130755	ENST00000433922.2:c.49C>T	7.37:g.16705117C>T	ENSP00000397249:p.Arg17Trp		16671642	A4D123|Q3B779|Q96JW5|Q9H3F7	Missense_Mutation	SNP	superfamily_ARM repeat,HMMSmart_SM00515,HMMPfam_W2	p.R17W	ENST00000433922.2	37	c.49	CCDS5362.1	7	.	.	.	.	.	.	.	.	.	.	c	14.97	2.695476	0.48202	.	.	ENSG00000136261	ENST00000415365;ENST00000258761;ENST00000433922;ENST00000452975;ENST00000446596;ENST00000438834;ENST00000430000	T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.44	3.58	0.41010	.	0.270213	0.32002	N	0.006726	T	0.64216	0.2578	M	0.85945	2.785	0.53005	D	0.999967	D;D;D	0.89917	1.0;0.999;0.995	D;D;P	0.75020	0.985;0.928;0.717	T	0.66732	-0.5849	10	0.87932	D	0	-8.158	9.5215	0.39138	0.43:0.4561:0.1139:0.0	.	17;17;17	E7ETZ4;Q96JW5;Q9Y6E2	.;.;BZW2_HUMAN	W	17	ENSP00000403481:R17W;ENSP00000258761:R17W;ENSP00000397249:R17W;ENSP00000411715:R17W;ENSP00000412750:R17W;ENSP00000415924:R17W;ENSP00000416531:R17W	ENSP00000258761:R17W	R	+	1	2	BZW2	16671642	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.760000	0.38430	0.738000	0.32606	0.651000	0.88453	CGG	-	NULL		0.378	BZW2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BZW2	protein_coding	OTTHUMT00000253256.2	C	NM_014038		16671642	+1	no_errors	NM_014038	genbank	human	provisional	54_36p	missense	SNP	0.999	T
MRGPRX4	117196	genome.wustl.edu	37	11	18195327	18195327	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr11:18195327C>T	ENST00000314254.3	+	1	944	c.524C>T	c.(523-525)aCg>aTg	p.T175M	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TGGTGTGAAACGTCAGATTTC	0.517																																																0			11											259.0	244.0	249.0					11																	18195327		2199	4293	6492	18151903	SO:0001583	missense	117196			AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"""GPCR / Class A : Orphans"""	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.524C>T	11.37:g.18195327C>T	ENSP00000314042:p.Thr175Met		18151903	Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.T175M	ENST00000314254.3	37	c.524	CCDS7831.1	11	.	.	.	.	.	.	.	.	.	.	C	12.23	1.876340	0.33162	.	.	ENSG00000179817	ENST00000314254	T	0.37915	1.17	2.85	-5.7	0.02421	GPCR, rhodopsin-like superfamily (1);	1.895520	0.02522	N	0.092631	T	0.40040	0.1101	M	0.74389	2.26	0.09310	N	1	D	0.53151	0.958	P	0.47864	0.559	T	0.52056	-0.8626	10	0.36615	T	0.2	.	4.2616	0.10744	0.6259:0.1918:0.0:0.1824	.	175	Q96LA9	MRGX4_HUMAN	M	175	ENSP00000314042:T175M	ENSP00000314042:T175M	T	+	2	0	MRGPRX4	18151903	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.716000	0.04991	-1.019000	0.03358	0.430000	0.28490	ACG	-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.517	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX4	protein_coding	OTTHUMT00000389788.1	C	NM_054032		18151903	+1	no_errors	NM_054032	genbank	human	provisional	54_36p	missense	SNP	0.000	T
ITPRIPL2	162073	genome.wustl.edu	37	16	19127325	19127325	+	Silent	SNP	C	C	A			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr16:19127325C>A	ENST00000381440.3	+	1	2072	c.1542C>A	c.(1540-1542)cgC>cgA	p.R514R	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	514						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GGGGTCCCCGCTACCTTGCCA	0.672																																																0			16											48.0	51.0	50.0					16																	19127325		2197	4300	6497	19034826	SO:0001819	synonymous_variant	162073				CCDS32395.1	16p12.3	2011-04-28	2011-04-28		ENSG00000205730	ENSG00000205730			27257	protein-coding gene	gene with protein product			"""inositol 1,4,5-triphosphate receptor interacting protein-like 2"""				Standard	NM_001034841		Approved	FLJ22994, MGC126798, MGC126800, LOC162073	uc002dfu.4	Q3MIP1		ENST00000381440.3:c.1542C>A	16.37:g.19127325C>A			19034826		Silent	SNP	NULL	p.R514	ENST00000381440.3	37	c.1542	CCDS32395.1	16																																																																																			-	NULL		0.672	ITPRIPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPRIPL2	protein_coding	OTTHUMT00000435827.3	C	NM_001034841		19034826	+1	no_errors	NM_001034841	genbank	human	validated	54_36p	silent	SNP	0.996	A
SLC24A3	57419	genome.wustl.edu	37	20	19261697	19261697	+	Silent	SNP	C	C	T			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr20:19261697C>T	ENST00000328041.6	+	2	434	c.237C>T	c.(235-237)gcC>gcT	p.A79A	RP5-1027G4.3_ENST00000319682.2_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	79					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.A79A(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCGAAGATGCCGGACTCCGGA	0.547																																																1	Substitution - coding silent(1)	endometrium(1)	20											153.0	126.0	135.0					20																	19261697		2203	4300	6503	19209697	SO:0001819	synonymous_variant	57419			AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.237C>T	20.37:g.19261697C>T			19209697	B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Silent	SNP	HMMPfam_Na_Ca_ex	p.A79	ENST00000328041.6	37	c.237	CCDS13140.1	20																																																																																			-	NULL		0.547	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A3	protein_coding	OTTHUMT00000078207.4	C	NM_020689		19209697	+1	no_errors	NM_020689	genbank	human	validated	54_36p	silent	SNP	0.000	T
GABRB3	2562	genome.wustl.edu	37	15	26866597	26866597	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr15:26866597C>T	ENST00000311550.5	-	4	436	c.325G>A	c.(325-327)Gac>Aac	p.D109N	GABRB3_ENST00000541819.2_Missense_Mutation_p.D165N|GABRB3_ENST00000400188.3_Missense_Mutation_p.D38N|GABRB3_ENST00000299267.4_Missense_Mutation_p.D109N|GABRB3_ENST00000545868.1_Missense_Mutation_p.D24N	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	109					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACTCGATTGTCAAGCGTGAGG	0.438																																																0			15											105.0	102.0	103.0					15																	26866597		2203	4300	6503	24417690	SO:0001583	missense	2562				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.325G>A	15.37:g.26866597C>T	ENSP00000308725:p.Asp109Asn		24417690	B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb	p.D109N	ENST00000311550.5	37	c.325	CCDS10019.1	15	.	.	.	.	.	.	.	.	.	.	C	31	5.102369	0.94245	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868;ENST00000555094	T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	5.81	5.81	0.92471	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.82384	0.5025	L	0.33668	1.02	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.995	D;D;D	0.76575	0.988;0.945;0.945	T	0.77490	-0.2568	10	0.20519	T	0.43	.	19.0679	0.93119	0.0:1.0:0.0:0.0	.	165;109;109	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	N	109;165;109;38;24;24	ENSP00000308725:D109N;ENSP00000442408:D165N;ENSP00000299267:D109N;ENSP00000383049:D38N;ENSP00000439169:D24N;ENSP00000452272:D24N	ENSP00000299267:D109N	D	-	1	0	GABRB3	24417690	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.665000	0.83852	2.752000	0.94435	0.467000	0.42956	GAC	-	superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD		0.438	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB3	protein_coding	OTTHUMT00000251352.2	C			24417690	-1	no_errors	NM_000814	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
