#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
ZBTB33	10009	genome.wustl.edu	37	X	119387500	119387500	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2959-03A-01W-0733-08	TCGA-AB-2959-11A-01W-0732-08	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8c783e8d-d1d7-41cc-9b4d-e651f11d8fea	5f663626-659e-41d2-a1f5-934bb2c3ad8e	g.chrX:119387500T>A	ENST00000326624.2	+	2	458	c.230T>A	c.(229-231)aTc>aAc	p.I77N	ZBTB33_ENST00000557385.1_Missense_Mutation_p.I77N	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	77	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.|Interaction with NCOR1.|Self-association. {ECO:0000250}.				intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGAGCAGAGATCTTTGCAGAA	0.373																																						dbGAP											0			X											85.0	88.0	87.0					X																	119387500		2203	4300	6503	119271528	SO:0001583	missense	0			BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.230T>A	X.37:g.119387500T>A	ENSP00000314153:p.Ile77Asn	83	3.45	3		6	82.35	28	119271528	6	81.82	27	B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	Missense_Mutation	SNP	HMMSmart_SM00225,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.I77N	ENST00000326624.2	37	c.230	CCDS14596.1	X	.	.	.	.	.	.	.	.	.	.	T	16.21	3.058875	0.55325	.	.	ENSG00000177485;ENSG00000177485;ENSG00000258974	ENST00000326624;ENST00000540105;ENST00000557385	T;T	0.68331	-0.32;-0.32	5.96	5.96	0.96718	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.79695	0.4490	M	0.64260	1.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81371	-0.0963	10	0.66056	D	0.02	-9.8685	14.4615	0.67453	0.0:0.0:0.0:1.0	.	77	Q86T24	KAISO_HUMAN	N	77	ENSP00000314153:I77N;ENSP00000450969:I77N	ENSP00000314153:I77N	I	+	2	0	ZBTB33;AC002086.1	119271528	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.014000	0.59158	0.481000	0.45027	ATC	-	HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB		0.373	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB33	protein_coding	OTTHUMT00000058085.2	T	NM_006777		119271528	+1	no_errors	NM_006777.3	genbank	human	validated	54_36p	missense	SNP	1.000	A
PHF6	84295	genome.wustl.edu	37	X	133547852	133547852	+	Splice_Site	SNP	G	G	T			TCGA-AB-2959-03A-01W-0733-08	TCGA-AB-2959-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8c783e8d-d1d7-41cc-9b4d-e651f11d8fea	5f663626-659e-41d2-a1f5-934bb2c3ad8e	g.chrX:133547852G>T	ENST00000332070.3	+	7	787		c.e7-1		PHF6_ENST00000370799.1_Splice_Site|PHF6_ENST00000416404.2_Splice_Site|PHF6_ENST00000370803.3_Splice_Site|PHF6_ENST00000394292.1_Splice_Site|PHF6_ENST00000370800.4_Splice_Site	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|scaffold protein binding (GO:0097110)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					TACATTTGCAGAGAGATAGGT	0.373			"""F, N, Splice, Mis"""		ETP ALL																																Colon(100;666 1493 6344 21231 35807)	dbGAP		Rec	yes		X	Xq26.3	84295	PHD finger protein 6		L	0			X											74.0	68.0	70.0					X																	133547852		2202	4300	6502	133375518	SO:0001630	splice_region_variant	0			AB058726	CCDS14639.1, CCDS14640.1	Xq26	2014-09-17			ENSG00000156531	ENSG00000156531		"""Zinc fingers, PHD-type"""	18145	protein-coding gene	gene with protein product	"""centromere protein 31"""	300414	"""Borjeson-Forssman-Lehmann syndrome"""	BFLS, BORJ		12415272, 15466013	Standard	NM_032335		Approved	KIAA1823, MGC14797, CENP-31	uc004exk.3	Q8IWS0	OTTHUMG00000022453	ENST00000332070.3:c.586-1G>T	X.37:g.133547852G>T		64	0.00	0		0	0.00	0	133375518	12	64.71	22	A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0	Splice_Site	SNP	-	e6-1	ENST00000332070.3	37	c.586-1	CCDS14639.1	X	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892515	0.52121	.	.	ENSG00000156531	ENST00000370803;ENST00000332070;ENST00000394292;ENST00000370799;ENST00000416404;ENST00000370800	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0787	0.86592	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PHF6	133375518	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	9.399000	0.97285	2.329000	0.79093	0.415000	0.27848	.	-	-		0.373	PHF6-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHF6	protein_coding	OTTHUMT00000058367.1	G	NM_032458	Intron	133375518	+1	no_errors	NM_001015877.1	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	T
MYOM3	127294	genome.wustl.edu	37	1	24432514	24432514	+	Silent	SNP	G	G	A	rs368906169		TCGA-AB-2959-03A-01W-0733-08	TCGA-AB-2959-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8c783e8d-d1d7-41cc-9b4d-e651f11d8fea	5f663626-659e-41d2-a1f5-934bb2c3ad8e	g.chr1:24432514G>A	ENST00000374434.3	-	5	618	c.456C>T	c.(454-456)cgC>cgT	p.R152R	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000330966.7_Silent_p.R153R|MYOM3_ENST00000329601.7_Silent_p.R152R	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	152						M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		ACCAGGGCCCGCGGCCGTAGC	0.657																																						dbGAP											0			1						G		0,4184		0,0,2092	52.0	65.0	61.0		456	-10.7	0.5	1		61	1,8405		0,1,4202	no	coding-synonymous	MYOM3	NM_152372.3		0,1,6294	AA,AG,GG		0.0119,0.0,0.0079		152/1438	24432514	1,12589	2092	4203	6295	24305101	SO:0001819	synonymous_variant	0			AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.456C>T	1.37:g.24432514G>A		46	0.00	0		NA	NA	NA	24305101	22	31.25	10	A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Silent	SNP	HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,PatternScan_EF_HAND_1,superfamily_Immunoglobulin	p.R152	ENST00000374434.3	37	c.456	CCDS41281.1	1																																																																																			-	superfamily_Immunoglobulin		0.657	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYOM3	protein_coding	OTTHUMT00000008272.2	G	NM_152372		24305101	-1	no_errors	NM_152372.3	genbank	human	validated	54_36p	silent	SNP	0.929	A
CCDC24	149473	genome.wustl.edu	37	1	44461319	44461319	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2959-03A-01W-0733-08	TCGA-AB-2959-11A-01W-0732-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8c783e8d-d1d7-41cc-9b4d-e651f11d8fea	5f663626-659e-41d2-a1f5-934bb2c3ad8e	g.chr1:44461319C>A	ENST00000372318.3	+	7	770	c.599C>A	c.(598-600)gCa>gAa	p.A200E	SLC6A9_ENST00000372307.3_Intron|CCDC24_ENST00000479055.1_3'UTR|SLC6A9_ENST00000372306.3_Intron	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	200										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CCCTCTGAGGCAGCCCTGGAG	0.647																																						dbGAP											0			1											24.0	26.0	26.0					1																	44461319		2203	4300	6503	44233906	SO:0001583	missense	0				CCDS507.1	1p34.1	2008-02-05			ENSG00000159214	ENSG00000159214			28688	protein-coding gene	gene with protein product						12477932	Standard	NM_152499		Approved	MGC45441	uc001clj.3	Q8N4L8	OTTHUMG00000008299	ENST00000372318.3:c.599C>A	1.37:g.44461319C>A	ENSP00000361392:p.Ala200Glu	43	0.00	0		0	100.00	1	44233906	16	33.33	8	Q6RWT2	Missense_Mutation	SNP	NULL	p.A200E	ENST00000372318.3	37	c.599	CCDS507.1	1	.	.	.	.	.	.	.	.	.	.	C	9.960	1.222608	0.22457	.	.	ENSG00000159214	ENST00000372318	.	.	.	5.03	1.86	0.25419	.	1.488830	0.04291	N	0.345630	T	0.16514	0.0397	N	0.08118	0	0.09310	N	1	B;B	0.16396	0.007;0.017	B;B	0.15484	0.013;0.012	T	0.23190	-1.0195	9	0.06494	T	0.89	-34.811	3.6924	0.08351	0.177:0.5663:0.1601:0.0966	.	164;200	Q8N4L8-2;Q8N4L8	.;CCD24_HUMAN	E	200	.	ENSP00000361392:A200E	A	+	2	0	CCDC24	44233906	0.000000	0.05858	0.001000	0.08648	0.293000	0.27360	-0.157000	0.10085	0.534000	0.28695	0.514000	0.50259	GCA	-	NULL		0.647	CCDC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC24	protein_coding	OTTHUMT00000022865.1	C	NM_152499		44233906	+1	no_errors	NM_152499.1	genbank	human	provisional	54_36p	missense	SNP	0.002	A
