#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABHD10	55347	genome.wustl.edu	37	3	111710568	111710568	+	Nonstop_Mutation	SNP	G	G	T			TCGA-AR-A1AM-01A-41D-A228-09	TCGA-AR-A1AM-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	012e1ff3-7ed3-4dee-ae3d-44a8050d774e	23e838ec-7c27-4869-975d-e3b6f25ace19	g.chr3:111710568G>T	ENST00000273359.3	+	5	948	c.921G>T	c.(919-921)taG>taT	p.*307Y	ABHD10_ENST00000534857.1_Nonstop_Mutation_p.*150Y	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	0					glucuronoside catabolic process (GO:0019391)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			large_intestine(2)|lung(7)|skin(1)	10						TAGTTAACTAGTATCACATGT	0.343																																						dbGAP											0													48.0	43.0	44.0					3																	111710568		2203	4300	6503	-	-	-	SO:0001578	stop_lost	0			AL713726	CCDS2963.1, CCDS63718.1	3q13.2	2012-03-26			ENSG00000144827	ENSG00000144827		"""Abhydrolase domain containing"""	25656	protein-coding gene	gene with protein product						22294686	Standard	NM_018394		Approved	FLJ11342	uc003dyk.5	Q9NUJ1	OTTHUMG00000159280	ENST00000273359.3:c.921G>T	3.37:g.111710568G>T	ENSP00000273359:p.*307Tyrext*10		B7Z6A8|C9IZX5|D3DN63|Q8TCF9	Nonstop_Mutation	SNP	pfam_AB_hydrolase_1,pfam_Peptidase_S9	p.*307Y	ENST00000273359.3	37	c.921	CCDS2963.1	3	.	.	.	.	.	.	.	.	.	.	G	5.675	0.309153	0.10733	.	.	ENSG00000144827	ENST00000534857;ENST00000273359	.	.	.	5.93	3.84	0.44239	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0329	0.47783	0.1731:0.0:0.8269:0.0	.	.	.	.	Y	150;307	.	.	X	+	3	2	ABHD10	113193258	0.942000	0.31987	0.643000	0.29450	0.315000	0.28087	1.448000	0.35112	1.530000	0.49136	-0.229000	0.12294	TAG	ABHD10	-	NULL	ENSG00000144827		0.343	ABHD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD10	HGNC	protein_coding	OTTHUMT00000354326.1	30	0.00	0	G	NM_018394		111710568	111710568	+1	no_errors	ENST00000273359	ensembl	human	known	69_37n	nonstop	21	12.50	3	SNP	0.027	T
ARMC1	55156	genome.wustl.edu	37	8	66539544	66539544	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A1AM-01A-41D-A228-09	TCGA-AR-A1AM-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	012e1ff3-7ed3-4dee-ae3d-44a8050d774e	23e838ec-7c27-4869-975d-e3b6f25ace19	g.chr8:66539544G>T	ENST00000276569.3	-	2	334	c.90C>A	c.(88-90)aaC>aaA	p.N30K	ARMC1_ENST00000458464.2_5'UTR|ARMC1_ENST00000523384.1_5'UTR	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	30					metal ion transport (GO:0030001)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			TGGCTCTTCTGTTTAACGGAT	0.483																																						dbGAP											0													161.0	151.0	154.0					8																	66539544		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC011607	CCDS6181.1, CCDS69490.1	8q12.3	2013-02-14			ENSG00000104442	ENSG00000104442		"""Armadillo repeat containing"""	17684	protein-coding gene	gene with protein product							Standard	XM_005251264		Approved	FLJ10511, Arcp	uc003xvl.3	Q9NVT9	OTTHUMG00000164374	ENST00000276569.3:c.90C>A	8.37:g.66539544G>T	ENSP00000276569:p.Asn30Lys		B4E2W7|Q9H018|Q9H820	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_HeavyMe-assoc_HMA,pirsf_UCP013899_metal-bd	p.N30K	ENST00000276569.3	37	c.90	CCDS6181.1	8	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696523	0.48202	.	.	ENSG00000104442	ENST00000276569;ENST00000518908;ENST00000519352	T;T;T	0.72615	-0.67;-0.67;-0.67	5.61	-1.96	0.07525	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63522	0.2518	M	0.62723	1.935	0.80722	D	1	P	0.41624	0.757	B	0.36719	0.231	T	0.67329	-0.5698	10	0.52906	T	0.07	-16.5621	15.5965	0.76587	0.2147:0.0:0.7853:0.0	.	30	Q9NVT9	ARMC1_HUMAN	K	30	ENSP00000276569:N30K;ENSP00000429191:N30K;ENSP00000429715:N30K	ENSP00000276569:N30K	N	-	3	2	ARMC1	66702098	0.729000	0.28090	0.985000	0.45067	0.990000	0.78478	-0.159000	0.10056	-0.245000	0.09625	-0.345000	0.07892	AAC	ARMC1	-	pfam_Armadillo,superfamily_ARM-type_fold,pirsf_UCP013899_metal-bd	ENSG00000104442		0.483	ARMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC1	HGNC	protein_coding	OTTHUMT00000378480.1	43	0.00	0	G	NM_018120		66539544	66539544	-1	no_errors	ENST00000276569	ensembl	human	known	69_37n	missense	19	13.64	3	SNP	0.993	T
ATP1A2	477	genome.wustl.edu	37	1	160098479	160098479	+	Missense_Mutation	SNP	A	A	G			TCGA-AR-A1AM-01A-41D-A228-09	TCGA-AR-A1AM-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	012e1ff3-7ed3-4dee-ae3d-44a8050d774e	23e838ec-7c27-4869-975d-e3b6f25ace19	g.chr1:160098479A>G	ENST00000361216.3	+	9	1144	c.1055A>G	c.(1054-1056)aAg>aGg	p.K352R	ATP1A2_ENST00000392233.3_Missense_Mutation_p.K352R	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	352					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			ATGGCACGGAAGAACTGCCTG	0.577																																						dbGAP											0													104.0	94.0	97.0					1																	160098479		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1055A>G	1.37:g.160098479A>G	ENSP00000354490:p.Lys352Arg		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.K352R	ENST00000361216.3	37	c.1055	CCDS1196.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.5|27.5	4.835785|4.835785	0.91117|0.91117	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000538123;ENST00000361216;ENST00000392233;ENST00000435866|ENST00000447527	D;D|.	0.91351|.	-2.83;-2.83|.	4.77|4.77	4.77|4.77	0.60923|0.60923	ATPase, P-type, ATPase-associated domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.36744|0.36744	0.0978|0.0978	N|N	0.21373|0.21373	0.66|0.66	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D|.	0.76494|.	0.999;0.999;0.999;0.999|.	D;D;D;D|.	0.91635|.	0.999;0.999;0.998;0.999|.	T|T	0.29912|0.29912	-0.9996|-0.9996	10|5	0.66056|.	D|.	0.02|.	.|.	13.5914|13.5914	0.61961|0.61961	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	197;352;252;352|.	B4DHD7;B1AKY9;F5GXJ7;P50993|.	.;.;.;AT1A2_HUMAN|.	R|G	197;352;352;55|63	ENSP00000354490:K352R;ENSP00000376066:K352R|.	ENSP00000354490:K352R|.	K|R	+|+	2|1	0|2	ATP1A2|ATP1A2	158365103|158365103	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.963000|0.963000	0.63663|0.63663	9.307000|9.307000	0.96226|0.96226	1.912000|1.912000	0.55364|0.55364	0.459000|0.459000	0.35465|0.35465	AAG|AGA	ATP1A2	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000018625		0.577	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A2	HGNC	protein_coding	OTTHUMT00000060642.2	41	0.00	0	A	NM_000702		160098479	160098479	+1	no_errors	ENST00000361216	ensembl	human	known	69_37n	missense	32	17.95	7	SNP	1.000	G