SNX17	9784	genome.wustl.edu	37	2	27599040	27599040	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr2:27599040G>T	ENST00000233575.2	+	12	1394	c.1172G>T	c.(1171-1173)aGt>aTt	p.S391I	SNX17_ENST00000537606.1_Missense_Mutation_p.S366I|SNX17_ENST00000542478.1_Missense_Mutation_p.S177I|ZNF513_ENST00000491924.1_5'Flank|SNX17_ENST00000543024.1_Missense_Mutation_p.S177I	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	391	FERM-like.|PTB-like F3 module.				cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGGCGGCAGTATCAGGAAG	0.517																																																0			2											133.0	125.0	128.0					2																	27599040		2203	4300	6503	27452544	SO:0001583	missense	9784			D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"""Sorting nexins"""	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.1172G>T	2.37:g.27599040G>T	ENSP00000233575:p.Ser391Ile		27452544	B4DQM7|Q53HN7|Q6IAS3	Missense_Mutation	SNP	HMMPfam_PX,HMMSmart_PX,superfamily_PX,HMMPfam_FERM_M	p.S391I	ENST00000233575.2	37	c.1172	CCDS1750.1	2	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527147	0.64860	.	.	ENSG00000115234	ENST00000233575;ENST00000543024;ENST00000537606;ENST00000542478	T;T;T;T	0.35048	1.74;1.33;1.33;1.33	5.88	5.01	0.66863	.	0.033453	0.85682	D	0.000000	T	0.48554	0.1506	M	0.69823	2.125	0.80722	D	1	P;D;D;P	0.61080	0.69;0.989;0.989;0.95	B;P;P;P	0.50708	0.107;0.648;0.648;0.512	T	0.54302	-0.8314	10	0.62326	D	0.03	-7.2161	13.9669	0.64213	0.0734:0.0:0.9266:0.0	.	366;379;371;391	B4DQM7;B4DTB8;B4DQ37;Q15036	.;.;.;SNX17_HUMAN	I	391;177;366;177	ENSP00000233575:S391I;ENSP00000441779:S177I;ENSP00000439208:S366I;ENSP00000442567:S177I	ENSP00000233575:S391I	S	+	2	0	SNX17	27452544	1.000000	0.71417	0.955000	0.39395	0.981000	0.71138	7.767000	0.85331	1.502000	0.48669	0.561000	0.74099	AGT	-	NULL		0.517	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX17	protein_coding	OTTHUMT00000215024.1	G	NM_014748		27452544	+1	no_errors	NM_014748	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
IFT172	26160	genome.wustl.edu	37	2	27701014	27701014	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr2:27701014T>C	ENST00000260570.3	-	11	1118	c.1015A>G	c.(1015-1017)Aag>Gag	p.K339E	RNU6-986P_ENST00000363133.1_RNA|IFT172_ENST00000359466.6_Missense_Mutation_p.K339E|IFT172_ENST00000416524.2_Missense_Mutation_p.K318E	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	339					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GACAGGTTCTTCACAATCACC	0.502																																																0			2											166.0	153.0	157.0					2																	27701014		2203	4300	6503	27554518	SO:0001583	missense	26160			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.1015A>G	2.37:g.27701014T>C	ENSP00000260570:p.Lys339Glu		27554518	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,superfamily_TPR-like,superfamily_HCP-like	p.K339E	ENST00000260570.3	37	c.1015	CCDS1755.1	2	.	.	.	.	.	.	.	.	.	.	T	31	5.099508	0.94197	.	.	ENSG00000138002	ENST00000260570;ENST00000359466;ENST00000416524	T;D;D	0.95918	3.45;-3.85;-3.85	5.98	5.98	0.97165	WD40 repeat-like-containing domain (1);	0.094085	0.64402	D	0.000001	D	0.96904	0.8989	M	0.85945	2.785	0.58432	D	0.999992	D;P;B	0.56287	0.975;0.561;0.386	P;B;B	0.52598	0.703;0.246;0.379	D	0.97211	0.9871	10	0.66056	D	0.02	-23.6356	15.2724	0.73712	0.0:0.0:0.0:1.0	.	339;339;339	A5PKZ0;Q9UG01-2;Q9UG01	.;.;IF172_HUMAN	E	339;339;318	ENSP00000260570:K339E;ENSP00000352443:K339E;ENSP00000407408:K318E	ENSP00000260570:K339E	K	-	1	0	IFT172	27554518	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.647000	0.83462	2.289000	0.77006	0.528000	0.53228	AAG	-	superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase		0.502	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	protein_coding	OTTHUMT00000250213.2	T	NM_015662		27554518	-1	no_errors	NM_015662	genbank	human	validated	54_36p	missense	SNP	1.000	C
Unknown	0	genome.wustl.edu	37	16	33401359	33401359	+	IGR	SNP	T	T	G			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr16:33401359T>G								RP11-23E10.4 (34546 upstream) : BMS1P8 (95803 downstream)																							TTTAGGGGTTTTAAACTACCT	0.423																																																0			16																																								33308860	SO:0001628	intergenic_variant	647211																															16.37:g.33401359T>G			33308860		RNA	SNP	-	NULL		37	NULL		16																																																																																			-	-	0	0.423					LOC647211			T			33308860	+1	pseudogene	XR_017499	genbank	human	model	54_36p	rna	SNP	0.999	G
C17orf98	388381	genome.wustl.edu	37	17	36997526	36997526	+	Silent	SNP	C	C	T			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr17:36997526C>T	ENST00000398575.4	-	1	182	c.117G>A	c.(115-117)gcG>gcA	p.A39A		NM_001080465.2	NP_001073934.1	A8MV24	CQ098_HUMAN	chromosome 17 open reading frame 98	39										endometrium(5)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(3)	14						AGGGCGGAATCGCCGACCACA	0.612																																																0			17											53.0	55.0	54.0					17																	36997526		2005	4177	6182	34251052	SO:0001819	synonymous_variant	388381			AC006449, DY654789	CCDS42310.1	17q12	2014-05-06			ENSG00000214556	ENSG00000275489			34492	protein-coding gene	gene with protein product						16625196	Standard	NM_001080465		Approved	LOC388381	uc002hqv.2	A8MV24	OTTHUMG00000188506	ENST00000398575.4:c.117G>A	17.37:g.36997526C>T			34251052		Silent	SNP	NULL	p.A39	ENST00000398575.4	37	c.117	CCDS42310.1	17																																																																																			-	NULL		0.612	C17orf98-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C17orf98	protein_coding	OTTHUMT00000255469.2	C	NM_001080465		34251052	-1	no_errors	NM_001080465	genbank	human	validated	54_36p	silent	SNP	0.820	T
CCIN	881	genome.wustl.edu	37	9	36170089	36170089	+	Missense_Mutation	SNP	C	C	T	rs566301509		TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr9:36170089C>T	ENST00000335119.2	+	1	701	c.590C>T	c.(589-591)gCg>gTg	p.A197V		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	197	BACK.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GAAGACCAGGCGCTCAGCGCA	0.502																																																0			9											61.0	59.0	60.0					9																	36170089		2203	4300	6503	36160089	SO:0001583	missense	881			Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.590C>T	9.37:g.36170089C>T	ENSP00000334996:p.Ala197Val		36160089	Q9BXG7	Missense_Mutation	SNP	superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMSmart_SM00612,HMMPfam_Kelch_1,PatternScan_MULTICOPPER_OXIDASE1	p.A197V	ENST00000335119.2	37	c.590	CCDS6599.1	9	.	.	.	.	.	.	.	.	.	.	C	4.487	0.090205	0.08632	.	.	ENSG00000185972	ENST00000335119	T	0.61158	0.13	5.55	5.55	0.83447	BTB/Kelch-associated (2);	0.000000	0.52532	D	0.000075	T	0.34366	0.0895	N	0.17082	0.46	0.39021	D	0.959748	B	0.33612	0.419	B	0.23574	0.047	T	0.38243	-0.9670	10	0.02654	T	1	-6.3303	14.9883	0.71365	0.0:1.0:0.0:0.0	.	197	Q13939	CALI_HUMAN	V	197	ENSP00000334996:A197V	ENSP00000334996:A197V	A	+	2	0	CCIN	36160089	0.893000	0.30496	0.995000	0.50966	0.983000	0.72400	1.506000	0.35747	2.607000	0.88179	0.563000	0.77884	GCG	-	HMMPfam_BACK		0.502	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCIN	protein_coding	OTTHUMT00000052418.1	C	NM_005893		36160089	+1	no_errors	NM_005893	genbank	human	reviewed	54_36p	missense	SNP	0.970	T
