#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
AARS	16	genome.wustl.edu	37	16	70298894	70298894	+	Missense_Mutation	SNP	A	A	G			TCGA-LL-A5YN-01A-11D-A28B-09	TCGA-LL-A5YN-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cade5be6-403b-410a-880a-194025f032e7	f064055b-243c-470c-81bf-1213874bc776	g.chr16:70298894A>G	ENST00000261772.8	-	11	1602	c.1459T>C	c.(1459-1461)Tac>Cac	p.Y487H	AARS_ENST00000564359.1_5'Flank|RN7SL407P_ENST00000583724.1_RNA	NM_001605.2	NP_001596.2			alanyl-tRNA synthetase											breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		TGGTAATTGTACTTTGGGGAA	0.517																																						dbGAP											0													119.0	94.0	103.0					16																	70298894		2198	4300	6498	-	-	-	SO:0001583	missense	0			D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	20	protein-coding gene	gene with protein product	"""alanine tRNA ligase 1, cytoplasmic"""	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.1459T>C	16.37:g.70298894A>G	ENSP00000261772:p.Tyr487His			Missense_Mutation	SNP	pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tRNA-synth_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-synth_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-synth_IIc	p.Y487H	ENST00000261772.8	37	c.1459	CCDS32474.1	16	.	.	.	.	.	.	.	.	.	.	A	19.76	3.888086	0.72524	.	.	ENSG00000090861	ENST00000261772	T	0.79749	-1.3	6.14	6.14	0.99180	Alanyl-tRNA synthetase, class IIc, anti-codon-binding domain (1);Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91327	0.7265	M	0.90252	3.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.92638	0.6122	10	0.66056	D	0.02	-16.1663	14.7244	0.69332	1.0:0.0:0.0:0.0	.	495;487	E7ETK8;P49588	.;SYAC_HUMAN	H	487	ENSP00000261772:Y487H	ENSP00000261772:Y487H	Y	-	1	0	AARS	68856395	1.000000	0.71417	0.950000	0.38849	0.393000	0.30537	9.213000	0.95133	2.360000	0.80028	0.519000	0.50382	TAC	AARS	-	pfam_Ala-tRNA-synth_IIc_N,superfamily_Ala-tRNA-synth_IIc_anticod-bd,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-synth_IIc	ENSG00000090861		0.517	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARS	HGNC	protein_coding	OTTHUMT00000435021.2	66	0.00	0	A	NM_001605		70298894	70298894	-1	no_errors	ENST00000261772	ensembl	human	known	69_37n	missense	28	33.33	14	SNP	1.000	G
ANLN	54443	genome.wustl.edu	37	7	36447355	36447355	+	Missense_Mutation	SNP	C	C	T	rs77248468		TCGA-LL-A5YN-01A-11D-A28B-09	TCGA-LL-A5YN-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cade5be6-403b-410a-880a-194025f032e7	f064055b-243c-470c-81bf-1213874bc776	g.chr7:36447355C>T	ENST00000265748.2	+	5	1107	c.886C>T	c.(886-888)Cca>Tca	p.P296S	ANLN_ENST00000495714.1_3'UTR|ANLN_ENST00000396068.2_Missense_Mutation_p.P296S	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	296	Interaction with F-actin.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AGCTACTTCTCCAGTGAAATC	0.353																																						dbGAP											0													68.0	73.0	71.0					7																	36447355		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.886C>T	7.37:g.36447355C>T	ENSP00000265748:p.Pro296Ser		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P296S	ENST00000265748.2	37	c.886	CCDS5447.1	7	.	.	.	.	.	.	.	.	.	.	C	15.44	2.833757	0.50951	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.01767	4.65;4.65	5.22	4.33	0.51752	.	0.329814	0.37095	N	0.002256	T	0.02649	0.0080	L	0.54323	1.7	0.33162	D	0.547146	B;P;P;P	0.46395	0.124;0.804;0.877;0.804	B;B;P;B	0.49999	0.08;0.424;0.628;0.424	T	0.33292	-0.9874	10	0.13108	T	0.6	-14.4854	2.1974	0.03915	0.1788:0.5053:0.172:0.1439	.	173;296;296;296	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	S	296	ENSP00000265748:P296S;ENSP00000379380:P296S	ENSP00000265748:P296S	P	+	1	0	ANLN	36413880	0.548000	0.26473	1.000000	0.80357	0.978000	0.69477	0.758000	0.26447	2.826000	0.97356	0.579000	0.79373	CCA	ANLN	-	NULL	ENSG00000011426		0.353	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANLN	HGNC	protein_coding	OTTHUMT00000218582.3	74	0.00	0	C	NM_018685		36447355	36447355	+1	no_errors	ENST00000265748	ensembl	human	known	69_37n	missense	69	10.39	8	SNP	0.991	T
ATM	472	genome.wustl.edu	37	11	108124625	108124626	+	Frame_Shift_Ins	INS	-	-	T			TCGA-LL-A5YN-01A-11D-A28B-09	TCGA-LL-A5YN-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cade5be6-403b-410a-880a-194025f032e7	f064055b-243c-470c-81bf-1213874bc776	g.chr11:108124625_108124626insT	ENST00000452508.2	+	14	2172_2173	c.1983_1984insT	c.(1984-1986)tttfs	p.F662fs	ATM_ENST00000278616.4_Frame_Shift_Ins_p.F662fs			Q13315	ATM_HUMAN	ATM serine/threonine kinase	662					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ACAAGATGGACTTTTTAACCAT	0.381			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												dbGAP	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0																																										-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.1988dupT	11.37:g.108124630_108124630dupT	ENSP00000388058:p.Phe662fs		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Frame_Shift_Ins	INS	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L662fs	ENST00000452508.2	37	c.1983_1984	CCDS31669.1	11																																																																																			ATM	-	superfamily_ARM-type_fold	ENSG00000149311		0.381	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	46	0.00	0	-	NM_000051		108124625	108124626	+1	no_errors	ENST00000278616	ensembl	human	known	69_37n	frame_shift_ins	38	13.64	6	INS	1.000:1.000	T
