#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_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Start_position_hg18	i_TumorRefReads_WU	i_TumorVAF_WU	i_TumorVarReads_WU	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	A	A	G			TCGA-AB-2921-03A-01W-0755-09	TCGA-AB-2921-11A-01W-0755-09	A	A	A	G	A	A	Verified	Invalid:failed_liftOver	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	779697fe-899a-4bfb-a1d3-44a847487b6b	927d14ba-cb7d-4d0d-9294-e328023db1b8	g.chrUnknown:0A>G								None (None upstream) : None (None downstream)																								0.0																																						dbGAP											0			MT																																								651	SO:0001628	intergenic_variant	0																															Unknown.37:g.0A>G		1957	3.57	73		NA	NA	NA	651	551	48.16	524		RNA	SNP	-	NULL		37	NULL		MT																																																																																			-	-	0	0					ENSG00000211459			A			651	+1	no_errors	ENST00000389680	ensembl	human	novel	54_36p	rna	SNP	NULL	G
ZNF275	10838	genome.wustl.edu	37	X	152611033	152611033	+	Silent	SNP	A	A	G			TCGA-AB-2921-03A-01W-0755-09	TCGA-AB-2921-11A-01W-0755-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	779697fe-899a-4bfb-a1d3-44a847487b6b	927d14ba-cb7d-4d0d-9294-e328023db1b8	g.chrX:152611033A>G	ENST00000421401.3	+	3	264	c.87A>G	c.(85-87)ctA>ctG	p.L29L	ZNF275_ENST00000370249.2_5'UTR|ZNF275_ENST00000440091.1_Silent_p.L59L|ZNF275_ENST00000370251.3_Silent_p.L29L			Q9NSD4	ZN275_HUMAN	zinc finger protein 275	29					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GACAAGTGCTACTGGTGTCAG	0.502																																						dbGAP											0			X											98.0	97.0	97.0					X																	152611033		2144	4229	6373	152264227	SO:0001819	synonymous_variant	0			BC041602		Xq28	2013-01-08			ENSG00000063587	ENSG00000063587		"""Zinc fingers, C2H2-type"", ""-"""	13069	protein-coding gene	gene with protein product							Standard	NM_001080485		Approved		uc004fhg.2	Q9NSD4	OTTHUMG00000067450	ENST00000421401.3:c.87A>G	X.37:g.152611033A>G		96	2.97	3		0	100.00	6	152264227	81	43.15	63	A6NE92	Silent	SNP	HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.L85	ENST00000421401.3	37	c.255		X																																																																																			-	HMMSmart_SM00349		0.502	ZNF275-201	KNOWN	basic	protein_coding	ZNF275	protein_coding		A	NM_001080485		152264227	+1	no_errors	NM_001080485.2	genbank	human	validated	54_36p	silent	SNP	0.000	G
PLA2G2D	26279	genome.wustl.edu	37	1	20440642	20440642	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2921-03A-01W-0755-09	TCGA-AB-2921-11A-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	779697fe-899a-4bfb-a1d3-44a847487b6b	927d14ba-cb7d-4d0d-9294-e328023db1b8	g.chr1:20440642G>A	ENST00000375105.3	-	4	461	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W		NM_012400.2	NP_036532.1	Q9UNK4	PA2GD_HUMAN	phospholipase A2, group IID	135					glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			endometrium(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAGTGGGGCCGCCAGTAGAAA	0.612										Multiple Myeloma(11;0.12)																											Melanoma(60;742 1548 31762 39240)	dbGAP											0			1											35.0	36.0	36.0					1																	20440642		2203	4300	6503	20313229	SO:0001583	missense	0			AF112982	CCDS203.1, CCDS72721.1	1p36.12	2008-09-19			ENSG00000117215	ENSG00000117215	3.1.1.4		9033	protein-coding gene	gene with protein product		605630				10455175	Standard	NM_012400		Approved	sPLA2S	uc001bcz.4	Q9UNK4	OTTHUMG00000002701	ENST00000375105.3:c.403C>T	1.37:g.20440642G>A	ENSP00000364246:p.Arg135Trp	58	7.81	5		NA	NA	NA	20313229	43	44.44	36	A8K2Z1|B1AEL9|Q9UK01	Missense_Mutation	SNP	HMMPfam_Phospholip_A2_1,HMMSmart_PA2c,PatternScan_PA2_HIS,PatternScan_PA2_ASP,superfamily_PhospholipaseA2	p.R135W	ENST00000375105.3	37	c.403	CCDS203.1	1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615604	0.46631	.	