RBM47	54502	genome.wustl.edu	37	4	40440557	40440557	+	Nonsense_Mutation	SNP	G	G	C			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr4:40440557G>C	ENST00000381793.2	-	3	750	c.354C>G	c.(352-354)taC>taG	p.Y118*	RBM47_ENST00000319592.4_Nonsense_Mutation_p.Y118*|RBM47_ENST00000514014.1_Nonsense_Mutation_p.Y80*|RBM47_ENST00000381795.6_Nonsense_Mutation_p.Y118*|RBM47_ENST00000295971.7_Nonsense_Mutation_p.Y118*|RBM47_ENST00000515809.1_Intron			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	118	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GCTTGTGGCAGTACATGACGA	0.647																																																0			4											65.0	56.0	59.0					4																	40440557		2203	4300	6503	40135314	SO:0001587	stop_gained	54502			AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.354C>G	4.37:g.40440557G>C	ENSP00000371212:p.Tyr118*		40135314	A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Nonsense_Mutation	SNP	superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1	p.Y118*	ENST00000381793.2	37	c.354	CCDS43223.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.624690	0.96660	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014;ENST00000515053;ENST00000513473;ENST00000505414;ENST00000514782;ENST00000507180	.	.	.	5.58	4.73	0.59995	.	0.056273	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-16.8838	14.732	0.69388	0.0706:0.0:0.9294:0.0	.	.	.	.	X	118;118;118;118;80;118;118;118;118;118	.	ENSP00000295971:Y118X	Y	-	3	2	RBM47	40135314	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.926000	0.63433	2.635000	0.89317	0.313000	0.20887	TAC	-	superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1		0.647	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM47	protein_coding	OTTHUMT00000250456.2	G	NM_019027		40135314	-1	no_errors	NM_001098634	genbank	human	validated	54_36p	nonsense	SNP	1.000	C
CDH4	1002	genome.wustl.edu	37	20	60427938	60427938	+	Silent	SNP	C	C	T	rs2229574	byFrequency	TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr20:60427938C>T	ENST00000360469.5	+	6	949	c.861C>T	c.(859-861)gaC>gaT	p.D287D	CDH4_ENST00000543233.1_Silent_p.D213D	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	287	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCTCCGTGGACGAGGGCTCCA	0.597													C|||	10	0.00199681	0.0	0.0043	5008	,	,		19177	0.001		0.005	False		,,,				2504	0.001															0			20						C		4,4402	8.1+/-20.4	0,4,2199	203.0	165.0	178.0		861	1.1	1.0	20	dbSNP_134	178	51,8549	33.3+/-86.6	0,51,4249	no	coding-synonymous	CDH4	NM_001794.2		0,55,6448	TT,TC,CC		0.593,0.0908,0.4229		287/917	60427938	55,12951	2203	4300	6503	59861333	SO:0001819	synonymous_variant	1002			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.861C>T	20.37:g.60427938C>T			59861333	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	superfamily_Cadherin,HMMPfam_Cadherin_pro,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C	p.D287	ENST00000360469.5	37	c.861	CCDS13488.1	20																																																																																			-	superfamily_Cadherin,HMMPfam_Cadherin		0.597	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	protein_coding	OTTHUMT00000079965.2	C	NM_001794		59861333	+1	no_errors	NM_001794	genbank	human	reviewed	54_36p	silent	SNP	0.931	T
ADGRF5P1	389740	genome.wustl.edu	37	9	66516725	66516725	+	RNA	SNP	G	G	T			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr9:66516725G>T	ENST00000590130.1	-	0	980																											AGAGTGGCGTGAGGACCCCAG	0.507																																																0			9																																								66256545			389740																															9.37:g.66516725G>T			66256545		RNA	SNP	-	NULL	ENST00000590130.1	37	NULL		9																																																																																			-	-		0.507	RP11-262H14.7-002	KNOWN	basic	processed_transcript	LOC389740	pseudogene	OTTHUMT00000459856.1	G			66256545	-1	pseudogene	XR_016479	genbank	human	model	54_36p	rna	SNP	0.996	T
DTX2	113878	genome.wustl.edu	37	7	76126737	76126737	+	Missense_Mutation	SNP	C	C	T	rs145964625		TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr7:76126737C>T	ENST00000324432.5	+	7	1603	c.1093C>T	c.(1093-1095)Cgt>Tgt	p.R365C	DTX2_ENST00000413936.2_Missense_Mutation_p.R365C|DTX2_ENST00000430490.2_Missense_Mutation_p.R365C|DTX2_ENST00000307569.8_Intron|DTX2_ENST00000446820.2_Intron|DTX2_ENST00000446600.1_Missense_Mutation_p.R274C	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	365					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R365C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						TCCCGCCTCCCGTCTGGCTTC	0.557																																																1	Substitution - Missense(1)	large_intestine(1)	7											34.0	34.0	34.0					7																	76126737		2199	4273	6472	75964673	SO:0001583	missense	113878				CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.1093C>T	7.37:g.76126737C>T	ENSP00000322885:p.Arg365Cys		75964673	Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation	SNP	HMMPfam_WWE,HMMSmart_SM00678,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4	p.R365C	ENST00000324432.5	37	c.1093	CCDS5587.1	7	.	.	.	.	.	.	.	.	.	.	.	13.40	2.224425	0.39300	.	.	ENSG00000091073	ENST00000324432;ENST00000541989;ENST00000446600;ENST00000413936;ENST00000430490	T;T;T;T	0.12147	2.72;2.71;2.72;2.72	5.41	-3.71	0.04424	.	1.247470	0.05079	N	0.483163	T	0.07188	0.0182	N	0.04203	-0.255	0.80722	D	1	B;B;B	0.10296	0.003;0.0;0.0	B;B;B	0.08055	0.003;0.0;0.0	T	0.22243	-1.0222	10	0.42905	T	0.14	-0.0088	12.0171	0.53319	0.1235:0.6798:0.0:0.1966	.	274;274;365	F5GX89;E7ET89;Q86UW9	.;.;DTX2_HUMAN	C	365;274;274;365;365	ENSP00000322885:R365C;ENSP00000397648:R274C;ENSP00000390218:R365C;ENSP00000411986:R365C	ENSP00000322885:R365C	R	+	1	0	AC005522.1	75964673	0.878000	0.30173	0.971000	0.41717	0.991000	0.79684	-0.087000	0.11215	-0.633000	0.05545	-0.302000	0.09304	CGT	-	NULL		0.557	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DTX2	protein_coding	OTTHUMT00000253104.2	C			75964673	+1	no_errors	NM_001102594	genbank	human	validated	54_36p	missense	SNP	0.935	T
ADNP2	22850	genome.wustl.edu	37	18	77894040	77894040	+	Silent	SNP	A	A	G	rs201578344		TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr18:77894040A>G	ENST00000262198.4	+	4	1199	c.744A>G	c.(742-744)agA>agG	p.R248R		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	248					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ATAAGCTTAGATCTGTGATTT	0.428													A|||	1	0.000199681	0.0	0.0014	5008	,	,		22136	0.0		0.0	False		,,,				2504	0.0															0			18											75.0	76.0	76.0					18																	77894040		2203	4300	6503	75995031	SO:0001819	synonymous_variant	22850			AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.744A>G	18.37:g.77894040A>G			75995031	A8K951|O94943|Q9H9P3	Silent	SNP	superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain-like,HMMSmart_SM00389	p.R248	ENST00000262198.4	37	c.744	CCDS32853.1	18																																																																																			-	NULL		0.428	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP2	protein_coding	OTTHUMT00000418979.1	A	NM_014913		75995031	+1	no_errors	NM_014913	genbank	human	validated	54_36p	silent	SNP	0.208	G