ASPM	259266	genome.wustl.edu	37	1	197091059	197091059	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A1AM-01A-41D-A228-09	TCGA-AR-A1AM-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	012e1ff3-7ed3-4dee-ae3d-44a8050d774e	23e838ec-7c27-4869-975d-e3b6f25ace19	g.chr1:197091059G>C	ENST00000367409.4	-	16	4112	c.3856C>G	c.(3856-3858)Ctc>Gtc	p.L1286V	ASPM_ENST00000367408.1_Missense_Mutation_p.L536V|ASPM_ENST00000294732.7_Missense_Mutation_p.L1286V	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1286					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGGCGTTTGAGATCTGTTTTT	0.308																																						dbGAP											0													121.0	120.0	121.0					1																	197091059		2203	4299	6502	-	-	-	SO:0001583	missense	0			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3856C>G	1.37:g.197091059G>C	ENSP00000356379:p.Leu1286Val		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.L1286V	ENST00000367409.4	37	c.3856	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.467736	0.26335	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	D;D;D	0.83075	-1.68;-1.68;-1.68	5.84	3.94	0.45596	.	0.296843	0.24209	N	0.040548	D	0.83571	0.5283	M	0.62016	1.91	0.09310	N	1	P;P	0.50066	0.78;0.931	B;P	0.52031	0.197;0.688	T	0.73889	-0.3840	10	0.33141	T	0.24	.	8.7218	0.34445	0.0673:0.0:0.56:0.3726	.	1286;1286	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	V	1286;1286;536	ENSP00000356379:L1286V;ENSP00000294732:L1286V;ENSP00000356378:L536V	ENSP00000294732:L1286V	L	-	1	0	ASPM	195357682	0.894000	0.30519	0.017000	0.16124	0.942000	0.58702	1.480000	0.35464	1.458000	0.47871	0.655000	0.94253	CTC	ASPM	-	superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS	ENSG00000066279		0.308	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	59	0.00	0	G	NM_018136		197091059	197091059	-1	no_errors	ENST00000367409	ensembl	human	known	69_37n	missense	41	45.33	34	SNP	0.004	C
CECR6	27439	genome.wustl.edu	37	22	17601391	17601393	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-AR-A1AM-01A-41D-A228-09	TCGA-AR-A1AM-10A-01D-A22A-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	012e1ff3-7ed3-4dee-ae3d-44a8050d774e	23e838ec-7c27-4869-975d-e3b6f25ace19	g.chr22:17601391_17601393delCAG	ENST00000331437.3	-	1	750_752	c.625_627delCTG	c.(625-627)ctgdel	p.L209del	AC006946.15_ENST00000441544.1_5'Flank|CECR6_ENST00000399875.1_Intron	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	209										haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		CGCCCTGCGCCAGCAGCAGCACC	0.734											OREG0006622	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=CECR6|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF307451	CCDS13740.1, CCDS54494.1	22q11.2	2008-06-12			ENSG00000183307	ENSG00000183307			1844	protein-coding gene	gene with protein product						11381032	Standard	NM_031890		Approved		uc002zmb.2	Q9BXQ6	OTTHUMG00000030471	ENST00000331437.3:c.625_627delCTG	22.37:g.17601397_17601399delCAG	ENSP00000329318:p.Leu209del	719	A8MYY1	In_Frame_Del	DEL	NULL	p.L209in_frame_del	ENST00000331437.3	37	c.627_625	CCDS13740.1	22																																																																																			CECR6	-	NULL	ENSG00000183307		0.734	CECR6-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	CECR6	HGNC	protein_coding	OTTHUMT00000075359.4	24	0.00	0	CAG	NM_031890		17601391	17601393	-1	no_errors	ENST00000331437	ensembl	human	known	69_37n	in_frame_del	5	28.57	2	DEL	1.000:1.000:0.997	-
DCAF4L1	285429	genome.wustl.edu	37	4	41984628	41984628	+	Silent	SNP	G	G	A			TCGA-AR-A1AM-01A-41D-A228-09	TCGA-AR-A1AM-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	012e1ff3-7ed3-4dee-ae3d-44a8050d774e	23e838ec-7c27-4869-975d-e3b6f25ace19	g.chr4:41984628G>A	ENST00000333141.5	+	1	916	c.819G>A	c.(817-819)gtG>gtA	p.V273V		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	273										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						ACTCAGCAGTGACCTCTGTGC	0.522																																						dbGAP											0													121.0	110.0	114.0					4																	41984628		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"""WD repeat domain containing"""	27723	protein-coding gene	gene with protein product			"""WD repeat domain 21B"""	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.819G>A	4.37:g.41984628G>A			B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V273	ENST00000333141.5	37	c.819	CCDS33978.1	4																																																																																			DCAF4L1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000182308		0.522	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF4L1	HGNC	protein_coding	OTTHUMT00000360958.1	21	0.00	0	G	NM_001029955		41984628	41984628	+1	no_errors	ENST00000333141	ensembl	human	known	69_37n	silent	33	17.50	7	SNP	1.000	A
MICU3	286097	genome.wustl.edu	37	8	16944534	16944534	+	Missense_Mutation	SNP	G	G	T	rs370647732		TCGA-AR-A1AM-01A-41D-A228-09	TCGA-AR-A1AM-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	012e1ff3-7ed3-4dee-ae3d-44a8050d774e	23e838ec-7c27-4869-975d-e3b6f25ace19	g.chr8:16944534G>T	ENST00000318063.5	+	7	881	c.839G>T	c.(838-840)cGt>cTt	p.R280L		NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3	280						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)										GAAGAAAAGCGTGCAATGCTG	0.294																																						dbGAP											0													97.0	106.0	103.0					8																	16944534		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"""EF-hand domain containing"""	27820	protein-coding gene	gene with protein product		610633	"""EF hand domain family A2"", ""EF-hand domain family, member A2"""	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.839G>T	8.37:g.16944534G>T	ENSP00000321455:p.Arg280Leu		Q8IYZ3	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.R280L	ENST00000318063.5	37	c.839	CCDS5999.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.21|13.21	2.167940|2.167940	0.38315|0.38315	.|.	.|.	ENSG00000155970|ENSG00000155970	ENST00000318063|ENST00000519044	T|.	0.46819|.	0.86|.	5.46|5.46	4.58|4.58	0.56647|0.56647	.|.	0.290082|.	0.35525|.	N|.	0.003146|.	T|T	0.52805|0.52805	0.1757|0.1757	L|L	0.29908|0.29908	0.895|0.895	0.44402|0.44402	D|D	0.99731|0.99731	B|.	0.13145|.	0.007|.	B|.	0.12156|.	0.007|.	T|T	0.48822|0.48822	-0.9001|-0.9001	10|5	0.41790|.	T|.	0.15|.	-10.515|-10.515	13.392|13.392	0.60829|0.60829	0.0773:0.0:0.9227:0.0|0.0773:0.0:0.9227:0.0	.|.	280|.	Q86XE3|.	EFHA2_HUMAN|.	L|L	280|138	ENSP00000321455:R280L|.	ENSP00000321455:R280L|.	R|V	+|+	2|1	0|0	EFHA2|EFHA2	16988905|16988905	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.909000|0.909000	0.53808|0.53808	2.030000|2.030000	0.41108|0.41108	1.445000|1.445000	0.47624|0.47624	0.585000|0.585000	0.79938|0.79938	CGT|GTG	EFHA2	-	NULL	ENSG00000155970		0.294	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFHA2	HGNC	protein_coding	OTTHUMT00000214031.1	42	0.00	0	G	NM_181723		16944534	16944534	+1	no_errors	ENST00000318063	ensembl	human	known	69_37n	missense	21	16.00	4	SNP	0.998	T