.	ENSG00000117215	ENST00000375105	T	0.12147	2.71	4.58	1.08	0.20341	Phospholipase A2 (3);	0.188867	0.26510	N	0.023972	T	0.15176	0.0366	M	0.79693	2.465	0.09310	N	1	B	0.33022	0.394	B	0.27608	0.081	T	0.13953	-1.0490	10	0.66056	D	0.02	-31.3348	7.0162	0.24889	0.1018:0.0:0.6679:0.2303	.	135	Q9UNK4	PA2GD_HUMAN	W	135	ENSP00000364246:R135W	ENSP00000364246:R135W	R	-	1	2	PLA2G2D	20313229	0.000000	0.05858	0.072000	0.20136	0.585000	0.36419	-0.270000	0.08584	0.274000	0.22072	0.462000	0.41574	CGG	-	HMMPfam_Phospholip_A2_1,HMMSmart_PA2c,superfamily_PhospholipaseA2		0.612	PLA2G2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G2D	protein_coding	OTTHUMT00000007683.1	G			20313229	-1	no_errors	NM_012400.2	genbank	human	provisional	54_36p	missense	SNP	0.037	A
MAGI3	260425	genome.wustl.edu	37	1	114123202	114123202	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2921-03A-01W-0755-09	TCGA-AB-2921-11A-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	779697fe-899a-4bfb-a1d3-44a847487b6b	927d14ba-cb7d-4d0d-9294-e328023db1b8	g.chr1:114123202G>A	ENST00000307546.9	+	3	547	c.472G>A	c.(472-474)Gtg>Atg	p.V158M	MAGI3_ENST00000486456.1_3'UTR|MAGI3_ENST00000369617.4_Missense_Mutation_p.V158M|MAGI3_ENST00000369615.1_Missense_Mutation_p.V158M|MAGI3_ENST00000369611.4_Missense_Mutation_p.V158M	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	158	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGTACCAGGAGTGGATTATAA	0.368																																						dbGAP											0			1											118.0	118.0	118.0					1																	114123202		2203	4300	6503	113924725	SO:0001583	missense	0			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.472G>A	1.37:g.114123202G>A	ENSP00000304604:p.Val158Met	211	3.17	7		NA	NA	NA	113924725	119	38.34	74	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	HMMPfam_WW,HMMSmart_WW,PatternScan_WW_DOMAIN_1,superfamily_WW_Rsp5_WWP,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,HMMPfam_Guanylate_kin,HMMSmart_GuKc,PatternScan_GUANYLATE_KINASE_1,superfamily_SSF52540	p.V158M	ENST00000307546.9	37	c.472	CCDS44196.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.135864	0.94517	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.70789	0.3264	M	0.92880	3.355	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.77905	-0.2413	10	0.87932	D	0	-16.3033	19.7208	0.96143	0.0:0.0:1.0:0.0	.	158;158;158	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	M	158	ENSP00000358630:V158M;ENSP00000304604:V158M;ENSP00000358628:V158M;ENSP00000358624:V158M	ENSP00000304604:V158M	V	+	1	0	MAGI3	113924725	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.384000	0.97219	2.730000	0.93505	0.650000	0.86243	GTG	-	HMMPfam_Guanylate_kin,HMMSmart_GuKc,PatternScan_GUANYLATE_KINASE_1,superfamily_SSF52540		0.368	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	MAGI3	protein_coding	OTTHUMT00000032429.1	G	NM_152900		113924725	+1	no_errors	NM_152900.1	genbank	human	validated	54_36p	missense	SNP	1.000	A