CROT	54677	genome.wustl.edu	37	7	87011244	87011244	+	Missense_Mutation	SNP	A	A	G	rs536903511	byFrequency	TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr7:87011244A>G	ENST00000331536.3	+	11	1182	c.997A>G	c.(997-999)Atg>Gtg	p.M333V	CROT_ENST00000419147.2_Missense_Mutation_p.M361V|CROT_ENST00000442291.1_Missense_Mutation_p.M333V	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	333					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TTTTGATGCAATGATTATGGT	0.303													A|||	2	0.000399361	0.0015	0.0	5008	,	,		16436	0.0		0.0	False		,,,				2504	0.0															0			7											109.0	108.0	109.0					7																	87011244		2203	4297	6500	86849180	SO:0001583	missense	54677				CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.997A>G	7.37:g.87011244A>G	ENSP00000331981:p.Met333Val		86849180	A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	superfamily_CoA-dependent acyltransferases,HMMPfam_Carn_acyltransf,PatternScan_ACYLTRANSF_C_1,PatternScan_ACYLTRANSF_C_2	p.M333V	ENST00000331536.3	37	c.997	CCDS5604.1	7	.	.	.	.	.	.	.	.	.	.	A	19.21	3.784253	0.70222	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.88277	-2.36;-2.36;-2.36	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.88709	0.6510	L	0.52011	1.625	0.80722	D	1	D;D	0.61697	0.99;0.983	P;P	0.55260	0.772;0.464	D	0.85855	0.1406	10	0.02654	T	1	-19.9845	14.8035	0.69935	1.0:0.0:0.0:0.0	.	361;333	E7EQF2;Q9UKG9	.;OCTC_HUMAN	V	361;333;333	ENSP00000413575:M361V;ENSP00000331981:M333V;ENSP00000411983:M333V	ENSP00000331981:M333V	M	+	1	0	CROT	86849180	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	8.440000	0.90311	2.159000	0.67721	0.383000	0.25322	ATG	-	superfamily_CoA-dependent acyltransferases,HMMPfam_Carn_acyltransf		0.303	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROT	protein_coding	OTTHUMT00000253485.1	A	NM_021151		86849180	+1	no_errors	NM_021151	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
MMP12	4321	genome.wustl.edu	37	11	102738091	102738091	+	RNA	SNP	G	G	A			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr11:102738091G>A	ENST00000532855.1	-	0	916							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	TGAATTGTCAGGATTTGGCAA	0.403																																																0			11											130.0	123.0	125.0					11																	102738091		1851	4098	5949	102243301			4321			L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102738091G>A			102243301	B2R9X8|B7ZLF6|Q2M1L9	Missense_Mutation	SNP	"HMMPfam_PG_binding_1,superfamily_PGBD-like,PatternScan_CYSTEINE_SWITCH,HMMSmart_SM00235,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Peptidase_M10,PatternScan_ZINC_PROTEASE,superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120,PatternScan_HEMOPEXIN"	p.P274L	ENST00000532855.1	37	c.821		11																																																																																			-	NULL		0.403	MMP12-001	KNOWN	basic	processed_transcript	MMP12	processed_transcript	OTTHUMT00000386646.1	G	NM_002426		102243301	-1	no_errors	ENST00000326227	ensembl	human	known	54_36p	missense	SNP	0.024	A
GRIN3A	116443	genome.wustl.edu	37	9	104335629	104335629	+	Silent	SNP	G	G	T	rs145862529		TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr9:104335629G>T	ENST00000361820.3	-	9	3775	c.3175C>A	c.(3175-3177)Cgg>Agg	p.R1059R		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	1059					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TTGGTGGTCCGCAAGGCAGGG	0.527																																																0			9						G		0,4406		0,0,2203	123.0	112.0	116.0		3175	4.5	0.9	9	dbSNP_134	116	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GRIN3A	NM_133445.2		0,1,6502	TT,TG,GG		0.0116,0.0,0.0077		1059/1116	104335629	1,13005	2203	4300	6503	103375450	SO:0001819	synonymous_variant	116443				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.3175C>A	9.37:g.104335629G>T			103375450	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	superfamily_SSF53822,superfamily_SSF53850,HMMPfam_Lig_chan-Glu_bd,HMMSmart_PBPe,HMMPfam_Lig_chan	p.R1059	ENST00000361820.3	37	c.3175	CCDS6758.1	9																																																																																			-	NULL		0.527	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3A	protein_coding	OTTHUMT00000053453.1	G			103375450	-1	no_errors	NM_133445	genbank	human	reviewed	54_36p	silent	SNP	0.550	T
NRCAM	4897	genome.wustl.edu	37	7	107834872	107834872	+	Splice_Site	SNP	C	C	T			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr7:107834872C>T	ENST00000425651.2	-	13	1463	c.1464G>A	c.(1462-1464)tgG>tgA	p.W488*	NRCAM_ENST00000379022.4_Splice_Site_p.W488*|NRCAM_ENST00000351718.4_Splice_Site_p.W482*|NRCAM_ENST00000413765.2_Splice_Site_p.W469*|NRCAM_ENST00000379028.3_Splice_Site_p.W488*|NRCAM_ENST00000379024.4_Splice_Site_p.W469*	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	488	Ig-like 5.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CTCCTTTAAACCTTCATTACA	0.333																																																0			7											35.0	33.0	34.0					7																	107834872		2203	4299	6502	107622108	SO:0001630	splice_region_variant	4897				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.1464-1G>A	7.37:g.107834872C>T			107622108	A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Nonsense_Mutation	SNP	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,PatternScan_IG_MHC,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3	p.W488*	ENST00000425651.2	37	c.1464	CCDS47686.1	7	.	.	.	.	.	.	.	.	.	.	C	43	10.014315	0.99318	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	.	.	.	X	488;488;469;488;482;469;488;488;482	.	ENSP00000325269:W482X	W	-	3	0	NRCAM	107622108	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.294000	0.78760	2.832000	0.97577	0.655000	0.94253	TGG	-	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408		0.333	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NRCAM	protein_coding	OTTHUMT00000337942.2	C	NM_001037132	Nonsense_Mutation	107622108	-1	no_errors	NM_001037132	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T
EPB41L4B	54566	genome.wustl.edu	37	9	112042145	112042145	+	Silent	SNP	C	C	G			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr9:112042145C>G	ENST00000374566.3	-	2	880	c.363G>C	c.(361-363)gtG>gtC	p.V121V	EPB41L4B_ENST00000374557.4_Silent_p.V121V	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	121	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AATCTGTTTCCACAAGGTCCA	0.433																																																0			9											118.0	114.0	115.0					9																	112042145		1954	4151	6105	111081966	SO:0001819	synonymous_variant	54566			AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.363G>C	9.37:g.112042145C>G			111081966	Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Silent	SNP	HMMSmart_SM00295,superfamily_Ubiquitin-like,HMMPfam_FERM_N,superfamily_Second domain of FERM,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_PH domain-like,HMMPfam_FERM_C,HMMPfam_FA	p.V121	ENST00000374566.3	37	c.363	CCDS43859.1	9																																																																																			-	HMMSmart_SM00295,superfamily_Ubiquitin-like,HMMPfam_FERM_N		0.433	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L4B	protein_coding	OTTHUMT00000053592.1	C	NM_018424		111081966	-1	no_errors	NM_019114	genbank	human	validated	54_36p	silent	SNP	1.000	G