CRB1	23418	genome.wustl.edu	37	1	197390405	197390405	+	Missense_Mutation	SNP	G	G	A	rs146120995	byFrequency	TCGA-AB-2959-03A-01W-0733-08	TCGA-AB-2959-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8c783e8d-d1d7-41cc-9b4d-e651f11d8fea	5f663626-659e-41d2-a1f5-934bb2c3ad8e	g.chr1:197390405G>A	ENST00000367400.3	+	6	1582	c.1447G>A	c.(1447-1449)Gca>Aca	p.A483T	CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.A371T|CRB1_ENST00000535699.1_Missense_Mutation_p.A414T|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.A483T|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000543483.1_Missense_Mutation_p.A182T	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	483					cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A483T(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GTGTGAAATCGCAACCACACT	0.498																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)	1						G	THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	103.0	91.0	95.0		1111,1447	1.4	0.0	1	dbSNP_134	95	0,8600		0,0,4300	no	missense,missense	CRB1	NM_001193640.1,NM_201253.2	58,58	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign	371/1295,483/1407	197390405	2,13004	2203	4300	6503	195657028	SO:0001583	missense	0				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1447G>A	1.37:g.197390405G>A	ENSP00000356370:p.Ala483Thr	182	1.08	2		NA	NA	NA	195657028	48	26.15	17	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	PatternScan_ASX_HYDROXYL,HMMSmart_SM00282,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,PatternScan_C_TYPE_LECTIN_1,superfamily_EGF/Laminin	p.A483T	ENST00000367400.3	37	c.1447	CCDS1390.1	1	.	.	.	.	.	.	.	.	.	.	G	0.547	-0.851282	0.02651	4.54E-4	0.0	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000543483;ENST00000367401	T;T;T;T;D	0.87809	-1.21;-1.21;-1.21;-1.21;-2.3	5.82	1.4	0.22301	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.69931	0.3166	N	0.22421	0.69	0.09310	N	0.999998	P;P;B;B;P	0.41643	0.758;0.745;0.004;0.371;0.487	B;B;B;B;B	0.27500	0.074;0.08;0.002;0.039;0.037	T	0.58002	-0.7713	9	0.17832	T	0.49	.	7.0314	0.24969	0.3812:0.1201:0.4987:0.0	.	483;414;371;132;483	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	T	414;483;483;371;182;132	ENSP00000438786:A414T;ENSP00000438091:A483T;ENSP00000356370:A483T;ENSP00000356369:A371T;ENSP00000439579:A182T	ENSP00000356369:A371T	A	+	1	0	CRB1	195657028	0.000000	0.05858	0.013000	0.15412	0.000000	0.00434	-0.345000	0.07770	0.393000	0.25203	-0.781000	0.03364	GCA	-	superfamily_Concanavalin A-like lectins/glucanases		0.498	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB1	protein_coding	OTTHUMT00000086565.2	G	NM_201253		195657028	+1	no_errors	NM_201253.1	genbank	human	reviewed	54_36p	missense	SNP	0.005	A
TPO	7173	genome.wustl.edu	37	2	1457469	1457469	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2959-03A-01W-0733-08	TCGA-AB-2959-11A-01W-0732-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8c783e8d-d1d7-41cc-9b4d-e651f11d8fea	5f663626-659e-41d2-a1f5-934bb2c3ad8e	g.chr2:1457469C>A	ENST00000345913.4	+	6	577	c.486C>A	c.(484-486)gaC>gaA	p.D162E	TPO_ENST00000337415.3_Missense_Mutation_p.D162E|TPO_ENST00000349624.3_Missense_Mutation_p.D162E|TPO_ENST00000346956.3_Missense_Mutation_p.D162E|TPO_ENST00000329066.4_Missense_Mutation_p.D162E|TPO_ENST00000382201.3_Missense_Mutation_p.D162E|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.D162E	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	162					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TCCACAGAGACCACCCCAGAT	0.557																																						dbGAP											0			2											72.0	81.0	78.0					2																	1457469		2203	4300	6503	1436476	SO:0001583	missense	0				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.486C>A	2.37:g.1457469C>A	ENSP00000318820:p.Asp162Glu	28	0.00	0		NA	NA	NA	1436476	10	44.44	8	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	PatternScan_ASX_HYDROXYL,HMMPfam_Sushi,HMMSmart_SM00032,HMMSmart_SM00179,HMMPfam_An_peroxidase,HMMSmart_SM00181,superfamily_Heme-dependent peroxidases,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_Complement control module/SCR domain,PatternScan_EGF_CA,PatternScan_PEROXIDASE_1,superfamily_EGF/Laminin	p.D162E	ENST00000345913.4	37	c.486	CCDS1643.1	2	.	.	.	.	.	.	.	.	.	.	C	0.431	-0.903561	0.02453	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49	5.27	0.157	0.14915	.	0.555420	0.20870	N	0.084200	T	0.22898	0.0553	N	0.12443	0.215	0.80722	D	1	B;B;B;B	0.27951	0.035;0.023;0.162;0.195	B;B;B;B	0.25987	0.039;0.022;0.039;0.065	T	0.06303	-1.0834	10	0.11794	T	0.64	-36.6034	1.5311	0.02536	0.3344:0.3591:0.109:0.1976	.	162;162;162;162	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	E	162;162;162;162;162;162;162;162;91	ENSP00000337263:D162E;ENSP00000318820:D162E;ENSP00000263886:D162E;ENSP00000332044:D162E;ENSP00000329869:D162E;ENSP00000371636:D162E;ENSP00000390994:D162E;ENSP00000371633:D162E;ENSP00000405788:D91E	ENSP00000329869:D162E	D	+	3	2	TPO	1436476	0.015000	0.18098	0.851000	0.33527	0.031000	0.12232	-0.894000	0.04123	-0.297000	0.08934	-0.319000	0.08680	GAC	-	HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases		0.557	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	protein_coding	OTTHUMT00000206594.2	C	NM_000547		1436476	+1	no_errors	NM_000547.4	genbank	human	reviewed	54_36p	missense	SNP	0.965	A
APOB	338	genome.wustl.edu	37	2	21235398	21235398	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2959-03A-01W-0733-08	TCGA-AB-2959-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8c783e8d-d1d7-41cc-9b4d-e651f11d8fea	5f663626-659e-41d2-a1f5-934bb2c3ad8e	g.chr2:21235398C>T	ENST00000233242.1	-	26	4469	c.4342G>A	c.(4342-4344)Gtc>Atc	p.V1448I		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1448					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)					CCTTTTGAGACTGGGTTGTTT	0.378																																						dbGAP											0			2											105.0	110.0	108.0					2																	21235398		2203	4300	6503	21088903	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.4342G>A	2.37:g.21235398C>T	ENSP00000233242:p.Val1448Ile	207	1.42	3		NA	NA	NA	21088903	68	41.88	49	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.V1448I	ENST00000233242.1	37	c.4342	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	7.015	0.557552	0.13436	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00724	5.78	5.62	3.81	0.43845	.	0.565352	0.17012	N	0.190470	T	0.00695	0.0023	L	0.29908	0.895	0.09310	N	0.999996	B	0.06786	0.001	B	0.04013	0.001	T	0.47911	-0.9080	10	0.19590	T	0.45	.	6.0516	0.19789	0.0:0.5353:0.2597:0.205	.	1448	P04114	APOB_HUMAN	I	1448	ENSP00000233242:V1448I	ENSP00000233242:V1448I	V	-	1	0	APOB	21088903	0.006000	0.16342	0.964000	0.40570	0.786000	0.44442	0.598000	0.24074	0.718000	0.32166	-0.882000	0.02950	GTC	-	NULL		0.378	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	protein_coding	OTTHUMT00000207571.1	C			21088903	-1	no_errors	NM_000384.2	genbank	human	reviewed	54_36p	missense	SNP	0.001	T