DOCK5	80005	genome.wustl.edu	37	8	25101241	25101241	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A1AM-01A-41D-A228-09	TCGA-AR-A1AM-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	012e1ff3-7ed3-4dee-ae3d-44a8050d774e	23e838ec-7c27-4869-975d-e3b6f25ace19	g.chr8:25101241G>T	ENST00000276440.7	+	2	139	c.95G>T	c.(94-96)gGt>gTt	p.G32V	DOCK5_ENST00000410074.1_Missense_Mutation_p.G32V|DOCK5_ENST00000481100.1_Missense_Mutation_p.G32V	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	32	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TTGCAGATCGGTGACACAGTT	0.433																																					Pancreas(145;34 1887 3271 10937 30165)	dbGAP											0													118.0	93.0	102.0					8																	25101241		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.95G>T	8.37:g.25101241G>T	ENSP00000276440:p.Gly32Val		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	pfam_DOCK,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.G32V	ENST00000276440.7	37	c.95	CCDS6047.1	8	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449598	0.84101	.	.	ENSG00000147459	ENST00000410074;ENST00000481100;ENST00000276440	T;T;T	0.72615	-0.67;-0.67;-0.67	6.16	6.16	0.99307	Src homology-3 domain (4);	0.120847	0.56097	D	0.000030	D	0.89217	0.6652	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.91400	0.5142	10	0.87932	D	0	.	17.7766	0.88510	0.0:0.0:1.0:0.0	.	32	Q9H7D0	DOCK5_HUMAN	V	32	ENSP00000387036:G32V;ENSP00000429737:G32V;ENSP00000276440:G32V	ENSP00000276440:G32V	G	+	2	0	DOCK5	25157158	1.000000	0.71417	0.911000	0.35937	0.843000	0.47879	6.561000	0.73955	2.937000	0.99478	0.650000	0.86243	GGT	DOCK5	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000147459		0.433	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK5	HGNC	protein_coding	OTTHUMT00000254955.2	45	0.00	0	G	NM_024940		25101241	25101241	+1	no_errors	ENST00000276440	ensembl	human	known	69_37n	missense	32	11.11	4	SNP	0.990	T
FBXO11	80204	genome.wustl.edu	37	2	48050473	48050473	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A1AM-01A-41D-A228-09	TCGA-AR-A1AM-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	012e1ff3-7ed3-4dee-ae3d-44a8050d774e	23e838ec-7c27-4869-975d-e3b6f25ace19	g.chr2:48050473G>T	ENST00000403359.3	-	12	1497	c.1425C>A	c.(1423-1425)caC>caA	p.H475Q	FBXO11_ENST00000316377.4_Missense_Mutation_p.H391Q|FBXO11_ENST00000402508.1_Missense_Mutation_p.H391Q|FBXO11_ENST00000434523.2_5'UTR	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	475					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCCTATTTCTGTGTATATTGC	0.348			"""Mis, F, D"""		DLBCL																																	dbGAP		Rec	yes		2	2p16.3	80204	F-box protein 11		L	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											63.0	59.0	60.0					2																	48050473		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.1425C>A	2.37:g.48050473G>T	ENSP00000384823:p.His475Gln		A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	pfam_Znf_N-recognin,pfam_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom_cyclin-like,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2	p.H475Q	ENST00000403359.3	37	c.1425	CCDS54357.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.075390|4.075390	0.76415|0.76415	.|.	.|.	ENSG00000138081|ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377|ENST00000493962	T;T;T|.	0.80214|.	-1.35;0.95;-1.35|.	5.87|5.87	5.87|5.87	0.94306|0.94306	Pectin lyase fold/virulence factor (1);Carbohydrate-binding/sugar hydrolysis domain (1);F-box domain, Skp2-like (1);Pectin lyase fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78432|0.78432	0.4282|0.4282	M|M	0.84326|0.84326	2.69|2.69	0.80722|0.80722	D|D	1|1	P|.	0.44877|.	0.845|.	P|.	0.59288|.	0.855|.	T|T	0.79438|0.79438	-0.1803|-0.1803	10|5	0.66056|.	D|.	0.02|.	-18.092|-18.092	15.3507|15.3507	0.74384|0.74384	0.0685:0.0:0.9315:0.0|0.0685:0.0:0.9315:0.0	.|.	475|.	Q86XK2|.	FBX11_HUMAN|.	Q|K	391;475;391|267	ENSP00000385398:H391Q;ENSP00000384823:H475Q;ENSP00000323822:H391Q|.	ENSP00000323822:H391Q|.	H|Q	-|-	3|1	2|0	FBXO11|FBXO11	47903977|47903977	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.253000|1.253000	0.32886|0.32886	2.775000|2.775000	0.95449|0.95449	0.650000|0.650000	0.86243|0.86243	CAC|CAG	FBXO11	-	superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1	ENSG00000138081		0.348	FBXO11-001	KNOWN	basic|CCDS	protein_coding	FBXO11	HGNC	protein_coding	OTTHUMT00000251181.3	25	0.00	0	G	NM_012167, NM_018693, NM_025133		48050473	48050473	-1	no_errors	ENST00000403359	ensembl	human	known	69_37n	missense	17	15.00	3	SNP	1.000	T
GUCY2F	2986	genome.wustl.edu	37	X	108718457	108718457	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A1AM-01A-41D-A228-09	TCGA-AR-A1AM-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	012e1ff3-7ed3-4dee-ae3d-44a8050d774e	23e838ec-7c27-4869-975d-e3b6f25ace19	g.chrX:108718457G>T	ENST00000218006.2	-	2	1000	c.709C>A	c.(709-711)Cac>Aac	p.H237N		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	237					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TCTGCCTGGTGAATCCTCTGG	0.517											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													73.0	67.0	69.0					X																	108718457		2203	4300	6503	-	-	-	SO:0001583	missense	0			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.709C>A	X.37:g.108718457G>T	ENSP00000218006:p.His237Asn	1414	Q9UJF1	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.H237N	ENST00000218006.2	37	c.709	CCDS14545.1	X	.	.	.	.	.	.	.	.	.	.	G	12.52	1.963076	0.34659	.	.	ENSG00000101890	ENST00000218006	D	0.82433	-1.61	4.79	3.93	0.45458	Extracellular ligand-binding receptor (1);	0.515452	0.19953	N	0.102391	T	0.73016	0.3533	L	0.34521	1.04	0.22819	N	0.998694	B	0.02656	0.0	B	0.04013	0.001	T	0.60255	-0.7299	10	0.33141	T	0.24	.	10.0577	0.42255	0.101:0.0:0.899:0.0	.	237	P51841	GUC2F_HUMAN	N	237	ENSP00000218006:H237N	ENSP00000218006:H237N	H	-	1	0	GUCY2F	108605113	0.970000	0.33590	0.857000	0.33713	0.791000	0.44710	1.601000	0.36773	1.145000	0.42336	0.594000	0.82650	CAC	GUCY2F	-	pfam_ANF_lig-bd_rcpt	ENSG00000101890		0.517	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2F	HGNC	protein_coding	OTTHUMT00000057884.1	92	0.00	0	G	NM_001522		108718457	108718457	-1	no_errors	ENST00000218006	ensembl	human	known	69_37n	missense	66	14.29	11	SNP	0.920	T
