#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_Mutation_Status	i_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
TKTL1	8277	genome.wustl.edu	37	X	153557894	153557894	+	Silent	SNP	C	C	T	rs368262386		TCGA-AB-2988-03A-01D-0739-09	TCGA-AB-2988-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	c46cad3f-6265-4baf-9ee9-fa7394a27373	fe6bea4d-e433-4977-ab67-b7aa610de359	g.chrX:153557894C>T	ENST00000369915.3	+	13	1836	c.1647C>T	c.(1645-1647)gcC>gcT	p.A549A	TKTL1_ENST00000369912.2_Silent_p.A493A|TKTL1_ENST00000217905.7_Silent_p.A289A	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	549					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.A549A(1)		NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCTGCGCAGCCGTCTCCATGG	0.542																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	X						C	,,	1,3834		0,1,1631,571	132.0	121.0	125.0		1629,1479,1647	-7.2	0.0	X		125	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	TKTL1	NM_001145933.1,NM_001145934.1,NM_012253.3	,,	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	,,	543/591,493/541,549/597	153557894	1,10562	2203	4300	6503	153211088	SO:0001819	synonymous_variant	0			X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.1647C>T	X.37:g.153557894C>T		Somatic	602	2.75	17		0	0.00	0	WXS	Illumina HiSeq	Phase_IV	153211088	308	41.11	215	A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Silent	SNP	HMMPfam_Transketolase_N,HMMPfam_Transket_pyr,PatternScan_TRANSKETOLASE_2,HMMPfam_Transketolase_C,superfamily_TK C-terminal domain-like,superfamily_Thiamin diphosphate-binding fold (THDP-binding)	p.A549	ENST00000369915.3	37	c.1647	CCDS35448.1	X																																																																																			-	HMMPfam_Transketolase_C,superfamily_TK C-terminal domain-like		0.542	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TKTL1	protein_coding	OTTHUMT00000058923.1	C	NM_012253		153211088	+1	no_errors	NM_012253.1	genbank	human	validated	54_36p	silent	SNP	0.915	T
GUCA2A	2980	genome.wustl.edu	37	1	42629190	42629190	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2988-03A-01D-0739-09	TCGA-AB-2988-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	c46cad3f-6265-4baf-9ee9-fa7394a27373	fe6bea4d-e433-4977-ab67-b7aa610de359	g.chr1:42629190A>G	ENST00000357001.2	-	2	172	c.167T>C	c.(166-168)tTt>tCt	p.F56S		NM_033553.2	NP_291031.2	Q02747	GUC2A_HUMAN	guanylate cyclase activator 2A (guanylin)	56						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	guanylate cyclase activator activity (GO:0030250)|hormone activity (GO:0005179)	p.F56S(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|pancreas(1)|skin(1)	5	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GATGGGTGCAAAGTTCCTGAG	0.537																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	1											50.0	51.0	51.0					1																	42629190		2203	4300	6503	42401777	SO:0001583	missense	0			X74322	CCDS465.1	1p35-p34	2014-01-30			ENSG00000197273	ENSG00000197273		"""Endogenous ligands"""	4682	protein-coding gene	gene with protein product	"""prepro-guanylin"""	139392		GUCA2		1327879, 7892222	Standard	NM_033553		Approved	STARA	uc001chd.1	Q02747	OTTHUMG00000007023	ENST00000357001.2:c.167T>C	1.37:g.42629190A>G	ENSP00000349493:p.Phe56Ser	Somatic	246	1.20	3		0	0.00	0	WXS	Illumina HiSeq	Phase_IV	42401777	150	42.08	109		Missense_Mutation	SNP	HMMPfam_Guanylin,superfamily_Proguanylin,PatternScan_2FE2S_FER_1	p.F56S	ENST00000357001.2	37	c.167	CCDS465.1	1	.	.	.	.	.	.	.	.	.	.	A	6.428	0.447110	0.12223	.	.	ENSG00000197273	ENST00000357001	T	0.41758	0.99	4.14	-0.937	0.10415	.	1.444430	0.04817	N	0.436311	T	0.28433	0.0703	L	0.36672	1.1	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.12967	-1.0527	10	0.14252	T	0.57	-0.7128	4.1809	0.10374	0.3232:0.4159:0.261:0.0	.	56	Q02747	GUC2A_HUMAN	S	56	ENSP00000349493:F56S	ENSP00000349493:F56S	F	-	2	0	GUCA2A	42401777	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.112000	0.10791	-0.161000	0.10983	0.533000	0.62120	TTT	-	HMMPfam_Guanylin,superfamily_Proguanylin		0.537	GUCA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCA2A	protein_coding	OTTHUMT00000018306.1	A	NM_033553		42401777	-1	no_errors	NM_033553.2	genbank	human	validated	54_36p	missense	SNP	0.000	G