APOB	338	genome.wustl.edu	37	2	21235446	21235446	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2921-03A-01W-0755-09	TCGA-AB-2921-11A-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	779697fe-899a-4bfb-a1d3-44a847487b6b	927d14ba-cb7d-4d0d-9294-e328023db1b8	g.chr2:21235446C>T	ENST00000233242.1	-	26	4421	c.4294G>A	c.(4294-4296)Gat>Aat	p.D1432N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1432					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATATTCGAATCTAGAAATTTG	0.363																																						dbGAP											0			2											83.0	88.0	87.0					2																	21235446		2201	4300	6501	21088951	SO:0001583	missense	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.4294G>A	2.37:g.21235446C>T	ENSP00000233242:p.Asp1432Asn	198	1.97	4		NA	NA	NA	21088951	139	37.83	87	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	HMMPfam_Vitellogenin_N,HMMSmart_SM00638,HMMPfam_DUF1081,HMMPfam_DUF1943,superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions,superfamily_Lipovitellin-phosvitin complex superhelical domain	p.D1432N	ENST00000233242.1	37	c.4294	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075482	0.36662	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00902	5.56	5.88	2.04	0.26737	.	0.362247	0.26665	N	0.023132	T	0.00998	0.0033	L	0.42245	1.32	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.58645	-0.7600	10	0.25751	T	0.34	.	6.5416	0.22382	0.0:0.5494:0.1342:0.3164	.	1432	P04114	APOB_HUMAN	N	1432	ENSP00000233242:D1432N	ENSP00000233242:D1432N	D	-	1	0	APOB	21088951	0.977000	0.34250	0.994000	0.49952	0.892000	0.51952	0.537000	0.23144	0.377000	0.24735	-0.137000	0.14449	GAT	-	NULL		0.363	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	protein_coding	OTTHUMT00000207571.1	C			21088951	-1	no_errors	NM_000384.2	genbank	human	reviewed	54_36p	missense	SNP	0.542	T
NLRC4	58484	genome.wustl.edu	37	2	32463290	32463290	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2921-03A-01W-0755-09	TCGA-AB-2921-11A-01W-0755-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	779697fe-899a-4bfb-a1d3-44a847487b6b	927d14ba-cb7d-4d0d-9294-e328023db1b8	g.chr2:32463290A>G	ENST00000404025.2	-	7	2920	c.2432T>C	c.(2431-2433)aTa>aCa	p.I811T	NLRC4_ENST00000402280.1_Missense_Mutation_p.I811T|NLRC4_ENST00000360906.5_Missense_Mutation_p.I811T|NLRC4_ENST00000342905.6_Missense_Mutation_p.I146T			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	811					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AGACTTGACTATGTAATCCAT	0.408																																						dbGAP											0			2											166.0	159.0	161.0					2																	32463290		2203	4300	6503	32316794	SO:0001583	missense	0			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.2432T>C	2.37:g.32463290A>G	ENSP00000385090:p.Ile811Thr	177	2.21	4		15	37.50	9	32316794	95	38.65	63	A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	HMMPfam_CARD,HMMPfam_NACHT,superfamily_DEATH domain,superfamily_RNI-like,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.I811T	ENST00000404025.2	37	c.2432	CCDS33174.1	2	.	.	.	.	.	.	.	.	.	.	A	15.54	2.863712	0.51482	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000342905;ENST00000404025	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	4.63	3.47	0.39725	.	0.000000	0.44688	D	0.000425	T	0.46034	0.1372	L	0.56769	1.78	0.31987	N	0.605152	B;B	0.29508	0.22;0.246	B;B	0.29942	0.101;0.109	T	0.57980	-0.7717	9	0.72032	D	0.01	-18.639	7.1611	0.25664	0.8983:0.0:0.1017:0.0	.	146;811	Q9NPP4-2;Q9NPP4	.;NLRC4_HUMAN	T	811;811;146;811	ENSP00000354159:I811T;ENSP00000385428:I811T;ENSP00000339666:I146T;ENSP00000385090:I811T	ENSP00000339666:I146T	I	-	2	0	NLRC4	32316794	0.986000	0.35501	0.868000	0.34077	0.904000	0.53231	2.912000	0.48782	0.914000	0.36822	-0.290000	0.09829	ATA	-	superfamily_RNI-like		0.408	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	NLRC4	protein_coding	OTTHUMT00000325222.2	A	NM_021209		32316794	-1	no_errors	NM_021209.3	genbank	human	validated	54_36p	missense	SNP	0.898	G