HSP90AB1	3326	genome.wustl.edu	37	6	44221293	44221293	+	Silent	SNP	C	C	T	rs147025760	byFrequency	TCGA-AR-A1AM-01A-41D-A228-09	TCGA-AR-A1AM-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	012e1ff3-7ed3-4dee-ae3d-44a8050d774e	23e838ec-7c27-4869-975d-e3b6f25ace19	g.chr6:44221293C>T	ENST00000371554.1	+	12	2347	c.2133C>T	c.(2131-2133)ctC>ctT	p.L711L	HSP90AB1_ENST00000353801.3_Silent_p.L711L|SLC35B2_ENST00000495706.1_5'Flank|HSP90AB1_ENST00000371646.5_Silent_p.L711L|MIR4647_ENST00000583964.1_RNA			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	711					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCCCCCCTCTCGAGGGCGATG	0.493											OREG0017471	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													78.0	80.0	79.0					6																	44221293		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.2133C>T	6.37:g.44221293C>T		922	B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Silent	SNP	pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pirsf_Hsp90,prints_Hsp90_N	p.L711	ENST00000371554.1	37	c.2133	CCDS4909.1	6																																																																																			HSP90AB1	-	pfam_Hsp90,pirsf_Hsp90	ENSG00000096384		0.493	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HSP90AB1	HGNC	protein_coding	OTTHUMT00000040730.1	35	0.00	0	C	NM_007355		44221293	44221293	+1	no_errors	ENST00000353801	ensembl	human	known	69_37n	silent	35	12.50	5	SNP	0.645	T
IGDCC3	9543	genome.wustl.edu	37	15	65623553	65623553	+	Splice_Site	SNP	C	C	T			TCGA-AR-A1AM-01A-41D-A228-09	TCGA-AR-A1AM-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	012e1ff3-7ed3-4dee-ae3d-44a8050d774e	23e838ec-7c27-4869-975d-e3b6f25ace19	g.chr15:65623553C>T	ENST00000327987.4	-	9	1648		c.e9-1		IGDCC3_ENST00000559231.1_Splice_Site	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3						neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCCGGTGGGTCTGGAGAGGCA	0.627											OREG0007241	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=PUNC|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										dbGAP											0													102.0	103.0	102.0					15																	65623553		2201	4299	6500	-	-	-	SO:0001630	splice_region_variant	0			AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.1397-1G>A	15.37:g.65623553C>T		1085	O95215	Splice_Site	SNP	-	e9-1	ENST00000327987.4	37	c.1397-1	CCDS10205.1	15	.	.	.	.	.	.	.	.	.	.	C	15.79	2.936968	0.52972	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	.	.	.	5.04	4.12	0.48240	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2667	0.60137	0.0:0.9233:0.0:0.0767	.	.	.	.	.	-1	.	.	.	-	.	.	IGDCC3	63410606	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	7.792000	0.85828	1.109000	0.41680	0.561000	0.74099	.	IGDCC3	-	-	ENSG00000174498		0.627	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGDCC3	HGNC	protein_coding	OTTHUMT00000256826.1	19	0.00	0	C	NM_004884	Intron	65623553	65623553	-1	no_errors	ENST00000327987	ensembl	human	known	69_37n	splice_site	14	36.36	8	SNP	1.000	T
JPH3	57338	genome.wustl.edu	37	16	87734456	87734456	+	IGR	SNP	G	G	C	rs112536563		TCGA-AR-A1AM-01A-41D-A228-09	TCGA-AR-A1AM-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	012e1ff3-7ed3-4dee-ae3d-44a8050d774e	23e838ec-7c27-4869-975d-e3b6f25ace19	g.chr16:87734456G>C	ENST00000284262.2	+	0	3985				FLJ00104_ENST00000446344.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3						calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		ggagggaggaggttggagggt	0.667																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0			AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656		16.37:g.87734456G>C			D3DUN2|Q8N471|Q9HDC3|Q9HDC4	RNA	SNP	-	NULL	ENST00000284262.2	37	NULL	CCDS10962.1	16																																																																																			KLHDC4	-	-	ENSG00000104731		0.667	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC4	HGNC	protein_coding	OTTHUMT00000269108.2	10	0.00	0	G			87734456	87734456	-1	no_errors	ENST00000568346	ensembl	human	known	69_37n	rna	4	55.56	5	SNP	0.015	C
MC1R	4157	genome.wustl.edu	37	16	89981024	89981025	+	5'UTR	DEL	CC	CC	-	rs199884917		TCGA-AR-A1AM-01A-41D-A228-09	TCGA-AR-A1AM-10A-01D-A22A-09	CC	CC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	012e1ff3-7ed3-4dee-ae3d-44a8050d774e	23e838ec-7c27-4869-975d-e3b6f25ace19	g.chr16:89981024_89981025delCC	ENST00000555427.1	+	0	1199_1200				RP11-566K11.7_ENST00000570217.1_RNA			Q01726	MSHR_HUMAN	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)						G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intracellular signal transduction (GO:0035556)|melanin biosynthetic process (GO:0042438)|multicellular organismal development (GO:0007275)|negative regulation of tumor necrosis factor production (GO:0032720)|pigmentation (GO:0043473)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sensory perception of pain (GO:0019233)|UV protection (GO:0009650)|UV-damage excision repair (GO:0070914)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		tgtgtgtgtgcctgtgtgtggg	0.564									Melanoma, Familial Clustering of																													dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0	Familial Cancer Database			CCDS56011.1	16q24.3	2012-10-05			ENSG00000258839	ENSG00000258839		"""GPCR / Class A : Melanocortin receptors"""	6929	protein-coding gene	gene with protein product		155555				8458079	Standard	NM_002386		Approved	MSH-R		Q01726		ENST00000555427.1:c.-1104CC>-	16.37:g.89981024_89981025delCC			Q66K38|Q6UR93|Q8WWX6|Q8WWX7|Q96I33|Q96RU4|Q9UBF7|Q9UN58|Q9UN59|Q9UN60|Q9UN61|Q9UN62	RNA	DEL	-	NULL	ENST00000555427.1	37	NULL		16																																																																																			MC1R	-	-	ENSG00000258839		0.564	MC1R-002	PUTATIVE	basic	protein_coding	MC1R	HGNC	protein_coding	OTTHUMT00000412001.2	8	0.00	0	CC	NM_002386		89981024	89981025	+1	no_errors	ENST00000539976	ensembl	human	known	69_37n	rna	4	33.33	2	DEL	0.902:0.902	-
MDN1	23195	genome.wustl.edu	37	6	90380734	90380734	+	Silent	SNP	G	G	T			TCGA-AR-A1AM-01A-41D-A228-09	TCGA-AR-A1AM-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	012e1ff3-7ed3-4dee-ae3d-44a8050d774e	23e838ec-7c27-4869-975d-e3b6f25ace19	g.chr6:90380734G>T	ENST00000369393.3	-	83	13975	c.13860C>A	c.(13858-13860)ctC>ctA	p.L4620L	MDN1_ENST00000428876.1_Silent_p.L4620L|MDN1_ENST00000468568.1_5'UTR|RP1-122O8.7_ENST00000438877.1_RNA			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4620					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGAAGAGGACGAGGTCTGAGT	0.522																																						dbGAP											0													87.0	78.0	81.0					6																	90380734		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.13860C>A	6.37:g.90380734G>T			O15019|Q5T794	Silent	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.L4620	ENST00000369393.3	37	c.13860	CCDS5024.1	6																																																																																			MDN1	-	superfamily_ARM-type_fold,pirsf_Midasin	ENSG00000112159		0.522	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	27	0.00	0	G			90380734	90380734	-1	no_errors	ENST00000369393	ensembl	human	known	69_37n	silent	32	11.11	4	SNP	0.776	T