DNMT3A	1788	genome.wustl.edu	37	2	25457161	25457161	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2988-03A-01D-0739-09	TCGA-AB-2988-11A-01D-0739-09	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	c46cad3f-6265-4baf-9ee9-fa7394a27373	fe6bea4d-e433-4977-ab67-b7aa610de359	g.chr2:25457161A>C	ENST00000264709.3	-	23	3063	c.2726T>G	c.(2725-2727)tTt>tGt	p.F909C	DNMT3A_ENST00000321117.5_Missense_Mutation_p.F909C|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000380746.4_Missense_Mutation_p.F720C|DNMT3A_ENST00000402667.1_Missense_Mutation_p.F686C	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	909	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.F909C(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACACACGCAAAATACTCCTT	0.502			"""Mis, F, N, S"""		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	2											73.0	70.0	71.0					2																	25457161		2203	4300	6503	25310665	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2726T>G	2.37:g.25457161A>C	ENSP00000264709:p.Phe909Cys	Somatic	703	2.90	21		54	43.16	41	WXS	Illumina HiSeq	Phase_IV	25310665	329	45.44	274	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.F909C	ENST00000264709.3	37	c.2726	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	A	16.04	3.010343	0.54361	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97209	-4.29;-4.29;-4.29;-4.29	5.55	5.55	0.83447	.	0.100850	0.64402	D	0.000001	D	0.98381	0.9462	M	0.88181	2.935	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.85130	0.997;0.893	D	0.99211	1.0876	10	0.87932	D	0	-3.0294	9.8701	0.41168	0.8475:0.0:0.0:0.1525	.	909;720	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	C	720;909;909;686	ENSP00000370122:F720C;ENSP00000324375:F909C;ENSP00000264709:F909C;ENSP00000384237:F686C	ENSP00000264709:F909C	F	-	2	0	DNMT3A	25310665	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.333000	0.79214	2.098000	0.63641	0.459000	0.35465	TTT	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.502	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	A	NM_022552		25310665	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
SLC17A3	10786	genome.wustl.edu	37	6	25850330	25850330	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2988-03A-01D-0739-09	TCGA-AB-2988-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	c46cad3f-6265-4baf-9ee9-fa7394a27373	fe6bea4d-e433-4977-ab67-b7aa610de359	g.chr6:25850330G>A	ENST00000360657.3	-	8	1120	c.835C>T	c.(835-837)Ctt>Ttt	p.L279F	SLC17A3_ENST00000361703.6_Missense_Mutation_p.L279F|SLC17A3_ENST00000397060.4_Missense_Mutation_p.L357F			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	279					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)	p.L279F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						TTGGTTAGAAGGAAATCTGCC	0.398																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	6											80.0	80.0	80.0					6																	25850330		2203	4300	6503	25958309	SO:0001583	missense	0			U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"""Solute carriers"""	10931	protein-coding gene	gene with protein product		611034	"""solute carrier family 17 (sodium phosphate), member 3"""			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.835C>T	6.37:g.25850330G>A	ENSP00000353873:p.Leu279Phe	Somatic	810	3.45	29		0	0.00	0	WXS	Illumina HiSeq	Phase_IV	25958309	762	44.82	619	B7WNJ5|B7Z511|Q8WWC7|Q9H533	Missense_Mutation	SNP	HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter	p.L357F	ENST00000360657.3	37	c.1069	CCDS4566.2	6	.	.	.	.	.	.	.	.	.	.	G	15.15	2.748069	0.49257	.	.	ENSG00000124564	ENST00000397060;ENST00000360657;ENST00000361703	T;T;T	0.59502	0.26;0.26;0.26	4.5	3.63	0.41609	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.44902	D	0.000413	T	0.60805	0.2297	M	0.77486	2.375	0.42351	D	0.992375	P;P	0.49961	0.93;0.924	P;P	0.60415	0.819;0.874	T	0.63175	-0.6696	10	0.42905	T	0.14	.	8.97	0.35901	0.1067:0.0:0.8933:0.0	.	357;279	B7Z511;O00476	.;NPT4_HUMAN	F	357;279;279	ENSP00000380250:L357F;ENSP00000353873:L279F;ENSP00000355307:L279F	ENSP00000353873:L279F	L	-	1	0	SLC17A3	25958309	1.000000	0.71417	0.992000	0.48379	0.624000	0.37722	3.963000	0.56773	1.186000	0.42985	0.650000	0.86243	CTT	-	HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter		0.398	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	SLC17A3	protein_coding	OTTHUMT00000040070.2	G			25958309	-1	no_errors	NM_001098486.1	genbank	human	validated	54_36p	missense	SNP	1.000	A
LRWD1	222229	genome.wustl.edu	37	7	102106693	102106693	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2988-03A-01D-0739-09	TCGA-AB-2988-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	c46cad3f-6265-4baf-9ee9-fa7394a27373	fe6bea4d-e433-4977-ab67-b7aa610de359	g.chr7:102106693C>A	ENST00000292616.5	+	3	560	c.408C>A	c.(406-408)aaC>aaA	p.N136K	ALKBH4_ENST00000292566.3_5'Flank|MIR5090_ENST00000582533.