GPR128	84873	genome.wustl.edu	37	3	100373941	100373941	+	Missense_Mutation	SNP	G	G	A	rs368926208		TCGA-AB-2921-03A-01W-0755-09	TCGA-AB-2921-11A-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	779697fe-899a-4bfb-a1d3-44a847487b6b	927d14ba-cb7d-4d0d-9294-e328023db1b8	g.chr3:100373941G>A	ENST00000273352.3	+	12	1910	c.1642G>A	c.(1642-1644)Gct>Act	p.A548T	GPR128_ENST00000475887.1_Missense_Mutation_p.A253T|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	548					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						CGCACTCAGCGCTGCACAGCT	0.453																																					Pancreas(87;185 1975 7223 18722)	dbGAP											0			3						G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	166.0	150.0	156.0		1642	4.7	0.8	3		156	0,8600		0,0,4300	no	missense	GPR128	NM_032787.2	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	548/798	100373941	1,13005	2203	4300	6503	101856631	SO:0001583	missense	0			AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1642G>A	3.37:g.100373941G>A	ENSP00000273352:p.Ala548Thr	164	1.80	3		NA	NA	NA	101856631	90	43.29	71	Q14D94|Q86SQ2	Missense_Mutation	SNP	HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2	p.A548T	ENST00000273352.3	37	c.1642	CCDS2938.1	3	.	.	.	.	.	.	.	.	.	.	G	12.52	1.961367	0.34565	2.27E-4	0.0	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.54071	0.59;0.59	5.59	4.69	0.59074	GPCR, family 2-like (1);	0.289256	0.29838	N	0.011076	T	0.70482	0.3229	M	0.89214	3.015	0.29653	N	0.84382	D;P	0.59767	0.986;0.941	P;B	0.57057	0.812;0.233	T	0.73209	-0.4055	10	0.72032	D	0.01	.	11.2079	0.48780	0.0:0.0:0.6272:0.3728	.	253;548	E9PHI0;Q96K78	.;GP128_HUMAN	T	548;253	ENSP00000273352:A548T;ENSP00000419788:A253T	ENSP00000273352:A548T	A	+	1	0	GPR128	101856631	0.979000	0.34478	0.795000	0.32087	0.050000	0.14768	1.546000	0.36179	1.294000	0.44707	0.655000	0.94253	GCT	-	HMMPfam_7tm_2		0.453	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR128	protein_coding	OTTHUMT00000353236.1	G			101856631	+1	no_errors	NM_032787.1	genbank	human	provisional	54_36p	missense	SNP	0.890	A
SYNPO2	171024	genome.wustl.edu	37	4	119952552	119952552	+	Silent	SNP	G	G	A			TCGA-AB-2921-03A-01W-0755-09	TCGA-AB-2921-11A-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	779697fe-899a-4bfb-a1d3-44a847487b6b	927d14ba-cb7d-4d0d-9294-e328023db1b8	g.chr4:119952552G>A	ENST00000429713.2	+	4	2804	c.2622G>A	c.(2620-2622)caG>caA	p.Q874Q	SYNPO2_ENST00000434046.2_Silent_p.Q874Q|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000307142.4_Silent_p.Q874Q	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	874						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAGGAGCTCAGCTCTTTGCTA	0.542																																						dbGAP											0			4											127.0	126.0	126.0					4																	119952552		2203	4300	6503	120172000	SO:0001819	synonymous_variant	0			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.2622G>A	4.37:g.119952552G>A		90	3.19	3		NA	NA	NA	120172000	50	42.05	37	B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Silent	SNP	HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like	p.Q874	ENST00000429713.2	37	c.2622	CCDS47129.1	4	.	