ATP8A1	10396	genome.wustl.edu	37	4	42626614	42626614	+	Missense_Mutation	SNP	G	G	A			TCGA-LL-A5YN-01A-11D-A28B-09	TCGA-LL-A5YN-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cade5be6-403b-410a-880a-194025f032e7	f064055b-243c-470c-81bf-1213874bc776	g.chr4:42626614G>A	ENST00000381668.5	-	4	533	c.302C>T	c.(301-303)aCa>aTa	p.T101I	ATP8A1_ENST00000264449.10_Missense_Mutation_p.T101I	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	101					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	AGGAACCAGTGTTGTATAACG	0.294																																						dbGAP											0													50.0	52.0	51.0					4																	42626614		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.302C>T	4.37:g.42626614G>A	ENSP00000371084:p.Thr101Ile		Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.T101I	ENST00000381668.5	37	c.302	CCDS3466.1	4	.	.	.	.	.	.	.	.	.	.	G	27.9	4.877071	0.91664	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	D;D	0.88975	-2.45;-2.45	5.58	5.58	0.84498	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.93697	0.7986	L	0.59967	1.855	0.80722	D	1	D;D;D	0.89917	0.995;1.0;1.0	D;D;D	0.97110	0.979;0.999;1.0	D	0.93572	0.6905	10	0.66056	D	0.02	.	19.9299	0.97115	0.0:0.0:1.0:0.0	.	101;101;101	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	I	101	ENSP00000371084:T101I;ENSP00000264449:T101I	ENSP00000264449:T101I	T	-	2	0	ATP8A1	42321371	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.228000	0.95250	2.769000	0.95229	0.655000	0.94253	ACA	ATP8A1	-	tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000124406		0.294	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP8A1	HGNC	protein_coding	OTTHUMT00000216861.2	97	0.00	0	G	NM_006095		42626614	42626614	-1	no_errors	ENST00000381668	ensembl	human	known	69_37n	missense	61	22.78	18	SNP	1.000	A
MISP	126353	genome.wustl.edu	37	19	758171	758171	+	Missense_Mutation	SNP	G	G	A			TCGA-LL-A5YN-01A-11D-A28B-09	TCGA-LL-A5YN-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cade5be6-403b-410a-880a-194025f032e7	f064055b-243c-470c-81bf-1213874bc776	g.chr19:758171G>A	ENST00000215582.6	+	2	1328	c.1225G>A	c.(1225-1227)Gac>Aac	p.D409N		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	409					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											CCGTGCGGCCGACCCAGCTCC	0.667																																						dbGAP											0													19.0	17.0	18.0					19																	758171		2196	4287	6483	-	-	-	SO:0001583	missense	0			BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"""mitotic interactor and substrate of Plk1"""	615289	"""chromosome 19 open reading frame 21"""	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.1225G>A	19.37:g.758171G>A	ENSP00000215582:p.Asp409Asn			Missense_Mutation	SNP	NULL	p.D409N	ENST00000215582.6	37	c.1225	CCDS12042.1	19	.	.	.	.	.	.	.	.	.	.	G	11.55	1.671000	0.29693	.	.	ENSG00000099812	ENST00000215582	T	0.31510	1.49	4.11	-1.61	0.08399	.	1.200000	0.06021	N	0.651269	T	0.15089	0.0364	L	0.35414	1.06	0.09310	N	1	P	0.38745	0.645	B	0.19946	0.027	T	0.20874	-1.0262	10	0.28530	T	0.3	-10.3163	3.8916	0.09120	0.3934:0.0:0.4389:0.1677	.	409	Q8IVT2	CS021_HUMAN	N	409	ENSP00000215582:D409N	ENSP00000215582:D409N	D	+	1	0	C19orf21	709171	0.000000	0.05858	0.000000	0.03702	0.216000	0.24613	0.107000	0.15375	-0.033000	0.13736	0.491000	0.48974	GAC	C19orf21	-	NULL	ENSG00000099812		0.667	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf21	HGNC	protein_coding	OTTHUMT00000457600.2	57	0.00	0	G	NM_173481		758171	758171	+1	no_errors	ENST00000215582	ensembl	human	known	69_37n	missense	28	12.50	4	SNP	0.000	A
CACNB3	784	genome.wustl.edu	37	12	49221505	49221505	+	Missense_Mutation	SNP	G	G	T			TCGA-LL-A5YN-01A-11D-A28B-09	TCGA-LL-A5YN-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cade5be6-403b-410a-880a-194025f032e7	f064055b-243c-470c-81bf-1213874bc776	g.chr12:49221505G>T	ENST00000301050.2	+	13	1477	c.1278G>T	c.(1276-1278)gaG>gaT	p.E426D	CACNB3_ENST00000540990.1_Missense_Mutation_p.E413D|CACNB3_ENST00000547230.1_Missense_Mutation_p.E385D|CACNB3_ENST00000547392.1_Missense_Mutation_p.E399D|CACNB3_ENST00000536187.2_Missense_Mutation_p.E425D	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	426					axon guidance (GO:0007411)|calcium ion transport (GO:0006816)|membrane depolarization (GO:0051899)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|membrane (GO:0016020)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GCCACCTGGAGGAGGACTATG	0.637																																						dbGAP											0													92.0	81.0	85.0					12																	49221505		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8769.1, CCDS55821.1, CCDS55822.1, CCDS55823.1	12q13	2008-05-02				ENSG00000167535		"""Calcium channel subunits"""	1403	protein-coding gene	gene with protein product		601958		CACNLB3		8119293	Standard	NM_000725		Approved		uc010sly.2	P54284		ENST00000301050.2:c.1278G>T	12.37:g.49221505G>T	ENSP00000301050:p.Glu426Asp		A8K0Z4|B7Z4Q1|B7Z973|B7ZAK8|F5GZW7|F5H2P6|F8VSG3|Q13913	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,prints_VDCC_L_bsu,prints_VDCC_L_b3su	p.E426D	ENST00000301050.2	37	c.1278	CCDS8769.1	12	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676036	0.67928	.	.	ENSG00000167535	ENST00000540990;ENST00000536187;ENST00000547392;ENST00000301050;ENST00000547230	T;T;T;T;T	0.74526	-0.82;-0.81;-0.85;-0.83;-0.23	5.5	-0.606	0.11619	.	0.470562	0.22413	N	0.060382	T	0.66167	0.2762	N	0.20986	0.625	0.45415	D	0.998394	D;D;D;P	0.64830	0.994;0.994;0.99;0.941	P;P;P;B	0.54706	0.759;0.759;0.579;0.333	T	0.59994	-0.7349	10	0.22706	T	0.39	-26.4774	10.4827	0.44702	0.4082:0.0:0.5918:0.0	.	425;413;426;413	F5GZW7;F5H2P6;P54284;B7Z973	.;.;CACB3_HUMAN;.	D	413;425;399;426;385	ENSP00000445495:E413D;ENSP00000444160:E425D;ENSP00000446529:E399D;ENSP00000301050:E426D;ENSP00000448304:E385D	ENSP00000301050:E426D	E	+	3	2	CACNB3	47507772	0.985000	0.35326	0.996000	0.52242	0.991000	0.79684	0.061000	0.14366	-0.046000	0.13446	0.655000	0.94253	GAG	CACNB3	-	NULL	ENSG00000167535		0.637	CACNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNB3	HGNC	protein_coding	OTTHUMT00000408886.1	51	0.00	0	G			49221505	49221505	+1	no_errors	ENST00000301050	ensembl	human	known	69_37n	missense	14	17.65	3	SNP	1.000	T
CCDC136	64753	genome.wustl.edu	37	7	128446755	128446755	+	Missense_Mutation	SNP	G	G	A			TCGA-LL-A5YN-01A-11D-A28B-09	TCGA-LL-A5YN-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cade5be6-403b-410a-880a-194025f032e7	f064055b-243c-470c-81bf-1213874bc776	g.chr7:128446755G>A	ENST00000297788.4	+	9	1629	c.1262G>A	c.(1261-1263)cGg>cAg	p.R421Q	CCDC136_ENST00000487361.1_Missense_Mutation_p.R368Q|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000464832.1_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	421						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						TTACTGTGCCGGCTGCAGAAG	0.562																																						dbGAP											0													22.0	23.0	23.0					7																	128446755		1947	4131	6078	-	-	-	SO:0001583	missense	0				CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.1262G>A	7.37:g.128446755G>A	ENSP00000297788:p.Arg421Gln		A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	NULL	p.R421Q	ENST00000297788.4	37	c.1262	CCDS47704.