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	136					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)	p.N136K(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						AGGTGGAGAACCTGAATCGGG	0.517																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	7											102.0	87.0	92.0					7																	102106693		2203	4300	6503	101893698	SO:0001583	missense	0			AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"""WD repeat domain containing"""	21769	protein-coding gene	gene with protein product	"""origin recognition complex associated"", ""centromere protein 33"""	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.408C>A	7.37:g.102106693C>A	ENSP00000292616:p.Asn136Lys	Somatic	194	1.02	2		12	61.29	19	WXS	Illumina HiSeq	Phase_IV	101893698	110	46.34	95	A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Missense_Mutation	SNP	HMMPfam_LRR_1,HMMSmart_WD40,HMMSmart_LRR_TYP,superfamily_WD40_like,PatternScan_WD_REPEATS_1,HMMPfam_WD40,superfamily_SSF52058	p.N136K	ENST00000292616.5	37	c.408	CCDS34715.1	7	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941514	0.34283	.	.	ENSG00000161036	ENST00000292616	T	0.60548	0.18	5.0	3.18	0.36537	.	0.834581	0.11529	N	0.554930	T	0.40398	0.1115	N	0.22421	0.69	0.23568	N	0.997395	B	0.17038	0.02	B	0.16722	0.016	T	0.25433	-1.0132	10	0.27785	T	0.31	-12.2877	6.8719	0.24125	0.0:0.7097:0.0:0.2903	.	136	Q9UFC0	LRWD1_HUMAN	K	136	ENSP00000292616:N136K	ENSP00000292616:N136K	N	+	3	2	LRWD1	101893698	0.022000	0.18835	0.790000	0.31976	0.906000	0.53458	0.097000	0.15168	0.682000	0.31407	0.561000	0.74099	AAC	-	superfamily_SSF52058		0.517	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRWD1	protein_coding	OTTHUMT00000349493.1	C	NM_152892		101893698	+1	no_errors	NM_152892.1	genbank	human	provisional	54_36p	missense	SNP	0.923	A
BAAT	570	genome.wustl.edu	37	9	104124840	104124840	+	Missense_Mutation	SNP	G	G	A	rs138094960	byFrequency	TCGA-AB-2988-03A-01D-0739-09	TCGA-AB-2988-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	c46cad3f-6265-4baf-9ee9-fa7394a27373	fe6bea4d-e433-4977-ab67-b7aa610de359	g.chr9:104124840G>A	ENST00000395051.3	-	3	1197	c.1127C>T	c.(1126-1128)aCg>aTg	p.T376M	BAAT_ENST00000259407.2_Missense_Mutation_p.T376M			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	376					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)	p.T376M(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	ATCGTGGGTCGTTGAGGCACA	0.542																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	9						G	MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	190.0	163.0	172.0		1127,1127	-9.2	0.0	9	dbSNP_134	172	0,8600		0,0,4300	no	missense,missense	BAAT	NM_001127610.1,NM_001701.3	81,81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign	376/419,376/419	104124840	2,13004	2203	4300	6503	103164661	SO:0001583	missense	0			L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"""glycine N-choloyltransferase"""	602938	"""bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)"", ""bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"""				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.1127C>T	9.37:g.104124840G>A	ENSP00000378491:p.Thr376Met	Somatic	757	2.57	20		0	0.00	0	WXS	Illumina HiSeq	Phase_IV	103164661	641	48.35	600	Q3B7W9|Q96L31	Missense_Mutation	SNP	HMMPfam_Bile_Hydr_Trans,HMMPfam_BAAT_C,superfamily_SSF53474	p.T376M	ENST00000395051.3	37	c.1127	CCDS6752.1	9	.	.	.	.	.	.	.	.	.	.	G	8.624	0.892078	0.17613	4.54E-4	0.0	ENSG00000136881	ENST00000259407;ENST00000395051	T;T	0.29655	1.56;1.56	4.86	-9.21	0.00678	BAAT/Acyl-CoA thioester hydrolase C-terminal (1);	2.077550	0.01692	N	0.026733	T	0.07458	0.0188	N	0.01352	-0.895	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.20273	-1.0280	10	0.22706	T	0.39	1.7285	0.5166	0.00604	0.2841:0.1284:0.2761:0.3114	.	376	Q14032	BAAT_HUMAN	M	376	ENSP00000259407:T376M;ENSP00000378491:T376M	ENSP00000259407:T376M	T	-	2	0	BAAT	103164661	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.788000	0.01763	-1.289000	0.02375	-0.911000	0.02809	ACG	-	HMMPfam_BAAT_C,superfamily_SSF53474		0.542	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAAT	protein_coding	OTTHUMT00000053433.1	G			103164661	-1	no_errors	NM_001701.1	genbank	human	reviewed	54_36p	missense	SNP	0.000	A
MUC5B	727897	genome.wustl.edu	37	11	1269769	1269769	+	Missense_Mutation	SNP	C	C	A	rs200169119		TCGA-AB-2988-03A-01D-0739-09	TCGA-AB-2988-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	c46cad3f-6265-4baf-9ee9-fa7394a27373	fe6bea4d-e433-4977-ab67-b7aa610de359	g.chr11:1269769C>A	ENST00000529681.1	+	31	11717	c.11659C>A	c.(11659-11661)Cct>Act	p.P3887T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.P3890T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3887	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGCACGCACGCCTCCAGTGTG	0.647																																						dbGAP											0			11											126.0	154.0	145.0					11																	1269769		2120	4214	6334	1226345	SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11659C>A	11.37:g.1269769C>A	ENSP00000436812:p.Pro3887Thr	Somatic	4	20.00	1		0	0.00	0	WXS	Illumina HiSeq	Phase_IV	1226345	8	60.00	12	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_VWD,HMMSmart_SM00216,superfamily_Serine proterase inhibitors,HMMSmart_SM00041,PatternScan_CTCK_1,HMMPfam_Cys_knot,HMMSmart_SM00215,superfamily_PMP inhibitors,HMMPfam_C8,HMMPfam_TIL	p.P3890T	ENST00000529681.1	37	c.11668	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	C	3.256	-0.152126	0.06585	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.33438	1.41;1.58	2.34	1.31	0.21738	.	