MKNK1	8569	genome.wustl.edu	37	1	47037769	47037769	+	Silent	SNP	G	G	A	rs549086017		TCGA-AR-A1AM-01A-41D-A228-09	TCGA-AR-A1AM-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	012e1ff3-7ed3-4dee-ae3d-44a8050d774e	23e838ec-7c27-4869-975d-e3b6f25ace19	g.chr1:47037769G>A	ENST00000371946.4	-	7	622	c.459C>T	c.(457-459)gaC>gaT	p.D153D	MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000371944.4_Silent_p.D58D|MKNK1_ENST00000341183.5_Silent_p.D153D|MKNK1_ENST00000428112.2_Silent_p.D153D|MKNK1_ENST00000371945.4_Silent_p.D153D	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	153	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast growth factor receptor signaling pathway (GO:0008543)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|response to salt stress (GO:0009651)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					CAGCAGCAACGTCCCGCACCA	0.582																																						dbGAP											0													160.0	130.0	140.0					1																	47037769		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB000409	CCDS538.1, CCDS30705.1, CCDS44134.1	1p33	2008-02-05			ENSG00000079277	ENSG00000079277			7110	protein-coding gene	gene with protein product		606724				9155018	Standard	NM_003684		Approved	MNK1	uc001cqb.4	Q9BUB5	OTTHUMG00000007983	ENST00000371946.4:c.459C>T	1.37:g.47037769G>A			D3DQ20|D3DQ21|O00312|Q5TC06|Q5TC07|Q6V0N6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D153	ENST00000371946.4	37	c.459	CCDS538.1	1																																																																																			MKNK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000079277		0.582	MKNK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKNK1	HGNC	protein_coding	OTTHUMT00000021897.2	32	0.00	0	G	NM_003684		47037769	47037769	-1	no_errors	ENST00000371946	ensembl	human	known	69_37n	silent	32	20.00	8	SNP	1.000	A
MUM1L1	139221	genome.wustl.edu	37	X	105450668	105450668	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AR-A1AM-01A-41D-A228-09	TCGA-AR-A1AM-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	012e1ff3-7ed3-4dee-ae3d-44a8050d774e	23e838ec-7c27-4869-975d-e3b6f25ace19	g.chrX:105450668C>T	ENST00000357175.2	+	4	1892	c.1243C>T	c.(1243-1245)Cga>Tga	p.R415*	MUM1L1_ENST00000337685.2_Nonsense_Mutation_p.R415*|MUM1L1_ENST00000372552.1_Nonsense_Mutation_p.R415*	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	415	PWWP.					extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AAGTATCAGACGAAAAGAGAG	0.328																																						dbGAP											0													39.0	34.0	35.0					X																	105450668		1832	4074	5906	-	-	-	SO:0001587	stop_gained	0			AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1243C>T	X.37:g.105450668C>T	ENSP00000349699:p.Arg415*		D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Nonsense_Mutation	SNP	superfamily_PyrdxlP-dep_Trfase_major_dom	p.R415*	ENST00000357175.2	37	c.1243	CCDS55469.1	X	.	.	.	.	.	.	.	.	.	.	C	41	8.751777	0.98939	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	.	.	.	4.31	1.46	0.22682	.	0.000000	0.42172	D	0.000758	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-48.0889	9.3648	0.38217	0.5684:0.4315:0.0:0.0	.	.	.	.	X	415	.	ENSP00000338641:R415X	R	+	1	2	MUM1L1	105337324	0.991000	0.36638	0.992000	0.48379	0.779000	0.44077	0.249000	0.18216	0.163000	0.19507	-0.353000	0.07706	CGA	MUM1L1	-	NULL	ENSG00000157502		0.328	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MUM1L1	HGNC	protein_coding	OTTHUMT00000057795.1	45	0.00	0	C	NM_152423		105450668	105450668	+1	no_errors	ENST00000337685	ensembl	human	known	69_37n	nonsense	27	22.86	8	SNP	0.990	T
NAV1	89796	genome.wustl.edu	37	1	201709164	201709164	+	Intron	SNP	C	C	T			TCGA-AR-A1AM-01A-41D-A228-09	TCGA-AR-A1AM-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	012e1ff3-7ed3-4dee-ae3d-44a8050d774e	23e838ec-7c27-4869-975d-e3b6f25ace19	g.chr1:201709164C>T	ENST00000367296.4	+	3	1646				NAV1_ENST00000367297.4_Intron|IPO9-AS1_ENST00000413035.1_RNA|RP11-90L20.2_ENST00000429443.1_RNA|NAV1_ENST00000295624.6_Intron|NAV1_ENST00000367302.1_Intron|NAV1_ENST00000367300.3_Intron|NAV1_ENST00000367295.1_Missense_Mutation_p.P5S	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1						microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GCTTCATCTGCCCCTGCCCAG	0.687																																						dbGAP											0													27.0	39.0	36.0					1																	201709164		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.1226+21281C>T	1.37:g.201709164C>T			A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	smart_AAA+_ATPase	p.P5S	ENST00000367296.4	37	c.13	CCDS1414.2	1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.038107	0.54896	.	.	ENSG00000134369	ENST00000367295	T	0.06142	3.34	4.37	3.44	0.39384	.	.	.	.	.	T	0.06962	0.0177	.	.	.	0.80722	D	1	B	0.15473	0.013	B	0.19391	0.025	T	0.15009	-1.0452	8	0.87932	D	0	.	9.845	0.41021	0.0:0.7636:0.2364:0.0	.	5	Q8NEY1-5	.	S	5	ENSP00000356264:P5S	ENSP00000356264:P5S	P	+	1	0	NAV1	199975787	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.836000	0.39191	1.012000	0.39366	0.586000	0.80456	CCC	NAV1	-	NULL	ENSG00000134369		0.687	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1	44	0.00	0	C	NM_020443		201709164	201709164	+1	no_errors	ENST00000367295	ensembl	human	novel	69_37n	missense	21	50.00	21	SNP	1.000	T
OR1L6	392390	genome.wustl.edu	37	9	125512365	125512365	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A1AM-01A-41D-A228-09	TCGA-AR-A1AM-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	012e1ff3-7ed3-4dee-ae3d-44a8050d774e	23e838ec-7c27-4869-975d-e3b6f25ace19	g.chr9:125512365C>G	ENST00000373684.1	+	1	347	c.347C>G	c.(346-348)cCt>cGt	p.P116R	OR1L6_ENST00000304720.2_Missense_Mutation_p.P80R			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						GTCATAGTGCCTAAGATGCTG	0.468																																						dbGAP											0													101.0	96.0	98.0					9																	125512365		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS35130.1, CCDS35130.2	9q33.2	2013-09-20			ENSG00000171459	ENSG00000171459		"""GPCR / Class A : Olfactory receptors"""	8218	protein-coding gene	gene with protein product				OR1L7			Standard	NM_001004453		Approved		uc022bna.1	Q8NGR2	OTTHUMG00000020621	ENST00000373684.1:c.347C>G	9.37:g.125512365C>G	ENSP00000362788:p.Pro116Arg		Q6IFM8|Q96R80	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.P116R	ENST00000373684.1	37	c.347		9	.	.	.	.	.	.	.	.	.	.	.	19.16	3.773310	0.69992	.	.	ENSG00000171459	ENST00000373684;ENST00000304720	T;T	0.01871	4.59;4.59	4.35	4.35	0.52113	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000082	T	0.17280	0.0415	M	0.92026	3.265	0.54753	D	0.999984	D	0.89917	1.0	D	0.91635	0.999	T	0.02519	-1.1147	10	0.87932	D	0	-33.3998	16.1402	0.81517	0.0:1.0:0.0:0.0	.	116	Q8NGR2	OR1L6_HUMAN	R	116;80	ENSP00000362788:P116R;ENSP00000304235:P80R	ENSP00000304235:P80R	P	+	2	0	OR1L6	124552186	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	5.641000	0.67881	2.407000	0.81776	0.655000	0.94253	CCT	OR1L6	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000171459		0.468	OR1L6-201	KNOWN	basic	protein_coding	OR1L6	HGNC	protein_coding		73	0.00	0	C			125512365	125512365	+1	no_errors	ENST00000373684	ensembl	human	known	69_37n	missense	46	13.21	7	SNP	1.000	G