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.71|16.71	3.199181|3.199181	0.58126|0.58126	.|.	.|.	ENSG00000128596|ENSG00000128596	ENST00000494552|ENST00000487361;ENST00000297788;ENST00000397697;ENST00000320524;ENST00000464672	.|T;T;T	.|0.40476	.|1.03;1.03;1.03	5.62|5.62	-0.519|-0.519	0.11939|0.11939	.|.	.|0.652881	.|0.14248	.|N	.|0.331602	T|T	0.24509|0.24509	0.0594|0.0594	L|L	0.38531|0.38531	1.155|1.155	0.26478|0.26478	N|N	0.975165|0.975165	.|B;B;B	.|0.22983	.|0.078;0.009;0.078	.|B;B;B	.|0.16722	.|0.016;0.005;0.016	T|T	0.18935|0.18935	-1.0321|-1.0321	5|10	.|0.17369	.|T	.|0.5	-16.4531|-16.4531	4.3223|4.3223	0.11023|0.11023	0.4768:0.1744:0.3488:0.0|0.4768:0.1744:0.3488:0.0	.|.	.|421;368;421	.|Q96JN2-2;C9JE17;Q96JN2	.|.;.;CC136_HUMAN	S|Q	298|368;421;421;421;12	.|ENSP00000420509:R368Q;ENSP00000297788:R421Q;ENSP00000417991:R12Q	.|ENSP00000297788:R421Q	G|R	+|+	1|2	0|0	CCDC136|CCDC136	128233991|128233991	0.997000|0.997000	0.39634|0.39634	0.989000|0.989000	0.46669|0.46669	0.976000|0.976000	0.68499|0.68499	0.098000|0.098000	0.15189|0.15189	-0.003000|-0.003000	0.14444|0.14444	0.655000|0.655000	0.94253|0.94253	GGC|CGG	CCDC136	-	NULL	ENSG00000128596		0.562	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC136	HGNC	protein_coding	OTTHUMT00000350641.1	22	0.00	0	G	NM_022742		128446755	128446755	+1	no_errors	ENST00000297788	ensembl	human	known	69_37n	missense	21	16.00	4	SNP	0.927	A
COL24A1	255631	genome.wustl.edu	37	1	86620237	86620237	+	Intron	SNP	C	C	T			TCGA-LL-A5YN-01A-11D-A28B-09	TCGA-LL-A5YN-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cade5be6-403b-410a-880a-194025f032e7	f064055b-243c-470c-81bf-1213874bc776	g.chr1:86620237C>T	ENST00000370571.2	-	1	423				COL24A1_ENST00000485434.1_5'UTR|COL24A1_ENST00000436319.1_Intron	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1						extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TATTTGGTTTCTCTGCCTCCC	0.468																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.56+1786G>A	1.37:g.86620237C>T			C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	RNA	SNP	-	NULL	ENST00000370571.2	37	NULL	CCDS41353.1	1																																																																																			COL24A1	-	-	ENSG00000171502		0.468	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4	63	0.00	0	C	NM_152890		86620237	86620237	-1	no_errors	ENST00000485434	ensembl	human	known	69_37n	rna	44	21.43	12	SNP	0.714	T
CRLS1	54675	genome.wustl.edu	37	20	5996107	5996107	+	Missense_Mutation	SNP	T	T	C			TCGA-LL-A5YN-01A-11D-A28B-09	TCGA-LL-A5YN-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cade5be6-403b-410a-880a-194025f032e7	f064055b-243c-470c-81bf-1213874bc776	g.chr20:5996107T>C	ENST00000378863.4	+	3	702	c.545T>C	c.(544-546)gTt>gCt	p.V182A	CRLS1_ENST00000378868.4_Missense_Mutation_p.V83A|CRLS1_ENST00000452938.1_Missense_Mutation_p.V182A	NM_019095.4	NP_061968.1	Q9UJA2	CRLS1_HUMAN	cardiolipin synthase 1	182					cardiolipin biosynthetic process (GO:0032049)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			lung(3)|ovary(1)	4						ATCTTATATGTTAGCTTGACC	0.393																																						dbGAP											0													117.0	104.0	108.0					20																	5996107		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF241784	CCDS13096.1, CCDS46578.1	20p13-p12.3	2006-04-04	2006-04-04	2006-04-04	ENSG00000088766	ENSG00000088766			16148	protein-coding gene	gene with protein product	"""GCD10 homolog (S. cerevisiae)"""	608188	"""chromosome 20 open reading frame 155"""	C20orf155		16547353	Standard	NM_019095		Approved	dJ967N21.6, CLS1, GCD10	uc002wmn.4	Q9UJA2	OTTHUMG00000031823	ENST00000378863.4:c.545T>C	20.37:g.5996107T>C	ENSP00000368140:p.Val182Ala		D3DW09|E9PAT4|Q27RP0|Q69YQ5	Missense_Mutation	SNP	pfam_CDP-OH_P_trans	p.V182A	ENST00000378863.4	37	c.545	CCDS13096.1	20	.	.	.	.	.	.	.	.	.	.	T	18.77	3.695566	0.68386	.	.	ENSG00000088766	ENST00000378863;ENST00000452938;ENST00000378868	T	0.47528	0.84	6.03	6.03	0.97812	.	0.443608	0.25352	N	0.031295	T	0.58509	0.2127	M	0.65320	2	0.44899	D	0.997913	B;B;B	0.32862	0.387;0.11;0.087	P;B;B	0.45660	0.489;0.108;0.174	T	0.57441	-0.7811	10	0.45353	T	0.12	-30.5458	15.4366	0.75152	0.0:0.0:0.0:1.0	.	182;83;182	Q6NTG3;Q9UJA2-2;Q9UJA2	.;.;CRLS1_HUMAN	A	182;182;83	ENSP00000416770:V182A	ENSP00000368140:V182A	V	+	2	0	CRLS1	5944107	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.791000	0.85805	2.322000	0.78497	0.529000	0.55759	GTT	CRLS1	-	pfam_CDP-OH_P_trans	ENSG00000088766		0.393	CRLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRLS1	HGNC	protein_coding	OTTHUMT00000077902.2	48	0.00	0	T	NM_019095		5996107	5996107	+1	no_errors	ENST00000378863	ensembl	human	known	69_37n	missense	39	17.02	8	SNP	1.000	C
HEATR5A	25938	genome.wustl.edu	37	14	31858176	31858176	+	Missense_Mutation	SNP	C	C	T			TCGA-LL-A5YN-01A-11D-A28B-09	TCGA-LL-A5YN-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cade5be6-403b-410a-880a-194025f032e7	f064055b-243c-470c-81bf-1213874bc776	g.chr14:31858176C>T	ENST00000389961.3	-	6	789	c.790G>A	c.(790-792)Gag>Aag	p.E264K	HEATR5A_ENST00000543095.2_Missense_Mutation_p.E270K|HEATR5A_ENST00000404677.3_Missense_Mutation_p.E270K|HEATR5A_ENST00000439348.1_Missense_Mutation_p.E264K|HEATR5A_ENST00000439727.1_5'UTR			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	264										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		AGAACTTCCTCCAAAGATACT	0.403																																						dbGAP											0													70.0	52.0	57.0					14																	31858176		692	1591	2283	-	-	-	SO:0001583	missense	0			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.790G>A	14.37:g.31858176C>T	ENSP00000374611:p.Glu264Lys		Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E264K	ENST00000389961.3	37	c.790		14	.	.	.	.	.	.	.	.	.	.	C	19.55	3.849489	0.71603	.	.	ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000543095;ENST00000404677	T;T;T;T	0.08008	3.14;3.14;3.14;3.14	5.6	5.6	0.85130	.	0.109084	0.64402	D	0.000007	T	0.13841	0.0335	M	0.68317	2.08	0.51233	D	0.99991	B	0.29612	0.251	B	0.24269	0.052	T	0.01697	-1.1293	10	0.51188	T	0.08	.	19.6017	0.95566	0.0:1.0:0.0:0.0	.	270	B5MC49	.	K	264;264;270;270	ENSP00000374611:E264K;ENSP00000405407:E264K;ENSP00000437968:E270K;ENSP00000384646:E270K	ENSP00000374611:E264K	E	-	1	0	HEATR5A	30927927	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.884000	0.69729	2.629000	0.89072	0.491000	0.48974	GAG	HEATR5A	-	superfamily_ARM-type_fold	ENSG00000129493		0.403	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	HEATR5A	HGNC	protein_coding		58	0.00	0	C	NM_015473		31858176	31858176	-1	no_errors	ENST00000389961	ensembl	human	known	69_37n	missense	48	15.79	9	SNP	1.000	T