UBR3	130507	genome.wustl.edu	37	2	170917884	170917884	+	Silent	SNP	C	C	T			TCGA-AB-2959-03A-01W-0733-08	TCGA-AB-2959-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8c783e8d-d1d7-41cc-9b4d-e651f11d8fea	5f663626-659e-41d2-a1f5-934bb2c3ad8e	g.chr2:170917884C>T	ENST00000272793.5	+	35	5000	c.4950C>T	c.(4948-4950)tgC>tgT	p.C1650C	UBR3_ENST00000418381.1_Silent_p.C1650C|UBR3_ENST00000392631.1_Silent_p.C471C			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1650					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						AGGACTTCTGCTTACCTTTTC	0.393																																						dbGAP											0			2											180.0	178.0	179.0					2																	170917884		2203	4300	6503	170626130	SO:0001819	synonymous_variant	0			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.4950C>T	2.37:g.170917884C>T		135	1.45	2		14	50.00	14	170626130	26	27.78	10	B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Silent	SNP	HMMPfam_zf-C3HC4,superfamily_RING/U-box	p.C503	ENST00000272793.5	37	c.1509		2	.	.	.	.	.	.	.	.	.	.	C	9.058	0.993688	0.19043	.	.	ENSG00000144357	ENST00000392632	.	.	.	5.92	5.04	0.67666	.	.	.	.	.	T	0.70640	0.3247	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70015	-0.4988	4	.	.	.	.	14.6263	0.68624	0.0:0.9296:0.0:0.0704	.	.	.	.	V	712	.	.	A	+	2	0	UBR3	170626130	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.404000	0.34623	1.495000	0.48549	0.650000	0.86243	GCT	-	NULL		0.393	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	UBR3	protein_coding	OTTHUMT00000255290.2	C	NM_172070		170626130	+1	no_errors	NM_172070.3	genbank	human	validated	54_36p	silent	SNP	1.000	T
LOC101928978	101928978	genome.wustl.edu	37	4	85165628	85165628	+	IGR	SNP	G	G	A	rs377297984		TCGA-AB-2959-03A-01W-0733-08	TCGA-AB-2959-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8c783e8d-d1d7-41cc-9b4d-e651f11d8fea	5f663626-659e-41d2-a1f5-934bb2c3ad8e	g.chr4:85165628G>A								RNU6-774P (10712 upstream) : RP11-42A4.1 (126917 downstream)																							TCAGCTGCAAGGTGTGCCTGC	0.622																																						dbGAP											0			4																																								85384652	SO:0001628	intergenic_variant	0																															4.37:g.85165628G>A		113	0.00	0		1	0.00	0	85384652	24	45.45	20		RNA	SNP	-	NULL		37	NULL		4																																																																																			-	-	0	0.622					LOC152845			G			85384652	+1	pseudogene	XR_038721.1	genbank	human	model	54_36p	rna	SNP	1.000	A
RIMS1	22999	genome.wustl.edu	37	6	72967959	72967959	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2959-03A-01W-0733-08	TCGA-AB-2959-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8c783e8d-d1d7-41cc-9b4d-e651f11d8fea	5f663626-659e-41d2-a1f5-934bb2c3ad8e	g.chr6:72967959C>T	ENST00000521978.1	+	17	2902	c.2902C>T	c.(2902-2904)Cgt>Tgt	p.R968C	RIMS1_ENST00000517827.1_Missense_Mutation_p.R427C|RIMS1_ENST00000264839.7_Missense_Mutation_p.R968C|RIMS1_ENST00000401910.3_Missense_Mutation_p.R441C|RIMS1_ENST00000522291.1_Missense_Mutation_p.R967C|RIMS1_ENST00000523963.1_Missense_Mutation_p.R442C|RIMS1_ENST00000491071.2_Missense_Mutation_p.R968C|RIMS1_ENST00000425662.2_Missense_Mutation_p.R361C|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000348717.5_Missense_Mutation_p.R967C|RIMS1_ENST00000517960.1_Missense_Mutation_p.R967C|RIMS1_ENST00000518273.1_Missense_Mutation_p.R968C|RIMS1_ENST00000520567.1_Missense_Mutation_p.R967C	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	968					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GCCGCGTTCACGTTTACCAAA	0.433																																						dbGAP											0			6											76.0	72.0	73.0					6																	72967959		1945	4141	6086	73024680	SO:0001583	missense	0			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2902C>T	6.37:g.72967959C>T	ENSP00000428417:p.Arg968Cys	93	0.00	0		NA	NA	NA	73024680	20	25.93	7	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	HMMPfam_C2,HMMSmart_SM00239,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_FYVE/PHD zinc finger,PatternScan_GLYCOSYL_HYDROL_F1_1	p.R968C	ENST00000521978.1	37	c.2902	CCDS47449.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.415501|4.415501	0.83449|0.83449	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420|ENST00000517433	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.23950|.	2.19;2.47;2.18;2.47;2.38;2.36;2.42;2.23;2.34;2.33;2.41;2.4;2.39;1.88|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	0.000000|.	0.64402|.	D|.	0.000005|.	T|T	0.64091|0.64091	0.2567|0.2567	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;0.992;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;P;D;D;D;D;D|.	0.91635|.	0.915;0.985;0.997;0.997;0.95;0.999;0.644;0.972;0.988;0.993;0.997;0.997|.	T|T	0.61686|0.61686	-0.7012|-0.7012	10|5	0.52906|.	T|.	0.07|.	-14.5517|-14.5517	18.729|18.729	0.91728|0.91728	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	427;442;968;427;441;967;220;968;967;221;968;968|.	B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5|.	.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN|.	C|M	968;968;968;967;968;967;968;967;968;967;967;968;441;442;361;361;427;193|541	ENSP00000430101:R968C;ENSP00000275037:R967C;ENSP00000264839:R968C;ENSP00000429959:R967C;ENSP00000430408:R968C;ENSP00000430502:R967C;ENSP00000430932:R967C;ENSP00000428417:R968C;ENSP00000385649:R441C;ENSP00000428328:R442C;ENSP00000411235:R361C;ENSP00000389503:R361C;ENSP00000428367:R427C;ENSP00000359448:R193C|.	ENSP00000264839:R968C|.	R|T	+|+	1|2	0|0	RIMS1|RIMS1	73024680|73024680	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.946000|0.946000	0.59487|0.59487	4.641000|4.641000	0.61375|0.61375	2.434000|2.434000	0.82447|0.82447	0.585000|0.585000	0.79938|0.79938	CGT|ACG	-	NULL		0.433	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	protein_coding	OTTHUMT00000374968.1	C			73024680	+1	no_errors	NM_014989.3	genbank	human	validated	54_36p	missense	SNP	1.000	T
DOCK5	80005	genome.wustl.edu	37	8	25136110	25136110	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2959-03A-01W-0733-08	TCGA-AB-2959-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8c783e8d-d1d7-41cc-9b4d-e651f11d8fea	5f663626-659e-41d2-a1f5-934bb2c3ad8e	g.chr8:25136110G>A	ENST00000276440.7	+	5	294	c.250G>A	c.(250-252)Gag>Aag	p.E84K	DOCK5_ENST00000481100.1_Missense_Mutation_p.E84K	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	84					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.E84K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GATTCCTGGCGAGCTCCCCCT	0.552																																					Pancreas(145;34 1887 3271 10937 30165)	dbGAP											1	Substitution - Missense(1)	endometrium(1)	8											135.0	111.0	119.0					8																	25136110		2203	4300	6503	25192027	SO:0001583	missense	0				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.250G>A	8.37:g.25136110G>A	ENSP00000276440:p.Glu84Lys	90	0.00	0		8	50.00	8	25192027	33	40.00	22	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain	p.E84K	ENST00000276440.7	37	c.250	CCDS6047.1	8	.	.	.	.	.	.	.	.	.	.	G	34	5.323814	0.95708	.	.	ENSG00000147459	ENST00000481100;ENST00000276440	T;T	0.57907	0.37;0.37	6.06	6.06	0.98353	.	0.056951	0.64402	D	0.000001	T	0.65719	0.2718	M	0.90082	3.085	0.53688	D	0.999972	P	0.50943	0.94	B	0.43301	0.415	T	0.74878	-0.3514	10	0.72032	D	0.01	.	18.1147	0.89549	0.0:0.0:1.0:0.0	.	84	Q9H7D0	DOCK5_HUMAN	K	84	ENSP00000429737:E84K;ENSP00000276440:E84K	ENSP00000276440:E84K	E	+	1	0	DOCK5	25192027	1.000000	0.71417	0.979000	0.43373	0.960000	0.62799	7.325000	0.79124	2.882000	0.98803	0.655000	0.94253	GAG	-	NULL		0.552	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK5	protein_coding	OTTHUMT00000254955.2	G	NM_024940		25192027	+1	no_errors	NM_024940.6	genbank	human	validated	54_36p	missense	SNP	0.981	A