PEAK1	79834	genome.wustl.edu	37	15	77471618	77471618	+	Missense_Mutation	SNP	T	T	C			TCGA-AR-A1AM-01A-41D-A228-09	TCGA-AR-A1AM-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	012e1ff3-7ed3-4dee-ae3d-44a8050d774e	23e838ec-7c27-4869-975d-e3b6f25ace19	g.chr15:77471618T>C	ENST00000560626.2	-	4	3126	c.2651A>G	c.(2650-2652)aAc>aGc	p.N884S	PEAK1_ENST00000558305.1_Missense_Mutation_p.N884S|PEAK1_ENST00000312493.4_Missense_Mutation_p.N884S			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	884					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CTGCAAAAGGTTACCTGCATG	0.552																																						dbGAP											0													95.0	94.0	94.0					15																	77471618		1948	4137	6085	-	-	-	SO:0001583	missense	0				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.2651A>G	15.37:g.77471618T>C	ENSP00000452796:p.Asn884Ser		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.N884S	ENST00000560626.2	37	c.2651	CCDS42062.1	15	.	.	.	.	.	.	.	.	.	.	T	12.26	1.883649	0.33255	.	.	ENSG00000173517	ENST00000312493	T	0.71817	-0.6	5.81	2.27	0.28462	.	0.000000	0.64402	D	0.000003	T	0.49201	0.1543	L	0.29908	0.895	0.37459	D	0.915128	B	0.32918	0.39	B	0.24541	0.054	T	0.38112	-0.9676	10	0.30078	T	0.28	-12.2179	5.658	0.17652	0.0:0.2037:0.1313:0.665	.	884	Q9H792	PEAK1_HUMAN	S	884	ENSP00000309230:N884S	ENSP00000309230:N884S	N	-	2	0	AC087465.1	75258673	1.000000	0.71417	0.724000	0.30704	0.507000	0.33981	4.767000	0.62286	0.136000	0.18733	-0.250000	0.11733	AAC	PEAK1	-	NULL	ENSG00000173517		0.552	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PEAK1	Clone_based_vega_gene	protein_coding	OTTHUMT00000419483.3	27	0.00	0	T			77471618	77471618	-1	no_errors	ENST00000312493	ensembl	human	known	69_37n	missense	20	16.67	4	SNP	1.000	C
PTEN	5728	genome.wustl.edu	37	10	89624296	89624296	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AM-01A-41D-A228-09	TCGA-AR-A1AM-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	012e1ff3-7ed3-4dee-ae3d-44a8050d774e	23e838ec-7c27-4869-975d-e3b6f25ace19	g.chr10:89624296G>A	ENST00000371953.3	+	1	1427	c.70G>A	c.(70-72)Gac>Aac	p.D24N	KLLN_ENST00000445946.3_5'Flank	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	24	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(13)|p.D24Y(4)|p.D24N(2)|p.D24fs*20(2)|p.D24_L25del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATTCGACTTAGACTTGACCTG	0.463		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												dbGAP	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	59	Whole gene deletion(37)|Unknown(13)|Substitution - Missense(6)|Insertion - Frameshift(2)|Deletion - In frame(1)	prostate(14)|central_nervous_system(12)|skin(7)|lung(6)|ovary(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|bone(2)|breast(2)|biliary_tract(1)|stomach(1)|soft_tissue(1)|large_intestine(1)|kidney(1)	GRCh37	CM993669	PTEN	M							167.0	158.0	161.0					10																	89624296		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.70G>A	10.37:g.89624296G>A	ENSP00000361021:p.Asp24Asn		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.D24N	ENST00000371953.3	37	c.70	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221150	0.79464	.	.	ENSG00000171862	ENST00000371953	D	0.98835	-5.17	5.28	5.28	0.74379	Phosphatase tensin type (1);	0.107942	0.64402	D	0.000010	D	0.98448	0.9483	M	0.92367	3.3	0.80722	D	1	B	0.16396	0.017	B	0.15052	0.012	D	0.98438	1.0585	9	.	.	.	-0.0364	17.6706	0.88216	0.0:0.0:1.0:0.0	.	24	P60484	PTEN_HUMAN	N	24	ENSP00000361021:D24N	.	D	+	1	0	PTEN	89614276	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.855000	0.92236	2.467000	0.83353	0.561000	0.74099	GAC	PTEN	-	smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ	ENSG00000171862		0.463	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	37	0.00	0	G	NM_000314		89624296	89624296	+1	no_errors	ENST00000371953	ensembl	human	known	69_37n	missense	20	31.03	9	SNP	1.000	A
RNPC3	55599	genome.wustl.edu	37	1	104076467	104076467	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AR-A1AM-01A-41D-A228-09	TCGA-AR-A1AM-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	012e1ff3-7ed3-4dee-ae3d-44a8050d774e	23e838ec-7c27-4869-975d-e3b6f25ace19	g.chr1:104076467delA	ENST00000533099.1	+	4	583	c.347delA	c.(346-348)gaafs	p.E116fs	RNPC3_ENST00000423855.2_Frame_Shift_Del_p.E116fs|RNPC3_ENST00000524631.1_Frame_Shift_Del_p.E116fs			Q96LT9	RBM40_HUMAN	RNA-binding region (RNP1, RRM) containing 3	116	Necessary for interaction with PDCD7.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Lung(183;0.111)|Epithelial(280;0.122)|all cancers(265;0.125)|Colorectal(144;0.163)		TCAGGCTCTGAAAAAAAAAAA	0.318																																						dbGAP											0										85,435,1262		6,1,72,18,398,396	50.0	39.0	43.0			4.6	0.6	1		49	197,914,2651		20,3,154,16,879,809	no	codingComplex	RNPC3	NM_017619.3		26,4,226,34,1277,1205	A1A1,A1A2,A1R,A2A2,A2R,RR		29.5322,29.1807,29.4192			104076467	282,1349,3913	692	1590	2282	-	-	-	SO:0001589	frameshift_variant	0			AB058742, AY099329	CCDS781.1	1p21.1	2013-07-16			ENSG00000185946	ENSG00000185946		"""RNA binding motif (RRM) containing"""	18666	protein-coding gene	gene with protein product	"""U11/U12 snRNP 65K"""					14974681, 15146077	Standard	NM_017619		Approved	KIAA1839, FLJ20008, RBM40, SNRNP65	uc010oun.2	Q96LT9	OTTHUMG00000166613	ENST00000533099.1:c.347delA	1.37:g.104076467delA	ENSP00000432886:p.Glu116fs		A8K1C9|D3DT74|Q5TZ87|Q96FK7|Q96JI8|Q9NSU7|Q9NXX2	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.K119fs	ENST00000533099.1	37	c.347	CCDS781.1	1																																																																																			RNPC3	-	NULL	ENSG00000185946		0.318	RNPC3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RNPC3	HGNC	protein_coding	OTTHUMT00000390812.1	18	0.00	0	A	NM_017619		104076467	104076467	+1	no_errors	ENST00000423855	ensembl	human	known	69_37n	frame_shift_del	13	27.78	5	DEL	0.784	-
RPS4XP21	126235	genome.wustl.edu	37	19	34583700	34583700	+	IGR	SNP	C	C	T	rs2121139	byFrequency	TCGA-AR-A1AM-01A-41D-A228-09	TCGA-AR-A1AM-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	012e1ff3-7ed3-4dee-ae3d-44a8050d774e	23e838ec-7c27-4869-975d-e3b6f25ace19	g.chr19:34583700C>T								RN7SL150P (165170 upstream) : LSM14A (79729 downstream)																							CAGTGTCGAACTTCAAAGCAG	0.473													C|||	618	0.123403	0.2413	0.0548	5008	,	,		20064	0.0169		0.1243	False		,,,				2504	0.1217					dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0																															19.37:g.34583700C>T				Silent	SNP	pfam_Ribosomal_S4e_central,pfam_Ribosomal_S4e_N,pirsf_Ribosomal_S4e	p.K183		37	c.549		19																																																																																			RPS4XP21	-	pirsf_Ribosomal_S4e	ENSG00000186008	0	0.473					RPS4XP21	HGNC			34	0.00	0	C			34583700	34583700	-1	no_errors	ENST00000469064	ensembl	human	putative	69_37n	silent	24	11.11	3	SNP	1.000	T