.	.	.	.	T	0.15696	0.0378	N	0.11560	0.145	0.09310	N	1	B;B	0.22983	0.078;0.044	B;B	0.20384	0.025;0.029	T	0.22626	-1.0211	9	0.87932	D	0	.	6.3541	0.21393	0.2942:0.7058:0.0:0.0	.	4415;3890	A7Y9J9;E9PBJ0	.;.	T	3887;3890;3831;3792	ENSP00000436812:P3887T;ENSP00000415793:P3890T	ENSP00000343037:P3831T	P	+	1	0	MUC5B	1226345	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.285000	0.02791	0.235000	0.21160	0.194000	0.17425	CCT	-	NULL		0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1226345	+1	no_errors	NM_002458.1	genbank	human	validated	54_36p	missense	SNP	0.000	A
MUC5B	727897	genome.wustl.edu	37	11	1272152	1272152	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2988-03A-01D-0739-09	TCGA-AB-2988-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	c46cad3f-6265-4baf-9ee9-fa7394a27373	fe6bea4d-e433-4977-ab67-b7aa610de359	g.chr11:1272152C>T	ENST00000529681.1	+	31	14100	c.14042C>T	c.(14041-14043)aCc>aTc	p.T4681I	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.T4684I	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4681	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ccatcactgaccaccacggcc	0.622																																						dbGAP											0			11											60.0	84.0	76.0					11																	1272152		1982	4091	6073	1228728	SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14042C>T	11.37:g.1272152C>T	ENSP00000436812:p.Thr4681Ile	Somatic	3	0.00	0		0	0.00	0	WXS	Illumina HiSeq	Phase_IV	1228728	0	100.00	1	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_VWD,HMMSmart_SM00216,superfamily_Serine proterase inhibitors,HMMSmart_SM00041,PatternScan_CTCK_1,HMMPfam_Cys_knot,HMMSmart_SM00215,superfamily_PMP inhibitors,HMMPfam_C8,HMMPfam_TIL	p.T4684I	ENST00000529681.1	37	c.14051	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	-	3.830	-0.035905	0.07497	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000535652	T;T	0.18174	2.23;2.42	1.71	1.71	0.24356	.	.	.	.	.	T	0.15262	0.0368	L	0.43152	1.355	0.09310	N	1	B	0.17465	0.022	B	0.19148	0.024	T	0.23154	-1.0196	9	0.87932	D	0	.	8.52	0.33270	0.0:1.0:0.0:0.0	.	4684	E9PBJ0	.	I	4681;4684;4625;454	ENSP00000436812:T4681I;ENSP00000415793:T4684I	ENSP00000343037:T4625I	T	+	2	0	MUC5B	1228728	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-0.860000	0.04272	0.945000	0.37605	0.194000	0.17425	ACC	-	NULL		0.622	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1228728	+1	no_errors	NM_002458.1	genbank	human	validated	54_36p	missense	SNP	0.023	T
SCEL	8796	genome.wustl.edu	37	13	78216863	78216863	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2988-03A-01D-0739-09	TCGA-AB-2988-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	c46cad3f-6265-4baf-9ee9-fa7394a27373	fe6bea4d-e433-4977-ab67-b7aa610de359	g.chr13:78216863T>C	ENST00000349847.3	+	32	2054	c.1970T>C	c.(1969-1971)tTg>tCg	p.L657S	SCEL_ENST00000377246.3_Missense_Mutation_p.L637S|SCEL_ENST00000535157.1_Missense_Mutation_p.L615S	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	657	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)	p.L657S(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		AAGCAGCCTTTGGAAAATCTA	0.328																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	13											95.0	95.0	95.0					13																	78216863		2202	4298	6500	77114864	SO:0001583	missense	0			AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.1970T>C	13.37:g.78216863T>C	ENSP00000302579:p.Leu657Ser	Somatic	467	3.51	17		0	0.00	0	WXS	Illumina HiSeq	Phase_IV	77114864	72	86.18	449	B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1	p.L657S	ENST00000349847.3	37	c.1970	CCDS9459.1	13	.	.	.	.	.	.	.	.	.	.	T	22.3	4.273450	0.80580	.	.	ENSG00000136155	ENST00000535157;ENST00000377246;ENST00000349847	D;D;D	0.83419	-1.72;-1.72;-1.72	5.81	5.81	0.92471	Zinc finger, LIM-type (4);	0.000000	0.46145	D	0.000312	D	0.91784	0.7401	M	0.84433	2.695	0.45791	D	0.998674	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.92976	0.6402	10	0.87932	D	0	-5.2266	15.1388	0.72595	0.0:0.0:0.0:1.0	.	615;637;657	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	S	615;637;657	ENSP00000437895:L615S;ENSP00000366454:L637S;ENSP00000302579:L657S	ENSP00000302579:L657S	L	+	2	0	SCEL	77114864	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.113000	0.71553	2.210000	0.71456	0.533000	0.62120	TTG	-	HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1		0.328	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCEL	protein_coding	OTTHUMT00000045339.2	T	NM_144777		77114864	+1	no_errors	NM_144777.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