XKR4	114786	genome.wustl.edu	37	8	56367258	56367258	+	Intron	SNP	G	G	A	rs531923704		TCGA-AB-2959-03A-01W-0733-08	TCGA-AB-2959-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8c783e8d-d1d7-41cc-9b4d-e651f11d8fea	5f663626-659e-41d2-a1f5-934bb2c3ad8e	g.chr8:56367258G>A	ENST00000327381.6	+	3	1106					NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4							integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GGCCCTCCACGTGGACGGCAT	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		21759	0.001		0.0	False		,,,				2504	0.0					dbGAP											0			8																																								56529812	SO:0001627	intron_variant	0			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1007-68582G>A	8.37:g.56367258G>A		26	0.00	0		1	0.00	0	56529812	12	25.00	4	Q96PZ8	RNA	SNP	-	NULL	ENST00000327381.6	37	NULL	CCDS34893.1	8																																																																																			-	-		0.587	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100133234	protein_coding	OTTHUMT00000378129.2	G	NM_052898		56529812	-1	pseudogene	XR_038021.1	genbank	human	model	54_36p	rna	SNP	1.000	A
SLCO5A1	81796	genome.wustl.edu	37	8	70744772	70744772	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2959-03A-01W-0733-08	TCGA-AB-2959-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8c783e8d-d1d7-41cc-9b4d-e651f11d8fea	5f663626-659e-41d2-a1f5-934bb2c3ad8e	g.chr8:70744772C>T	ENST00000260126.4	-	2	843	c.137G>A	c.(136-138)tGc>tAc	p.C46Y	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.C46Y|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.C46Y|SLCO5A1_ENST00000528658.1_5'UTR|RP11-159H10.3_ENST00000533300.1_RNA|RP11-159H10.3_ENST00000528800.2_RNA|RP11-159H10.3_ENST00000501104.2_RNA	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GCTTGGCCGGCAGGAGGCGCT	0.637											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0			8											36.0	40.0	39.0					8																	70744772		2203	4300	6503	70907326	SO:0001583	missense	0			AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.137G>A	8.37:g.70744772C>T	ENSP00000260126:p.Cys46Tyr	45	0.00	0	1124	15	44.44	12	70907326	18	41.94	13	A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	HMMSmart_KAZAL,HMMPfam_OATP,HMMPfam_Kazal_2,superfamily_MFS_gen_substrate_transporter,superfamily_SSF100895	p.C46Y	ENST00000260126.4	37	c.137	CCDS6205.1	8	.	.	.	.	.	.	.	.	.	.	C	13.19	2.163288	0.38217	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.41065	1.15;1.51;1.01	5.46	5.46	0.80206	.	1.260150	0.05378	N	0.536562	T	0.38612	0.1047	L	0.27053	0.805	0.28874	N	0.894793	P;P;P;D	0.54964	0.855;0.855;0.855;0.969	B;B;B;P	0.47827	0.36;0.202;0.202;0.558	T	0.10706	-1.0618	10	0.02654	T	1	.	14.7978	0.69891	0.0:1.0:0.0:0.0	.	46;46;46;46	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	Y	46	ENSP00000260126:C46Y;ENSP00000434422:C46Y;ENSP00000431611:C46Y	ENSP00000260126:C46Y	C	-	2	0	SLCO5A1	70907326	0.997000	0.39634	1.000000	0.80357	0.747000	0.42532	1.510000	0.35790	2.576000	0.86940	0.484000	0.47621	TGC	-	NULL		0.637	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO5A1	protein_coding	OTTHUMT00000381990.3	C	NM_030958		70907326	-1	no_errors	NM_030958.1	genbank	human	reviewed	54_36p	missense	SNP	0.999	T
PLCE1	51196	genome.wustl.edu	37	10	95791516	95791516	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2959-03A-01W-0733-08	TCGA-AB-2959-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8c783e8d-d1d7-41cc-9b4d-e651f11d8fea	5f663626-659e-41d2-a1f5-934bb2c3ad8e	g.chr10:95791516T>C	ENST00000371380.3	+	1	948	c.713T>C	c.(712-714)aTg>aCg	p.M238T	PLCE1_ENST00000260766.3_Missense_Mutation_p.M238T			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	238					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGTAAACTGATGGAATTGGCC	0.378																																						dbGAP											0			10											82.0	76.0	78.0					10																	95791516		1914	4128	6042	95781506	SO:0001583	missense	0				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.713T>C	10.37:g.95791516T>C	ENSP00000360431:p.Met238Thr	187	1.56	3		NA	NA	NA	95781506	54	36.47	31	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	HMMPfam_C2,HMMSmart_SM00239,HMMPfam_RA,HMMSmart_SM00314,HMMPfam_PI-PLC-X,HMMSmart_SM00148,HMMPfam_PI-PLC-Y,HMMSmart_SM00149,HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_efhand_like,superfamily_PLC-like phosphodiesterases,superfamily_EF-hand	p.M238T	ENST00000371380.3	37	c.713	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	T	4.361	0.066466	0.08388	.	.	ENSG00000138193	ENST00000260766;ENST00000371380	T;T	0.72505	-0.66;-0.66	4.46	3.29	0.37713	.	0.663946	0.13350	N	0.394462	T	0.52693	0.1750	N	0.19112	0.55	0.23886	N	0.996561	B;B	0.16166	0.016;0.016	B;B	0.14578	0.011;0.011	T	0.38824	-0.9643	10	0.32370	T	0.25	.	7.8397	0.29391	0.0:0.1637:0.0:0.8363	.	238;238	B7ZM61;Q9P212	.;PLCE1_HUMAN	T	238	ENSP00000260766:M238T;ENSP00000360431:M238T	ENSP00000260766:M238T	M	+	2	0	PLCE1	95781506	0.998000	0.40836	0.957000	0.39632	0.339000	0.28857	1.114000	0.31196	0.824000	0.34613	0.533000	0.62120	ATG	-	NULL		0.378	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	protein_coding	OTTHUMT00000049469.3	T	NM_016341		95781506	+1	no_errors	NM_016341.3	genbank	human	validated	54_36p	missense	SNP	0.287	C
NRAP	4892	genome.wustl.edu	37	10	115357815	115357815	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2959-03A-01W-0733-08	TCGA-AB-2959-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8c783e8d-d1d7-41cc-9b4d-e651f11d8fea	5f663626-659e-41d2-a1f5-934bb2c3ad8e	g.chr10:115357815G>T	ENST00000359988.3	-	36	4489	c.4245C>A	c.(4243-4245)gaC>gaA	p.D1415E	NRAP_ENST00000360478.3_Missense_Mutation_p.D1380E|NRAP_ENST00000369360.3_Missense_Mutation_p.D1388E|NRAP_ENST00000369358.4_Missense_Mutation_p.D1423E	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TGCCGATCAGGTCTGACTTGT	0.473																																						dbGAP											0			10											155.0	135.0	142.0					10																	115357815		2203	4300	6503	115347805	SO:0001583	missense	0				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.4245C>A	10.37:g.115357815G>T	ENSP00000353078:p.Asp1415Glu	68	2.86	2		NA	NA	NA	115347805	32	30.43	14		Missense_Mutation	SNP	HMMPfam_Nebulin,HMMSmart_SM00227,HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain)	p.D1415E	ENST00000359988.3	37	c.4245	CCDS7579.1	10	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031379	0.75504	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.82	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.65688	0.2715	M	0.78049	2.395	0.42902	D	0.994234	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.91635	0.997;0.997;0.999;0.997	T	0.64262	-0.6449	10	0.35671	T	0.21	.	10.5246	0.44941	0.1432:0.0:0.8568:0.0	.	573;1415;1380;1415	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	E	1423;1388;1415;1380;573	ENSP00000358365:D1423E;ENSP00000358367:D1388E;ENSP00000353078:D1415E;ENSP00000353666:D1380E	ENSP00000353078:D1415E	D	-	3	2	NRAP	115347805	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.687000	0.46976	2.752000	0.94435	0.655000	0.94253	GAC	-	HMMSmart_SM00227		0.473	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAP	protein_coding	OTTHUMT00000050425.2	G	NM_006175		115347805	-1	no_errors	NM_198060.3	genbank	human	validated	54_36p	missense	SNP	1.000	T