ZC3H6	376940	genome.wustl.edu	37	2	113080462	113080462	+	Silent	SNP	G	G	A	rs572742243		TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr2:113080462G>A	ENST00000409871.1	+	9	1724	c.1323G>A	c.(1321-1323)gcG>gcA	p.A441A	ZC3H6_ENST00000343936.4_Silent_p.A441A	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	441	Pro-rich.						metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						TGGATTTAGCGCATAAAATTG	0.299													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19640	0.0		0.0	False		,,,				2504	0.0															0			2											59.0	61.0	61.0					2																	113080462		1799	4067	5866	112796933	SO:0001819	synonymous_variant	376940			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.1323G>A	2.37:g.113080462G>A			112796933	A9JR71|Q6ZW96	Silent	SNP	superfamily_CCCH zinc finger,HMMPfam_zf-CCCH,HMMSmart_SM00356,superfamily_Multiheme cytochromes	p.A441	ENST00000409871.1	37	c.1323	CCDS46393.1	2																																																																																			-	NULL		0.299	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H6	protein_coding	OTTHUMT00000330551.1	G	NM_198581		112796933	+1	no_errors	NM_198581	genbank	human	validated	54_36p	silent	SNP	1.000	A
PHLDB2	90102	genome.wustl.edu	37	3	111603031	111603031	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr3:111603031A>G	ENST00000431670.2	+	2	518	c.107A>G	c.(106-108)gAg>gGg	p.E36G	PHLDB2_ENST00000412622.1_Missense_Mutation_p.E36G|PHLDB2_ENST00000393923.3_Missense_Mutation_p.E63G|PHLDB2_ENST00000478922.1_Missense_Mutation_p.E36G|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E36G|PHLDB2_ENST00000481953.1_Missense_Mutation_p.E36G|PHLDB2_ENST00000477695.1_Missense_Mutation_p.E36G	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	36						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AACATGATGGAGAGCCTCAGC	0.433																																																0			3											146.0	148.0	147.0					3																	111603031		2203	4300	6503	113085721	SO:0001583	missense	90102				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.107A>G	3.37:g.111603031A>G	ENSP00000405405:p.Glu36Gly		113085721	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH	p.E36G	ENST00000431670.2	37	c.107	CCDS46886.1	3	.	.	.	.	.	.	.	.	.	.	A	20.7	4.032682	0.75504	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.38077	1.16;1.22;1.18;1.19;1.22;1.18	5.87	5.87	0.94306	.	0.194603	0.47852	D	0.000218	T	0.48909	0.1526	L	0.50333	1.59	0.44531	D	0.99748	P;P;D;P;P	0.55605	0.682;0.925;0.972;0.787;0.868	B;P;P;B;B	0.56398	0.115;0.621;0.797;0.23;0.359	T	0.49409	-0.8943	10	0.87932	D	0	.	14.0962	0.65023	1.0:0.0:0.0:0.0	.	36;36;36;36;63	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	G	63;63;36;36;36;36;36;36;36	ENSP00000377500:E63G;ENSP00000405405:E36G;ENSP00000405292:E36G;ENSP00000418296:E36G;ENSP00000377502:E36G;ENSP00000418319:E36G	ENSP00000352764:E63G	E	+	2	0	PHLDB2	113085721	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	6.104000	0.71498	2.371000	0.80710	0.533000	0.62120	GAG	-	NULL		0.433	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	protein_coding	OTTHUMT00000354337.1	A	NM_145753		113085721	+1	no_errors	NM_145753	genbank	human	validated	54_36p	missense	SNP	1.000	G
FAM160B1	57700	genome.wustl.edu	37	10	116621238	116621238	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr10:116621238A>C	ENST00000369248.4	+	17	2572	c.2237A>C	c.(2236-2238)gAg>gCg	p.E746A	FAM160B1_ENST00000369250.3_Intron	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	746										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						GTGTTAGAAGAGTTCTGTAAG	0.398																																																0			10											136.0	124.0	128.0					10																	116621238		2203	4300	6503	116611228	SO:0001583	missense	57700			AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.2237A>C	10.37:g.116621238A>C	ENSP00000358251:p.Glu746Ala		116611228	Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	HMMPfam_RAI16-like	p.E746A	ENST00000369248.4	37	c.2237	CCDS31290.1	10	.	.	.	.	.	.	.	.	.	.	A	24.4	4.529188	0.85706	.	.	ENSG00000151553	ENST00000369248	T	0.52057	0.68	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.70281	0.3206	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.74244	-0.3728	10	0.87932	D	0	-23.7223	16.3871	0.83514	1.0:0.0:0.0:0.0	.	746	Q5W0V3	F16B1_HUMAN	A	746	ENSP00000358251:E746A	ENSP00000358251:E746A	E	+	2	0	FAM160B1	116611228	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.300000	0.96151	2.270000	0.75569	0.482000	0.46254	GAG	-	NULL		0.398	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM160B1	protein_coding	OTTHUMT00000050499.1	A	XM_049351		116611228	+1	no_errors	NM_020940	genbank	human	validated	54_36p	missense	SNP	1.000	C
KMT2A	4297	genome.wustl.edu	37	11	118359434	118359434	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr11:118359434A>G	ENST00000389506.5	+	11	4438	c.4438A>G	c.(4438-4440)Aaa>Gaa	p.K1480E	KMT2A_ENST00000534358.1_Missense_Mutation_p.K1480E|KMT2A_ENST00000354520.4_Missense_Mutation_p.K1442E			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1480					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)										TCGTCGTTGCAAATTCTGTCA	0.478																																																0			11											119.0	101.0	107.0					11																	118359434		2200	4296	6496	117864644	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.4438A>G	11.37:g.118359434A>G	ENSP00000374157:p.Lys1480Glu		117864644	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	PatternScan_HMGI_Y,HMMPfam_AT_hook,HMMPfam_zf-CXXC,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,PatternScan_RECR,HMMSmart_SM00297,superfamily_Bromodomain,HMMPfam_FYRN,HMMSmart_SM00541,PatternScan_EF_HAND_1,HMMPfam_FYRC,HMMSmart_SM00542,superfamily_SET domain,HMMPfam_SET,HMMSmart_SM00317,HMMSmart_SM00508	p.K1480E	ENST00000389506.5	37	c.4438	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	A	17.70	3.454932	0.63290	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313;ENST00000392873	D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27	5.52	5.52	0.82312	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.052533	0.85682	D	0.000000	D	0.90202	0.6937	M	0.65975	2.015	0.49582	D	0.999801	D;D	0.57257	0.959;0.979	P;P	0.52909	0.713;0.604	D	0.91325	0.5085	10	0.72032	D	0.01	.	15.938	0.79729	1.0:0.0:0.0:0.0	.	1480;1480	E9PQG7;Q03164	.;MLL1_HUMAN	E	1480;1480;1442;390;192	ENSP00000436786:K1480E;ENSP00000374157:K1480E;ENSP00000346516:K1442E;ENSP00000376612:K192E	ENSP00000346516:K1442E	K	+	1	0	MLL	117864644	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.323000	0.59221	2.222000	0.72286	0.533000	0.62120	AAA	-	HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_FYVE/PHD zinc finger		0.478	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	protein_coding	OTTHUMT00000399085.2	A	NM_005933		117864644	+1	no_errors	NM_005933	genbank	human	validated	54_36p	missense	SNP	1.000	G