ANG	283	genome.wustl.edu	37	14	21161742	21161742	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2988-03A-01D-0739-09	TCGA-AB-2988-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	c46cad3f-6265-4baf-9ee9-fa7394a27373	fe6bea4d-e433-4977-ab67-b7aa610de359	g.chr14:21161742G>A	ENST00000336811.6	+	2	619	c.19G>A	c.(19-21)Gtt>Att	p.V7I	ANG_ENST00000554073.1_Intron|ANG_ENST00000397990.4_Missense_Mutation_p.V7I|RNASE4_ENST00000555835.1_Intron|RNASE4_ENST00000397995.2_Intron|RNASE4_ENST00000555597.1_Intron|RP11-903H12.3_ENST00000554286.1_RNA|AL163636.6_ENST00000553909.1_Missense_Mutation_p.V7I|RNASE4_ENST00000304704.4_5'UTR	NM_001145.4	NP_001136.1	P03950	ANGI_HUMAN	angiogenin, ribonuclease, RNase A family, 5	7					actin filament polymerization (GO:0030041)|activation of phospholipase A2 activity (GO:0032431)|activation of phospholipase C activity (GO:0007202)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|cell communication (GO:0007154)|cell death (GO:0008219)|cell migration (GO:0016477)|diacylglycerol biosynthetic process (GO:0006651)|homeostatic process (GO:0042592)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|placenta development (GO:0001890)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein secretion (GO:0050714)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|RNA phosphodiester bond hydrolysis (GO:0090501)|rRNA transcription (GO:0009303)	angiogenin-PRI complex (GO:0032311)|basal lamina (GO:0005605)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	actin binding (GO:0003779)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|heparin binding (GO:0008201)|peptide binding (GO:0042277)|receptor binding (GO:0005102)|ribonuclease activity (GO:0004540)|rRNA binding (GO:0019843)	p.V7I(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)	5	all_cancers(95;0.00387)	all_cancers(140;0.196)|all_epithelial(140;0.156)	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	OV - Ovarian serous cystadenocarcinoma(311;3.25e-17)|GBM - Glioblastoma multiforme(265;5.56e-07)		GGGCCTGGGCGTTTTGTTGTT	0.552																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	14											215.0	212.0	213.0					14																	21161742		2203	4300	6503	20231582	SO:0001583	missense	0				CCDS9554.1	14q11.1-q11.2	2014-09-17			ENSG00000214274	ENSG00000214274	3.1.27.-	"""Ribonucleases, RNase A"""	483	protein-coding gene	gene with protein product		105850				1978563	Standard	NM_001145		Approved	RNASE5	uc001vxw.4	P03950	OTTHUMG00000029576	ENST00000336811.6:c.19G>A	14.37:g.21161742G>A	ENSP00000336762:p.Val7Ile	Somatic	551	0.90	5		0	0.00	0	WXS	Illumina HiSeq	Phase_IV	20231582	346	47.43	314	Q05CV1|Q53X86|Q6P5T2|Q8WXE7	Missense_Mutation	SNP	HMMPfam_RnaseA,HMMSmart_SM00092,PatternScan_RNASE_PANCREATIC,superfamily_RNase A-like	p.V7I	ENST00000336811.6	37	c.19	CCDS9554.1	14	.	.	.	.	.	.	.	.	.	.	G	1.691	-0.504119	0.04261	.	.	ENSG00000214274	ENST00000336811;ENST00000397990	D;D	0.86769	-2.17;-2.17	4.43	2.61	0.31194	.	455.507000	0.01440	U	0.015057	T	0.77942	0.4206	N	0.19112	0.55	0.09310	N	1	B	0.23591	0.088	B	0.14578	0.011	T	0.62891	-0.6758	10	0.17369	T	0.5	.	6.2192	0.20671	0.0:0.7086:0.1889:0.1025	.	7	P03950	ANGI_HUMAN	I	7	ENSP00000336762:V7I;ENSP00000381077:V7I	ENSP00000336762:V7I	V	+	1	0	ANG	20231582	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.142000	0.16096	0.496000	0.27904	-0.203000	0.12734	GTT	-	NULL		0.552	ANG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANG	protein_coding	OTTHUMT00000073731.3	G	NM_001097577		20231582	+1	no_errors	NM_001097577.2	genbank	human	reviewed	54_36p	missense	SNP	0.001	A
SPTBN5	51332	genome.wustl.edu	37	15	42168393	42168393	+	Silent	SNP	G	G	A			TCGA-AB-2988-03A-01D-0739-09	TCGA-AB-2988-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	c46cad3f-6265-4baf-9ee9-fa7394a27373	fe6bea4d-e433-4977-ab67-b7aa610de359	g.chr15:42168393G>A	ENST00000320955.6	-	21	4268	c.4041C>T	c.(4039-4041)aaC>aaT	p.N1347N		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1347					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)	p.N1347N(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCTGCAGGATGTTTCTGCGCG	0.627																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	15											50.0	55.0	53.0					15																	42168393		2149	4269	6418	39955685	SO:0001819	synonymous_variant	0			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.4041C>T	15.37:g.42168393G>A		Somatic	194	3.48	7		0	0.00	0	WXS	Illumina HiSeq	Phase_IV	39955685	105	49.28	102		Silent	SNP	PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_Spectrin,superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_PH domain-like	p.N1347	ENST00000320955.6	37	c.4041		15																																																																																			-	HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat		0.627	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	protein_coding	OTTHUMT00000420237.1	G	NM_016642		39955685	-1	no_errors	NM_016642.2	genbank	human	validated	54_36p	silent	SNP	0.001	A