HUWE1	10075	genome.wustl.edu	37	X	53631552	53631552	+	Missense_Mutation	SNP	G	G	C			TCGA-LL-A5YN-01A-11D-A28B-09	TCGA-LL-A5YN-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cade5be6-403b-410a-880a-194025f032e7	f064055b-243c-470c-81bf-1213874bc776	g.chrX:53631552G>C	ENST00000342160.3	-	25	3197	c.2740C>G	c.(2740-2742)Cag>Gag	p.Q914E	HUWE1_ENST00000218328.8_Missense_Mutation_p.Q914E|HUWE1_ENST00000262854.6_Missense_Mutation_p.Q914E			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	914					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATTTTTACCTGTCCAACTCTG	0.468																																						dbGAP											0													58.0	52.0	54.0					X																	53631552		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.2740C>G	X.37:g.53631552G>C	ENSP00000340648:p.Gln914Glu		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.Q914E	ENST00000342160.3	37	c.2740	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425314	0.83667	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.49139	1.08;1.08;0.79	5.29	5.29	0.74685	.	0.160489	0.42821	D	0.000651	T	0.66187	0.2764	L	0.61218	1.895	0.80722	D	1	D	0.64830	0.994	D	0.70716	0.97	T	0.68447	-0.5406	10	0.66056	D	0.02	.	16.6616	0.85242	0.0:0.0:1.0:0.0	.	914	Q7Z6Z7	HUWE1_HUMAN	E	914	ENSP00000340648:Q914E;ENSP00000262854:Q914E;ENSP00000218328:Q914E	ENSP00000218328:Q914E	Q	-	1	0	HUWE1	53648277	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.987000	0.93497	2.458000	0.83093	0.600000	0.82982	CAG	HUWE1	-	NULL	ENSG00000086758		0.468	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	86	0.00	0	G	XM_497119		53631552	53631552	-1	no_errors	ENST00000262854	ensembl	human	known	69_37n	missense	68	15.00	12	SNP	1.000	C
KCNQ4	9132	genome.wustl.edu	37	1	41303380	41303380	+	Missense_Mutation	SNP	C	C	T			TCGA-LL-A5YN-01A-11D-A28B-09	TCGA-LL-A5YN-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cade5be6-403b-410a-880a-194025f032e7	f064055b-243c-470c-81bf-1213874bc776	g.chr1:41303380C>T	ENST00000347132.5	+	13	1871	c.1789C>T	c.(1789-1791)Cgg>Tgg	p.R597W	KCNQ4_ENST00000509682.2_Missense_Mutation_p.R543W|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	597	A-domain (Tetramerization).				inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	CAGGAAGGCCCGGGAGAAGGG	0.637																																						dbGAP											0													37.0	37.0	37.0					1																	41303380		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.1789C>T	1.37:g.41303380C>T	ENSP00000262916:p.Arg597Trp		O96025	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.R597W	ENST00000347132.5	37	c.1789	CCDS456.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.83|16.83	3.232167|3.232167	0.58777|0.58777	.|.	.|.	ENSG00000117013|ENSG00000117013	ENST00000443478|ENST00000347132;ENST00000509682	.|D;D	.|0.99737	.|-6.59;-6.59	4.69|4.69	0.351|0.351	0.16042|0.16042	.|Potassium channel, voltage dependent, KCNQ, C-terminal (1);	.|0.253409	.|0.31697	.|U	.|0.007216	D|D	0.99498|0.99498	0.9821|0.9821	M|M	0.73217|0.73217	2.22|2.22	0.49051|0.49051	D|D	0.99974|0.99974	.|D;D	.|0.89917	.|0.998;1.0	.|D;D	.|0.79784	.|0.921;0.993	D|D	0.98908|0.98908	1.0779|1.0779	5|10	.|0.56958	.|D	.|0.05	-16.2402|-16.2402	13.1821|13.1821	0.59660|0.59660	0.6728:0.3272:0.0:0.0|0.6728:0.3272:0.0:0.0	.|.	.|543;597	.|P56696-2;P56696	.|.;KCNQ4_HUMAN	L|W	457|597;543	.|ENSP00000262916:R597W;ENSP00000423756:R543W	.|ENSP00000262916:R597W	P|R	+|+	2|1	0|2	KCNQ4|KCNQ4	41075967|41075967	0.001000|0.001000	0.12720|0.12720	0.514000|0.514000	0.27761|0.27761	0.911000|0.911000	0.54048|0.54048	-0.077000|-0.077000	0.11394|0.11394	-0.212000|-0.212000	0.10109|0.10109	-0.475000|-0.475000	0.04921|0.04921	CCG|CGG	KCNQ4	-	pfam_K_chnl_volt-dep_KCNQ_C	ENSG00000117013		0.637	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KCNQ4	HGNC	protein_coding	OTTHUMT00000020812.1	47	0.00	0	C	NM_004700		41303380	41303380	+1	no_errors	ENST00000347132	ensembl	human	known	69_37n	missense	34	10.26	4	SNP	0.482	T
MC1R	4157	genome.wustl.edu	37	16	89981311	89981311	+	5'Flank	SNP	C	C	G	rs570661257	byFrequency	TCGA-LL-A5YN-01A-11D-A28B-09	TCGA-LL-A5YN-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cade5be6-403b-410a-880a-194025f032e7	f064055b-243c-470c-81bf-1213874bc776	g.chr16:89981311C>G	ENST00000555147.1	+	0	0				MC1R_ENST00000555427.1_5'UTR|RP11-566K11.7_ENST00000570217.1_RNA	NM_002386.3	NP_002377.4	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)		gtgtgtgtgcctgtgtgtgtg	0.527									Melanoma, Familial Clustering of																													dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_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			16.37:g.89981311C>G	Exception_encountered		Q66K38|Q6UR93|Q8WWX6|Q8WWX7|Q96I33|Q96RU4|Q9UBF7|Q9UN58|Q9UN59|Q9UN60|Q9UN61|Q9UN62	RNA	SNP	-	NULL	ENST00000555147.1	37	NULL	CCDS56011.1	16																																																																																			MC1R	-	-	ENSG00000258839		0.527	MC1R-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	MC1R	HGNC	protein_coding	OTTHUMT00000412014.1	84	0.00	0	C	NM_002386		89981311	89981311	+1	no_errors	ENST00000539976	ensembl	human	known	69_37n	rna	31	18.42	7	SNP	0.992	G
MRVI1	10335	genome.wustl.edu	37	11	10615473	10615473	+	Intron	SNP	C	C	T	rs7126245	byFrequency	TCGA-LL-A5YN-01A-11D-A28B-09	TCGA-LL-A5YN-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cade5be6-403b-410a-880a-194025f032e7	f064055b-243c-470c-81bf-1213874bc776	g.chr11:10615473C>T	ENST00000436272.1	-	15	2065				MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000531107.1_Intron|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000424001.1_Intron|MRVI1_ENST00000541483.1_Intron|MRVI1-AS1_ENST00000525578.1_RNA|MRVI1_ENST00000547195.1_Intron|MRVI1_ENST00000552103.1_Intron|MRVI1_ENST00000527509.2_Intron|MRVI1_ENST00000558540.1_Intron|MRVI1_ENST00000534266.2_Intron|MRVI1_ENST00000545852.1_Intron|MRVI1_ENST00000421747.1_Intron|MRVI1_ENST00000423302.2_Intron|LYVE1_ENST00000531706.1_Intron			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog						blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CTTATGATCACTTCATGTTCA	0.418													T|||	3098	0.61861	0.671	0.6527	5008	,	,		21820	0.7163		0.5388	False		,,,				2504	0.5051					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.1986+219G>A	11.37:g.10615473C>T			B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	RNA	SNP	-	NULL	ENST00000436272.1	37	NULL		11																																																																																			MRVI1-AS1	-	-	ENSG00000177112		0.418	MRVI1-203	KNOWN	basic	protein_coding	MRVI1-AS1	HGNC	protein_coding		9	0.00	0	C	NM_001098579		10615473	10615473	+1	no_errors	ENST00000525578	ensembl	human	known	69_37n	rna	5	44.44	4	SNP	0.231	T