ZCCHC8	55596	genome.wustl.edu	37	12	122958437	122958437	+	Silent	SNP	C	C	T	rs377551940		TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr12:122958437C>T	ENST00000336229.4	-	14	1861	c.1731G>A	c.(1729-1731)acG>acA	p.T577T	ZCCHC8_ENST00000538116.1_Silent_p.T188T|ZCCHC8_ENST00000536306.1_Silent_p.T339T|ZCCHC8_ENST00000543897.1_Silent_p.T339T	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	577					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GCTCATCCAGCGTCTGCTTTT	0.483																																																0			12						C		1,3901		0,1,1950	213.0	208.0	209.0		1731	1.7	0.0	12		209	0,8306		0,0,4153	no	coding-synonymous	ZCCHC8	NM_017612.3		0,1,6103	TT,TC,CC		0.0,0.0256,0.0082		577/708	122958437	1,12207	1951	4153	6104	121524390	SO:0001819	synonymous_variant	55596			BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1731G>A	12.37:g.122958437C>T			121524390	Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Silent	SNP	HMMPfam_zf-CCHC,HMMSmart_SM00343,HMMSmart_SM00581,HMMPfam_PSP	p.T577	ENST00000336229.4	37	c.1731		12																																																																																			-	NULL		0.483	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	ZCCHC8	protein_coding		C	NM_017612		121524390	-1	no_errors	NM_017612	genbank	human	validated	54_36p	silent	SNP	0.000	T
NCOR2	9612	genome.wustl.edu	37	12	124885183	124885183	+	Silent	SNP	G	G	A			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr12:124885183G>A	ENST00000405201.1	-	15	1677	c.1677C>T	c.(1675-1677)gaC>gaT	p.D559D	NCOR2_ENST00000404621.1_Silent_p.D558D|NCOR2_ENST00000429285.2_Silent_p.D558D|NCOR2_ENST00000356219.3_Silent_p.D559D|NCOR2_ENST00000404121.2_Silent_p.D129D|NCOR2_ENST00000397355.1_Silent_p.D559D			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	559					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCTCCTTCTCGTCGTTGTCCT	0.592																																																0			12											149.0	132.0	137.0					12																	124885183		1949	4148	6097	123451136	SO:0001819	synonymous_variant	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1677C>T	12.37:g.124885183G>A			123451136	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	superfamily_Homeodomain-like,HMMSmart_SM00717,HMMPfam_Myb_DNA-binding	p.D559	ENST00000405201.1	37	c.1677	CCDS41858.2	12																																																																																			-	NULL		0.592	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	protein_coding	OTTHUMT00000318173.2	G	NM_006312		123451136	-1	no_errors	NM_006312	genbank	human	validated	54_36p	silent	SNP	1.000	A
KIAA0408	9729	genome.wustl.edu	37	6	127768161	127768161	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr6:127768161T>C	ENST00000483725.3	-	5	1639	c.1303A>G	c.(1303-1305)Aat>Gat	p.N435D	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	435										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		AGCTTCTCATTCCTTGTAGTC	0.398																																																0			6											67.0	71.0	69.0					6																	127768161		2203	4299	6502	127809854	SO:0001583	missense	9729			AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.1303A>G	6.37:g.127768161T>C	ENSP00000435150:p.Asn435Asp		127809854	B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Missense_Mutation	SNP	NULL	p.N435D	ENST00000483725.3	37	c.1303	CCDS34531.1	6	.	.	.	.	.	.	.	.	.	.	T	14.34	2.507612	0.44558	.	.	ENSG00000189367	ENST00000465254;ENST00000483725	T	0.57752	0.38	5.18	5.18	0.71444	.	0.000000	0.42420	U	0.000720	T	0.60327	0.2260	M	0.66939	2.045	0.42098	D	0.991324	D	0.65815	0.995	D	0.62955	0.909	T	0.66988	-0.5784	10	0.87932	D	0	-15.2607	13.6139	0.62097	0.0:0.0:0.0:1.0	.	435	Q6ZU52	K0408_HUMAN	D	24;435	ENSP00000435150:N435D	ENSP00000436178:N24D	N	-	1	0	KIAA0408	127809854	1.000000	0.71417	1.000000	0.80357	0.036000	0.12997	6.774000	0.75012	1.953000	0.56701	0.533000	0.62120	AAT	-	NULL		0.398	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	KIAA0408	protein_coding	OTTHUMT00000042145.3	T	NM_014702		127809854	-1	no_errors	NM_014702	genbank	human	validated	54_36p	missense	SNP	0.991	C
ENOX2	10495	genome.wustl.edu	37	X	129801583	129801583	+	Silent	SNP	G	G	A			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chrX:129801583G>A	ENST00000370927.1	-	6	936	c.915C>T	c.(913-915)aaC>aaT	p.N305N	ENOX2_ENST00000370935.1_Silent_p.N276N|ENOX2_ENST00000394363.1_Silent_p.N276N|ENOX2_ENST00000338144.3_Silent_p.N305N			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	305					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						CAGCTTTCTCGTTCACCAGGC	0.498																																					Ovarian(101;828 1506 2951 9500 35258)											0			X											223.0	205.0	211.0					X																	129801583		2203	4300	6503	129629264	SO:0001819	synonymous_variant	10495			AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.915C>T	X.37:g.129801583G>A			129629264	A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Silent	SNP	superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1	p.N305	ENST00000370927.1	37	c.915	CCDS14626.1	X																																																																																			-	NULL		0.498	ENOX2-004	KNOWN	basic|CCDS	protein_coding	ENOX2	protein_coding	OTTHUMT00000058277.1	G	NM_182314		129629264	-1	no_errors	NM_182314	genbank	human	reviewed	54_36p	silent	SNP	0.965	A
ANKLE2	23141	genome.wustl.edu	37	12	133313634	133313634	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr12:133313634G>T	ENST00000357997.5	-	8	1527	c.1438C>A	c.(1438-1440)Ctc>Atc	p.L480I	ANKLE2_ENST00000337516.5_Missense_Mutation_p.L480I|ANKLE2_ENST00000542374.1_5'Flank|ANKLE2_ENST00000539605.1_Missense_Mutation_p.L418I	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	480					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GCTCTCAGGAGGGGCACGTAG	0.662																																																0			12											41.0	48.0	46.0					12																	133313634		1960	4141	6101	131823707	SO:0001583	missense	23141			AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.1438C>A	12.37:g.133313634G>T	ENSP00000350686:p.Leu480Ile		131823707	A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	HMMPfam_LEM,superfamily_LEM domain,superfamily_Ankyrin repeat	p.L480I	ENST00000357997.5	37	c.1438	CCDS41869.1	12	.	.	.	.	.	.	.	.	.	.	g	14.61	2.586488	0.46110	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516;ENST00000535036;ENST00000545623	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6	5.26	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.70168	0.3193	M	0.73319	2.225	0.51767	D	0.999931	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.71324	-0.4627	10	0.42905	T	0.14	-20.2631	14.4412	0.67318	0.0726:0.0:0.9274:0.0	.	480;480	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	I	418;480;480;43;250	ENSP00000446268:L418I;ENSP00000350686:L480I;ENSP00000337651:L480I;ENSP00000437585:L43I;ENSP00000438515:L250I	ENSP00000337651:L480I	L	-	1	0	ANKLE2	131823707	1.000000	0.71417	0.080000	0.20451	0.139000	0.21198	3.692000	0.54727	1.314000	0.45095	0.650000	0.86243	CTC	-	NULL		0.662	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE2	protein_coding	OTTHUMT00000397712.1	G			131823707	-1	no_errors	NM_015114	genbank	human	validated	54_36p	missense	SNP	0.948	T