PKD1L3	342372	genome.wustl.edu	37	16	72016107	72016107	+	RNA	SNP	G	G	A			TCGA-AB-2988-03A-01D-0739-09	TCGA-AB-2988-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	c46cad3f-6265-4baf-9ee9-fa7394a27373	fe6bea4d-e433-4977-ab67-b7aa610de359	g.chr16:72016107G>A	ENST00000534738.1	-	0	993							Q7Z443	PK1L3_HUMAN	polycystic kidney disease 1-like 3						cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|neuropeptide signaling pathway (GO:0007218)|sensory perception of sour taste (GO:0050915)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)	p.L332L(1)		autonomic_ganglia(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|lung(3)|skin(2)	22						TCCTCACTCAGGTAAATAAGG	0.388																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	16											77.0	75.0	75.0					16																	72016107		692	1591	2283	70573608			0			AY164485	CCDS73912.1	16q22.2	2008-02-05				ENSG00000277481			21716	protein-coding gene	gene with protein product		607895				12782129	Standard	NM_181536		Approved		uc010vmm.2	Q7Z443			16.37:g.72016107G>A		Somatic	599	2.28	14		0	100.00	1	WXS	Illumina HiSeq	Phase_IV	70573608	323	48.74	309		Silent	SNP	HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_PLAT,HMMSmart_SM00308,HMMPfam_Ion_trans,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),superfamily_C-type lectin-like	p.L332	ENST00000534738.1	37	c.994		16																																																																																			-	NULL		0.388	PKD1L3-001	KNOWN	basic	processed_transcript	PKD1L3	processed_transcript	OTTHUMT00000387876.1	G	NM_181536		70573608	-1	no_errors	ENST00000335106	ensembl	human	known	54_36p	silent	SNP	0.720	A
ABCA10	10349	genome.wustl.edu	37	17	67170917	67170917	+	Splice_Site	SNP	T	T	C			TCGA-AB-2988-03A-01D-0739-09	TCGA-AB-2988-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	c46cad3f-6265-4baf-9ee9-fa7394a27373	fe6bea4d-e433-4977-ab67-b7aa610de359	g.chr17:67170917T>C	ENST00000269081.4	-	25	3788	c.2879A>G	c.(2878-2880)aAa>aGa	p.K960R	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_Intron	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	960					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.K960R(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTGAACATTTTTCTGACAAAG	0.348																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	17											52.0	58.0	56.0					17																	67170917		2198	4294	6492	64682512	SO:0001630	splice_region_variant	0			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.2878-1A>G	17.37:g.67170917T>C		Somatic	461	1.50	7		0	0.00	0	WXS	Illumina HiSeq	Phase_IV	64682512	363	45.66	305	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	HMMPfam_ABC_tran,HMMSmart_SM00382,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.K960R	ENST00000269081.4	37	c.2879	CCDS11684.1	17	.	.	.	.	.	.	.	.	.	.	T	0.103	-1.148741	0.01714	.	.	ENSG00000154263	ENST00000269081	D	0.87179	-2.22	3.06	-1.36	0.09085	.	.	.	.	.	T	0.73869	0.3642	L	0.33339	1.005	0.58432	D	0.999997	B	0.17038	0.02	B	0.21151	0.033	T	0.55585	-0.8118	9	0.13470	T	0.59	.	3.9893	0.09530	0.5774:0.1298:0.0:0.2928	.	960	Q8WWZ4	ABCAA_HUMAN	R	960	ENSP00000269081:K960R	ENSP00000269081:K960R	K	-	2	0	ABCA10	64682512	0.007000	0.16637	0.006000	0.13384	0.216000	0.24613	-0.235000	0.09016	-0.094000	0.12374	-0.534000	0.04291	AAA	-	NULL		0.348	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	protein_coding	OTTHUMT00000379881.4	T	NM_080282	Missense_Mutation	64682512	-1	no_errors	NM_080282.3	genbank	human	reviewed	54_36p	missense	SNP	0.597	C
MYH14	79784	genome.wustl.edu	37	19	50783384	50783384	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2988-03A-01D-0739-09	TCGA-AB-2988-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	c46cad3f-6265-4baf-9ee9-fa7394a27373	fe6bea4d-e433-4977-ab67-b7aa610de359	g.chr19:50783384C>G	ENST00000596571.1	+	28	4000	c.4000C>G	c.