.	.	.	.	.	.	.	.	.	G	5.618	0.298770	0.10622	.	.	ENSG00000172403	ENST00000504178	.	.	.	5.76	4.02	0.46733	.	.	.	.	.	T	0.58935	0.2157	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54268	-0.8319	4	.	.	.	-17.4686	8.9288	0.35657	0.2941:0.0:0.7059:0.0	.	.	.	.	T	826	.	.	A	+	1	0	SYNPO2	120172000	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.530000	0.36007	0.772000	0.33382	0.655000	0.94253	GCT	-	NULL		0.542	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	SYNPO2	protein_coding	OTTHUMT00000364020.1	G			120172000	+1	no_errors	NM_133477.1	genbank	human	validated	54_36p	silent	SNP	0.997	A
GPX2	2877	genome.wustl.edu	37	14	65406527	65406527	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2921-03A-01W-0755-09	TCGA-AB-2921-11A-01W-0755-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	779697fe-899a-4bfb-a1d3-44a847487b6b	927d14ba-cb7d-4d0d-9294-e328023db1b8	g.chr14:65406527G>C	ENST00000389614.5	-	2	338	c.252C>G	c.(250-252)aaC>aaG	p.N84K	FNTB_ENST00000447296.2_Intron|CHURC1-FNTB_ENST00000549987.1_Intron|FNTB_ENST00000542227.1_Intron	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN	glutathione peroxidase 2 (gastrointestinal)	84					interaction with symbiont (GO:0051702)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|response to oxidative stress (GO:0006979)|response to symbiotic bacterium (GO:0009609)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|glutathione peroxidase activity (GO:0004602)			large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	ACTTGAGACTGTTCAGGATCT	0.512																																						dbGAP											0			14											61.0	58.0	59.0					14																	65406527		1962	4143	6105	64476280	SO:0001583	missense	0				CCDS41964.1	14q23.3	2012-05-22			ENSG00000176153	ENSG00000176153	1.11.1.9		4554	protein-coding gene	gene with protein product		138319				8428933, 8287691	Standard	NM_002083		Approved	GSHPX-GI	uc021ruq.2	P18283	OTTHUMG00000171677	ENST00000389614.5:c.252C>G	14.37:g.65406527G>C	ENSP00000374265:p.Asn84Lys	171	1.72	3		2	60.00	3	64476280	102	40.80	71	Q6PJ52|Q8WWI7|Q9NRP9	Missense_Mutation	SNP	HMMPfam_GSHPx,PatternScan_GLUTATHIONE_PEROXID_2,superfamily_Thioredoxin-like	p.N84K	ENST00000389614.5	37	c.252	CCDS41964.1	14	.	.	.	.	.	.	.	.	.	.	G	1.593	-0.528652	0.04112	.	.	ENSG00000176153	ENST00000389614;ENST00000557049	T;T	0.21361	2.01;3.8	6.06	3.28	0.37604	Thioredoxin-like fold (2);	0.136921	0.45361	D	0.000368	T	0.11324	0.0276	L	0.31207	0.915	0.80722	D	1	B	0.30634	0.288	B	0.26969	0.075	T	0.09596	-1.0667	10	0.06236	T	0.91	0.7451	8.7318	0.34503	0.2922:0.0:0.7078:0.0	.	84	P18283	GPX2_HUMAN	K	84;28	ENSP00000374265:N84K;ENSP00000451721:N28K	ENSP00000374265:N84K	N	-	3	2	GPX2	64476280	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	1.599000	0.36751	0.462000	0.27095	-0.136000	0.14681	AAC	-	HMMPfam_GSHPx,superfamily_Thioredoxin-like		0.512	GPX2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	GPX2	protein_coding	OTTHUMT00000414708.1	G			64476280	-1	pseudogene	NM_002083.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