LCN9	392399	genome.wustl.edu	37	9	138557549	138557549	+	Silent	SNP	C	C	T			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr9:138557549C>T	ENST00000277526.3	+	5	426	c.426C>T	c.(424-426)tgC>tgT	p.C142C	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	142						extracellular region (GO:0005576)	pheromone binding (GO:0005550)|transporter activity (GO:0005215)			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		AAGAAACCTGCGAAAAGTACG	0.572																																																0			9											44.0	44.0	44.0					9																	138557549		1925	4121	6046	137697370	SO:0001819	synonymous_variant	392399			AY301270	CCDS56593.1	9q34	2011-11-14			ENSG00000148386	ENSG00000148386		"""Lipocalins"""	17442	protein-coding gene	gene with protein product	"""MUP-like lipocalin"", ""epididymal-specific lipocalin-9"""	612903				15363845	Standard	NM_001001676		Approved		uc004cgk.2	Q8WX39	OTTHUMG00000020916	ENST00000277526.3:c.426C>T	9.37:g.138557549C>T			137697370	C9J5F0|Q6JVE7	Silent	SNP	superfamily_Lipocalins,PatternScan_LIPOCALIN,HMMPfam_Lipocalin	p.C142	ENST00000277526.3	37	c.426	CCDS56593.1	9																																																																																			-	superfamily_Lipocalins,HMMPfam_Lipocalin		0.572	LCN9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LCN9	protein_coding	OTTHUMT00000410711.1	C	NM_001001676		137697370	+1	no_errors	NM_001001676	genbank	human	provisional	54_36p	silent	SNP	0.006	T
FLG	2312	genome.wustl.edu	37	1	152276368	152276368	+	Missense_Mutation	SNP	C	C	G	rs201216189		TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr1:152276368C>G	ENST00000368799.1	-	3	11029	c.10994G>C	c.(10993-10995)aGt>aCt	p.S3665T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3665	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCACTGTCACTGGCCTGACT	0.587									Ichthyosis																																							0			1											34.0	36.0	36.0					1																	152276368		2201	4268	6469	150542992	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10994G>C	1.37:g.152276368C>G	ENSP00000357789:p.Ser3665Thr		150542992	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	superfamily_SSF47473,HMMPfam_S_100,PatternScan_S100_CABP,PatternScan_EF_HAND_1,HMMPfam_Filaggrin	p.S3665T	ENST00000368799.1	37	c.10994	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.369374	0.24771	.	.	ENSG00000143631	ENST00000368799	T	0.08008	3.14	4.62	1.67	0.24075	.	.	.	.	.	T	0.04724	0.0128	M	0.69823	2.125	0.09310	N	1	B	0.31383	0.321	B	0.42112	0.376	T	0.45731	-0.9241	9	0.15499	T	0.54	.	6.3601	0.21422	0.0:0.5359:0.3655:0.0986	.	3665	P20930	FILA_HUMAN	T	3665	ENSP00000357789:S3665T	ENSP00000357789:S3665T	S	-	2	0	FLG	150542992	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-0.297000	0.08276	0.647000	0.30713	0.552000	0.68991	AGT	-	HMMPfam_Filaggrin		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	protein_coding	OTTHUMT00000033742.1	C	NM_002016		150542992	-1	no_errors	NM_002016	genbank	human	provisional	54_36p	missense	SNP	0.016	G
UAP1	6675	genome.wustl.edu	37	1	162549332	162549332	+	Silent	SNP	C	C	T			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr1:162549332C>T	ENST00000367925.1	+	3	632	c.600C>T	c.(598-600)ccC>ccT	p.P200P	UAP1_ENST00000271469.3_Silent_p.P200P|UAP1_ENST00000367926.4_Silent_p.P200P|UAP1_ENST00000367924.1_Silent_p.P200P			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	200					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			GAATGCTCCCCGCCATGAGTT	0.368																																																0			1											71.0	75.0	74.0					1																	162549332		2203	4300	6503	160815956	SO:0001819	synonymous_variant	6675			AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.600C>T	1.37:g.162549332C>T			160815956	B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Silent	SNP	superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_UDPGP	p.P200	ENST00000367925.1	37	c.600		1																																																																																			-	superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_UDPGP		0.368	UAP1-002	KNOWN	basic	protein_coding	UAP1	protein_coding	OTTHUMT00000083203.1	C	NM_003115		160815956	+1	no_errors	NM_003115	genbank	human	validated	54_36p	silent	SNP	0.998	T
NCEH1	57552	genome.wustl.edu	37	3	172351333	172351333	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr3:172351333G>A	ENST00000475381.1	-	5	1392	c.1159C>T	c.(1159-1161)Ccc>Tcc	p.P387S	NCEH1_ENST00000538775.1_Missense_Mutation_p.P427S|NCEH1_ENST00000543711.1_Missense_Mutation_p.P254S|NCEH1_ENST00000273512.3_Missense_Mutation_p.P419S			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	387					lipid catabolic process (GO:0016042)|protein dephosphorylation (GO:0006470)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carboxylic ester hydrolase activity (GO:0052689)|phosphate ion binding (GO:0042301)|serine hydrolase activity (GO:0017171)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						AAGTTGGTGGGCCAGCTAGTG	0.498																																																0			3											110.0	103.0	106.0					3																	172351333		2203	4300	6503	173834027	SO:0001583	missense	57552			AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959			29260	protein-coding gene	gene with protein product		613234	"""arylacetamide deacetylase-like 1"""	AADACL1		10718198	Standard	NM_001146276		Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.1159C>T	3.37:g.172351333G>A	ENSP00000418571:p.Pro387Ser		173834027	B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4	Missense_Mutation	SNP	superfamily_alpha/beta-Hydrolases,HMMPfam_Abhydrolase_3,PatternScan_LIPASE_GDXG_SER	p.P419S	ENST00000475381.1	37	c.1255		3	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669768	0.88348	.	.	ENSG00000144959	ENST00000475381;ENST00000538775;ENST00000273512;ENST00000543711	T;T;T;T	0.08458	3.57;3.52;3.52;3.09	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.35158	0.0922	M	0.82923	2.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.04885	-1.0920	10	0.54805	T	0.06	-32.0214	19.8155	0.96566	0.0:0.0:1.0:0.0	.	427;387	F5H7K4;Q6PIU2	.;NCEH1_HUMAN	S	387;427;419;254	ENSP00000418571:P387S;ENSP00000442464:P427S;ENSP00000273512:P419S;ENSP00000443227:P254S	ENSP00000273512:P419S	P	-	1	0	NCEH1	173834027	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	9.471000	0.97696	2.679000	0.91253	0.585000	0.79938	CCC	-	superfamily_alpha/beta-Hydrolases		0.498	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	AADACL1	protein_coding	OTTHUMT00000346367.3	G	NM_020792		173834027	-1	no_errors	NM_020792	genbank	human	provisional	54_36p	missense	SNP	1.000	A