(4000-4002)Ctg>Gtg	p.L1334V	MYH14_ENST00000601313.1_Missense_Mutation_p.L1375V|MYH14_ENST00000425460.1_Missense_Mutation_p.L1342V|MYH14_ENST00000376970.2_Missense_Mutation_p.L1367V|MYH14_ENST00000440075.2_Missense_Mutation_p.L1375V|MYH14_ENST00000598205.1_Missense_Mutation_p.L1342V|MYH14_ENST00000262269.8_Missense_Mutation_p.L1375V			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1334					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.L1375V(1)|p.L1334V(1)		central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGAAGCCCAGCTGCACGATGC	0.607																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	19											55.0	63.0	60.0					19																	50783384		2190	4286	6476	55475196	SO:0001583	missense	0			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.4000C>G	19.37:g.50783384C>G	ENSP00000472819:p.Leu1334Val	Somatic	896	3.34	31		0	0.00	0	WXS	Illumina HiSeq	Phase_IV	55475196	317	47.95	293	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_Prefoldin,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.L1342V	ENST00000596571.1	37	c.4024	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	C	14.70	2.615056	0.46631	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000262269	D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02	3.38	3.38	0.38709	Myosin tail (1);	.	.	.	.	D	0.85881	0.5800	L	0.53561	1.675	0.49798	D	0.999826	P;P;P	0.41214	0.697;0.742;0.697	P;P;B	0.48982	0.462;0.597;0.263	D	0.86306	0.1683	9	0.51188	T	0.08	.	12.6516	0.56764	0.0:1.0:0.0:0.0	.	1375;1334;1342	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	V	1334;1375;1367;1342;1375	ENSP00000406273:L1375V;ENSP00000366169:L1367V;ENSP00000407879:L1342V;ENSP00000262269:L1375V	ENSP00000262269:L1375V	L	+	1	2	MYH14	55475196	1.000000	0.71417	0.995000	0.50966	0.276000	0.26787	2.762000	0.47597	1.922000	0.55676	0.455000	0.32223	CTG	-	HMMPfam_Myosin_tail_1		0.607	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	protein_coding	OTTHUMT00000464710.2	C	NM_024729		55475196	+1	no_errors	NM_001077186.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
CDH4	1002	genome.wustl.edu	37	20	60318829	60318829	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2988-03A-01D-0739-09	TCGA-AB-2988-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	c46cad3f-6265-4baf-9ee9-fa7394a27373	fe6bea4d-e433-4977-ab67-b7aa610de359	g.chr20:60318829C>T	ENST00000360469.5	+	3	468	c.380C>T	c.(379-381)cCg>cTg	p.P127L	RP11-429E11.2_ENST00000447909.1_RNA|CDH4_ENST00000543233.1_Missense_Mutation_p.P53L|RP11-429E11.2_ENST00000442888.1_RNA	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	127					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P127L(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACCTCGTCCCCGCACTCTGGA	0.647																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	20											49.0	40.0	43.0					20																	60318829		2198	4300	6498	59752224	SO:0001583	missense	0			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.380C>T	20.37:g.60318829C>T	ENSP00000353656:p.Pro127Leu	Somatic	289	2.03	6		0	0.00	0	WXS	Illumina HiSeq	Phase_IV	59752224	131	48.02	121	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	HMMPfam_Cadherin_C,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_pro,superfamily_Cadherin	p.P127L	ENST00000360469.5	37	c.380	CCDS13488.1	20	.	.	.	.	.	.	.	.	.	.	C	0.781	-0.762464	0.02996	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.54866	0.55;0.58	5.0	0.878	0.19150	Cadherin-like (1);	2.397720	0.01789	N	0.032194	T	0.31606	0.0802	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12889	-1.0530	9	.	.	.	.	5.3138	0.15845	0.2004:0.482:0.0:0.3176	.	127	P55283	CADH4_HUMAN	L	127;35;53	ENSP00000353656:P127L;ENSP00000443301:P53L	.	P	+	2	0	CDH4	59752224	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	0.554000	0.23407	-0.061000	0.13110	-1.579000	0.00862	CCG	-	superfamily_Cadherin		0.647	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	protein_coding	OTTHUMT00000079965.2	C	NM_001794		59752224	+1	no_errors	NM_001794.2	genbank	human	reviewed	54_36p	missense	SNP	0.000	T
AP000525.9	0	genome.wustl.edu	37	22	16157982	16157982	+	RNA	SNP	G	G	T			TCGA-AB-2988-03A-01D-0739-09	TCGA-AB-2988-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	c46cad3f-6265-4baf-9ee9-fa7394a27373	fe6bea4d-e433-4977-ab67-b7aa610de359	g.chr22:16157982G>T	ENST00000447898.1	-	0	293																											CCAAGCGGACGCGGCCAGAGG	0.677																																						dbGAP											0			22																																								14537982			0																															22.37:g.16157982G>T		Somatic	4	33.33	2		0	0.00	0	WXS	Illumina HiSeq	Phase_IV	14537982	4	0.00	0		RNA	SNP	-	NULL	ENST00000447898.1	37	NULL		22																																																																																			-	-		0.677	AP000525.9-002	KNOWN	basic	lincRNA	LOC400879	processed_transcript	OTTHUMT00000276780.1	G			14537982	-1	no_errors	XR_041650.1	genbank	human	model	54_36p	rna	SNP	0.000	T