SCUBE2	57758	genome.wustl.edu	37	11	9100947	9100947	+	Silent	SNP	G	G	A	rs369076752		TCGA-AB-2959-03A-01W-0733-08	TCGA-AB-2959-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8c783e8d-d1d7-41cc-9b4d-e651f11d8fea	5f663626-659e-41d2-a1f5-934bb2c3ad8e	g.chr11:9100947G>A	ENST00000309263.3	-	3	438	c.366C>T	c.(364-366)gaC>gaT	p.D122D	SCUBE2_ENST00000520467.1_Silent_p.D122D|SCUBE2_ENST00000457346.2_Silent_p.D122D|SCUBE2_ENST00000450649.2_Silent_p.D122D|SCUBE2_ENST00000534295.1_5'Flank			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	122	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		AATTATGACCGTCATGAGCCA	0.443													G|||	1	0.000199681	0.0	0.0	5008	,	,		21376	0.001		0.0	False		,,,				2504	0.0					dbGAP											0			11						G	,	1,4401	2.1+/-5.4	0,1,2200	182.0	148.0	159.0		366,366	-4.7	1.0	11		159	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous	SCUBE2	NM_001170690.1,NM_020974.2	,	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	,	122/808,122/972	9100947	1,12993	2201	4296	6497	9057523	SO:0001819	synonymous_variant	0			AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.366C>T	11.37:g.9100947G>A		153	0.00	0		NA	NA	NA	9057523	36	38.98	23	Q2NKQ8|Q6ZWI1	Silent	SNP	PatternScan_ASX_HYDROXYL,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Growth factor receptor domain,HMMPfam_GCC2_GCC3,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin	p.D122	ENST00000309263.3	37	c.366		11																																																																																			-	HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_EGF_2,superfamily_EGF/Laminin		0.443	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	SCUBE2	protein_coding	OTTHUMT00000385812.2	G	NM_020974		9057523	-1	no_errors	NM_020974.1	genbank	human	provisional	54_36p	silent	SNP	1.000	A
CCDC67	159989	genome.wustl.edu	37	11	93090127	93090127	+	Missense_Mutation	SNP	G	G	A	rs201772678	byFrequency	TCGA-AB-2959-03A-01W-0733-08	TCGA-AB-2959-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8c783e8d-d1d7-41cc-9b4d-e651f11d8fea	5f663626-659e-41d2-a1f5-934bb2c3ad8e	g.chr11:93090127G>A	ENST00000298050.3	+	4	315	c.215G>A	c.(214-216)cGa>cAa	p.R72Q	CCDC67_ENST00000527307.1_Missense_Mutation_p.R72Q	NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	72					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				GGGTTACTTCGACAGAAATTG	0.308													G|||	2	0.000399361	0.0008	0.0	5008	,	,		16599	0.0		0.001	False		,,,				2504	0.0					dbGAP											0			11											45.0	42.0	43.0					11																	93090127		1800	4057	5857	92729775	SO:0001583	missense	0			AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.215G>A	11.37:g.93090127G>A	ENSP00000298050:p.Arg72Gln	151	0.65	1		NA	NA	NA	92729775	24	45.45	20	Q8NEF1|Q96LL7	Missense_Mutation	SNP	NULL	p.R72Q	ENST00000298050.3	37	c.215	CCDS44707.1	11	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.33	2.801040	0.50315	.	.	ENSG00000165325	ENST00000534747;ENST00000298050;ENST00000532819;ENST00000527307	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.52	4.6	0.57074	.	0.182174	0.39146	N	0.001447	T	0.14098	0.0341	L	0.47716	1.5	0.26968	N	0.965651	P;P;P	0.43314	0.803;0.803;0.803	B;B;B	0.28849	0.095;0.095;0.095	T	0.23297	-1.0192	10	0.25751	T	0.34	.	11.2183	0.48840	0.1431:0.0:0.8569:0.0	.	72;72;64	Q05D60;E9PJR5;Q6ZRU6	CCD67_HUMAN;.;.	Q	72	ENSP00000432111:R72Q;ENSP00000298050:R72Q;ENSP00000434635:R72Q;ENSP00000433002:R72Q	ENSP00000298050:R72Q	R	+	2	0	CCDC67	92729775	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	2.629000	0.46485	2.599000	0.87857	0.655000	0.94253	CGA	-	NULL		0.308	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC67	protein_coding		G	NM_181645		92729775	+1	no_errors	NM_181645.3	genbank	human	validated	54_36p	missense	SNP	0.999	A
AQP5	362	genome.wustl.edu	37	12	50357399	50357399	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2959-03A-01W-0733-08	TCGA-AB-2959-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8c783e8d-d1d7-41cc-9b4d-e651f11d8fea	5f663626-659e-41d2-a1f5-934bb2c3ad8e	g.chr12:50357399T>C	ENST00000293599.6	+	2	636	c.488T>C	c.(487-489)cTg>cCg	p.L163P	RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000550214.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA	NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN	aquaporin 5	163					camera-type eye morphogenesis (GO:0048593)|carbon dioxide transport (GO:0015670)|excretion (GO:0007588)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)			large_intestine(1)|lung(3)	4						TCCCCAGCCCTGTCCATTGGC	0.627																																						dbGAP											0			12											77.0	70.0	72.0					12																	50357399		2203	4300	6503	48643666	SO:0001583	missense	0			U46569	CCDS8793.1	12q13	2013-09-10				ENSG00000161798		"""Ion channels / Aquaporins"""	638	protein-coding gene	gene with protein product		600442				8621489, 23830519	Standard	NM_001651		Approved		uc001rvo.3	P55064	OTTHUMG00000169710	ENST00000293599.6:c.488T>C	12.37:g.50357399T>C	ENSP00000293599:p.Leu163Pro	21	4.55	1		NA	NA	NA	48643666	4	50.00	4	Q6FGW8	Missense_Mutation	SNP	HMMPfam_MIP,PatternScan_MIP,superfamily_MIP	p.L163P	ENST00000293599.6	37	c.488	CCDS8793.1	12	.	.	.	.	.	.	.	.	.	.	T	17.44	3.390915	0.62066	.	.	ENSG00000161798	ENST00000293599	D	0.90504	-2.68	4.31	3.16	0.36331	Aquaporin-like (2);	0.000000	0.45606	D	0.000343	D	0.96901	0.8988	H	0.99169	4.455	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95427	0.8513	10	0.87932	D	0	2.6474	8.1185	0.30957	0.0:0.0977:0.0:0.9023	.	163	P55064	AQP5_HUMAN	P	163	ENSP00000293599:L163P	ENSP00000293599:L163P	L	+	2	0	AQP5	48643666	1.000000	0.71417	0.957000	0.39632	0.618000	0.37518	7.638000	0.83328	0.817000	0.34445	0.533000	0.62120	CTG	-	HMMPfam_MIP,superfamily_MIP		0.627	AQP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP5	protein_coding	OTTHUMT00000405542.2	T	NM_001651		48643666	+1	no_errors	NM_001651.2	genbank	human	reviewed	54_36p	missense	SNP	0.991	C
PABPC3	5042	genome.wustl.edu	37	13	25670652	25670652	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2959-03A-01W-0733-08	TCGA-AB-2959-11A-01W-0732-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8c783e8d-d1d7-41cc-9b4d-e651f11d8fea	5f663626-659e-41d2-a1f5-934bb2c3ad8e	g.chr13:25670652C>G	ENST00000281589.3	+	1	353	c.316C>G	c.(316-318)Ctg>Gtg	p.L106V		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	106	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CGTTAAAAATCTGGATAAGTC	0.393																																						dbGAP											0			13											106.0	101.0	103.0					13																	25670652		2203	4300	6503	24568652	SO:0001583	missense	0			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.316C>G	13.37:g.25670652C>G	ENSP00000281589:p.Leu106Val	105	0.94	1		NA	NA	NA	24568652	57	14.93	10	Q8NHV0|Q9H086	Missense_Mutation	SNP	HMMPfam_RRM_1,HMMSmart_SM00360,HMMPfam_PABP,HMMSmart_SM00517,superfamily_PABC (PABP) domain,HMMSmart_SM00361,superfamily_RNA-binding domain RBD	p.L106V	ENST00000281589.3	37	c.316	CCDS9311.1	13	.	.	.	.	.	.	.	.	.	.	C	10.95	1.495625	0.26774	.	.	ENSG00000151846	ENST00000281589	T	0.46451	0.87	0.546	-1.09	0.09904	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.36338	U	0.002644	T	0.55657	0.1934	M	0.85197	2.74	0.33768	D	0.622755	D	0.57571	0.98	P	0.60012	0.867	T	0.60796	-0.7192	10	0.87932	D	0	.	5.1605	0.15058	0.0:0.5292:0.0:0.4708	.	106	Q9H361	PABP3_HUMAN	V	106	ENSP00000281589:L106V	ENSP00000281589:L106V	L	+	1	2	PABPC3	24568652	0.966000	0.33281	0.035000	0.18076	0.115000	0.19883	0.329000	0.19698	-1.043000	0.03258	-0.704000	0.03662	CTG	-	HMMPfam_RRM_1,HMMSmart_SM00360,HMMSmart_SM00361,superfamily_RNA-binding domain RBD		0.393	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC3	protein_coding	OTTHUMT00000044220.2	C	NM_030979		24568652	+1	no_errors	NM_030979.2	genbank	human	validated	54_36p	missense	SNP	0.998	G