AGA	175	genome.wustl.edu	37	4	178363508	178363508	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr4:178363508G>A	ENST00000264595.2	-	1	149	c.22C>T	c.(22-24)Cct>Tct	p.P8S	AGA_ENST00000506853.1_5'UTR|RP11-130F10.1_ENST00000507023.1_RNA	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	8					protein deglycosylation (GO:0006517)|protein maturation (GO:0051604)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity (GO:0003948)|peptidase activity (GO:0008233)			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		AGAAGCACAGGCAAGTTCGAC	0.612																																																0			4											76.0	67.0	70.0					4																	178363508		2203	4300	6503	178600502	SO:0001583	missense	175			X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	3.5.1.26		318	protein-coding gene	gene with protein product	"""glycosylasparaginase"", ""N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"""	613228					Standard	NM_000027		Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.22C>T	4.37:g.178363508G>A	ENSP00000264595:p.Pro8Ser		178600502	B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Missense_Mutation	SNP	HMMPfam_Asparaginase_2,superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases)	p.P8S	ENST00000264595.2	37	c.22	CCDS3829.1	4	.	.	.	.	.	.	.	.	.	.	G	1.850	-0.465253	0.04476	.	.	ENSG00000038002	ENST00000264595	D	0.86769	-2.17	5.6	1.77	0.24775	.	1.838580	0.02297	N	0.070856	T	0.70868	0.3273	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.61540	-0.7042	10	0.07644	T	0.81	1.2552	1.9327	0.03331	0.232:0.1362:0.4915:0.1403	.	8	P20933	ASPG_HUMAN	S	8	ENSP00000264595:P8S	ENSP00000264595:P8S	P	-	1	0	AGA	178600502	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.061000	0.14366	0.005000	0.14708	-0.150000	0.13652	CCT	-	HMMPfam_Asparaginase_2		0.612	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGA	protein_coding	OTTHUMT00000361916.1	G	NM_000027		178600502	-1	no_errors	NM_000027	genbank	human	reviewed	54_36p	missense	SNP	0.000	A
ANKAR	150709	genome.wustl.edu	37	2	190571736	190571736	+	Silent	SNP	C	C	T			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr2:190571736C>T	ENST00000520309.1	+	9	2071	c.1983C>T	c.(1981-1983)atC>atT	p.I661I	ANKAR_ENST00000431575.2_Silent_p.I590I|ANKAR_ENST00000313581.4_Silent_p.I661I|ANKAR_ENST00000438402.2_Silent_p.I661I|ANKAR_ENST00000281412.6_Silent_p.I425I	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	661						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TGTTTTCTATCGGTGCTAACT	0.313																																																0			2											82.0	81.0	81.0					2																	190571736		2203	4300	6503	190279981	SO:0001819	synonymous_variant	150709			AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.1983C>T	2.37:g.190571736C>T			190279981	Q3ZCS6|Q4G0M2|Q6ZU02	Silent	SNP	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_ARM repeat,HMMPfam_Arm,HMMSmart_SM00185	p.I590	ENST00000520309.1	37	c.1770	CCDS33351.2	2																																																																																			-	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank		0.313	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKAR	protein_coding	OTTHUMT00000335045.3	C	NM_144708		190279981	+1	no_errors	NM_144708	genbank	human	provisional	54_36p	silent	SNP	0.997	T
NUAK2	81788	genome.wustl.edu	37	1	205277292	205277292	+	Splice_Site	SNP	C	C	T			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr1:205277292C>T	ENST00000367157.3	-	4	697		c.e4+1			NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GTGGGACTCACCTTGATATTC	0.512																																																0			1											98.0	94.0	96.0					1																	205277292		2203	4300	6503	203543915	SO:0001630	splice_region_variant	81788			AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"""SNF1/AMP activated protein kinase"""	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.570+1G>A	1.37:g.205277292C>T			203543915		Splice_Site	SNP	-	e4+1	ENST00000367157.3	37	c.570+1	CCDS1453.1	1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727499	0.89390	.	.	ENSG00000163545	ENST00000367157	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.142	0.93449	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NUAK2	203543915	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.818000	0.86416	2.619000	0.88677	0.561000	0.74099	.	-	-		0.512	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUAK2	protein_coding	OTTHUMT00000090390.1	C	NM_030952	Intron	203543915	-1	no_errors	NM_030952	genbank	human	provisional	54_36p	splice_site	SNP	1.000	T
USH2A	7399	genome.wustl.edu	37	1	215812579	215812579	+	Splice_Site	SNP	G	G	T			TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr1:215812579G>T	ENST00000307340.3	-	69	15356	c.14970C>A	c.(14968-14970)acC>acA	p.T4990T	USH2A_ENST00000366943.2_Splice_Site_p.T4990T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4990					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGAAAAAGAAGGCTAGACAAA	0.388										HNSCC(13;0.011)																																						0			1											143.0	144.0	143.0					1																	215812579		2203	4300	6503	213879202	SO:0001630	splice_region_variant	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14969-1C>A	1.37:g.215812579G>T			213879202	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00560,HMMSmart_SM00136,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_LAM_1,PatternScan_EGF_1,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,HMMSmart_SM00282,HMMPfam_Laminin_G_2	p.T4990	ENST00000307340.3	37	c.14970	CCDS31025.1	1																																																																																			-	NULL		0.388	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	protein_coding	OTTHUMT00000128138.1	G	NM_007123	Silent	213879202	-1	no_errors	NM_206933	genbank	human	reviewed	54_36p	silent	SNP	0.987	T
EFCAB2	84288	genome.wustl.edu	37	1	245286975	245286975	+	3'UTR	SNP	A	A	G	rs146046386	byFrequency	TCGA-29-1778-01A-01W-0639-09	TCGA-29-1778-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5f8f37b5-2193-453e-bba2-665c56c297ae	fa01b291-78e0-4b7f-97e6-0a2dea8296bd	g.chr1:245286975A>G	ENST00000366522.2	+	0	2676							Q5VUJ9	EFCB2_HUMAN	EF-hand calcium binding domain 2								calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|stomach(2)	13	all_cancers(71;2.93e-06)|all_epithelial(71;2.13e-05)|all_lung(81;0.0337)|Lung NSC(105;0.0472)|Ovarian(71;0.0584)|Breast(184;0.0716)|all_neural(11;0.0982)		OV - Ovarian serous cystadenocarcinoma(106;0.015)			GGGAAACCAGATCAGAACCTG	0.458													A|||	19	0.00379393	0.0008	0.0072	5008	,	,		18992	0.0		0.0089	False		,,,				2504	0.0041															0			1																																								243353598	SO:0001624	3_prime_UTR_variant	0			AB209286	CCDS31082.1, CCDS44341.1	1q44	2014-07-18			ENSG00000203666	ENSG00000203666		"""EF-hand domain containing"""	28166	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 8"""					23427265	Standard	NM_032328		Approved	MGC12458, DRC8, CFAP200	uc001ibc.2	Q5VUJ9	OTTHUMG00000040474	ENST00000366522.2:c.*1725A>G	1.37:g.245286975A>G			243353598	B4DZE9|Q59G23|Q9BS36	RNA	SNP	-	NULL	ENST00000366522.2	37	NULL		1																																																																																			-	-		0.458	EFCAB2-001	KNOWN	basic	protein_coding	LOC100128825	protein_coding	OTTHUMT00000097407.2	A			243353598	-1	pseudogene	XR_037654	genbank	human	model	54_36p	rna	SNP	0.261	G