EHD2	30846	genome.wustl.edu	37	19	48229440	48229440	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2921-03A-01W-0755-09	TCGA-AB-2921-11A-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	779697fe-899a-4bfb-a1d3-44a847487b6b	927d14ba-cb7d-4d0d-9294-e328023db1b8	g.chr19:48229440C>T	ENST00000263277.3	+	4	1125	c.874C>T	c.(874-876)Cgc>Tgc	p.R292C	EHD2_ENST00000538399.1_Missense_Mutation_p.R156C|CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	292					blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		CGCAGCCTTGCGCAAGCTCAA	0.672																																						dbGAP											0			19											17.0	18.0	17.0					19																	48229440		2201	4296	6497	52921252	SO:0001583	missense	0			AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"""EF-hand domain containing"""	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.874C>T	19.37:g.48229440C>T	ENSP00000263277:p.Arg292Cys	254	4.14	11		6	45.45	5	52921252	107	46.83	96	B2RDH9|B4DNU6|Q96CB6	Missense_Mutation	SNP	HMMSmart_SM00027,HMMPfam_Dynamin_N,PatternScan_EF_HAND_1,superfamily_EF-hand,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.R292C	ENST00000263277.3	37	c.874	CCDS12704.1	19	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361551	0.82353	.	.	ENSG00000024422	ENST00000263277;ENST00000539439;ENST00000540364;ENST00000538399	D;D	0.95656	-3.77;-3.77	3.66	3.66	0.41972	.	0.000000	0.85682	D	0.000000	D	0.97829	0.9287	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98561	1.0641	10	0.87932	D	0	-29.6263	13.284	0.60232	0.0:1.0:0.0:0.0	.	292	Q9NZN4	EHD2_HUMAN	C	292;292;282;156	ENSP00000263277:R292C;ENSP00000439036:R156C	ENSP00000263277:R292C	R	+	1	0	EHD2	52921252	0.999000	0.42202	0.999000	0.59377	0.950000	0.60333	2.004000	0.40854	1.793000	0.52555	0.456000	0.33151	CGC	-	NULL		0.672	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD2	protein_coding	OTTHUMT00000465851.1	C			52921252	+1	no_errors	NM_014601.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
FLT3	2322	genome.wustl.edu	37	13	28608262	28608263	+	In_Frame_Ins	INS	-	-	CATATTCTCTGAAATCAACGTATC			TCGA-AB-2921-03A-01W-0755-09	TCGA-AB-2921-11A-01W-0755-09	-	-	-	CATATTCTCTGAAATCAACGTATC	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	779697fe-899a-4bfb-a1d3-44a847487b6b	927d14ba-cb7d-4d0d-9294-e328023db1b8	g.chr13:28608262_28608263insCATATTCTCTGAAATCAACGTATC	ENST00000241453.7	-	14	1874_1875	c.1793_1794insGATACGTTGATTTCAGAGAATATG	c.(1792-1794)gaa>gaGATACGTTGATTTCAGAGAATATGa	p.598_599insIR*FQRI*	FLT3_ENST00000537084.1_In_Frame_Ins_p.598_599insIR*FQRI*|FLT3_ENST00000380982.4_In_Frame_Ins_p.598_599insIR*FQRI*	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	598					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.597_598>DYVDFREY(1)|p.E598_Y599ins22(1)|p.E598_Y599ins25(1)|p.E598_Y599ins14(1)|p.E598>DMISPEDMK(1)|p.E598_Y599insFYVDFREYE(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGAGATCATATTCATATTCTCT	0.376			"""Mis, O"""		"""AML, ALL"""																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	6	Insertion - In frame(4)|Complex - insertion inframe(2)	haematopoietic_and_lymphoid_tissue(6)	13																																								27506263	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1793_1794insGATACGTTGATTTCAGAGAATATG	13.37:g.28608262_28608263insCATATTCTCTGAAATCAACGTATC	ENSP00000241453:p.Glu598_Tyr599insIleArg*PheGlnArgIle*	NA	NA	NA		NA	NA	NA	27506262	NA	NA	NA	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.YDL599in_frame_insIR*	ENST00000241453.7	37	c.1794_1793	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.376	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506263	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	0.789:0.821	CATATTCTCTGAAATCAACGTATC