FLT1	2321	genome.wustl.edu	37	13	28880869	28880869	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2959-03A-01W-0733-08	TCGA-AB-2959-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8c783e8d-d1d7-41cc-9b4d-e651f11d8fea	5f663626-659e-41d2-a1f5-934bb2c3ad8e	g.chr13:28880869A>G	ENST00000282397.4	-	29	4012	c.3761T>C	c.(3760-3762)aTg>aCg	p.M1254T	FLT1_ENST00000543394.1_Missense_Mutation_p.M277T|FLT1_ENST00000540678.1_Missense_Mutation_p.M472T	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1254					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|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 phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCGCTTCAGCATGGGAGAGGC	0.552																																						dbGAP											0			13											98.0	89.0	92.0					13																	28880869		2203	4300	6503	27778869	SO:0001583	missense	0			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3761T>C	13.37:g.28880869A>G	ENSP00000282397:p.Met1254Thr	113	1.74	2		NA	NA	NA	27778869	43	50.00	43	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_SM00220,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like),HMMPfam_I-set,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_Immunoglobulin	p.M1254T	ENST00000282397.4	37	c.3761	CCDS9330.1	13	.	.	.	.	.	.	.	.	.	.	A	9.667	1.145705	0.21288	.	.	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	T;T;T	0.75938	-0.76;-0.95;-0.98	5.23	3.89	0.44902	.	0.757856	0.11476	N	0.560240	T	0.53802	0.1819	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.53788	-0.8389	10	0.54805	T	0.06	.	7.6943	0.28585	0.6949:0.0:0.0:0.3051	.	1254	P17948	VGFR1_HUMAN	T	1254;277;472	ENSP00000282397:M1254T;ENSP00000437841:M277T;ENSP00000443311:M472T	ENSP00000282397:M1254T	M	-	2	0	FLT1	27778869	0.988000	0.35896	0.914000	0.36105	0.526000	0.34562	2.790000	0.47821	2.099000	0.63709	0.528000	0.53228	ATG	-	NULL		0.552	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	protein_coding	OTTHUMT00000044322.1	A			27778869	-1	no_errors	NM_002019.3	genbank	human	validated	54_36p	missense	SNP	0.733	G
PDS5B	23047	genome.wustl.edu	37	13	33338670	33338670	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2959-03A-01W-0733-08	TCGA-AB-2959-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8c783e8d-d1d7-41cc-9b4d-e651f11d8fea	5f663626-659e-41d2-a1f5-934bb2c3ad8e	g.chr13:33338670A>G	ENST00000315596.10	+	31	3748	c.3562A>G	c.(3562-3564)Aca>Gca	p.T1188A	RNY1P4_ENST00000384595.1_RNA	NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1188					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TGAAGATTACACAATGTCTTC	0.313																																						dbGAP											0			13											108.0	106.0	106.0					13																	33338670		1850	4088	5938	32236670	SO:0001583	missense	0			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.3562A>G	13.37:g.33338670A>G	ENSP00000313851:p.Thr1188Ala	159	0.62	1		71	25.26	24	32236670	52	16.13	10	Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	HMMPfam_HEAT,superfamily_ARM repeat,HMMPfam_AT_hook	p.T1188A	ENST00000315596.10	37	c.3562	CCDS41878.1	13	.	.	.	.	.	.	.	.	.	.	A	14.43	2.533262	0.45073	.	.	ENSG00000083642	ENST00000315596;ENST00000421084;ENST00000447833	.	.	.	5.39	2.7	0.31948	.	0.319242	0.35646	N	0.003076	T	0.25901	0.0631	N	0.19112	0.55	0.33655	D	0.608964	B	0.31009	0.303	B	0.29942	0.109	T	0.29671	-1.0004	9	0.07644	T	0.81	-10.1116	8.9107	0.35552	0.7452:0.1301:0.0:0.1247	.	1188	Q9NTI5	PDS5B_HUMAN	A	1188;1188;142	.	ENSP00000313851:T1188A	T	+	1	0	PDS5B	32236670	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	3.309000	0.51903	0.935000	0.37341	0.528000	0.53228	ACA	-	NULL		0.313	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5B	protein_coding	OTTHUMT00000044428.3	A	NM_015032		32236670	+1	no_errors	NM_015032.2	genbank	human	validated	54_36p	missense	SNP	0.987	G
CEBPE	1053	genome.wustl.edu	37	14	23586708	23586708	+	Silent	SNP	C	C	A			TCGA-AB-2959-03A-01W-0733-08	TCGA-AB-2959-11A-01W-0732-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8c783e8d-d1d7-41cc-9b4d-e651f11d8fea	5f663626-659e-41d2-a1f5-934bb2c3ad8e	g.chr14:23586708C>A	ENST00000206513.5	-	2	1358	c.834G>T	c.(832-834)ggG>ggT	p.G278G		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	278					cellular response to lipopolysaccharide (GO:0071222)|cytokine biosynthetic process (GO:0042089)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|macrophage differentiation (GO:0030225)|phagocytosis (GO:0006909)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		AGCTGCAACCCCCCACGCCCT	0.667																																					NSCLC(63;1230 1818 14565 22565)	dbGAP											0			14											34.0	28.0	30.0					14																	23586708		2203	4300	6503	22656548	SO:0001819	synonymous_variant	0				CCDS9589.1	14q11.2	2014-09-17			ENSG00000092067	ENSG00000092067		"""basic leucine zipper proteins"""	1836	protein-coding gene	gene with protein product		600749				8661101	Standard	NM_001805		Approved	CRP1	uc001wiv.2	Q15744	OTTHUMG00000028719	ENST00000206513.5:c.834G>T	14.37:g.23586708C>A		92	0.00	0		NA	NA	NA	22656548	32	52.94	36	Q15745|Q8IYI2|Q99803	Silent	SNP	HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2	p.G278	ENST00000206513.5	37	c.834	CCDS9589.1	14																																																																																			-	NULL		0.667	CEBPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPE	protein_coding	OTTHUMT00000071716.2	C	NM_001805		22656548	-1	no_errors	NM_001805.2	genbank	human	reviewed	54_36p	silent	SNP	0.996	A
GZMB	3002	genome.wustl.edu	37	14	25101212	25101212	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2959-03A-01W-0733-08	TCGA-AB-2959-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8c783e8d-d1d7-41cc-9b4d-e651f11d8fea	5f663626-659e-41d2-a1f5-934bb2c3ad8e	g.chr14:25101212G>A	ENST00000216341.4	-	4	558	c.452C>T	c.(451-453)gCc>gTc	p.A151V	GZMB_ENST00000526004.1_3'UTR|RP11-104E19.1_ENST00000557736.1_RNA|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000415355.3_Missense_Mutation_p.A139V|GZMB_ENST00000382540.1_Missense_Mutation_p.A106V|GZMB_ENST00000382542.1_Missense_Mutation_p.A185V			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	151	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|intrinsic apoptotic signaling pathway (GO:0097193)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		TCCCAGGGGGGCCGTCTGCCC	0.577																																						dbGAP											0			14											93.0	93.0	93.0					14																	25101212		2203	4300	6503	24171052	SO:0001583	missense	0			BC030195	CCDS9633.1	14q11.2	2008-08-13			ENSG00000100453	ENSG00000100453			4709	protein-coding gene	gene with protein product	"""fragmentin 2"", ""cytotoxic serine protease B"", ""cathepsin G-like 1"", ""T-cell serine protease 1-3E"""	123910		CTLA1, CSPB		2323780	Standard	NM_004131		Approved	CCPI, CGL-1, CSP-B, CGL1, CTSGL1, HLP, SECT	uc001wps.2	P10144	OTTHUMG00000029369	ENST00000216341.4:c.452C>T	14.37:g.25101212G>A	ENSP00000216341:p.Ala151Val	70	0.00	0		16	15.79	3	24171052	17	50.00	18	Q8N1D2|Q9UCC1	Missense_Mutation	SNP	HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER	p.A151V	ENST00000216341.4	37	c.452	CCDS9633.1	14	.	