NEFH	4744	genome.wustl.edu	37	22	29885618	29885618	+	Silent	SNP	T	T	A	rs267607534|rs267607535|rs367989424		TCGA-AB-2988-03A-01D-0739-09	TCGA-AB-2988-11A-01D-0739-09	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	c46cad3f-6265-4baf-9ee9-fa7394a27373	fe6bea4d-e433-4977-ab67-b7aa610de359	g.chr22:29885618T>A	ENST00000310624.6	+	4	2022	c.1989T>A	c.(1987-1989)ccT>ccA	p.P663P		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	669	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.P663P(1)		cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CCAAGTCCCCTGAGAAGGCCA	0.577																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	22	GRCh37	CD991812	NEFH	D							101.0	107.0	105.0					22																	29885618		2203	4300	6503	28215618	SO:0001819	synonymous_variant	0				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1989T>A	22.37:g.29885618T>A		Somatic	375	0.26	1		4	0.00	0	WXS	Illumina HiSeq	Phase_IV	28215618	528	18.33	121	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	HMMPfam_DUF1388,HMMPfam_Filament,PatternScan_IF	p.P663	ENST00000310624.6	37	c.1989	CCDS13858.1	22																																																																																			-	NULL		0.577	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEFH	protein_coding	OTTHUMT00000321553.2	T	NM_021076		28215618	+1	no_errors	NM_021076.3	genbank	human	reviewed	54_36p	silent	SNP	0.041	A
NPM1	4869	genome.wustl.edu	37	5	170837547	170837548	+	Frame_Shift_Ins	INS	-	-	CATG			TCGA-AB-2988-03A-01D-0739-09	TCGA-AB-2988-11A-01D-0739-09	-	-	-	CATG	-	-	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	c46cad3f-6265-4baf-9ee9-fa7394a27373	fe6bea4d-e433-4977-ab67-b7aa610de359	g.chr5:170837547_170837548insCATG	ENST00000296930.5	+	11	1164_1165	c.863_864insCATG	c.(862-867)tggcagfs	p.WQ288fs	NPM1_ENST00000351986.6_Frame_Shift_Ins_p.WQ259fs|NPM1_ENST00000517671.1_Frame_Shift_Ins_p.WQ288fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	288	Required for nucleolar localization.			WQWRKSL -> CLAVEEVSLRK (in Ref. 6; AAW67752/AAW67755). {ECO:0000305}.|WQWRKSL -> CMAVEEVSLRK (in Ref. 6; AAW67753 and 7; ABC40399). {ECO:0000305}.|WQWRKSL -> CVAVEEVSLRK (in Ref. 6; AAW67754). {ECO:0000305}.	cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.W288fs*12(2114)|p.W288fs*10(9)|p.Q289fs*11(3)|p.W288*(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGATCTCTGGCAGTGGAGGA	0.312			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""																																	dbGAP		Dom	yes		5	5q35	4869	"""nucleophosmin (nucleolar phosphoprotein B23, numatrin)"""		L	2127	Insertion - Frameshift(2118)|Complex - frameshift(8)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(2127)	5																																								170770153	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"""nucleolar phosphoprotein B23"", ""numatrin"", ""nucleophosmin/nucleoplasmin family, member 1"""	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	Exception_encountered	5.37:g.170837547_170837548insCATG	ENSP00000296930:p.Trp288fs	Somatic	NA	NA	NA		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	170770152	NA	NA	NA	A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.W288fs	ENST00000296930.5	37	c.863_864	CCDS4376.1	5																																																																																			-	NULL		0.312	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770153	+1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	CATG
FLT3	2322	genome.wustl.edu	37	13	28608214	28608215	+	Intron	INS	-	-	TTACCAAACTCTAAATTTTCTCTTGGAAACTCCCAT			TCGA-AB-2988-03A-01D-0739-09	TCGA-AB-2988-11A-01D-0739-09	-	-	-	TTACCAAACTCTAAATTTTCTCTTGGAAACTCCCAT	-	-	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	c46cad3f-6265-4baf-9ee9-fa7394a27373	fe6bea4d-e433-4977-ab67-b7aa610de359	g.chr13:28608214_28608215insTTACCAAACTCTAAATTTTCTCTTGGAAACTCCCAT	ENST00000241453.7	-	14	1919				FLT3_ENST00000537084.1_Intron|FLT3_ENST00000380982.4_Intron	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3						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)			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)	ACATTCCATTCTTACCAAACTC	0.376			"""Mis, O"""		"""AML, ALL"""																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0			13																																								27506215	SO:0001627	intron_variant	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.1837+3->ATGGGAGTTTCCAAGAGAAAATTTAGAGTTTGGTAA	13.37:g.28608214_28608215insTTACCAAACTCTAAATTTTCTCTTGGAAACTCCCAT		Somatic	NA	NA	NA		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	27506214	NA	NA	NA	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	-	in_frame_ins	ENST00000241453.7	37		CCDS31953.1	13																																																																																			-	-		0.376	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506215	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	0.779:0.796	TTACCAAACTCTAAATTTTCTCTTGGAAACTCCCAT