SF3B1	23451	genome.wustl.edu	37	2	198266834	198266834	+	Missense_Mutation	SNP	T	T	C	rs559063155		TCGA-AR-A1AM-01A-41D-A228-09	TCGA-AR-A1AM-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	012e1ff3-7ed3-4dee-ae3d-44a8050d774e	23e838ec-7c27-4869-975d-e3b6f25ace19	g.chr2:198266834T>C	ENST00000335508.6	-	15	2189	c.2098A>G	c.(2098-2100)Aaa>Gaa	p.K700E	SF3B1_ENST00000462613.1_5'UTR|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	700					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.K700E(179)|p.Q699_K700del(2)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTCCGAACTTTCTGCTGCTCA	0.408			Mis		myelodysplastic syndrome								T|||	1	0.000199681	0.0	0.0	5008	,	,		17946	0.0		0.0	False		,,,				2504	0.001					dbGAP		Dom	yes		2	2q33.1	23451	"""splicing factor 3b, subunit 1, 155kDa"""		L	181	Substitution - Missense(179)|Deletion - In frame(2)	haematopoietic_and_lymphoid_tissue(153)|NS(20)|breast(5)|pancreas(2)|central_nervous_system(1)																																								-	-	-	SO:0001583	missense	0			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2098A>G	2.37:g.198266834T>C	ENSP00000335321:p.Lys700Glu		E9PCH3	Missense_Mutation	SNP	pfam_SF3b_su1,superfamily_ARM-type_fold	p.K700E	ENST00000335508.6	37	c.2098	CCDS33356.1	2	.	.	.	.	.	.	.	.	.	.	T	33	5.243295	0.95272	.	.	ENSG00000115524	ENST00000335508	T	0.63580	-0.05	6.02	6.02	0.97574	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85609	0.5736	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89820	0.3988	10	0.87932	D	0	.	16.542	0.84395	0.0:0.0:0.0:1.0	.	700	O75533	SF3B1_HUMAN	E	700	ENSP00000335321:K700E	ENSP00000335321:K700E	K	-	1	0	SF3B1	197975079	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.555000	0.82223	2.304000	0.77564	0.528000	0.53228	AAA	SF3B1	-	superfamily_ARM-type_fold	ENSG00000115524		0.408	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B1	HGNC	protein_coding	OTTHUMT00000335245.2	24	0.00	0	T			198266834	198266834	-1	no_errors	ENST00000335508	ensembl	human	known	69_37n	missense	15	21.05	4	SNP	1.000	C
SLC6A2	6530	genome.wustl.edu	37	16	55725894	55725894	+	Missense_Mutation	SNP	C	C	T	rs45564432	byFrequency	TCGA-AR-A1AM-01A-41D-A228-09	TCGA-AR-A1AM-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	012e1ff3-7ed3-4dee-ae3d-44a8050d774e	23e838ec-7c27-4869-975d-e3b6f25ace19	g.chr16:55725894C>T	ENST00000379906.2	+	5	1103	c.848C>T	c.(847-849)aCg>aTg	p.T283M	SLC6A2_ENST00000219833.8_Missense_Mutation_p.T283M|SLC6A2_ENST00000568943.1_Missense_Mutation_p.T283M|SLC6A2_ENST00000561820.1_Missense_Mutation_p.T283M|SLC6A2_ENST00000567238.1_Missense_Mutation_p.T178M|SLC6A2_ENST00000414754.3_Missense_Mutation_p.T283M|SLC6A2_ENST00000566163.1_Intron	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	283			T -> R (in dbSNP:rs45564432).		monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CATGGCGTCACGCTGCCCGGA	0.587																																						dbGAP											0													140.0	92.0	109.0					16																	55725894		2198	4300	6498	-	-	-	SO:0001583	missense	0				CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.848C>T	16.37:g.55725894C>T	ENSP00000369237:p.Thr283Met		B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline	p.T283M	ENST00000379906.2	37	c.848	CCDS10754.1	16	.	.	.	.	.	.	.	.	.	.	C	23.4	4.407859	0.83340	.	.	ENSG00000103546	ENST00000414754;ENST00000379906;ENST00000219833	T;T;T	0.79247	-1.25;-1.25;-1.25	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.85212	0.5645	M	0.82923	2.615	0.80722	D	1	P;P;P	0.52316	0.952;0.952;0.952	P;P;P	0.51487	0.671;0.671;0.671	D	0.87367	0.2348	10	0.54805	T	0.06	.	18.0825	0.89445	0.0:1.0:0.0:0.0	.	283;178;283	Q96KH8;B4DX48;P23975	.;.;SC6A2_HUMAN	M	283	ENSP00000394956:T283M;ENSP00000369237:T283M;ENSP00000219833:T283M	ENSP00000219833:T283M	T	+	2	0	SLC6A2	54283395	1.000000	0.71417	0.996000	0.52242	0.941000	0.58515	5.516000	0.67055	2.428000	0.82296	0.655000	0.94253	ACG	SLC6A2	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000103546		0.587	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A2	HGNC	protein_coding	OTTHUMT00000256922.2	51	0.00	0	C			55725894	55725894	+1	no_errors	ENST00000219833	ensembl	human	known	69_37n	missense	23	23.33	7	SNP	1.000	T
SPATA13	221178	genome.wustl.edu	37	13	24868916	24868916	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A1AM-01A-41D-A228-09	TCGA-AR-A1AM-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	012e1ff3-7ed3-4dee-ae3d-44a8050d774e	23e838ec-7c27-4869-975d-e3b6f25ace19	g.chr13:24868916G>T	ENST00000382095.4	+	9	1652	c.1245G>T	c.(1243-1245)aaG>aaT	p.K415N	SPATA13_ENST00000424834.2_Missense_Mutation_p.K1040N|SPATA13_ENST00000409126.1_Missense_Mutation_p.K275N|RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.K918N|SPATA13_ENST00000382108.3_Missense_Mutation_p.K1040N|SPATA13_ENST00000343003.6_Missense_Mutation_p.K359N|SPATA13_ENST00000399949.2_Missense_Mutation_p.K337N	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	415	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		AGGCCATGAAGAATGTGGCCT	0.483																																						dbGAP											0													141.0	118.0	126.0					13																	24868916		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.1245G>T	13.37:g.24868916G>T	ENSP00000371527:p.Lys415Asn		A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Nonsense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.E956*	ENST00000382095.4	37	c.2866	CCDS9305.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.32|19.32	3.804742|3.804742	0.70682|0.70682	.|.	.|.	ENSG00000182957|ENSG00000182957	ENST00000424834|ENST00000382108;ENST00000382095;ENST00000434675;ENST00000438694;ENST00000399949;ENST00000409126;ENST00000343003	.|T;T;T;T;T;T	.|0.66815	.|-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.42|5.42	4.57|4.57	0.56435|0.56435	.|Dbl homology (DH) domain (5);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.80560	.|0.4646	M|M	0.82193|0.82193	2.58|2.58	0.51767|0.51767	D|D	0.999935|0.999935	.|D;D;D;D;D;D	.|0.76494	.|0.994;0.997;0.992;0.999;0.999;0.999	.|D;D;D;D;D;D	.|0.81914	.|0.95;0.979;0.917;0.991;0.991;0.995	.|T	.|0.81111	.|-0.1081	.|10	.|0.51188	.|T	.|0.08	.|.	9.5673|9.5673	0.39407|0.39407	0.1592:0.0:0.8408:0.0|0.1592:0.0:0.8408:0.0	.|.	.|275;359;299;361;337;415	.|E9PFR9;Q96N96-3;Q96N96-5;Q96N96-4;Q96N96-2;Q96N96	.|.;.;.;.;.;SPT13_HUMAN	X|N	1078|1040;415;313;361;337;275;359	.|ENSP00000371542:K1040N;ENSP00000371527:K415N;ENSP00000401605:K313N;ENSP00000382830:K337N;ENSP00000386471:K275N;ENSP00000343631:K359N	.|ENSP00000343631:K359N	E|K	+|+	1|3	0|2	SPATA13|SPATA13	23766916|23766916	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.832000|0.832000	0.47134|0.47134	4.606000|4.606000	0.61126|0.61126	1.300000|1.300000	0.44818|0.44818	0.561000|0.561000	0.74099|0.74099	GAA|AAG	SPATA13	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000182957		0.483	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPATA13	HGNC	protein_coding	OTTHUMT00000044180.2	27	0.00	0	G	NM_153023		24868916	24868916	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000382141	ensembl	human	known	69_37n	nonsense	14	17.65	3	SNP	1.000	T