.	.	.	.	.	.	.	.	.	g	11.60	1.686769	0.29962	.	.	ENSG00000100453	ENST00000415355;ENST00000216341;ENST00000382542;ENST00000382540;ENST00000382539	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	5.3	1.23	0.21249	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.283200	0.02574	N	0.098099	T	0.81851	0.4910	N	0.16233	0.39	0.09310	N	1	B;B	0.18610	0.014;0.029	B;B	0.16289	0.015;0.006	T	0.68108	-0.5496	10	0.44086	T	0.13	.	8.9161	0.35583	0.0818:0.4273:0.491:0.0	.	139;151	Q6XGZ4;P10144	.;GRAB_HUMAN	V	139;151;185;106;56	ENSP00000387385:A139V;ENSP00000216341:A151V;ENSP00000371982:A185V;ENSP00000371980:A106V	ENSP00000216341:A151V	A	-	2	0	GZMB	24171052	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.170000	0.03118	0.347000	0.23924	-0.175000	0.13238	GCC	-	HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases		0.577	GZMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GZMB	protein_coding	OTTHUMT00000276540.3	G	NM_004131		24171052	-1	no_errors	NM_004131.4	genbank	human	reviewed	54_36p	missense	SNP	0.000	A
CASC5	57082	genome.wustl.edu	37	15	40916592	40916592	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2959-03A-01W-0733-08	TCGA-AB-2959-11A-01W-0732-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8c783e8d-d1d7-41cc-9b4d-e651f11d8fea	5f663626-659e-41d2-a1f5-934bb2c3ad8e	g.chr15:40916592G>C	ENST00000346991.5	+	11	4598	c.4208G>C	c.(4207-4209)gGa>gCa	p.G1403A	CASC5_ENST00000399668.2_Missense_Mutation_p.G1377A			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1403					acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AGTACCAAAGGACAGTTAGAC	0.383																																						dbGAP											0			15											78.0	73.0	74.0					15																	40916592		1874	4105	5979	38703884	SO:0001583	missense	0			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.4208G>C	15.37:g.40916592G>C	ENSP00000335463:p.Gly1403Ala	99	1.00	1		30	28.57	12	38703884	21	46.15	18	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	NULL	p.G1403A	ENST00000346991.5	37	c.4208	CCDS42023.1	15	.	.	.	.	.	.	.	.	.	.	G	5.088	0.201825	0.09652	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.05855	3.38;3.38	4.73	3.79	0.43588	.	0.455157	0.16829	N	0.197835	T	0.09024	0.0223	L	0.34521	1.04	0.09310	N	1	D;D;D	0.56035	0.974;0.974;0.974	P;P;P	0.59221	0.854;0.854;0.854	T	0.06373	-1.0830	10	0.02654	T	1	.	9.5343	0.39213	0.1661:0.0:0.8339:0.0	.	1377;1403;1377	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	A	1403;1377;1377	ENSP00000335463:G1403A;ENSP00000382576:G1377A	ENSP00000260369:G1377A	G	+	2	0	CASC5	38703884	0.000000	0.05858	0.942000	0.38095	0.473000	0.32948	0.147000	0.16202	2.328000	0.79073	0.603000	0.83216	GGA	-	NULL		0.383	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CASC5	protein_coding	OTTHUMT00000390224.2	G	NM_144508		38703884	+1	no_errors	NM_170589.3	genbank	human	validated	54_36p	missense	SNP	0.044	C
IDH2	3418	genome.wustl.edu	37	15	90631934	90631934	+	Missense_Mutation	SNP	C	C	T	rs121913502		TCGA-AB-2959-03A-01W-0733-08	TCGA-AB-2959-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8c783e8d-d1d7-41cc-9b4d-e651f11d8fea	5f663626-659e-41d2-a1f5-934bb2c3ad8e	g.chr15:90631934C>T	ENST00000330062.3	-	4	532	c.419G>A	c.(418-420)cGg>cAg	p.R140Q	IDH2_ENST00000540499.2_Missense_Mutation_p.R88Q|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R10Q	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	140	Substrate binding. {ECO:0000250}.		R -> G (in D2HGA2). {ECO:0000269|PubMed:20847235}.|R -> Q (in D2HGA2). {ECO:0000269|PubMed:20847235}.		2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R140Q(292)|p.R140L(8)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CAGGATGTTCCGGATAGTTCC	0.537			M		GBM																																	dbGAP		Dom	yes		15	15q26.1	3418	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """		M	300	Substitution - Missense(300)	haematopoietic_and_lymphoid_tissue(300)	15											103.0	103.0	103.0					15																	90631934		2200	4298	6498	88432938	SO:0001583	missense	0				CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.419G>A	15.37:g.90631934C>T	ENSP00000331897:p.Arg140Gln	75	1.32	1		82	49.08	80	88432938	22	42.11	16	B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like	p.R140Q	ENST00000330062.3	37	c.419	CCDS10359.1	15	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604397	0.66445	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.87179	-2.22;-2.22;-2.22	5.67	4.75	0.60458	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95449	0.8522	H	0.96833	3.89	0.48185	D	0.999601	D	0.89917	1.0	D	0.87578	0.998	D	0.96254	0.9185	10	0.87932	D	0	.	12.4459	0.55651	0.0:0.9189:0.0:0.0811	.	140	P48735	IDHP_HUMAN	Q	140;10;88	ENSP00000331897:R140Q;ENSP00000438457:R10Q;ENSP00000446147:R88Q	ENSP00000331897:R140Q	R	-	2	0	IDH2	88432938	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	7.797000	0.85911	1.397000	0.46682	-0.258000	0.10820	CGG	-	HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like		0.537	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDH2	protein_coding	OTTHUMT00000313426.1	C			88432938	-1	no_errors	NM_002168.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
NUP93	9688	genome.wustl.edu	37	16	56832421	56832421	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2959-03A-01W-0733-08	TCGA-AB-2959-11A-01W-0732-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8c783e8d-d1d7-41cc-9b4d-e651f11d8fea	5f663626-659e-41d2-a1f5-934bb2c3ad8e	g.chr16:56832421C>A	ENST00000308159.5	+	4	452	c.331C>A	c.(331-333)Ctg>Atg	p.L111M	NUP93_ENST00000564887.1_5'UTR|NUP93_ENST00000542526.1_5'UTR|NUP93_ENST00000569595.1_3'UTR|NUP93_ENST00000569842.1_Missense_Mutation_p.L111M	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	111					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CAATGCCCTGCTGTCTGCCAT	0.428																																					Colon(33;610 796 1305 1705 38917)	dbGAP											0			16											75.0	75.0	75.0					16																	56832421		2198	4300	6498	55389922	SO:0001583	missense	0			D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.331C>A	16.37:g.56832421C>A	ENSP00000310668:p.Leu111Met	189	0.00	0		25	24.24	8	55389922	68	11.69	9	B3KPQ8|Q14705	Missense_Mutation	SNP	HMMPfam_Nic96	p.L111M	ENST00000308159.5	37	c.331	CCDS10769.1	16	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148400	0.78001	.	.	ENSG00000102900	ENST00000308159	T	0.56103	0.48	5.94	3.97	0.46021	.	0.158525	0.48286	D	0.000191	T	0.57844	0.2081	M	0.78344	2.41	0.80722	D	1	B	0.34349	0.45	B	0.39503	0.301	T	0.59989	-0.7350	10	0.54805	T	0.06	-3.8651	12.4726	0.55795	0.0:0.8626:0.0:0.1374	.	111	Q8N1F7	NUP93_HUMAN	M	111	ENSP00000310668:L111M	ENSP00000310668:L111M	L	+	1	2	NUP93	55389922	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.524000	0.45589	0.837000	0.34925	0.644000	0.83932	CTG	-	NULL		0.428	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP93	protein_coding	OTTHUMT00000257058.4	C	NM_014669		55389922	+1	no_errors	NM_014669.3	genbank	human	validated	54_36p	missense	SNP	1.000	A