MYBPH	4608	genome.wustl.edu	37	1	203140613	203140613	+	Missense_Mutation	SNP	G	G	A			TCGA-LL-A5YN-01A-11D-A28B-09	TCGA-LL-A5YN-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cade5be6-403b-410a-880a-194025f032e7	f064055b-243c-470c-81bf-1213874bc776	g.chr1:203140613G>A	ENST00000255416.4	-	5	748	c.691C>T	c.(691-693)Ctc>Ttc	p.L231F		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	231	Ig-like C2-type 1.				cell adhesion (GO:0007155)|regulation of striated muscle contraction (GO:0006942)	myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		CGAATGAAGAGGATGGAGTCC	0.642																																					NSCLC(32;174 1025 14462 23899 42933)	dbGAP											0													70.0	66.0	67.0					1																	203140613		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC044226	CCDS30975.1	1q32.1	2013-02-11	2001-11-28		ENSG00000133055	ENSG00000133055		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7552	protein-coding gene	gene with protein product		160795	"""myosin-binding protein H"""			8486381	Standard	NM_004997		Approved		uc001gzh.1	Q13203	OTTHUMG00000042121	ENST00000255416.4:c.691C>T	1.37:g.203140613G>A	ENSP00000255416:p.Leu231Phe		Q16886|Q86YC5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L231F	ENST00000255416.4	37	c.691	CCDS30975.1	1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724890	0.48833	.	.	ENSG00000133055	ENST00000255416	T	0.72615	-0.67	4.62	4.62	0.57501	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.48286	D	0.000191	T	0.72566	0.3476	M	0.66506	2.035	0.33369	D	0.57333	B	0.27971	0.196	B	0.42214	0.38	T	0.75814	-0.3185	10	0.32370	T	0.25	.	9.1697	0.37074	0.1338:0.0:0.8662:0.0	.	231	Q13203	MYBPH_HUMAN	F	231	ENSP00000255416:L231F	ENSP00000255416:L231F	L	-	1	0	MYBPH	201407236	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.086000	0.50159	2.554000	0.86153	0.561000	0.74099	CTC	MYBPH	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000133055		0.642	MYBPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPH	HGNC	protein_coding	OTTHUMT00000100264.1	114	0.00	0	G	NM_004997		203140613	203140613	-1	no_errors	ENST00000255416	ensembl	human	known	69_37n	missense	56	18.84	13	SNP	1.000	A
OR13A1	79290	genome.wustl.edu	37	10	45799522	45799522	+	Missense_Mutation	SNP	C	C	T			TCGA-LL-A5YN-01A-11D-A28B-09	TCGA-LL-A5YN-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cade5be6-403b-410a-880a-194025f032e7	f064055b-243c-470c-81bf-1213874bc776	g.chr10:45799522C>T	ENST00000553795.1	-	4	657	c.349G>A	c.(349-351)Gcc>Acc	p.A117T	OR13A1_ENST00000536058.1_Missense_Mutation_p.A117T|OR13A1_ENST00000374401.2_Missense_Mutation_p.A117T	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TAGAGCTGGGCCATGCAGCCC	0.587																																						dbGAP											0													50.0	43.0	45.0					10																	45799522		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"""GPCR / Class A : Olfactory receptors"""	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.349G>A	10.37:g.45799522C>T	ENSP00000451950:p.Ala117Thr		Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.A117T	ENST00000553795.1	37	c.349	CCDS31188.1	10	.	.	.	.	.	.	.	.	.	.	c	8.141	0.785207	0.16189	.	.	ENSG00000256574	ENST00000553795;ENST00000536058;ENST00000374401	T;T;T	0.03004	4.08;4.08;4.08	5.58	-1.27	0.09347	GPCR, rhodopsin-like superfamily (1);	0.706306	0.12200	N	0.490333	T	0.01454	0.0047	N	0.05012	-0.13	0.09310	N	0.999999	B	0.10296	0.003	B	0.15870	0.014	T	0.47661	-0.9100	10	0.02654	T	1	-14.6441	5.8311	0.18581	0.126:0.4051:0.0:0.4689	.	117	Q8NGR1	O13A1_HUMAN	T	117	ENSP00000451950:A117T;ENSP00000438657:A117T;ENSP00000363522:A117T	ENSP00000311379:A117T	A	-	1	0	OR13A1	45119528	0.000000	0.05858	0.977000	0.42913	0.900000	0.52787	-0.702000	0.05069	-0.024000	0.13941	-0.143000	0.13931	GCC	OR13A1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000256574		0.587	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OR13A1	HGNC	protein_coding	OTTHUMT00000047779.2	36	0.00	0	C	NM_001004297		45799522	45799522	-1	no_errors	ENST00000374401	ensembl	human	known	69_37n	missense	23	14.81	4	SNP	0.006	T
OR4K5	79317	genome.wustl.edu	37	14	20388956	20388956	+	Missense_Mutation	SNP	G	G	A			TCGA-LL-A5YN-01A-11D-A28B-09	TCGA-LL-A5YN-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cade5be6-403b-410a-880a-194025f032e7	f064055b-243c-470c-81bf-1213874bc776	g.chr14:20388956G>A	ENST00000315915.4	+	1	216	c.191G>A	c.(190-192)gGa>gAa	p.G64E		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTCTCTTGGGAAACCTTTCC	0.433																																						dbGAP											0													252.0	267.0	262.0					14																	20388956		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.191G>A	14.37:g.20388956G>A	ENSP00000319511:p.Gly64Glu		Q6IFA7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.G64E	ENST00000315915.4	37	c.191	CCDS32024.1	14	.	.	.	.	.	.	.	.	.	.	.	13.96	2.394019	0.42410	.	.	ENSG00000176281	ENST00000315915	T	0.04360	3.64	4.31	1.08	0.20341	GPCR, rhodopsin-like superfamily (1);	0.146214	0.31051	N	0.008349	T	0.12050	0.0293	M	0.80422	2.495	0.09310	N	1	P	0.48503	0.911	P	0.48030	0.564	T	0.08351	-1.0726	10	0.87932	D	0	.	13.1757	0.59626	0.0:0.4601:0.5399:0.0	.	64	Q8NGD3	OR4K5_HUMAN	E	64	ENSP00000319511:G64E	ENSP00000319511:G64E	G	+	2	0	OR4K5	19458796	0.000000	0.05858	0.346000	0.25655	0.786000	0.44442	-0.079000	0.11357	0.389000	0.25086	0.655000	0.94253	GGA	OR4K5	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000176281		0.433	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K5	HGNC	protein_coding	OTTHUMT00000409867.1	50	0.00	0	G	NM_001005483		20388956	20388956	+1	no_errors	ENST00000315915	ensembl	human	known	69_37n	missense	66	17.50	14	SNP	0.010	A