SPTAN1	6709	genome.wustl.edu	37	9	131344200	131344200	+	Intron	SNP	A	A	G			TCGA-AR-A1AM-01A-41D-A228-09	TCGA-AR-A1AM-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	012e1ff3-7ed3-4dee-ae3d-44a8050d774e	23e838ec-7c27-4869-975d-e3b6f25ace19	g.chr9:131344200A>G	ENST00000372731.4	+	12	1682				SPTAN1_ENST00000372739.3_Intron|SPTAN1_ENST00000358161.5_Intron	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1						actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGTGCTTTCAAATGACCCTTA	0.423																																					NSCLC(120;833 1744 2558 35612 37579)	dbGAP											0													65.0	66.0	66.0					9																	131344200		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.1572+29A>G	9.37:g.131344200A>G			Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	RNA	SNP	-	NULL	ENST00000372731.4	37	NULL	CCDS6905.1	9																																																																																			SPTAN1	-	-	ENSG00000197694		0.423	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	30	0.00	0	A	NM_003127		131344200	131344200	+1	no_errors	ENST00000472211	ensembl	human	known	69_37n	rna	19	32.14	9	SNP	0.000	G
TET1	80312	genome.wustl.edu	37	10	70451416	70451416	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AR-A1AM-01A-41D-A228-09	TCGA-AR-A1AM-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	012e1ff3-7ed3-4dee-ae3d-44a8050d774e	23e838ec-7c27-4869-975d-e3b6f25ace19	g.chr10:70451416C>T	ENST00000373644.4	+	12	6465	c.6256C>T	c.(6256-6258)Cag>Tag	p.Q2086*		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	2086					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GCAAAAAGACCAGGCAGCTAA	0.368																																						dbGAP											0													66.0	70.0	69.0					10																	70451416		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.6256C>T	10.37:g.70451416C>T	ENSP00000362748:p.Gln2086*		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Nonsense_Mutation	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.Q2086*	ENST00000373644.4	37	c.6256	CCDS7281.1	10	.	.	.	.	.	.	.	.	.	.	C	45	11.376549	0.99553	.	.	ENSG00000138336	ENST00000373644	.	.	.	5.58	1.32	0.21799	.	1.237240	0.05317	N	0.525954	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.5859	0.17274	0.503:0.3263:0.1006:0.07	.	.	.	.	X	2086	.	ENSP00000362748:Q2086X	Q	+	1	0	TET1	70121422	0.000000	0.05858	0.051000	0.19133	0.884000	0.51177	-0.076000	0.11412	0.269000	0.21961	0.563000	0.77884	CAG	TET1	-	NULL	ENSG00000138336		0.368	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	27	0.00	0	C	NM_030625		70451416	70451416	+1	no_errors	ENST00000373644	ensembl	human	known	69_37n	nonsense	17	15.00	3	SNP	0.000	T
VWA8	23078	genome.wustl.edu	37	13	42273247	42273247	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A1AM-01A-41D-A228-09	TCGA-AR-A1AM-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	012e1ff3-7ed3-4dee-ae3d-44a8050d774e	23e838ec-7c27-4869-975d-e3b6f25ace19	g.chr13:42273247C>T	ENST00000379310.3	-	29	3592	c.3524G>A	c.(3523-3525)gGa>gAa	p.G1175E	VWA8_ENST00000478987.1_5'Flank	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1175						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										GAGAGGACTTCCCAGCGGTGC	0.458																																						dbGAP											0													110.0	110.0	110.0					13																	42273247		1958	4148	6106	-	-	-	SO:0001583	missense	0			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.3524G>A	13.37:g.42273247C>T	ENSP00000368612:p.Gly1175Glu		O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A	p.G1175E	ENST00000379310.3	37	c.3524	CCDS41881.1	13	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989601	0.74589	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.13420	2.59	5.39	2.71	0.32032	.	0.064020	0.64402	N	0.000010	T	0.31136	0.0787	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01108	-1.1449	10	0.72032	D	0.01	.	8.7281	0.34483	0.0:0.7389:0.1253:0.1359	.	1175	A3KMH1	K0564_HUMAN	E	1079;1175	ENSP00000368612:G1175E	ENSP00000251030:G1079E	G	-	2	0	KIAA0564	41171247	1.000000	0.71417	0.966000	0.40874	0.923000	0.55619	4.291000	0.59025	0.342000	0.23796	-0.225000	0.12378	GGA	VWA8	-	NULL	ENSG00000102763		0.458	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA8	HGNC	protein_coding	OTTHUMT00000354828.2	21	0.00	0	C	NM_015058		42273247	42273247	-1	no_errors	ENST00000379310	ensembl	human	known	69_37n	missense	22	18.52	5	SNP	1.000	T
ZCCHC5	203430	genome.wustl.edu	37	X	77913761	77913761	+	Nonsense_Mutation	SNP	G	G	A	rs143898170		TCGA-AR-A1AM-01A-41D-A228-09	TCGA-AR-A1AM-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	012e1ff3-7ed3-4dee-ae3d-44a8050d774e	23e838ec-7c27-4869-975d-e3b6f25ace19	g.chrX:77913761G>A	ENST00000321110.1	-	2	452	c.157C>T	c.(157-159)Cga>Tga	p.R53*		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	53							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GAGGACTTTCGGAGTAGATCA	0.572													G|||	2	0.000529801	0.0	0.0	3775	,	,		11396	0.002		0.0	False		,,,				2504	0.0					dbGAP											0													38.0	33.0	34.0					X																	77913761		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.157C>T	X.37:g.77913761G>A	ENSP00000316794:p.Arg53*		B2RMZ0|Q5JQE9	Nonsense_Mutation	SNP	pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.R53*	ENST00000321110.1	37	c.157	CCDS14440.1	X	9	0.0054249547920434	1	0.0020325203252032522	0	0.0	3	0.005244755244755245	5	0.006596306068601583	G	18.78	3.695895	0.68386	.	.	ENSG00000179300	ENST00000321110	.	.	.	3.77	2.9	0.33743	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	8.9809	0.35964	0.1201:0.0:0.8799:0.0	.	.	.	.	X	53	.	ENSP00000316794:R53X	R	-	1	2	ZCCHC5	77800417	0.640000	0.27243	0.003000	0.11579	0.004000	0.04260	2.719000	0.47244	0.700000	0.31782	0.422000	0.28245	CGA	ZCCHC5	-	NULL	ENSG00000179300		0.572	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC5	HGNC	protein_coding	OTTHUMT00000057319.1	54	0.00	0	G	NM_152694		77913761	77913761	-1	no_errors	ENST00000321110	ensembl	human	known	69_37n	nonsense	45	22.41	13	SNP	0.156	A