RTN4RL1	146760	genome.wustl.edu	37	17	1840686	1840686	+	Missense_Mutation	SNP	C	C	T	rs373384654		TCGA-AB-2959-03A-01W-0733-08	TCGA-AB-2959-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8c783e8d-d1d7-41cc-9b4d-e651f11d8fea	5f663626-659e-41d2-a1f5-934bb2c3ad8e	g.chr17:1840686C>T	ENST00000331238.6	-	2	909	c.430G>A	c.(430-432)Gtc>Atc	p.V144I		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						CCGCCAAAGACGCCGGCCGGC	0.637																																					GBM(68;949 1139 14865 32798 38342)	dbGAP											0			17						C	ILE/VAL	1,4337		0,1,2168	41.0	47.0	45.0		430	3.4	1.0	17		45	1,8525		0,1,4262	no	missense	RTN4RL1	NM_178568.2	29	0,2,6430	TT,TC,CC		0.0117,0.0231,0.0155	benign	144/442	1840686	2,12862	2169	4263	6432	1787436	SO:0001583	missense	0			AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"""nogo-66 receptor homolog 2"""	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.430G>A	17.37:g.1840686C>T	ENSP00000330631:p.Val144Ile	23	0.00	0		NA	NA	NA	1787436	18	34.48	10		Missense_Mutation	SNP	HMMPfam_LRRNT,HMMSmart_SM00082,HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like	p.V144I	ENST00000331238.6	37	c.430	CCDS45569.1	17	.	.	.	.	.	.	.	.	.	.	c	0.365	-0.937227	0.02340	2.31E-4	1.17E-4	ENSG00000185924	ENST00000331238	T	0.57595	0.39	5.72	3.39	0.38822	.	0.182212	0.26352	N	0.024874	T	0.29061	0.0722	N	0.20766	0.605	0.22446	N	0.999099	B	0.06786	0.001	B	0.04013	0.001	T	0.24154	-1.0168	10	0.02654	T	1	.	8.0069	0.30329	0.0:0.0685:0.2378:0.6937	.	144	Q86UN2	R4RL1_HUMAN	I	144	ENSP00000330631:V144I	ENSP00000330631:V144I	V	-	1	0	RTN4RL1	1787436	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	2.084000	0.41625	0.995000	0.38917	-0.304000	0.09214	GTC	-	HMMSmart_SM00369,superfamily_L domain-like		0.637	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTN4RL1	protein_coding	OTTHUMT00000450155.2	C	NM_178568		1787436	-1	no_errors	NM_178568.2	genbank	human	validated	54_36p	missense	SNP	1.000	T
ZNF133	7692	genome.wustl.edu	37	20	18297128	18297128	+	Missense_Mutation	SNP	T	T	G			TCGA-AB-2959-03A-01W-0733-08	TCGA-AB-2959-11A-01W-0732-08	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8c783e8d-d1d7-41cc-9b4d-e651f11d8fea	5f663626-659e-41d2-a1f5-934bb2c3ad8e	g.chr20:18297128T>G	ENST00000316358.4	+	4	1730	c.1633T>G	c.(1633-1635)Tcg>Gcg	p.S545A	ZNF133_ENST00000377671.3_Missense_Mutation_p.S544A|ZNF133_ENST00000538547.1_Missense_Mutation_p.S450A|ZNF133_ENST00000535822.1_Missense_Mutation_p.S450A|ZNF133_ENST00000402618.2_Missense_Mutation_p.S482A|ZNF133_ENST00000396026.3_Missense_Mutation_p.S548A|RP4-568F9.3_ENST00000436848.1_RNA|ZNF133_ENST00000401790.1_Missense_Mutation_p.S545A|ZNF133_ENST00000462170.1_3'UTR	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	545					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						GCGGAAGCACTCGAGGGAGAA	0.587																																						dbGAP											0			20											95.0	82.0	86.0					20																	18297128		2203	4300	6503	18245128	SO:0001583	missense	0			AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"""Zinc fingers, C2H2-type"", ""-"""	12917	protein-coding gene	gene with protein product		604075	"""zinc finger protein 150 (pHZ-66)"", ""zinc finger protein 133 (clone pHZ-13)"""	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.1633T>G	20.37:g.18297128T>G	ENSP00000346090:p.Ser545Ala	125	0.79	1		0	100.00	1	18245128	26	43.48	20	A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Missense_Mutation	SNP	HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667	p.S544A	ENST00000316358.4	37	c.1630		20	.	.	.	.	.	.	.	.	.	.	T	4.210	0.037706	0.08148	.	.	ENSG00000125846	ENST00000377671;ENST00000396026;ENST00000402618;ENST00000401790;ENST00000538547;ENST00000535822;ENST00000316358	T;T;T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12;2.12;2.12	4.59	-1.98	0.07480	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.841748	0.09982	N	0.730862	T	0.16557	0.0398	L	0.42008	1.315	0.20926	N	0.999824	B;B;B;B	0.18610	0.023;0.029;0.006;0.005	B;B;B;B	0.30782	0.12;0.042;0.019;0.018	T	0.43261	-0.9402	10	0.72032	D	0.01	0.0201	2.3338	0.04242	0.2598:0.0799:0.3987:0.2616	.	482;548;545;544	B4DIB8;B4DHU7;P52736;P52736-2	.;.;ZN133_HUMAN;.	A	544;548;482;545;450;450;545	ENSP00000366899:S544A;ENSP00000400897:S548A;ENSP00000385279:S482A;ENSP00000383945:S545A;ENSP00000442978:S450A;ENSP00000439427:S450A;ENSP00000346090:S545A	ENSP00000346090:S545A	S	+	1	0	ZNF133	18245128	0.044000	0.20184	0.018000	0.16275	0.006000	0.05464	0.273000	0.18662	-0.365000	0.08076	-1.236000	0.01555	TCG	-	superfamily_SSF57667		0.587	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	ZNF133	protein_coding	OTTHUMT00000127616.1	T	NM_003434		18245128	+1	no_errors	NM_001083330.1	genbank	human	validated	54_36p	missense	SNP	0.980	G
RUNX1	861	genome.wustl.edu	37	21	36231782	36231782	+	Missense_Mutation	SNP	C	C	T	rs74315450		TCGA-AB-2959-03A-01W-0733-08	TCGA-AB-2959-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8c783e8d-d1d7-41cc-9b4d-e651f11d8fea	5f663626-659e-41d2-a1f5-934bb2c3ad8e	g.chr21:36231782C>T	ENST00000344691.4	-	3	2098	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	RUNX1_ENST00000437180.1_Missense_Mutation_p.R201Q|RUNX1_ENST00000399240.1_Missense_Mutation_p.R174Q|RUNX1_ENST00000325074.5_Missense_Mutation_p.R189Q|RUNX1_ENST00000358356.5_Missense_Mutation_p.R174Q|RUNX1_ENST00000300305.3_Missense_Mutation_p.R201Q|RUNX1_ENST00000486278.2_Missense_Mutation_p.R177Q	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	174	Interaction with DNA.|Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.		R -> Q (in FPDMM; impaired phosphorylation). {ECO:0000269|PubMed:10508512, ECO:0000269|PubMed:18695000}.		behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.R201Q(8)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						TCGAGGTTCTCGGGGCCCATC	0.552			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	dbGAP		Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	8	Substitution - Missense(8)	haematopoietic_and_lymphoid_tissue(8)	21	GRCh37	CM992140	RUNX1	M	rs74315450						265.0	232.0	243.0					21																	36231782		2203	4300	6503	35153652	SO:0001583	missense	0			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.521G>A	21.37:g.36231782C>T	ENSP00000340690:p.Arg174Gln	102	0.00	0		9	97.40	825	35153652	6	86.96	40	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Missense_Mutation	SNP	superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI	p.R201Q	ENST00000344691.4	37	c.602	CCDS42922.1	21	.	.	.	.	.	.	.	.	.	.	C	33	5.209326	0.95069	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000399245;ENST00000358356;ENST00000399237;ENST00000486278	D;D;D;D;D;D;D;D	0.99706	-6.47;-6.47;-6.47;-6.47;-6.47;-6.47;-6.47;-6.47	5.12	5.12	0.69794	Acute myeloid leukemia 1 (AML 1)/Runt (2);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99664	0.9875	M	0.83118	2.625	0.80722	A	1	D;D;D;B;P;P;D	0.89917	1.0;1.0;0.987;0.353;0.926;0.945;0.998	D;D;P;B;B;B;D	0.80764	0.987;0.994;0.908;0.064;0.28;0.148;0.98	D	0.97754	1.0216	9	0.56958	D	0.05	-10.7194	16.0721	0.80941	0.0:1.0:0.0:0.0	.	201;174;174;177;201;189;174	Q2TAM6;Q01196-5;Q01196-3;C9JK12;Q01196-8;Q01196-10;Q01196	.;.;.;.;.;.;RUNX1_HUMAN	Q	174;201;201;189;174;177;174;189;177	ENSP00000340690:R174Q;ENSP00000300305:R201Q;ENSP00000409227:R201Q;ENSP00000319459:R189Q;ENSP00000382184:R174Q;ENSP00000351123:R174Q;ENSP00000382182:R189Q;ENSP00000438019:R177Q	ENSP00000300305:R201Q	R	-	2	0	RUNX1	35153652	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.486000	0.81215	2.377000	0.81083	0.655000	0.94253	CGA	-	superfamily_p53-like transcription factors,HMMPfam_Runt		0.552	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	protein_coding	OTTHUMT00000194230.1	C			35153652	-1	no_errors	NM_001754.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