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-LL-A5YN-01A-11D-A28B-09	TCGA-LL-A5YN-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cade5be6-403b-410a-880a-194025f032e7	f064055b-243c-470c-81bf-1213874bc776	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	23	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	14	30.00	6	SNP	1.000	G
POM121L2	94026	genome.wustl.edu	37	6	27277998	27277998	+	Missense_Mutation	SNP	G	G	A			TCGA-LL-A5YN-01A-11D-A28B-09	TCGA-LL-A5YN-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cade5be6-403b-410a-880a-194025f032e7	f064055b-243c-470c-81bf-1213874bc776	g.chr6:27277998G>A	ENST00000444565.1	-	1	1951	c.1952C>T	c.(1951-1953)gCc>gTc	p.A651V	POM121L2_ENST00000377451.2_Missense_Mutation_p.A587V	NM_033482.3	NP_258443.2	Q96KW2	P12L2_HUMAN	POM121 transmembrane nucleoporin-like 2	651										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	7						GTTGCCTACGGCACTGGTGAC	0.517																																						dbGAP											0													70.0	63.0	65.0					6																	27277998		692	1591	2283	-	-	-	SO:0001583	missense	0			AL021808	CCDS59497.1	6p21.3	2012-03-13	2012-03-13		ENSG00000158553	ENSG00000158553			13973	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 2 (rat)"", ""POM121 membrane glycoprotein-like 2"""				Standard	NM_033482		Approved	POM121-L	uc011dku.1	Q96KW2	OTTHUMG00000014475	ENST00000444565.1:c.1952C>T	6.37:g.27277998G>A	ENSP00000392726:p.Ala651Val		C9J1I7	Missense_Mutation	SNP	NULL	p.A651V	ENST00000444565.1	37	c.1952	CCDS59497.1	6	.	.	.	.	.	.	.	.	.	.	G	0.520	-0.862754	0.02610	.	.	ENSG00000158553	ENST00000377451;ENST00000444565	T;T	0.16597	2.33;2.34	4.11	3.24	0.37175	.	0.733687	0.11152	N	0.593964	T	0.03477	0.0100	N	0.19112	0.55	0.09310	N	1	P	0.36909	0.573	B	0.36666	0.23	T	0.37009	-0.9724	10	0.19147	T	0.46	.	7.887	0.29656	0.1111:0.0:0.8889:0.0	.	651	C9J1I7	.	V	587;651	ENSP00000366671:A587V;ENSP00000392726:A651V	ENSP00000366671:A587V	A	-	2	0	POM121L2	27385977	0.051000	0.20477	0.002000	0.10522	0.010000	0.07245	1.807000	0.38902	1.331000	0.45412	0.484000	0.47621	GCC	POM121L2	-	NULL	ENSG00000158553		0.517	POM121L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POM121L2	HGNC	protein_coding	OTTHUMT00000040143.2	48	0.00	0	G	NM_033482		27277998	27277998	-1	no_errors	ENST00000444565	ensembl	human	known	69_37n	missense	38	19.15	9	SNP	0.002	A
PPP1R10	5514	genome.wustl.edu	37	6	30570058	30570058	+	Missense_Mutation	SNP	T	T	G			TCGA-LL-A5YN-01A-11D-A28B-09	TCGA-LL-A5YN-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cade5be6-403b-410a-880a-194025f032e7	f064055b-243c-470c-81bf-1213874bc776	g.chr6:30570058T>G	ENST00000376511.2	-	19	2920	c.2368A>C	c.(2368-2370)Agc>Cgc	p.S790R		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	790	Gly-rich.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						CCACCCATGCTACCACCAGGG	0.672																																						dbGAP											0													160.0	168.0	165.0					6																	30570058		1511	2709	4220	-	-	-	SO:0001583	missense	0			Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.2368A>C	6.37:g.30570058T>G	ENSP00000365694:p.Ser790Arg		O00405	Missense_Mutation	SNP	pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH	p.S790R	ENST00000376511.2	37	c.2368	CCDS4681.1	6	.	.	.	.	.	.	.	.	.	.	T	8.397	0.841132	0.16891	.	.	ENSG00000204569	ENST00000376511	T	0.39997	1.05	3.09	-1.96	0.07525	.	0.817488	0.10022	U	0.725811	T	0.06554	0.0168	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.09377	0.004	T	0.41752	-0.9491	10	0.16896	T	0.51	0.3615	9.2768	0.37705	0.0:0.6962:0.0:0.3038	.	790	Q96QC0	PP1RA_HUMAN	R	790	ENSP00000365694:S790R	ENSP00000365694:S790R	S	-	1	0	PPP1R10	30678037	0.000000	0.05858	0.067000	0.19924	0.861000	0.49209	0.089000	0.15002	-0.263000	0.09378	0.402000	0.26972	AGC	PPP1R10	-	NULL	ENSG00000204569		0.672	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R10	HGNC	protein_coding	OTTHUMT00000076556.2	67	0.00	0	T	NM_002714		30570058	30570058	-1	no_errors	ENST00000376511	ensembl	human	known	69_37n	missense	60	22.08	17	SNP	0.340	G
PZP	5858	genome.wustl.edu	37	12	9304857	9304857	+	Missense_Mutation	SNP	T	T	A			TCGA-LL-A5YN-01A-11D-A28B-09	TCGA-LL-A5YN-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cade5be6-403b-410a-880a-194025f032e7	f064055b-243c-470c-81bf-1213874bc776	g.chr12:9304857T>A	ENST00000261336.2	-	32	4199	c.4171A>T	c.(4171-4173)Atg>Ttg	p.M1391L	PZP_ENST00000381997.2_Missense_Mutation_p.M1177L	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1391					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CCAGATACCATCTTTACATCA	0.358																																					Melanoma(125;1402 1695 4685 34487 38571)	dbGAP											0													128.0	124.0	125.0					12																	9304857		2203	4300	6503	-	-	-	SO:0001583	missense	0			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.4171A>T	12.37:g.9304857T>A	ENSP00000261336:p.Met1391Leu		A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.M1391L	ENST00000261336.2	37	c.4171	CCDS8600.1	12	.	.	.	.	.	.	.	.	.	.	T	16.02	3.003913	0.54254	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.18960	2.18;2.18	3.5	3.5	0.40072	Alpha-macroglobulin, receptor-binding (3);	0.070349	0.52532	U	0.000062	T	0.35799	0.0944	L	0.52905	1.665	0.23150	N	0.998211	B;D	0.54964	0.233;0.969	B;P	0.61201	0.254;0.885	T	0.06643	-1.0815	10	0.48119	T	0.1	.	12.3747	0.55273	0.0:0.0:0.0:1.0	.	1177;1391	P20742-2;P20742	.;PZP_HUMAN	L	1391;1177	ENSP00000261336:M1391L;ENSP00000371427:M1177L	ENSP00000261336:M1391L	M	-	1	0	PZP	9196124	0.998000	0.40836	0.970000	0.41538	0.845000	0.48019	1.426000	0.34870	1.541000	0.49316	0.460000	0.39030	ATG	PZP	-	pfam_A-macroglobulin_rcpt-bd,superfamily_A-macroglobulin_rcpt-bd	ENSG00000126838		0.358	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PZP	HGNC	protein_coding	OTTHUMT00000337624.1	65	0.00	0	T	NM_002864		9304857	9304857	-1	no_errors	ENST00000261336	ensembl	human	known	69_37n	missense	39	27.78	15	SNP	1.000	A
RCN1	5954	genome.wustl.edu	37	11	32112870	32112870	+	Missense_Mutation	SNP	C	C	T			TCGA-LL-A5YN-01A-11D-A28B-09	TCGA-LL-A5YN-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cade5be6-403b-410a-880a-194025f032e7	f064055b-243c-470c-81bf-1213874bc776	g.chr11:32112870C>T	ENST00000054950.3	+	1	421	c.128C>T	c.(127-129)tCg>tTg	p.S43L	RCN1_ENST00000532942.1_Intron	NM_002901.2	NP_002892.1	Q15293	RCN1_HUMAN	reticulocalbin 1, EF-hand calcium binding domain	43					camera-type eye development (GO:0043010)|in utero embryonic development (GO:0001701)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					CGGCCCGACTCGGAGCTGGGC	0.697																																						dbGAP											0													7.0	7.0	7.0					11																	32112870		1883	3673	5556	-	-	-	SO:0001583	missense	0			D42073	CCDS7876.1	11p13	2013-01-10			ENSG00000049449	ENSG00000049449		"""EF-hand domain containing"""	9934	protein-coding gene	gene with protein product	"""proliferation-inducing gene 20"""	602735		RCN		9192846, 8586628	Standard	NM_002901		Approved	Rcal, PIG20, FLJ37041	uc010reb.2	Q15293		ENST00000054950.3:c.128C>T	11.37:g.32112870C>T	ENSP00000054950:p.Ser43Leu		B7Z1M1|D3DR00	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.S43L	ENST00000054950.3	37	c.128	CCDS7876.1	11	.	.	.	.	.	.	.	.	.	.	c	12.35	1.910969	0.33721	.	.	ENSG00000049449	ENST00000054950;ENST00000400416	T	0.49432	0.78	3.66	3.66	0.41972	.	0.527053	0.17712	U	0.164549	T	0.34019	0.0883	N	0.22421	0.69	0.24747	N	0.99301	B	0.15719	0.014	B	0.11329	0.006	T	0.11743	-1.0575	10	0.22109	T	0.4	-0.7525	15.184	0.72986	0.0:1.0:0.0:0.0	.	43	Q15293	RCN1_HUMAN	L	43	ENSP00000054950:S43L	ENSP00000054950:S43L	S	+	2	0	RCN1	32069446	0.957000	0.32711	1.000000	0.80357	0.647000	0.38526	1.624000	0.37018	1.880000	0.54463	0.187000	0.17357	TCG	RCN1	-	NULL	ENSG00000049449		0.697	RCN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RCN1	HGNC	protein_coding	OTTHUMT00000388510.1	63	0.00	0	C	NM_002901		32112870	32112870	+1	no_errors	ENST00000054950	ensembl	human	known	69_37n	missense	32	60.00	48	SNP	0.999	T
RGPD3	653489	genome.wustl.edu	37	2	107069189	107069189	+	Missense_Mutation	SNP	C	C	T	rs201015394	byFrequency	TCGA-LL-A5YN-01A-11D-A28B-09	TCGA-LL-A5YN-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cade5be6-403b-410a-880a-194025f032e7	f064055b-243c-470c-81bf-1213874bc776	g.chr2:107069189C>T	ENST00000409886.3	-	5	686	c.599G>A	c.(598-600)aGt>aAt	p.S200N	RGPD3_ENST00000304514.7_Missense_Mutation_p.S200N	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	200					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CCACTCTAAACTTGAACGCAA	0.428																																						dbGAP											0													1.0	1.0	1.0					2																	107069189		118	219	337	-	-	-	SO:0001583	missense	0				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.599G>A	2.37:g.107069189C>T	ENSP00000386588:p.Ser200Asn		B8ZZM4	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.S200N	ENST00000409886.3	37	c.599	CCDS46379.1	2	.	.	.	.	.	.	.	.	.	.	.	5.291	0.239086	0.10023	.	.	ENSG00000153165	ENST00000409886;ENST00000304514;ENST00000440524	T;T	0.30981	1.51;1.51	2.69	0.78	0.18556	.	.	.	.	.	T	0.26774	0.0655	L	0.56769	1.78	0.21697	N	0.999582	B	0.02656	0.0	B	0.04013	0.001	T	0.28808	-1.0032	9	0.59425	D	0.04	-9.442	5.2022	0.15271	0.0:0.5646:0.0:0.4354	.	200	A6NKT7	RGPD3_HUMAN	N	200;200;143	ENSP00000386588:S200N;ENSP00000303659:S200N	ENSP00000303659:S200N	S	-	2	0	RGPD3	106435621	1.000000	0.71417	0.997000	0.53966	0.229000	0.25112	2.169000	0.42434	0.042000	0.15717	0.186000	0.17326	AGT	RGPD3	-	NULL	ENSG00000153165		0.428	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD3	HGNC	protein_coding	OTTHUMT00000329975.1	15	0.00	0	C	XM_929931		107069189	107069189	-1	no_errors	ENST00000304514	ensembl	human	known	69_37n	missense	30	38.78	19	SNP	0.985	T
RTN4R	65078	genome.wustl.edu	37	22	20230090	20230090	+	Missense_Mutation	SNP	C	C	A			TCGA-LL-A5YN-01A-11D-A28B-09	TCGA-LL-A5YN-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cade5be6-403b-410a-880a-194025f032e7	f064055b-243c-470c-81bf-1213874bc776	g.chr22:20230090C>A	ENST00000043402.7	-	2	1004	c.566G>T	c.(565-567)cGc>cTc	p.R189L	RTN4R_ENST00000469601.1_5'Flank	NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	189					axonogenesis (GO:0007409)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					GCTGGAGATGCGGTTGCCGTG	0.652																																						dbGAP											0													86.0	81.0	83.0					22																	20230090		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF283463	CCDS13777.1	22q11	2008-05-02			ENSG00000040608	ENSG00000040608			18601	protein-coding gene	gene with protein product		605566				11201742	Standard	NM_023004		Approved	NOGOR	uc002zrv.3	Q9BZR6	OTTHUMG00000150572	ENST00000043402.7:c.566G>T	22.37:g.20230090C>A	ENSP00000043402:p.Arg189Leu		D3DX28	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.R189L	ENST00000043402.7	37	c.566	CCDS13777.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.61|13.61	2.287471|2.287471	0.40494|0.40494	.|.	.|.	ENSG00000040608|ENSG00000040608	ENST00000416372;ENST00000425986|ENST00000043402	.|T	.|0.57752	.|0.38	4.1|4.1	3.08|3.08	0.35506|0.35506	.|.	.|0.225655	.|0.23005	.|N	.|0.053024	T|T	0.31765|0.31765	0.0807|0.0807	N|N	0.15975|0.15975	0.35|0.35	0.28471|0.28471	N|N	0.915417|0.915417	.|B	.|0.29136	.|0.234	.|B	.|0.28916	.|0.096	T|T	0.21965|0.21965	-1.0230|-1.0230	5|10	.|0.56958	.|D	.|0.05	.|.	6.2019|6.2019	0.20581|0.20581	0.0:0.7742:0.0:0.2257|0.0:0.7742:0.0:0.2257	.|.	.|189	.|Q9BZR6	.|RTN4R_HUMAN	S|L	209;275|189	.|ENSP00000043402:R189L	.|ENSP00000043402:R189L	A|R	-|-	1|2	0|0	RTN4R|RTN4R	18610090|18610090	0.000000|0.000000	0.05858|0.05858	0.993000|0.993000	0.49108|0.49108	0.940000|0.940000	0.58332|0.58332	-0.351000|-0.351000	0.07711|0.07711	1.075000|1.075000	0.40932|0.40932	0.561000|0.561000	0.74099|0.74099	GCA|CGC	RTN4R	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000040608		0.652	RTN4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTN4R	HGNC	protein_coding	OTTHUMT00000318950.2	171	0.00	0	C			20230090	20230090	-1	no_errors	ENST00000043402	ensembl	human	known	69_37n	missense	56	26.32	20	SNP	0.852	A
RWDD2B	10069	genome.wustl.edu	37	21	30391545	30391545	+	Silent	SNP	C	C	G			TCGA-LL-A5YN-01A-11D-A28B-09	TCGA-LL-A5YN-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cade5be6-403b-410a-880a-194025f032e7	f064055b-243c-470c-81bf-1213874bc776	g.chr21:30391545C>G	ENST00000493196.1	-	1	154	c.54G>C	c.(52-54)ggG>ggC	p.G18G	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	18										endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						GAGCCGTGGCCCCCTCACTGC	0.582																																						dbGAP											0													60.0	50.0	53.0					21																	30391545		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF212232	CCDS13582.1	21q22.11	2012-12-07	2007-07-17	2007-07-17	ENSG00000156253	ENSG00000156253			1302	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 6"""	C21orf6		10729227	Standard	NM_016940		Approved	GL011	uc002yms.3	P57060	OTTHUMG00000078805	ENST00000493196.1:c.54G>C	21.37:g.30391545C>G				Silent	SNP	pfam_DUF1115,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pirsf_UCP038021_RWD,pfscan_RWD-domain	p.G18	ENST00000493196.1	37	c.54	CCDS13582.1	21																																																																																			RWDD2B	-	NULL	ENSG00000156253		0.582	RWDD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RWDD2B	HGNC	protein_coding	OTTHUMT00000171858.1	83	0.00	0	C			30391545	30391545	-1	no_errors	ENST00000493196	ensembl	human	known	69_37n	silent	28	12.50	4	SNP	0.000	G
TBX18	9096	genome.wustl.edu	37	6	85453997	85453997	+	Missense_Mutation	SNP	C	C	A			TCGA-LL-A5YN-01A-11D-A28B-09	TCGA-LL-A5YN-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cade5be6-403b-410a-880a-194025f032e7	f064055b-243c-470c-81bf-1213874bc776	g.chr6:85453997C>A	ENST00000369663.5	-	6	1323	c.986G>T	c.(985-987)cGa>cTa	p.R329L	TBX18_ENST00000606521.1_5'UTR|TBX18_ENST00000606784.1_Missense_Mutation_p.R171L	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	329					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CCCGGAGTCTCGGAAGCCTTT	0.348																																						dbGAP											0													47.0	47.0	47.0					6																	85453997		2203	4299	6502	-	-	-	SO:0001583	missense	0			AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.986G>T	6.37:g.85453997C>A	ENSP00000358677:p.Arg329Leu		A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.R329L	ENST00000369663.5	37	c.986	CCDS34495.1	6	.	.	.	.	.	.	.	.	.	.	C	35	5.493740	0.96339	.	.	ENSG00000112837	ENST00000416980;ENST00000369663	D	0.90261	-2.64	5.92	5.92	0.95590	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.94384	0.8194	M	0.73962	2.25	0.80722	D	1	D;D	0.69078	0.997;0.997	D;P	0.65233	0.933;0.867	D	0.92994	0.6417	10	0.46703	T	0.11	.	20.3213	0.98679	0.0:1.0:0.0:0.0	.	245;329	Q8IW86;O95935	.;TBX18_HUMAN	L	244;329	ENSP00000358677:R329L	ENSP00000358677:R329L	R	-	2	0	TBX18	85510716	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.487000	0.81328	2.810000	0.96702	0.650000	0.86243	CGA	TBX18	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	ENSG00000112837		0.348	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX18	HGNC	protein_coding	OTTHUMT00000041378.2	36	0.00	0	C	NM_001080508		85453997	85453997	-1	no_errors	ENST00000369663	ensembl	human	known	69_37n	missense	16	23.81	5	SNP	1.000	A
TLR10	81793	genome.wustl.edu	37	4	38777097	38777097	+	Silent	SNP	G	G	A			TCGA-LL-A5YN-01A-11D-A28B-09	TCGA-LL-A5YN-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cade5be6-403b-410a-880a-194025f032e7	f064055b-243c-470c-81bf-1213874bc776	g.chr4:38777097G>A	ENST00000308973.4	-	4	720	c.115C>T	c.(115-117)Cta>Tta	p.L39L	TLR10_ENST00000361424.2_Silent_p.L39L|TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000506111.1_Silent_p.L39L|TLR10_ENST00000508334.1_Silent_p.L39L	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	39					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						ACCTTTCTTAGAGACATGTTG	0.433																																						dbGAP											0													94.0	85.0	88.0					4																	38777097		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.115C>T	4.37:g.38777097G>A			A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Silent	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.L39	ENST00000308973.4	37	c.115	CCDS3445.1	4																																																																																			TLR10	-	pirsf_Toll-like_receptor	ENSG00000174123		0.433	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR10	HGNC	protein_coding	OTTHUMT00000250430.1	55	0.00	0	G			38777097	38777097	-1	no_errors	ENST00000308973	ensembl	human	known	69_37n	silent	51	21.54	14	SNP	0.377	A
TPTE2	93492	genome.wustl.edu	37	13	20048214	20048214	+	Splice_Site	SNP	T	T	G			TCGA-LL-A5YN-01A-11D-A28B-09	TCGA-LL-A5YN-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cade5be6-403b-410a-880a-194025f032e7	f064055b-243c-470c-81bf-1213874bc776	g.chr13:20048214T>G	ENST00000400230.2	-	6	276	c.232A>C	c.(232-234)Ata>Cta	p.I78L	TPTE2_ENST00000382975.4_Splice_Site_p.I78L|TPTE2_ENST00000382977.4_Splice_Site_p.I78L|TPTE2_ENST00000382978.1_Splice_Site_p.I78L|TPTE2_ENST00000255310.6_Splice_Site_p.I41L|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000390680.2_Splice_Site_p.I41L|TPTE2_ENST00000400103.2_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	78					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACTCCAAATATTCTAaaataa	0.303																																						dbGAP											0													28.0	31.0	30.0					13																	20048214		2136	4275	6411	-	-	-	SO:0001630	splice_region_variant	0			AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.231-1A>C	13.37:g.20048214T>G			A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.I78L	ENST00000400230.2	37	c.232	CCDS45014.1	13	.	.	.	.	.	.	.	.	.	.	t	9.403	1.078412	0.20227	.	.	ENSG00000132958	ENST00000382978;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000343548	D;D;D;D;D;D	0.97186	-4.28;-4.28;-3.28;-3.28;-4.28;-4.28	2.33	-0.13	0.13498	.	0.298223	0.31461	U	0.007611	D	0.89581	0.6756	N	0.16833	0.445	0.58432	D	0.999997	B;B	0.06786	0.001;0.001	B;B	0.09377	0.003;0.004	T	0.76708	-0.2860	9	.	.	.	-10.815	4.3041	0.10938	0.0:0.3511:0.0:0.6489	.	41;78	Q6XPS3-3;Q6XPS3	.;TPTE2_HUMAN	L	78;78;41;41;78;78;78	ENSP00000372438:I78L;ENSP00000383089:I78L;ENSP00000255310:I41L;ENSP00000375098:I41L;ENSP00000372437:I78L;ENSP00000372435:I78L	.	I	-	1	0	TPTE2	18946214	0.431000	0.25546	0.608000	0.28969	0.202000	0.24057	-0.453000	0.06778	-0.024000	0.13941	0.338000	0.21704	ATA	TPTE2	-	NULL	ENSG00000132958		0.303	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	TPTE2	HGNC	protein_coding		37	0.00	0	T	NM_199254	Missense_Mutation	20048214	20048214	-1	no_errors	ENST00000382977	ensembl	human	known	69_37n	missense	69	11.54	9	SNP	0.856	G
